Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.55443769A=CA1459075166CLOCK,TMEM165c.1820T= (p.Ile607=)
c.353-8470A=
n.402T=
c.409-8470A=
c.899-8470A= (n.899-8470A=)
c.1643T= (p.Ile548=)
4g.55443769A>CCA96904699CLOCK,TMEM165c.1820T>G (p.Ile607Ser)
c.353-8470A>C
n.402T>G
c.409-8470A>C
c.899-8470A>C (n.899-8470A>C)
c.1643T>G (p.Ile548Ser)
 ClinVar dbSNP gnomAD v4
4g.55443769A>GCA356915384CLOCK,TMEM165c.1820T>C (p.Ile607Thr)
c.353-8470A>G
n.402T>C
c.409-8470A>G
c.899-8470A>G (n.899-8470A>G)
c.1643T>C (p.Ile548Thr)
4g.55443769A>TCA356915387CLOCK,TMEM165c.1820T>A (p.Ile607Asn)
c.353-8470A>T
n.402T>A
c.409-8470A>T
c.899-8470A>T (n.899-8470A>T)
c.1643T>A (p.Ile548Asn)
4g.55443770T>ACA2925804CLOCK,TMEM165c.1819A>T (p.Ile607Phe)
c.353-8469T>A
n.401A>T
c.409-8469T>A
c.899-8469T>A (n.899-8469T>A)
c.1642A>T (p.Ile548Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443770T>CCA2925805CLOCK,TMEM165c.1819A>G (p.Ile607Val)
c.353-8469T>C
n.401A>G
c.409-8469T>C
c.899-8469T>C (n.899-8469T>C)
c.1642A>G (p.Ile548Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443770T>GCA356915399CLOCK,TMEM165c.1819A>C (p.Ile607Leu)
c.353-8469T>G
n.401A>C
c.409-8469T>G
c.899-8469T>G (n.899-8469T>G)
c.1642A>C (p.Ile548Leu)
4g.55443770T=CA1459075168CLOCK,TMEM165c.1819A= (p.Ile607=)
c.353-8469T=
n.401A=
c.409-8469T=
c.899-8469T= (n.899-8469T=)
c.1642A= (p.Ile548=)
4g.55443771C>ACA356915405CLOCK,TMEM165c.1818G>T (p.Gln606His)
c.353-8468C>A
n.400G>T
c.409-8468C>A
c.899-8468C>A (n.899-8468C>A)
c.1641G>T (p.Gln547His)
4g.55443771C=CA1459075172CLOCK,TMEM165c.1818G= (p.Gln606=)
c.353-8468C=
n.400G=
c.409-8468C=
c.899-8468C= (n.899-8468C=)
c.1641G= (p.Gln547=)
4g.55443771C>GCA2925806CLOCK,TMEM165c.1818G>C (p.Gln606His)
c.353-8468C>G
n.400G>C
c.409-8468C>G
c.899-8468C>G (n.899-8468C>G)
c.1641G>C (p.Gln547His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443771C>TCA439485186CLOCK,TMEM165c.1818G>A (p.Gln606=)
c.353-8468C>T
n.400G>A
c.409-8468C>T
c.899-8468C>T (n.899-8468C>T)
c.1641G>A (p.Gln547=)
 gnomAD v4
4g.55443772T>ACA356915411CLOCK,TMEM165c.1817A>T (p.Gln606Leu)
c.353-8467T>A
n.399A>T
c.409-8467T>A
c.899-8467T>A (n.899-8467T>A)
c.1640A>T (p.Gln547Leu)
4g.55443772T>CCA356915412CLOCK,TMEM165c.1817A>G (p.Gln606Arg)
c.353-8467T>C
n.399A>G
c.409-8467T>C
c.899-8467T>C (n.899-8467T>C)
c.1640A>G (p.Gln547Arg)
 gnomAD v4
4g.55443772T>GCA356915414CLOCK,TMEM165c.1817A>C (p.Gln606Pro)
c.353-8467T>G
n.399A>C
c.409-8467T>G
c.899-8467T>G (n.899-8467T>G)
c.1640A>C (p.Gln547Pro)
4g.55443773G>ACA356915419CLOCK,TMEM165c.1816C>T (p.Gln606Ter)
c.353-8466G>A
n.398C>T
c.409-8466G>A
c.899-8466G>A (n.899-8466G>A)
c.1639C>T (p.Gln547Ter)
4g.55443773G>CCA356915422CLOCK,TMEM165c.1816C>G (p.Gln606Glu)
c.353-8466G>C
n.398C>G
c.409-8466G>C
c.899-8466G>C (n.899-8466G>C)
c.1639C>G (p.Gln547Glu)
4g.55443773G>TCA356915426CLOCK,TMEM165c.1816C>A (p.Gln606Lys)
c.353-8466G>T
n.398C>A
c.409-8466G>T
c.899-8466G>T (n.899-8466G>T)
c.1639C>A (p.Gln547Lys)
4g.55443774G>ACA439485188CLOCK,TMEM165c.1815C>T (p.Asn605=)
c.353-8465G>A
n.397C>T
c.409-8465G>A
c.899-8465G>A (n.899-8465G>A)
c.1638C>T (p.Asn546=)
 gnomAD v4
4g.55443774G>CCA356915439CLOCK,TMEM165c.1815C>G (p.Asn605Lys)
c.353-8465G>C
n.397C>G
c.409-8465G>C
c.899-8465G>C (n.899-8465G>C)
c.1638C>G (p.Asn546Lys)
4g.55443774G>TCA356915445CLOCK,TMEM165c.1815C>A (p.Asn605Lys)
c.353-8465G>T
n.397C>A
c.409-8465G>T
c.899-8465G>T (n.899-8465G>T)
c.1638C>A (p.Asn546Lys)
4g.55443775T>ACA2925808CLOCK,TMEM165c.1814A>T (p.Asn605Ile)
c.353-8464T>A
n.396A>T
c.409-8464T>A
c.899-8464T>A (n.899-8464T>A)
c.1637A>T (p.Asn546Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443775T>CCA2925807CLOCK,TMEM165c.1814A>G (p.Asn605Ser)
c.353-8464T>C
n.396A>G
c.409-8464T>C
c.899-8464T>C (n.899-8464T>C)
c.1637A>G (p.Asn546Ser)
 dbSNP ExAC gnomAD v2
4g.55443775T>GCA356915453CLOCK,TMEM165c.1814A>C (p.Asn605Thr)
c.353-8464T>G
n.396A>C
c.409-8464T>G
c.899-8464T>G (n.899-8464T>G)
c.1637A>C (p.Asn546Thr)
4g.55443775T=CA1459075174CLOCK,TMEM165c.1814A= (p.Asn605=)
c.353-8464T=
n.396A=
c.409-8464T=
c.899-8464T= (n.899-8464T=)
c.1637A= (p.Asn546=)
4g.55443776T>ACA356915460CLOCK,TMEM165c.1813A>T (p.Asn605Tyr)
c.353-8463T>A
n.395A>T
c.409-8463T>A
c.899-8463T>A (n.899-8463T>A)
c.1636A>T (p.Asn546Tyr)
 gnomAD v4
4g.55443776T>CCA356915462CLOCK,TMEM165c.1813A>G (p.Asn605Asp)
c.353-8463T>C
n.395A>G
c.409-8463T>C
c.899-8463T>C (n.899-8463T>C)
c.1636A>G (p.Asn546Asp)
 gnomAD v4
4g.55443776T>GCA356915455CLOCK,TMEM165c.1813A>C (p.Asn605His)
c.353-8463T>G
n.395A>C
c.409-8463T>G
c.899-8463T>G (n.899-8463T>G)
c.1636A>C (p.Asn546His)
4g.55443777A>CCA439485191CLOCK,TMEM165c.1812T>G (p.Thr604=)
c.353-8462A>C
n.394T>G
c.409-8462A>C
c.899-8462A>C (n.899-8462A>C)
c.1635T>G (p.Thr545=)
4g.55443777A>GCA439485192CLOCK,TMEM165c.1812T>C (p.Thr604=)
c.353-8462A>G
n.394T>C
c.409-8462A>G
c.899-8462A>G (n.899-8462A>G)
c.1635T>C (p.Thr545=)
4g.55443777A>TCA439485193CLOCK,TMEM165c.1812T>A (p.Thr604=)
c.353-8462A>T
n.394T>A
c.409-8462A>T
c.899-8462A>T (n.899-8462A>T)
c.1635T>A (p.Thr545=)
4g.55443778G>ACA356915465CLOCK,TMEM165c.1811C>T (p.Thr604Ile)
c.353-8461G>A
n.393C>T
c.409-8461G>A
c.899-8461G>A (n.899-8461G>A)
c.1634C>T (p.Thr545Ile)
4g.55443778G>CCA356915467CLOCK,TMEM165c.1811C>G (p.Thr604Ser)
c.353-8461G>C
n.393C>G
c.409-8461G>C
c.899-8461G>C (n.899-8461G>C)
c.1634C>G (p.Thr545Ser)
4g.55443778G>TCA356915471CLOCK,TMEM165c.1811C>A (p.Thr604Asn)
c.353-8461G>T
n.393C>A
c.409-8461G>T
c.899-8461G>T (n.899-8461G>T)
c.1634C>A (p.Thr545Asn)
4g.55443779T>ACA356915475CLOCK,TMEM165c.1810A>T (p.Thr604Ser)
c.353-8460T>A
n.392A>T
c.409-8460T>A
c.899-8460T>A (n.899-8460T>A)
c.1633A>T (p.Thr545Ser)
4g.55443779T>CCA96904707CLOCK,TMEM165c.1810A>G (p.Thr604Ala)
c.353-8460T>C
n.392A>G
c.409-8460T>C
c.899-8460T>C (n.899-8460T>C)
c.1633A>G (p.Thr545Ala)
 dbSNP gnomAD v3 gnomAD v4
4g.55443779T>GCA356915483CLOCK,TMEM165c.1810A>C (p.Thr604Pro)
c.353-8460T>G
n.392A>C
c.409-8460T>G
c.899-8460T>G (n.899-8460T>G)
c.1633A>C (p.Thr545Pro)
4g.55443779T=CA1459075177CLOCK,TMEM165c.1810A= (p.Thr604=)
c.353-8460T=
n.392A=
c.409-8460T=
c.899-8460T= (n.899-8460T=)
c.1633A= (p.Thr545=)
4g.55443780A>CCA439485196CLOCK,TMEM165c.1809T>G (p.Pro603=)
c.353-8459A>C
n.391T>G
c.409-8459A>C
c.899-8459A>C (n.899-8459A>C)
c.1632T>G (p.Pro544=)
4g.55443780A>GCA439485198CLOCK,TMEM165c.1809T>C (p.Pro603=)
c.353-8459A>G
n.391T>C
c.409-8459A>G
c.899-8459A>G (n.899-8459A>G)
c.1632T>C (p.Pro544=)
4g.55443780A>TCA439485197CLOCK,TMEM165c.1809T>A (p.Pro603=)
c.353-8459A>T
n.391T>A
c.409-8459A>T
c.899-8459A>T (n.899-8459A>T)
c.1632T>A (p.Pro544=)
 gnomAD v4
4g.55443781G>ACA2925809CLOCK,TMEM165c.1808C>T (p.Pro603Leu)
c.353-8458G>A
n.390C>T
c.409-8458G>A
c.899-8458G>A (n.899-8458G>A)
c.1631C>T (p.Pro544Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.55443781G>CCA356915489CLOCK,TMEM165c.1808C>G (p.Pro603Arg)
c.353-8458G>C
n.390C>G
c.409-8458G>C
c.899-8458G>C (n.899-8458G>C)
c.1631C>G (p.Pro544Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.55443781G=CA1459075180CLOCK,TMEM165c.1808C= (p.Pro603=)
c.353-8458G=
n.390C=
c.409-8458G=
c.899-8458G= (n.899-8458G=)
c.1631C= (p.Pro544=)
4g.55443781G>TCA356915493CLOCK,TMEM165c.1808C>A (p.Pro603His)
c.353-8458G>T
n.390C>A
c.409-8458G>T
c.899-8458G>T (n.899-8458G>T)
c.1631C>A (p.Pro544His)
4g.55443782G>ACA96904726CLOCK,TMEM165c.1807C>T (p.Pro603Ser)
c.353-8457G>A
n.389C>T
c.409-8457G>A
c.899-8457G>A (n.899-8457G>A)
c.1630C>T (p.Pro544Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.55443782G>CCA356915500CLOCK,TMEM165c.1807C>G (p.Pro603Ala)
c.353-8457G>C
n.389C>G
c.409-8457G>C
c.899-8457G>C (n.899-8457G>C)
c.1630C>G (p.Pro544Ala)
4g.55443782G=CA1459075186CLOCK,TMEM165c.1807C= (p.Pro603=)
c.353-8457G=
n.389C=
c.409-8457G=
c.899-8457G= (n.899-8457G=)
c.1630C= (p.Pro544=)
4g.55443782G>TCA356915504CLOCK,TMEM165c.1807C>A (p.Pro603Thr)
c.353-8457G>T
n.389C>A
c.409-8457G>T
c.899-8457G>T (n.899-8457G>T)
c.1630C>A (p.Pro544Thr)
4g.55443783A=CA1459075189CLOCK,TMEM165c.1806T= (p.Val602=)
c.353-8456A=
n.388T=
c.409-8456A=
c.899-8456A= (n.899-8456A=)
c.1629T= (p.Val543=)
4g.55443783A>CCA439485199CLOCK,TMEM165c.1806T>G (p.Val602=)
c.353-8456A>C
n.388T>G
c.409-8456A>C
c.899-8456A>C (n.899-8456A>C)
c.1629T>G (p.Val543=)
4g.55443783A>GCA2925810CLOCK,TMEM165c.1806T>C (p.Val602=)
c.353-8456A>G
n.388T>C
c.409-8456A>G
c.899-8456A>G (n.899-8456A>G)
c.1629T>C (p.Val543=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.55443783A>TCA439485201CLOCK,TMEM165c.1806T>A (p.Val602=)
c.353-8456A>T
n.388T>A
c.409-8456A>T
c.899-8456A>T (n.899-8456A>T)
c.1629T>A (p.Val543=)
4g.55443784A=CA1459075192CLOCK,TMEM165c.1805T= (p.Val602=)
c.353-8455A=
n.387T=
c.409-8455A=
c.899-8455A= (n.899-8455A=)
c.1628T= (p.Val543=)
4g.55443784A>CCA356915516CLOCK,TMEM165c.1805T>G (p.Val602Gly)
c.353-8455A>C
n.387T>G
c.409-8455A>C
c.899-8455A>C (n.899-8455A>C)
c.1628T>G (p.Val543Gly)
4g.55443784A>GCA2925811CLOCK,TMEM165c.1805T>C (p.Val602Ala)
c.353-8455A>G
n.387T>C
c.409-8455A>G
c.899-8455A>G (n.899-8455A>G)
c.1628T>C (p.Val543Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.55443784A>TCA356915511CLOCK,TMEM165c.1805T>A (p.Val602Asp)
c.353-8455A>T
n.387T>A
c.409-8455A>T
c.899-8455A>T (n.899-8455A>T)
c.1628T>A (p.Val543Asp)
4g.55443785C>ACA356915521CLOCK,TMEM165c.1804G>T (p.Val602Phe)
c.353-8454C>A
n.386G>T
c.409-8454C>A
c.899-8454C>A (n.899-8454C>A)
c.1627G>T (p.Val543Phe)
4g.55443785C>GCA356915524CLOCK,TMEM165c.1804G>C (p.Val602Leu)
c.353-8454C>G
n.386G>C
c.409-8454C>G
c.899-8454C>G (n.899-8454C>G)
c.1627G>C (p.Val543Leu)
4g.55443785C>TCA356915528CLOCK,TMEM165c.1804G>A (p.Val602Ile)
c.353-8454C>T
n.386G>A
c.409-8454C>T
c.899-8454C>T (n.899-8454C>T)
c.1627G>A (p.Val543Ile)
 gnomAD v4
4g.55443786A>CCA439485203CLOCK,TMEM165c.1803T>G (p.Val601=)
c.353-8453A>C
n.385T>G
c.409-8453A>C
c.899-8453A>C (n.899-8453A>C)
c.1626T>G (p.Val542=)
4g.55443786A>GCA439485204CLOCK,TMEM165c.1803T>C (p.Val601=)
c.353-8453A>G
n.385T>C
c.409-8453A>G
c.899-8453A>G (n.899-8453A>G)
c.1626T>C (p.Val542=)
4g.55443786A>TCA439485205CLOCK,TMEM165c.1803T>A (p.Val601=)
c.353-8453A>T
n.385T>A
c.409-8453A>T
c.899-8453A>T (n.899-8453A>T)
c.1626T>A (p.Val542=)
4g.55443787A=CA1459075196CLOCK,TMEM165c.1802T= (p.Val601=)
c.353-8452A=
n.384T=
c.409-8452A=
c.899-8452A= (n.899-8452A=)
c.1625T= (p.Val542=)
4g.55443787A>CCA356915531CLOCK,TMEM165c.1802T>G (p.Val601Gly)
c.353-8452A>C
n.384T>G
c.409-8452A>C
c.899-8452A>C (n.899-8452A>C)
c.1625T>G (p.Val542Gly)
4g.55443787A>GCA356915534CLOCK,TMEM165c.1802T>C (p.Val601Ala)
c.353-8452A>G
n.384T>C
c.409-8452A>G
c.899-8452A>G (n.899-8452A>G)
c.1625T>C (p.Val542Ala)
 dbSNP gnomAD v3 gnomAD v4
4g.55443787A>TCA356915535CLOCK,TMEM165c.1802T>A (p.Val601Asp)
c.353-8452A>T
n.384T>A
c.409-8452A>T
c.899-8452A>T (n.899-8452A>T)
c.1625T>A (p.Val542Asp)
4g.55443788C>ACA356915537CLOCK,TMEM165c.1801G>T (p.Val601Phe)
c.353-8451C>A
n.383G>T
c.409-8451C>A
c.899-8451C>A (n.899-8451C>A)
c.1624G>T (p.Val542Phe)
4g.55443788C=CA1459075198CLOCK,TMEM165c.1801G= (p.Val601=)
c.353-8451C=
n.383G=
c.409-8451C=
c.899-8451C= (n.899-8451C=)
c.1624G= (p.Val542=)
4g.55443788C>GCA356915539CLOCK,TMEM165c.1801G>C (p.Val601Leu)
c.353-8451C>G
n.383G>C
c.409-8451C>G
c.899-8451C>G (n.899-8451C>G)
c.1624G>C (p.Val542Leu)
4g.55443788C>TCA2925812CLOCK,TMEM165c.1801G>A (p.Val601Ile)
c.353-8451C>T
n.383G>A
c.409-8451C>T
c.899-8451C>T (n.899-8451C>T)
c.1624G>A (p.Val542Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443789T>ACA356915544CLOCK,TMEM165c.1800A>T (p.Gln600His)
c.353-8450T>A
n.382A>T
c.409-8450T>A
c.899-8450T>A (n.899-8450T>A)
c.1623A>T (p.Gln541His)
4g.55443789T>CCA2925813CLOCK,TMEM165c.1800A>G (p.Gln600=)
c.353-8450T>C
n.382A>G
c.409-8450T>C
c.899-8450T>C (n.899-8450T>C)
c.1623A>G (p.Gln541=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443789T>GCA356915548CLOCK,TMEM165c.1800A>C (p.Gln600His)
c.353-8450T>G
n.382A>C
c.409-8450T>G
c.899-8450T>G (n.899-8450T>G)
c.1623A>C (p.Gln541His)
4g.55443789T=CA1459075200CLOCK,TMEM165c.1800A= (p.Gln600=)
c.353-8450T=
n.382A=
c.409-8450T=
c.899-8450T= (n.899-8450T=)
c.1623A= (p.Gln541=)
4g.55443790T>ACA356915560CLOCK,TMEM165c.1799A>T (p.Gln600Leu)
c.353-8449T>A
n.381A>T
c.409-8449T>A
c.899-8449T>A (n.899-8449T>A)
c.1622A>T (p.Gln541Leu)
4g.55443790T>CCA356915557CLOCK,TMEM165c.1799A>G (p.Gln600Arg)
c.353-8449T>C
n.381A>G
c.409-8449T>C
c.899-8449T>C (n.899-8449T>C)
c.1622A>G (p.Gln541Arg)
 gnomAD v4
4g.55443790T>GCA356915551CLOCK,TMEM165c.1799A>C (p.Gln600Pro)
c.353-8449T>G
n.381A>C
c.409-8449T>G
c.899-8449T>G (n.899-8449T>G)
c.1622A>C (p.Gln541Pro)
4g.55443791G>ACA356915562CLOCK,TMEM165c.1798C>T (p.Gln600Ter)
c.353-8448G>A
n.380C>T
c.409-8448G>A
c.899-8448G>A (n.899-8448G>A)
c.1621C>T (p.Gln541Ter)
4g.55443791G>CCA356915573CLOCK,TMEM165c.1798C>G (p.Gln600Glu)
c.353-8448G>C
n.380C>G
c.409-8448G>C
c.899-8448G>C (n.899-8448G>C)
c.1621C>G (p.Gln541Glu)
 gnomAD v4
4g.55443791G>TCA356915571CLOCK,TMEM165c.1798C>A (p.Gln600Lys)
c.353-8448G>T
n.380C>A
c.409-8448G>T
c.899-8448G>T (n.899-8448G>T)
c.1621C>A (p.Gln541Lys)
4g.55443792G>ACA439485208CLOCK,TMEM165c.1797C>T (p.Gly599=)
c.353-8447G>A
n.379C>T
c.409-8447G>A
c.899-8447G>A (n.899-8447G>A)
c.1620C>T (p.Gly540=)
4g.55443792G>CCA439485209CLOCK,TMEM165c.1797C>G (p.Gly599=)
c.353-8447G>C
n.379C>G
c.409-8447G>C
c.899-8447G>C (n.899-8447G>C)
c.1620C>G (p.Gly540=)
4g.55443792G>TCA439485210CLOCK,TMEM165c.1797C>A (p.Gly599=)
c.353-8447G>T
n.379C>A
c.409-8447G>T
c.899-8447G>T (n.899-8447G>T)
c.1620C>A (p.Gly540=)
 gnomAD v4
4g.55443793C>ACA356915577CLOCK,TMEM165c.1796G>T (p.Gly599Val)
c.353-8446C>A
n.378G>T
c.409-8446C>A
c.899-8446C>A (n.899-8446C>A)
c.1619G>T (p.Gly540Val)
4g.55443793C=CA1459075204CLOCK,TMEM165c.1796G= (p.Gly599=)
c.353-8446C=
n.378G=
c.409-8446C=
c.899-8446C= (n.899-8446C=)
c.1619G= (p.Gly540=)
4g.55443793C>GCA96904756CLOCK,TMEM165c.1796G>C (p.Gly599Ala)
c.353-8446C>G
n.378G>C
c.409-8446C>G
c.899-8446C>G (n.899-8446C>G)
c.1619G>C (p.Gly540Ala)
 dbSNP
4g.55443793C>TCA356915580CLOCK,TMEM165c.1796G>A (p.Gly599Asp)
c.353-8446C>T
n.378G>A
c.409-8446C>T
c.899-8446C>T (n.899-8446C>T)
c.1619G>A (p.Gly540Asp)
4g.55443794C>ACA356915584CLOCK,TMEM165c.1795G>T (p.Gly599Cys)
c.353-8445C>A
n.377G>T
c.409-8445C>A
c.899-8445C>A (n.899-8445C>A)
c.1618G>T (p.Gly540Cys)
4g.55443794C>GCA356915586CLOCK,TMEM165c.1795G>C (p.Gly599Arg)
c.353-8445C>G
n.377G>C
c.409-8445C>G
c.899-8445C>G (n.899-8445C>G)
c.1618G>C (p.Gly540Arg)
4g.55443794C>TCA356915590CLOCK,TMEM165c.1795G>A (p.Gly599Ser)
c.353-8445C>T
n.377G>A
c.409-8445C>T
c.899-8445C>T (n.899-8445C>T)
c.1618G>A (p.Gly540Ser)
4g.55443795T>ACA356915593CLOCK,TMEM165c.1794A>T (p.Gln598His)
c.353-8444T>A
n.376A>T
c.409-8444T>A
c.899-8444T>A (n.899-8444T>A)
c.1617A>T (p.Gln539His)
4g.55443795T>CCA439485213CLOCK,TMEM165c.1794A>G (p.Gln598=)
c.353-8444T>C
n.376A>G
c.409-8444T>C
c.899-8444T>C (n.899-8444T>C)
c.1617A>G (p.Gln539=)
4g.55443795T>GCA356915600CLOCK,TMEM165c.1794A>C (p.Gln598His)
c.353-8444T>G
n.376A>C
c.409-8444T>G
c.899-8444T>G (n.899-8444T>G)
c.1617A>C (p.Gln539His)
4g.55443796T>ACA356915604CLOCK,TMEM165c.1793A>T (p.Gln598Leu)
c.353-8443T>A
n.375A>T
c.409-8443T>A
c.899-8443T>A (n.899-8443T>A)
c.1616A>T (p.Gln539Leu)
4g.55443796T>CCA356915607CLOCK,TMEM165c.1793A>G (p.Gln598Arg)
c.353-8443T>C
n.375A>G
c.409-8443T>C
c.899-8443T>C (n.899-8443T>C)
c.1616A>G (p.Gln539Arg)
4g.55443796T>GCA356915612CLOCK,TMEM165c.1793A>C (p.Gln598Pro)
c.353-8443T>G
n.375A>C
c.409-8443T>G
c.899-8443T>G (n.899-8443T>G)
c.1616A>C (p.Gln539Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.55443796T=CA1459075208CLOCK,TMEM165c.1793A= (p.Gln598=)
c.353-8443T=
n.375A=
c.409-8443T=
c.899-8443T= (n.899-8443T=)
c.1616A= (p.Gln539=)
4g.55443797G>ACA356915620CLOCK,TMEM165c.1792C>T (p.Gln598Ter)
c.353-8442G>A
n.374C>T
c.409-8442G>A
c.899-8442G>A (n.899-8442G>A)
c.1615C>T (p.Gln539Ter)
 gnomAD v4
4g.55443797G>CCA356915616CLOCK,TMEM165c.1792C>G (p.Gln598Glu)
c.353-8442G>C
n.374C>G
c.409-8442G>C
c.899-8442G>C (n.899-8442G>C)
c.1615C>G (p.Gln539Glu)
4g.55443797G>TCA356915618CLOCK,TMEM165c.1792C>A (p.Gln598Lys)
c.353-8442G>T
n.374C>A
c.409-8442G>T
c.899-8442G>T (n.899-8442G>T)
c.1615C>A (p.Gln539Lys)
4g.55443798C>ACA356915626CLOCK,TMEM165c.1791G>T (p.Met597Ile)
c.353-8441C>A
n.373G>T
c.409-8441C>A
c.899-8441C>A (n.899-8441C>A)
c.1614G>T (p.Met538Ile)
4g.55443798C=CA1459075211CLOCK,TMEM165c.1791G= (p.Met597=)
c.353-8441C=
n.373G=
c.409-8441C=
c.899-8441C= (n.899-8441C=)
c.1614G= (p.Met538=)
4g.55443798C>GCA356915637CLOCK,TMEM165c.1791G>C (p.Met597Ile)
c.353-8441C>G
n.373G>C
c.409-8441C>G
c.899-8441C>G (n.899-8441C>G)
c.1614G>C (p.Met538Ile)
4g.55443798C>TCA2925814CLOCK,TMEM165c.1791G>A (p.Met597Ile)
c.353-8441C>T
n.373G>A
c.409-8441C>T
c.899-8441C>T (n.899-8441C>T)
c.1614G>A (p.Met538Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443799A>CCA356915641CLOCK,TMEM165c.1790T>G (p.Met597Arg)
c.353-8440A>C
n.372T>G
c.409-8440A>C
c.899-8440A>C (n.899-8440A>C)
c.1613T>G (p.Met538Arg)
4g.55443799A>GCA356915644CLOCK,TMEM165c.1790T>C (p.Met597Thr)
c.353-8440A>G
n.372T>C
c.409-8440A>G
c.899-8440A>G (n.899-8440A>G)
c.1613T>C (p.Met538Thr)
4g.55443799A>TCA356915647CLOCK,TMEM165c.1790T>A (p.Met597Lys)
c.353-8440A>T
n.372T>A
c.409-8440A>T
c.899-8440A>T (n.899-8440A>T)
c.1613T>A (p.Met538Lys)
4g.55443800T>ACA356915650CLOCK,TMEM165c.1789A>T (p.Met597Leu)
c.353-8439T>A
n.371A>T
c.409-8439T>A
c.899-8439T>A (n.899-8439T>A)
c.1612A>T (p.Met538Leu)
4g.55443800T>CCA2925815CLOCK,TMEM165c.1789A>G (p.Met597Val)
c.353-8439T>C
n.371A>G
c.409-8439T>C
c.899-8439T>C (n.899-8439T>C)
c.1612A>G (p.Met538Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.55443800T>GCA356915653CLOCK,TMEM165c.1789A>C (p.Met597Leu)
c.353-8439T>G
n.371A>C
c.409-8439T>G
c.899-8439T>G (n.899-8439T>G)
c.1612A>C (p.Met538Leu)
4g.55443800T=CA1459075214CLOCK,TMEM165c.1789A= (p.Met597=)
c.353-8439T=
n.371A=
c.409-8439T=
c.899-8439T= (n.899-8439T=)
c.1612A= (p.Met538=)
4g.55443801A>CCA356915656CLOCK,TMEM165c.1788T>G (p.Asn596Lys)
c.353-8438A>C
n.370T>G
c.409-8438A>C
c.899-8438A>C (n.899-8438A>C)
c.1611T>G (p.Asn537Lys)
4g.55443801A>GCA439485218CLOCK,TMEM165c.1788T>C (p.Asn596=)
c.353-8438A>G
n.370T>C
c.409-8438A>G
c.899-8438A>G (n.899-8438A>G)
c.1611T>C (p.Asn537=)
4g.55443801A>TCA356915659CLOCK,TMEM165c.1788T>A (p.Asn596Lys)
c.353-8438A>T
n.370T>A
c.409-8438A>T
c.899-8438A>T (n.899-8438A>T)
c.1611T>A (p.Asn537Lys)
4g.55443802T>ACA356915662CLOCK,TMEM165c.1787A>T (p.Asn596Ile)
c.353-8437T>A
n.369A>T
c.409-8437T>A
c.899-8437T>A (n.899-8437T>A)
c.1610A>T (p.Asn537Ile)
4g.55443802T>CCA356915664CLOCK,TMEM165c.1787A>G (p.Asn596Ser)
c.353-8437T>C
n.369A>G
c.409-8437T>C
c.899-8437T>C (n.899-8437T>C)
c.1610A>G (p.Asn537Ser)
4g.55443802T>GCA356915661CLOCK,TMEM165c.1787A>C (p.Asn596Thr)
c.353-8437T>G
n.369A>C
c.409-8437T>G
c.899-8437T>G (n.899-8437T>G)
c.1610A>C (p.Asn537Thr)
4g.55443803T>ACA356915669CLOCK,TMEM165c.1786A>T (p.Asn596Tyr)
c.353-8436T>A
n.368A>T
c.409-8436T>A
c.899-8436T>A (n.899-8436T>A)
c.1609A>T (p.Asn537Tyr)
4g.55443803T>CCA356915675CLOCK,TMEM165c.1786A>G (p.Asn596Asp)
c.353-8436T>C
n.368A>G
c.409-8436T>C
c.899-8436T>C (n.899-8436T>C)
c.1609A>G (p.Asn537Asp)
4g.55443803T>GCA356915677CLOCK,TMEM165c.1786A>C (p.Asn596His)
c.353-8436T>G
n.368A>C
c.409-8436T>G
c.899-8436T>G (n.899-8436T>G)
c.1609A>C (p.Asn537His)
4g.55443804T>ACA439485220CLOCK,TMEM165c.1785A>T (p.Ile595=)
c.353-8435T>A
n.367A>T
c.409-8435T>A
c.899-8435T>A (n.899-8435T>A)
c.1608A>T (p.Ile536=)
4g.55443804T>CCA356915695CLOCK,TMEM165c.1785A>G (p.Ile595Met)
c.353-8435T>C
n.367A>G
c.409-8435T>C
c.899-8435T>C (n.899-8435T>C)
c.1608A>G (p.Ile536Met)
4g.55443804T>GCA439485223CLOCK,TMEM165c.1785A>C (p.Ile595=)
c.353-8435T>G
n.367A>C
c.409-8435T>G
c.899-8435T>G (n.899-8435T>G)
c.1608A>C (p.Ile536=)
4g.55443805A>CCA356915698CLOCK,TMEM165c.1784T>G (p.Ile595Arg)
c.353-8434A>C
n.366T>G
c.409-8434A>C
c.899-8434A>C (n.899-8434A>C)
c.1607T>G (p.Ile536Arg)
4g.55443805A>GCA356915701CLOCK,TMEM165c.1784T>C (p.Ile595Thr)
c.353-8434A>G
n.366T>C
c.409-8434A>G
c.899-8434A>G (n.899-8434A>G)
c.1607T>C (p.Ile536Thr)
4g.55443805A>TCA356915706CLOCK,TMEM165c.1784T>A (p.Ile595Lys)
c.353-8434A>T
n.366T>A
c.409-8434A>T
c.899-8434A>T (n.899-8434A>T)
c.1607T>A (p.Ile536Lys)
4g.55443806T>ACA356915712CLOCK,TMEM165c.1783A>T (p.Ile595Leu)
c.353-8433T>A
n.365A>T
c.409-8433T>A
c.899-8433T>A (n.899-8433T>A)
c.1606A>T (p.Ile536Leu)
4g.55443806T>CCA356915715CLOCK,TMEM165c.1783A>G (p.Ile595Val)
c.353-8433T>C
n.365A>G
c.409-8433T>C
c.899-8433T>C (n.899-8433T>C)
c.1606A>G (p.Ile536Val)
4g.55443806T>GCA356915719CLOCK,TMEM165c.1783A>C (p.Ile595Leu)
c.353-8433T>G
n.365A>C
c.409-8433T>G
c.899-8433T>G (n.899-8433T>G)
c.1606A>C (p.Ile536Leu)
4g.55443807A>CCA439485225CLOCK,TMEM165c.1782T>G (p.Pro594=)
c.353-8432A>C
n.364T>G
c.409-8432A>C
c.899-8432A>C (n.899-8432A>C)
c.1605T>G (p.Pro535=)
4g.55443807A>GCA439485226CLOCK,TMEM165c.1782T>C (p.Pro594=)
c.353-8432A>G
n.364T>C
c.409-8432A>G
c.899-8432A>G (n.899-8432A>G)
c.1605T>C (p.Pro535=)
4g.55443807A>TCA439485227CLOCK,TMEM165c.1782T>A (p.Pro594=)
c.353-8432A>T
n.364T>A
c.409-8432A>T
c.899-8432A>T (n.899-8432A>T)
c.1605T>A (p.Pro535=)
 gnomAD v4
4g.55443808G>ACA356915724CLOCK,TMEM165c.1781C>T (p.Pro594Leu)
c.353-8431G>A
n.363C>T
c.409-8431G>A
c.899-8431G>A (n.899-8431G>A)
c.1604C>T (p.Pro535Leu)
 gnomAD v4
4g.55443808G>CCA356915728CLOCK,TMEM165c.1781C>G (p.Pro594Arg)
c.353-8431G>C
n.363C>G
c.409-8431G>C
c.899-8431G>C (n.899-8431G>C)
c.1604C>G (p.Pro535Arg)
4g.55443808G>TCA356915729CLOCK,TMEM165c.1781C>A (p.Pro594His)
c.353-8431G>T
n.363C>A
c.409-8431G>T
c.899-8431G>T (n.899-8431G>T)
c.1604C>A (p.Pro535His)
4g.55443809G>ACA356915732CLOCK,TMEM165c.1780C>T (p.Pro594Ser)
c.353-8430G>A
n.362C>T
c.409-8430G>A
c.899-8430G>A (n.899-8430G>A)
c.1603C>T (p.Pro535Ser)
 gnomAD v4
4g.55443809G>CCA356915731CLOCK,TMEM165c.1780C>G (p.Pro594Ala)
c.353-8430G>C
n.362C>G
c.409-8430G>C
c.899-8430G>C (n.899-8430G>C)
c.1603C>G (p.Pro535Ala)
4g.55443809G>TCA356915730CLOCK,TMEM165c.1780C>A (p.Pro594Thr)
c.353-8430G>T
n.362C>A
c.409-8430G>T
c.899-8430G>T (n.899-8430G>T)
c.1603C>A (p.Pro535Thr)
4g.55443810T>ACA96904774CLOCK,TMEM165c.1779A>T (p.Ala593=)
c.353-8429T>A
n.361A>T
c.409-8429T>A
c.899-8429T>A (n.899-8429T>A)
c.1602A>T (p.Ala534=)
 dbSNP
4g.55443810T>CCA2925816CLOCK,TMEM165c.1779A>G (p.Ala593=)
c.353-8429T>C
n.361A>G
c.409-8429T>C
c.899-8429T>C (n.899-8429T>C)
c.1602A>G (p.Ala534=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.55443810T>GCA439485231CLOCK,TMEM165c.1779A>C (p.Ala593=)
c.353-8429T>G
n.361A>C
c.409-8429T>G
c.899-8429T>G (n.899-8429T>G)
c.1602A>C (p.Ala534=)
4g.55443810T=CA1459075216CLOCK,TMEM165c.1779A= (p.Ala593=)
c.353-8429T=
n.361A=
c.409-8429T=
c.899-8429T= (n.899-8429T=)
c.1602A= (p.Ala534=)
4g.55443811G>ACA356915741CLOCK,TMEM165c.1778C>T (p.Ala593Val)
c.353-8428G>A
n.360C>T
c.409-8428G>A
c.899-8428G>A (n.899-8428G>A)
c.1601C>T (p.Ala534Val)
4g.55443811G>CCA356915751CLOCK,TMEM165c.1778C>G (p.Ala593Gly)
c.353-8428G>C
n.360C>G
c.409-8428G>C
c.899-8428G>C (n.899-8428G>C)
c.1601C>G (p.Ala534Gly)
 dbSNP
4g.55443811G=CA1459075221CLOCK,TMEM165c.1778C= (p.Ala593=)
c.353-8428G=
n.360C=
c.409-8428G=
c.899-8428G= (n.899-8428G=)
c.1601C= (p.Ala534=)
4g.55443811G>TCA356915756CLOCK,TMEM165c.1778C>A (p.Ala593Glu)
c.353-8428G>T
n.360C>A
c.409-8428G>T
c.899-8428G>T (n.899-8428G>T)
c.1601C>A (p.Ala534Glu)
 gnomAD v4
4g.55443812C>ACA96904787CLOCK,TMEM165c.1777G>T (p.Ala593Ser)
c.353-8427C>A
n.359G>T
c.409-8427C>A
c.899-8427C>A (n.899-8427C>A)
c.1600G>T (p.Ala534Ser)
 dbSNP gnomAD v4
4g.55443812C=CA1459075223CLOCK,TMEM165c.1777G= (p.Ala593=)
c.353-8427C=
n.359G=
c.409-8427C=
c.899-8427C= (n.899-8427C=)
c.1600G= (p.Ala534=)
4g.55443812C>GCA356915774CLOCK,TMEM165c.1777G>C (p.Ala593Pro)
c.353-8427C>G
n.359G>C
c.409-8427C>G
c.899-8427C>G (n.899-8427C>G)
c.1600G>C (p.Ala534Pro)
4g.55443812C>TCA356915780CLOCK,TMEM165c.1777G>A (p.Ala593Thr)
c.353-8427C>T
n.359G>A
c.409-8427C>T
c.899-8427C>T (n.899-8427C>T)
c.1600G>A (p.Ala534Thr)
4g.55443813A>CCA439485233CLOCK,TMEM165c.1776T>G (p.Leu592=)
c.353-8426A>C
n.358T>G
c.409-8426A>C
c.899-8426A>C (n.899-8426A>C)
c.1599T>G (p.Leu533=)
4g.55443813A>GCA439485234CLOCK,TMEM165c.1776T>C (p.Leu592=)
c.353-8426A>G
n.358T>C
c.409-8426A>G
c.899-8426A>G (n.899-8426A>G)
c.1599T>C (p.Leu533=)
4g.55443813A>TCA439485235CLOCK,TMEM165c.1776T>A (p.Leu592=)
c.353-8426A>T
n.358T>A
c.409-8426A>T
c.899-8426A>T (n.899-8426A>T)
c.1599T>A (p.Leu533=)
4g.55443814A>CCA356915783CLOCK,TMEM165c.1775T>G (p.Leu592Arg)
c.353-8425A>C
n.357T>G
c.409-8425A>C
c.899-8425A>C (n.899-8425A>C)
c.1598T>G (p.Leu533Arg)
4g.55443814A>GCA356915788CLOCK,TMEM165c.1775T>C (p.Leu592Pro)
c.353-8425A>G
n.357T>C
c.409-8425A>G
c.899-8425A>G (n.899-8425A>G)
c.1598T>C (p.Leu533Pro)
4g.55443814A>TCA356915792CLOCK,TMEM165c.1775T>A (p.Leu592His)
c.353-8425A>T
n.357T>A
c.409-8425A>T
c.899-8425A>T (n.899-8425A>T)
c.1598T>A (p.Leu533His)
4g.55443814_55443815insTCA2670687917CLOCK,TMEM165c.1774_1775insA (p.Leu592HisfsTer14)
c.353-8425_353-8424insT
n.356_357insA
c.409-8425_409-8424insT
c.899-8425_899-8424insT (n.899-8425_899-8424insT)
c.1597_1598insA (p.Leu533HisfsTer14)
 gnomAD v4
4g.55443815G>ACA356915795CLOCK,TMEM165c.1774C>T (p.Leu592Phe)
c.353-8424G>A
n.356C>T
c.409-8424G>A
c.899-8424G>A (n.899-8424G>A)
c.1597C>T (p.Leu533Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.55443815G>CCA356915813CLOCK,TMEM165c.1774C>G (p.Leu592Val)
c.353-8424G>C
n.356C>G
c.409-8424G>C
c.899-8424G>C (n.899-8424G>C)
c.1597C>G (p.Leu533Val)
4g.55443815G=CA1459075228CLOCK,TMEM165c.1774C= (p.Leu592=)
c.353-8424G=
n.356C=
c.409-8424G=
c.899-8424G= (n.899-8424G=)
c.1597C= (p.Leu533=)
4g.55443815G>TCA356915817CLOCK,TMEM165c.1774C>A (p.Leu592Ile)
c.353-8424G>T
n.356C>A
c.409-8424G>T
c.899-8424G>T (n.899-8424G>T)
c.1597C>A (p.Leu533Ile)
4g.55443816T>ACA356915823CLOCK,TMEM165c.1773A>T (p.Gln591His)
c.353-8423T>A
n.355A>T
c.409-8423T>A
c.899-8423T>A (n.899-8423T>A)
c.1596A>T (p.Gln532His)
4g.55443816T>CCA439485237CLOCK,TMEM165c.1773A>G (p.Gln591=)
c.353-8423T>C
n.355A>G
c.409-8423T>C
c.899-8423T>C (n.899-8423T>C)
c.1596A>G (p.Gln532=)
4g.55443816T>GCA356915833CLOCK,TMEM165c.1773A>C (p.Gln591His)
c.353-8423T>G
n.355A>C
c.409-8423T>G
c.899-8423T>G (n.899-8423T>G)
c.1596A>C (p.Gln532His)
4g.55443817T>ACA356915841CLOCK,TMEM165c.1772A>T (p.Gln591Leu)
c.353-8422T>A
n.354A>T
c.409-8422T>A
c.899-8422T>A (n.899-8422T>A)
c.1595A>T (p.Gln532Leu)
4g.55443817T>CCA356915843CLOCK,TMEM165c.1772A>G (p.Gln591Arg)
c.353-8422T>C
n.354A>G
c.409-8422T>C
c.899-8422T>C (n.899-8422T>C)
c.1595A>G (p.Gln532Arg)
4g.55443817T>GCA356915847CLOCK,TMEM165c.1772A>C (p.Gln591Pro)
c.353-8422T>G
n.354A>C
c.409-8422T>G
c.899-8422T>G (n.899-8422T>G)
c.1595A>C (p.Gln532Pro)
4g.55443818G>ACA356915860CLOCK,TMEM165c.1771C>T (p.Gln591Ter)
c.353-8421G>A
n.353C>T
c.409-8421G>A
c.899-8421G>A (n.899-8421G>A)
c.1594C>T (p.Gln532Ter)
4g.55443818G>CCA356915864CLOCK,TMEM165c.1771C>G (p.Gln591Glu)
c.353-8421G>C
n.353C>G
c.409-8421G>C
c.899-8421G>C (n.899-8421G>C)
c.1594C>G (p.Gln532Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.55443818G=CA1459075230CLOCK,TMEM165c.1771C= (p.Gln591=)
c.353-8421G=
n.353C=
c.409-8421G=
c.899-8421G= (n.899-8421G=)
c.1594C= (p.Gln532=)
4g.55443818G>TCA356915872CLOCK,TMEM165c.1771C>A (p.Gln591Lys)
c.353-8421G>T
n.353C>A
c.409-8421G>T
c.899-8421G>T (n.899-8421G>T)
c.1594C>A (p.Gln532Lys)
4g.55443819C>ACA356915876CLOCK,TMEM165c.1770G>T (p.Gln590His)
c.353-8420C>A
n.352G>T
c.409-8420C>A
c.899-8420C>A (n.899-8420C>A)
c.1593G>T (p.Gln531His)
4g.55443819C>GCA356915878CLOCK,TMEM165c.1770G>C (p.Gln590His)
c.353-8420C>G
n.352G>C
c.409-8420C>G
c.899-8420C>G (n.899-8420C>G)
c.1593G>C (p.Gln531His)
4g.55443819C>TCA439485240CLOCK,TMEM165c.1770G>A (p.Gln590=)
c.353-8420C>T
n.352G>A
c.409-8420C>T
c.899-8420C>T (n.899-8420C>T)
c.1593G>A (p.Gln531=)
4g.55443820T>ACA356915885CLOCK,TMEM165c.1769A>T (p.Gln590Leu)
c.353-8419T>A
n.351A>T
c.409-8419T>A
c.899-8419T>A (n.899-8419T>A)
c.1592A>T (p.Gln531Leu)
4g.55443820T>CCA356915893CLOCK,TMEM165c.1769A>G (p.Gln590Arg)
c.353-8419T>C
n.351A>G
c.409-8419T>C
c.899-8419T>C (n.899-8419T>C)
c.1592A>G (p.Gln531Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.55443820T>GCA356915888CLOCK,TMEM165c.1769A>C (p.Gln590Pro)
c.353-8419T>G
n.351A>C
c.409-8419T>G
c.899-8419T>G (n.899-8419T>G)
c.1592A>C (p.Gln531Pro)
4g.55443820T=CA1459075231CLOCK,TMEM165c.1769A= (p.Gln590=)
c.353-8419T=
n.351A=
c.409-8419T=
c.899-8419T= (n.899-8419T=)
c.1592A= (p.Gln531=)
4g.55443821G>ACA356915900CLOCK,TMEM165c.1768C>T (p.Gln590Ter)
c.353-8418G>A
n.350C>T
c.409-8418G>A
c.899-8418G>A (n.899-8418G>A)
c.1591C>T (p.Gln531Ter)
4g.55443821G>CCA356915903CLOCK,TMEM165c.1768C>G (p.Gln590Glu)
c.353-8418G>C
n.350C>G
c.409-8418G>C
c.899-8418G>C (n.899-8418G>C)
c.1591C>G (p.Gln531Glu)
4g.55443821G=CA1459075233CLOCK,TMEM165c.1768C= (p.Gln590=)
c.353-8418G=
n.350C=
c.409-8418G=
c.899-8418G= (n.899-8418G=)
c.1591C= (p.Gln531=)
4g.55443821G>TCA356915915CLOCK,TMEM165c.1768C>A (p.Gln590Lys)
c.353-8418G>T
n.350C>A
c.409-8418G>T
c.899-8418G>T (n.899-8418G>T)
c.1591C>A (p.Gln531Lys)
4g.55443821_55443822insAAGCACA551651887CLOCK,TMEM165c.1767_1768insTGCTT (p.Gln590CysfsTer8)
c.353-8418_353-8417insAAGCA
n.349_350insTGCTT
c.409-8418_409-8417insAAGCA
c.899-8418_899-8417insAAGCA (n.899-8418_899-8417insAAGCA)
c.1590_1591insTGCTT (p.Gln531CysfsTer8)
 dbSNP gnomAD v2
4g.55443821_55443822insAAGCAGAAATAAAGCTCTAATCA2530707928CLOCK,TMEM165c.1767_1768insATTAGAGCTTTATTTCTGCTT (p.Ile589_Gln590insIleArgAlaLeuPheLeuLeu)
c.353-8418_353-8417insAAGCAGAAATAAAGCTCTAAT
n.349_350insATTAGAGCTTTATTTCTGCTT
c.409-8418_409-8417insAAGCAGAAATAAAGCTCTAAT
c.899-8418_899-8417insAAGCAGAAATAAAGCTCTAAT (n.899-8418_899-8417insAAGCAGAAATAAAGCTCTAAT)
c.1590_1591insATTAGAGCTTTATTTCTGCTT (p.Ile530_Gln531insIleArgAlaLeuPheLeuLeu)
4g.55443822G>ACA439485242CLOCK,TMEM165c.1767C>T (p.Ile589=)
c.353-8417G>A
n.349C>T
c.409-8417G>A
c.899-8417G>A (n.899-8417G>A)
c.1590C>T (p.Ile530=)
4g.55443822G>CCA356915918CLOCK,TMEM165c.1767C>G (p.Ile589Met)
c.353-8417G>C
n.349C>G
c.409-8417G>C
c.899-8417G>C (n.899-8417G>C)
c.1590C>G (p.Ile530Met)
 dbSNP gnomAD v2 gnomAD v4
4g.55443822G=CA1459075238CLOCK,TMEM165c.1767C= (p.Ile589=)
c.353-8417G=
n.349C=
c.409-8417G=
c.899-8417G= (n.899-8417G=)
c.1590C= (p.Ile530=)
4g.55443822G>TCA439485243CLOCK,TMEM165c.1767C>A (p.Ile589=)
c.353-8417G>T
n.349C>A
c.409-8417G>T
c.899-8417G>T (n.899-8417G>T)
c.1590C>A (p.Ile530=)
4g.55443823A>CCA356915921CLOCK,TMEM165c.1766T>G (p.Ile589Ser)
c.353-8416A>C
n.348T>G
c.409-8416A>C
c.899-8416A>C (n.899-8416A>C)
c.1589T>G (p.Ile530Ser)
4g.55443823A>GCA356915935CLOCK,TMEM165c.1766T>C (p.Ile589Thr)
c.353-8416A>G
n.348T>C
c.409-8416A>G
c.899-8416A>G (n.899-8416A>G)
c.1589T>C (p.Ile530Thr)
4g.55443823A>TCA356915934CLOCK,TMEM165c.1766T>A (p.Ile589Asn)
c.353-8416A>T
n.348T>A
c.409-8416A>T
c.899-8416A>T (n.899-8416A>T)
c.1589T>A (p.Ile530Asn)
4g.55443824T>ACA356915948CLOCK,TMEM165c.1765A>T (p.Ile589Phe)
c.353-8415T>A
n.347A>T
c.409-8415T>A
c.899-8415T>A (n.899-8415T>A)
c.1588A>T (p.Ile530Phe)
4g.55443824T>CCA2925817CLOCK,TMEM165c.1765A>G (p.Ile589Val)
c.353-8415T>C
n.347A>G
c.409-8415T>C
c.899-8415T>C (n.899-8415T>C)
c.1588A>G (p.Ile530Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443824T>GCA356915955CLOCK,TMEM165c.1765A>C (p.Ile589Leu)
c.353-8415T>G
n.347A>C
c.409-8415T>G
c.899-8415T>G (n.899-8415T>G)
c.1588A>C (p.Ile530Leu)
4g.55443824T=CA1459075242CLOCK,TMEM165c.1765A= (p.Ile589=)
c.353-8415T=
n.347A=
c.409-8415T=
c.899-8415T= (n.899-8415T=)
c.1588A= (p.Ile530=)
4g.55443825A=CA1459075244CLOCK,TMEM165c.1764T= (p.Asn588=)
c.353-8414A=
n.346T=
c.409-8414A=
c.899-8414A= (n.899-8414A=)
c.1587T= (p.Asn529=)
4g.55443825A>CCA356915959CLOCK,TMEM165c.1764T>G (p.Asn588Lys)
c.353-8414A>C
n.346T>G
c.409-8414A>C
c.899-8414A>C (n.899-8414A>C)
c.1587T>G (p.Asn529Lys)
 dbSNP gnomAD v4
4g.55443825A>GCA2925818CLOCK,TMEM165c.1764T>C (p.Asn588=)
c.353-8414A>G
n.346T>C
c.409-8414A>G
c.899-8414A>G (n.899-8414A>G)
c.1587T>C (p.Asn529=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443825A>TCA356915963CLOCK,TMEM165c.1764T>A (p.Asn588Lys)
c.353-8414A>T
n.346T>A
c.409-8414A>T
c.899-8414A>T (n.899-8414A>T)
c.1587T>A (p.Asn529Lys)
 gnomAD v4
4g.55443826T>ACA356915967CLOCK,TMEM165c.1763A>T (p.Asn588Ile)
c.353-8413T>A
n.345A>T
c.409-8413T>A
c.899-8413T>A (n.899-8413T>A)
c.1586A>T (p.Asn529Ile)
4g.55443826T>CCA356915973CLOCK,TMEM165c.1763A>G (p.Asn588Ser)
c.353-8413T>C
n.345A>G
c.409-8413T>C
c.899-8413T>C (n.899-8413T>C)
c.1586A>G (p.Asn529Ser)
 dbSNP
4g.55443826T>GCA356915976CLOCK,TMEM165c.1763A>C (p.Asn588Thr)
c.353-8413T>G
n.345A>C
c.409-8413T>G
c.899-8413T>G (n.899-8413T>G)
c.1586A>C (p.Asn529Thr)
4g.55443826T=CA1459075246CLOCK,TMEM165c.1763A= (p.Asn588=)
c.353-8413T=
n.345A=
c.409-8413T=
c.899-8413T= (n.899-8413T=)
c.1586A= (p.Asn529=)
4g.55443827T>ACA356915980CLOCK,TMEM165c.1762A>T (p.Asn588Tyr)
c.353-8412T>A
n.344A>T
c.409-8412T>A
c.899-8412T>A (n.899-8412T>A)
c.1585A>T (p.Asn529Tyr)
4g.55443827T>CCA356915985CLOCK,TMEM165c.1762A>G (p.Asn588Asp)
c.353-8412T>C
n.344A>G
c.409-8412T>C
c.899-8412T>C (n.899-8412T>C)
c.1585A>G (p.Asn529Asp)
4g.55443827T>GCA356915991CLOCK,TMEM165c.1762A>C (p.Asn588His)
c.353-8412T>G
n.344A>C
c.409-8412T>G
c.899-8412T>G (n.899-8412T>G)
c.1585A>C (p.Asn529His)
4g.55443828A>CCA439485251CLOCK,TMEM165c.1761T>G (p.Ser587=)
c.353-8411A>C
n.343T>G
c.409-8411A>C
c.899-8411A>C (n.899-8411A>C)
c.1584T>G (p.Ser528=)
4g.55443828A>GCA439485252CLOCK,TMEM165c.1761T>C (p.Ser587=)
c.353-8411A>G
n.343T>C
c.409-8411A>G
c.899-8411A>G (n.899-8411A>G)
c.1584T>C (p.Ser528=)
4g.55443828A>TCA439485253CLOCK,TMEM165c.1761T>A (p.Ser587=)
c.353-8411A>T
n.343T>A
c.409-8411A>T
c.899-8411A>T (n.899-8411A>T)
c.1584T>A (p.Ser528=)
4g.55443829G>ACA356916005CLOCK,TMEM165c.1760C>T (p.Ser587Phe)
c.353-8410G>A
n.342C>T
c.409-8410G>A
c.899-8410G>A (n.899-8410G>A)
c.1583C>T (p.Ser528Phe)
4g.55443829G>CCA356915997CLOCK,TMEM165c.1760C>G (p.Ser587Cys)
c.353-8410G>C
n.342C>G
c.409-8410G>C
c.899-8410G>C (n.899-8410G>C)
c.1583C>G (p.Ser528Cys)
4g.55443829G>TCA356916001CLOCK,TMEM165c.1760C>A (p.Ser587Tyr)
c.353-8410G>T
n.342C>A
c.409-8410G>T
c.899-8410G>T (n.899-8410G>T)
c.1583C>A (p.Ser528Tyr)
4g.55443831_55443833delCA2578091690CLOCK,TMEM165c.1758_1760del (p.Ser587del)
c.353-8408_353-8406del
n.340_342del
c.409-8408_409-8406del
c.899-8408_899-8406del (n.899-8408_899-8406del)
c.1581_1583del (p.Ser528del)
4g.55443830A>CCA356916006CLOCK,TMEM165c.1759T>G (p.Ser587Ala)
c.353-8409A>C
n.341T>G
c.409-8409A>C
c.899-8409A>C (n.899-8409A>C)
c.1582T>G (p.Ser528Ala)
4g.55443830A>GCA356916007CLOCK,TMEM165c.1759T>C (p.Ser587Pro)
c.353-8409A>G
n.341T>C
c.409-8409A>G
c.899-8409A>G (n.899-8409A>G)
c.1582T>C (p.Ser528Pro)
4g.55443830A>TCA356916008CLOCK,TMEM165c.1759T>A (p.Ser587Thr)
c.353-8409A>T
n.341T>A
c.409-8409A>T
c.899-8409A>T (n.899-8409A>T)
c.1582T>A (p.Ser528Thr)
4g.55443831T>ACA439485255CLOCK,TMEM165c.1758A>T (p.Ser586=)
c.353-8408T>A
n.340A>T
c.409-8408T>A
c.899-8408T>A (n.899-8408T>A)
c.1581A>T (p.Ser527=)
 dbSNP gnomAD v3 gnomAD v4
4g.55443831T>CCA439485256CLOCK,TMEM165c.1758A>G (p.Ser586=)
c.353-8408T>C
n.340A>G
c.409-8408T>C
c.899-8408T>C (n.899-8408T>C)
c.1581A>G (p.Ser527=)
4g.55443831T>GCA439485257CLOCK,TMEM165c.1758A>C (p.Ser586=)
c.353-8408T>G
n.340A>C
c.409-8408T>G
c.899-8408T>G (n.899-8408T>G)
c.1581A>C (p.Ser527=)
4g.55443832G>ACA356916011CLOCK,TMEM165c.1757C>T (p.Ser586Leu)
c.353-8407G>A
n.339C>T
c.409-8407G>A
c.899-8407G>A (n.899-8407G>A)
c.1580C>T (p.Ser527Leu)
4g.55443832G>CCA356916018CLOCK,TMEM165c.1757C>G (p.Ser586Ter)
c.353-8407G>C
n.339C>G
c.409-8407G>C
c.899-8407G>C (n.899-8407G>C)
c.1580C>G (p.Ser527Ter)
4g.55443832G>TCA356916022CLOCK,TMEM165c.1757C>A (p.Ser586Ter)
c.353-8407G>T
n.339C>A
c.409-8407G>T
c.899-8407G>T (n.899-8407G>T)
c.1580C>A (p.Ser527Ter)
4g.55443833A>CCA356916029CLOCK,TMEM165c.1756T>G (p.Ser586Ala)
c.353-8406A>C
n.338T>G
c.409-8406A>C
c.899-8406A>C (n.899-8406A>C)
c.1579T>G (p.Ser527Ala)
4g.55443833A>GCA356916027CLOCK,TMEM165c.1756T>C (p.Ser586Pro)
c.353-8406A>G
n.338T>C
c.409-8406A>G
c.899-8406A>G (n.899-8406A>G)
c.1579T>C (p.Ser527Pro)
4g.55443833A>TCA356916028CLOCK,TMEM165c.1756T>A (p.Ser586Thr)
c.353-8406A>T
n.338T>A
c.409-8406A>T
c.899-8406A>T (n.899-8406A>T)
c.1579T>A (p.Ser527Thr)
4g.55443834A>CCA356916030CLOCK,TMEM165c.1755T>G (p.Asn585Lys)
c.353-8405A>C
n.337T>G
c.409-8405A>C
c.899-8405A>C (n.899-8405A>C)
c.1578T>G (p.Asn526Lys)
4g.55443834A>GCA439485258CLOCK,TMEM165c.1755T>C (p.Asn585=)
c.353-8405A>G
n.337T>C
c.409-8405A>G
c.899-8405A>G (n.899-8405A>G)
c.1578T>C (p.Asn526=)
4g.55443834A>TCA356916033CLOCK,TMEM165c.1755T>A (p.Asn585Lys)
c.353-8405A>T
n.337T>A
c.409-8405A>T
c.899-8405A>T (n.899-8405A>T)
c.1578T>A (p.Asn526Lys)
4g.55443835T>ACA356916037CLOCK,TMEM165c.1754A>T (p.Asn585Ile)
c.353-8404T>A
n.336A>T
c.409-8404T>A
c.899-8404T>A (n.899-8404T>A)
c.1577A>T (p.Asn526Ile)
4g.55443835T>CCA356916038CLOCK,TMEM165c.1754A>G (p.Asn585Ser)
c.353-8404T>C
n.336A>G
c.409-8404T>C
c.899-8404T>C (n.899-8404T>C)
c.1577A>G (p.Asn526Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.55443835T>GCA356916039CLOCK,TMEM165c.1754A>C (p.Asn585Thr)
c.353-8404T>G
n.336A>C
c.409-8404T>G
c.899-8404T>G (n.899-8404T>G)
c.1577A>C (p.Asn526Thr)
4g.55443835T=CA1459075248CLOCK,TMEM165c.1754A= (p.Asn585=)
c.353-8404T=
n.336A=
c.409-8404T=
c.899-8404T= (n.899-8404T=)
c.1577A= (p.Asn526=)
4g.55443836T>ACA356916044CLOCK,TMEM165c.1753A>T (p.Asn585Tyr)
c.353-8403T>A
n.335A>T
c.409-8403T>A
c.899-8403T>A (n.899-8403T>A)
c.1576A>T (p.Asn526Tyr)
4g.55443836T>CCA356916040CLOCK,TMEM165c.1753A>G (p.Asn585Asp)
c.353-8403T>C
n.335A>G
c.409-8403T>C
c.899-8403T>C (n.899-8403T>C)
c.1576A>G (p.Asn526Asp)
4g.55443836T>GCA356916042CLOCK,TMEM165c.1753A>C (p.Asn585His)
c.353-8403T>G
n.335A>C
c.409-8403T>G
c.899-8403T>G (n.899-8403T>G)
c.1576A>C (p.Asn526His)
4g.55443837T>ACA439485261CLOCK,TMEM165c.1752A>T (p.Gly584=)
c.353-8402T>A
n.334A>T
c.409-8402T>A
c.899-8402T>A (n.899-8402T>A)
c.1575A>T (p.Gly525=)
4g.55443837T>CCA439485263CLOCK,TMEM165c.1752A>G (p.Gly584=)
c.353-8402T>C
n.334A>G
c.409-8402T>C
c.899-8402T>C (n.899-8402T>C)
c.1575A>G (p.Gly525=)
4g.55443837T>GCA439485262CLOCK,TMEM165c.1752A>C (p.Gly584=)
c.353-8402T>G
n.334A>C
c.409-8402T>G
c.899-8402T>G (n.899-8402T>G)
c.1575A>C (p.Gly525=)
4g.55443838C>ACA356916054CLOCK,TMEM165c.1751G>T (p.Gly584Val)
c.353-8401C>A
n.333G>T
c.409-8401C>A
c.899-8401C>A (n.899-8401C>A)
c.1574G>T (p.Gly525Val)
4g.55443838C>GCA356916057CLOCK,TMEM165c.1751G>C (p.Gly584Ala)
c.353-8401C>G
n.333G>C
c.409-8401C>G
c.899-8401C>G (n.899-8401C>G)
c.1574G>C (p.Gly525Ala)
4g.55443838C>TCA356916060CLOCK,TMEM165c.1751G>A (p.Gly584Glu)
c.353-8401C>T
n.333G>A
c.409-8401C>T
c.899-8401C>T (n.899-8401C>T)
c.1574G>A (p.Gly525Glu)
4g.55443839C>ACA356916063CLOCK,TMEM165c.1750G>T (p.Gly584Ter)
c.353-8400C>A
n.332G>T
c.409-8400C>A
c.899-8400C>A (n.899-8400C>A)
c.1573G>T (p.Gly525Ter)
4g.55443839C>GCA356916069CLOCK,TMEM165c.1750G>C (p.Gly584Arg)
c.353-8400C>G
n.332G>C
c.409-8400C>G
c.899-8400C>G (n.899-8400C>G)
c.1573G>C (p.Gly525Arg)
4g.55443839C>TCA356916072CLOCK,TMEM165c.1750G>A (p.Gly584Arg)
c.353-8400C>T
n.332G>A
c.409-8400C>T
c.899-8400C>T (n.899-8400C>T)
c.1573G>A (p.Gly525Arg)
4g.55443840A>CCA439485264CLOCK,TMEM165c.1749T>G (p.Ser583=)
c.353-8399A>C
n.331T>G
c.409-8399A>C
c.899-8399A>C (n.899-8399A>C)
c.1572T>G (p.Ser524=)
4g.55443840A>GCA439485266CLOCK,TMEM165c.1749T>C (p.Ser583=)
c.353-8399A>G
n.331T>C
c.409-8399A>G
c.899-8399A>G (n.899-8399A>G)
c.1572T>C (p.Ser524=)
 gnomAD v4
4g.55443840A>TCA439485267CLOCK,TMEM165c.1749T>A (p.Ser583=)
c.353-8399A>T
n.331T>A
c.409-8399A>T
c.899-8399A>T (n.899-8399A>T)
c.1572T>A (p.Ser524=)
4g.55443841G>ACA356916080CLOCK,TMEM165c.1748C>T (p.Ser583Phe)
c.353-8398G>A
n.330C>T
c.409-8398G>A
c.899-8398G>A (n.899-8398G>A)
c.1571C>T (p.Ser524Phe)
4g.55443841G>CCA356916081CLOCK,TMEM165c.1748C>G (p.Ser583Cys)
c.353-8398G>C
n.330C>G
c.409-8398G>C
c.899-8398G>C (n.899-8398G>C)
c.1571C>G (p.Ser524Cys)
4g.55443841G>TCA356916087CLOCK,TMEM165c.1748C>A (p.Ser583Tyr)
c.353-8398G>T
n.330C>A
c.409-8398G>T
c.899-8398G>T (n.899-8398G>T)
c.1571C>A (p.Ser524Tyr)
4g.55443842A=CA1459075252CLOCK,TMEM165c.1747T= (p.Ser583=)
c.353-8397A=
n.329T=
c.409-8397A=
c.899-8397A= (n.899-8397A=)
c.1570T= (p.Ser524=)
4g.55443842A>CCA2925819CLOCK,TMEM165c.1747T>G (p.Ser583Ala)
c.353-8397A>C
n.329T>G
c.409-8397A>C
c.899-8397A>C (n.899-8397A>C)
c.1570T>G (p.Ser524Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443842A>GCA356916094CLOCK,TMEM165c.1747T>C (p.Ser583Pro)
c.353-8397A>G
n.329T>C
c.409-8397A>G
c.899-8397A>G (n.899-8397A>G)
c.1570T>C (p.Ser524Pro)
4g.55443842A>TCA356916097CLOCK,TMEM165c.1747T>A (p.Ser583Thr)
c.353-8397A>T
n.329T>A
c.409-8397A>T
c.899-8397A>T (n.899-8397A>T)
c.1570T>A (p.Ser524Thr)
4g.55443843A>CCA439485268CLOCK,TMEM165c.1746T>G (p.Ser582=)
c.353-8396A>C
n.328T>G
c.409-8396A>C
c.899-8396A>C (n.899-8396A>C)
c.1569T>G (p.Ser523=)
 gnomAD v4
4g.55443843A>GCA439485270CLOCK,TMEM165c.1746T>C (p.Ser582=)
c.353-8396A>G
n.328T>C
c.409-8396A>G
c.899-8396A>G (n.899-8396A>G)
c.1569T>C (p.Ser523=)
 dbSNP gnomAD v4
4g.55443843A>TCA439485269CLOCK,TMEM165c.1746T>A (p.Ser582=)
c.353-8396A>T
n.328T>A
c.409-8396A>T
c.899-8396A>T (n.899-8396A>T)
c.1569T>A (p.Ser523=)
4g.55443844G>ACA356916099CLOCK,TMEM165c.1745C>T (p.Ser582Phe)
c.353-8395G>A
n.327C>T
c.409-8395G>A
c.899-8395G>A (n.899-8395G>A)
c.1568C>T (p.Ser523Phe)
4g.55443844G>CCA356916111CLOCK,TMEM165c.1745C>G (p.Ser582Cys)
c.353-8395G>C
n.327C>G
c.409-8395G>C
c.899-8395G>C (n.899-8395G>C)
c.1568C>G (p.Ser523Cys)
4g.55443844G>TCA356916103CLOCK,TMEM165c.1745C>A (p.Ser582Tyr)
c.353-8395G>T
n.327C>A
c.409-8395G>T
c.899-8395G>T (n.899-8395G>T)
c.1568C>A (p.Ser523Tyr)
 gnomAD v4
4g.55443845A>CCA356916115CLOCK,TMEM165c.1744T>G (p.Ser582Ala)
c.353-8394A>C
n.326T>G
c.409-8394A>C
c.899-8394A>C (n.899-8394A>C)
c.1567T>G (p.Ser523Ala)
4g.55443845A>GCA356916124CLOCK,TMEM165c.1744T>C (p.Ser582Pro)
c.353-8394A>G
n.326T>C
c.409-8394A>G
c.899-8394A>G (n.899-8394A>G)
c.1567T>C (p.Ser523Pro)
4g.55443845A>TCA356916119CLOCK,TMEM165c.1744T>A (p.Ser582Thr)
c.353-8394A>T
n.326T>A
c.409-8394A>T
c.899-8394A>T (n.899-8394A>T)
c.1567T>A (p.Ser523Thr)
4g.55443847delCA2670687918CLOCK,TMEM165c.1744del (p.Ser582LeufsTer14)
c.353-8392del
n.326del
c.409-8392del
c.899-8392del (n.899-8392del)
c.1567del (p.Ser523LeufsTer14)
 gnomAD v4
4g.55443846A>CCA439485274CLOCK,TMEM165c.1743T>G (p.Leu581=)
c.353-8393A>C
n.325T>G
c.409-8393A>C
c.899-8393A>C (n.899-8393A>C)
c.1566T>G (p.Leu522=)
 gnomAD v4
4g.55443846A>GCA439485275CLOCK,TMEM165c.1743T>C (p.Leu581=)
c.353-8393A>G
n.325T>C
c.409-8393A>G
c.899-8393A>G (n.899-8393A>G)
c.1566T>C (p.Leu522=)
4g.55443846A>TCA439485276CLOCK,TMEM165c.1743T>A (p.Leu581=)
c.353-8393A>T
n.325T>A
c.409-8393A>T
c.899-8393A>T (n.899-8393A>T)
c.1566T>A (p.Leu522=)
4g.55443847A>CCA356916130CLOCK,TMEM165c.1742T>G (p.Leu581Arg)
c.353-8392A>C
n.324T>G
c.409-8392A>C
c.899-8392A>C (n.899-8392A>C)
c.1565T>G (p.Leu522Arg)
4g.55443847A>GCA356916134CLOCK,TMEM165c.1742T>C (p.Leu581Pro)
c.353-8392A>G
n.324T>C
c.409-8392A>G
c.899-8392A>G (n.899-8392A>G)
c.1565T>C (p.Leu522Pro)
4g.55443847A>TCA356916135CLOCK,TMEM165c.1742T>A (p.Leu581His)
c.353-8392A>T
n.324T>A
c.409-8392A>T
c.899-8392A>T (n.899-8392A>T)
c.1565T>A (p.Leu522His)
4g.55443848G>ACA2925820CLOCK,TMEM165c.1741C>T (p.Leu581Phe)
c.353-8391G>A
n.323C>T
c.409-8391G>A
c.899-8391G>A (n.899-8391G>A)
c.1564C>T (p.Leu522Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443848G>CCA356916136CLOCK,TMEM165c.1741C>G (p.Leu581Val)
c.353-8391G>C
n.323C>G
c.409-8391G>C
c.899-8391G>C (n.899-8391G>C)
c.1564C>G (p.Leu522Val)
 gnomAD v4
4g.55443848G=CA1459075255CLOCK,TMEM165c.1741C= (p.Leu581=)
c.353-8391G=
n.323C=
c.409-8391G=
c.899-8391G= (n.899-8391G=)
c.1564C= (p.Leu522=)
4g.55443848G>TCA356916138CLOCK,TMEM165c.1741C>A (p.Leu581Ile)
c.353-8391G>T
n.323C>A
c.409-8391G>T
c.899-8391G>T (n.899-8391G>T)
c.1564C>A (p.Leu522Ile)
4g.55443849T>ACA356916141CLOCK,TMEM165c.1740A>T (p.Gln580His)
c.353-8390T>A
n.322A>T
c.409-8390T>A
c.899-8390T>A (n.899-8390T>A)
c.1563A>T (p.Gln521His)
4g.55443849T>CCA2925821CLOCK,TMEM165c.1740A>G (p.Gln580=)
c.353-8390T>C
n.322A>G
c.409-8390T>C
c.899-8390T>C (n.899-8390T>C)
c.1563A>G (p.Gln521=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.55443849T>GCA356916146CLOCK,TMEM165c.1740A>C (p.Gln580His)
c.353-8390T>G
n.322A>C
c.409-8390T>G
c.899-8390T>G (n.899-8390T>G)
c.1563A>C (p.Gln521His)
 gnomAD v4
4g.55443849T=CA1459075257CLOCK,TMEM165c.1740A= (p.Gln580=)
c.353-8390T=
n.322A=
c.409-8390T=
c.899-8390T= (n.899-8390T=)
c.1563A= (p.Gln521=)
4g.55443850T>ACA356916160CLOCK,TMEM165c.1739A>T (p.Gln580Leu)
c.353-8389T>A
n.321A>T
c.409-8389T>A
c.899-8389T>A (n.899-8389T>A)
c.1562A>T (p.Gln521Leu)
4g.55443850T>CCA356916169CLOCK,TMEM165c.1739A>G (p.Gln580Arg)
c.353-8389T>C
n.321A>G
c.409-8389T>C
c.899-8389T>C (n.899-8389T>C)
c.1562A>G (p.Gln521Arg)
 gnomAD v4
4g.55443850T>GCA356916171CLOCK,TMEM165c.1739A>C (p.Gln580Pro)
c.353-8389T>G
n.321A>C
c.409-8389T>G
c.899-8389T>G (n.899-8389T>G)
c.1562A>C (p.Gln521Pro)
4g.55443850_55443851insACA2761734805CLOCK,TMEM165c.1738_1739insT (p.Gln580LeufsTer9)
c.353-8389_353-8388insA
n.320_321insT
c.409-8389_409-8388insA
c.899-8389_899-8388insA (n.899-8389_899-8388insA)
c.1561_1562insT (p.Gln521LeufsTer9)
4g.55443851G>ACA356916177CLOCK,TMEM165c.1738C>T (p.Gln580Ter)
c.353-8388G>A
n.320C>T
c.409-8388G>A
c.899-8388G>A (n.899-8388G>A)
c.1561C>T (p.Gln521Ter)
4g.55443851G>CCA356916197CLOCK,TMEM165c.1738C>G (p.Gln580Glu)
c.353-8388G>C
n.320C>G
c.409-8388G>C
c.899-8388G>C (n.899-8388G>C)
c.1561C>G (p.Gln521Glu)
4g.55443851G>TCA356916180CLOCK,TMEM165c.1738C>A (p.Gln580Lys)
c.353-8388G>T
n.320C>A
c.409-8388G>T
c.899-8388G>T (n.899-8388G>T)
c.1561C>A (p.Gln521Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.55443852A>CCA439485281CLOCK,TMEM165c.1737T>G (p.Val579=)
c.353-8387A>C
n.319T>G
c.409-8387A>C
c.899-8387A>C (n.899-8387A>C)
c.1560T>G (p.Val520=)
4g.55443852A>GCA439485279CLOCK,TMEM165c.1737T>C (p.Val579=)
c.353-8387A>G
n.319T>C
c.409-8387A>G
c.899-8387A>G (n.899-8387A>G)
c.1560T>C (p.Val520=)
4g.55443852A>TCA439485280CLOCK,TMEM165c.1737T>A (p.Val579=)
c.353-8387A>T
n.319T>A
c.409-8387A>T
c.899-8387A>T (n.899-8387A>T)
c.1560T>A (p.Val520=)
4g.55443853A>CCA356916202CLOCK,TMEM165c.1736T>G (p.Val579Gly)
c.353-8386A>C
n.318T>G
c.409-8386A>C
c.899-8386A>C (n.899-8386A>C)
c.1559T>G (p.Val520Gly)
4g.55443853A>GCA356916205CLOCK,TMEM165c.1736T>C (p.Val579Ala)
c.353-8386A>G
n.318T>C
c.409-8386A>G
c.899-8386A>G (n.899-8386A>G)
c.1559T>C (p.Val520Ala)
4g.55443853A>TCA356916209CLOCK,TMEM165c.1736T>A (p.Val579Asp)
c.353-8386A>T
n.318T>A
c.409-8386A>T
c.899-8386A>T (n.899-8386A>T)
c.1559T>A (p.Val520Asp)
4g.55443854C>ACA356916212CLOCK,TMEM165c.1735G>T (p.Val579Phe)
c.353-8385C>A
n.317G>T
c.409-8385C>A
c.899-8385C>A (n.899-8385C>A)
c.1558G>T (p.Val520Phe)
 dbSNP
4g.55443854C=CA1459075259CLOCK,TMEM165c.1735G= (p.Val579=)
c.353-8385C=
n.317G=
c.409-8385C=
c.899-8385C= (n.899-8385C=)
c.1558G= (p.Val520=)
4g.55443854C>GCA356916218CLOCK,TMEM165c.1735G>C (p.Val579Leu)
c.353-8385C>G
n.317G>C
c.409-8385C>G
c.899-8385C>G (n.899-8385C>G)
c.1558G>C (p.Val520Leu)
4g.55443854C>TCA356916227CLOCK,TMEM165c.1735G>A (p.Val579Ile)
c.353-8385C>T
n.317G>A
c.409-8385C>T
c.899-8385C>T (n.899-8385C>T)
c.1558G>A (p.Val520Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.55443855G>ACA96904800CLOCK,TMEM165c.1734C>T (p.Ser578=)
c.353-8384G>A
n.316C>T
c.409-8384G>A
c.899-8384G>A (n.899-8384G>A)
c.1557C>T (p.Ser519=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.55443855G>CCA439485282CLOCK,TMEM165c.1734C>G (p.Ser578=)
c.353-8384G>C
n.316C>G
c.409-8384G>C
c.899-8384G>C (n.899-8384G>C)
c.1557C>G (p.Ser519=)
4g.55443855G=CA1459075262CLOCK,TMEM165c.1734C= (p.Ser578=)
c.353-8384G=
n.316C=
c.409-8384G=
c.899-8384G= (n.899-8384G=)
c.1557C= (p.Ser519=)
4g.55443855G>TCA439485283CLOCK,TMEM165c.1734C>A (p.Ser578=)
c.353-8384G>T
n.316C>A
c.409-8384G>T
c.899-8384G>T (n.899-8384G>T)
c.1557C>A (p.Ser519=)
4g.55443856G>ACA356916236CLOCK,TMEM165c.1733C>T (p.Ser578Phe)
c.353-8383G>A
n.315C>T
c.409-8383G>A
c.899-8383G>A (n.899-8383G>A)
c.1556C>T (p.Ser519Phe)
4g.55443856G>CCA356916239CLOCK,TMEM165c.1733C>G (p.Ser578Cys)
c.353-8383G>C
n.315C>G
c.409-8383G>C
c.899-8383G>C (n.899-8383G>C)
c.1556C>G (p.Ser519Cys)
4g.55443856G>TCA356916241CLOCK,TMEM165c.1733C>A (p.Ser578Tyr)
c.353-8383G>T
n.315C>A
c.409-8383G>T
c.899-8383G>T (n.899-8383G>T)
c.1556C>A (p.Ser519Tyr)
4g.55443857A>CCA356916254CLOCK,TMEM165c.1732T>G (p.Ser578Ala)
c.353-8382A>C
n.314T>G
c.409-8382A>C
c.899-8382A>C (n.899-8382A>C)
c.1555T>G (p.Ser519Ala)
4g.55443857A>GCA356916256CLOCK,TMEM165c.1732T>C (p.Ser578Pro)
c.353-8382A>G
n.314T>C
c.409-8382A>G
c.899-8382A>G (n.899-8382A>G)
c.1555T>C (p.Ser519Pro)
4g.55443857A>TCA356916246CLOCK,TMEM165c.1732T>A (p.Ser578Thr)
c.353-8382A>T
n.314T>A
c.409-8382A>T
c.899-8382A>T (n.899-8382A>T)
c.1555T>A (p.Ser519Thr)
4g.55443858A>CCA439485286CLOCK,TMEM165c.1731T>G (p.Gly577=)
c.353-8381A>C
n.313T>G
c.409-8381A>C
c.899-8381A>C (n.899-8381A>C)
c.1554T>G (p.Gly518=)
4g.55443858A>GCA439485285CLOCK,TMEM165c.1731T>C (p.Gly577=)
c.353-8381A>G
n.313T>C
c.409-8381A>G
c.899-8381A>G (n.899-8381A>G)
c.1554T>C (p.Gly518=)
4g.55443858A>TCA439485287CLOCK,TMEM165c.1731T>A (p.Gly577=)
c.353-8381A>T
n.313T>A
c.409-8381A>T
c.899-8381A>T (n.899-8381A>T)
c.1554T>A (p.Gly518=)
4g.55443859C>ACA356916259CLOCK,TMEM165c.1730G>T (p.Gly577Val)
c.353-8380C>A
n.312G>T
c.409-8380C>A
c.899-8380C>A (n.899-8380C>A)
c.1553G>T (p.Gly518Val)
4g.55443859C>GCA356916260CLOCK,TMEM165c.1730G>C (p.Gly577Ala)
c.353-8380C>G
n.312G>C
c.409-8380C>G
c.899-8380C>G (n.899-8380C>G)
c.1553G>C (p.Gly518Ala)
4g.55443859C>TCA356916263CLOCK,TMEM165c.1730G>A (p.Gly577Asp)
c.353-8380C>T
n.312G>A
c.409-8380C>T
c.899-8380C>T (n.899-8380C>T)
c.1553G>A (p.Gly518Asp)
4g.55443860C>ACA356916268CLOCK,TMEM165c.1729G>T (p.Gly577Cys)
c.353-8379C>A
n.311G>T
c.409-8379C>A
c.899-8379C>A (n.899-8379C>A)
c.1552G>T (p.Gly518Cys)
4g.55443860C>GCA356916283CLOCK,TMEM165c.1729G>C (p.Gly577Arg)
c.353-8379C>G
n.311G>C
c.409-8379C>G
c.899-8379C>G (n.899-8379C>G)
c.1552G>C (p.Gly518Arg)
4g.55443860C>TCA356916289CLOCK,TMEM165c.1729G>A (p.Gly577Ser)
c.353-8379C>T
n.311G>A
c.409-8379C>T
c.899-8379C>T (n.899-8379C>T)
c.1552G>A (p.Gly518Ser)
4g.55443861A>CCA356916293CLOCK,TMEM165c.1728T>G (p.Phe576Leu)
c.353-8378A>C
n.310T>G
c.409-8378A>C
c.899-8378A>C (n.899-8378A>C)
c.1551T>G (p.Phe517Leu)
4g.55443861A>GCA439485288CLOCK,TMEM165c.1728T>C (p.Phe576=)
c.353-8378A>G
n.310T>C
c.409-8378A>G
c.899-8378A>G (n.899-8378A>G)
c.1551T>C (p.Phe517=)
4g.55443861A>TCA356916296CLOCK,TMEM165c.1728T>A (p.Phe576Leu)
c.353-8378A>T
n.310T>A
c.409-8378A>T
c.899-8378A>T (n.899-8378A>T)
c.1551T>A (p.Phe517Leu)
4g.55443862A>CCA356916300CLOCK,TMEM165c.1727T>G (p.Phe576Cys)
c.353-8377A>C
n.309T>G
c.409-8377A>C
c.899-8377A>C (n.899-8377A>C)
c.1550T>G (p.Phe517Cys)
4g.55443862A>GCA356916301CLOCK,TMEM165c.1727T>C (p.Phe576Ser)
c.353-8377A>G
n.309T>C
c.409-8377A>G
c.899-8377A>G (n.899-8377A>G)
c.1550T>C (p.Phe517Ser)
4g.55443862A>TCA356916302CLOCK,TMEM165c.1727T>A (p.Phe576Tyr)
c.353-8377A>T
n.309T>A
c.409-8377A>T
c.899-8377A>T (n.899-8377A>T)
c.1550T>A (p.Phe517Tyr)
4g.55443863A>CCA356916303CLOCK,TMEM165c.1726T>G (p.Phe576Val)
c.353-8376A>C
n.308T>G
c.409-8376A>C
c.899-8376A>C (n.899-8376A>C)
c.1549T>G (p.Phe517Val)
4g.55443863A>GCA356916304CLOCK,TMEM165c.1726T>C (p.Phe576Leu)
c.353-8376A>G
n.308T>C
c.409-8376A>G
c.899-8376A>G (n.899-8376A>G)
c.1549T>C (p.Phe517Leu)
4g.55443863A>TCA356916305CLOCK,TMEM165c.1726T>A (p.Phe576Ile)
c.353-8376A>T
n.308T>A
c.409-8376A>T
c.899-8376A>T (n.899-8376A>T)
c.1549T>A (p.Phe517Ile)
4g.55443863_55443864insCACCA2761734806CLOCK,TMEM165c.1725_1726insGTG (p.Asn575_Phe576insVal)
c.353-8376_353-8375insCAC
n.307_308insGTG
c.409-8376_409-8375insCAC
c.899-8376_899-8375insCAC (n.899-8376_899-8375insCAC)
c.1548_1549insGTG (p.Asn516_Phe517insVal)
4g.55443864A=CA1459075265CLOCK,TMEM165c.1725T= (p.Asn575=)
c.353-8375A=
n.307T=
c.409-8375A=
c.899-8375A= (n.899-8375A=)
c.1548T= (p.Asn516=)
4g.55443864A>CCA356916308CLOCK,TMEM165c.1725T>G (p.Asn575Lys)
c.353-8375A>C
n.307T>G
c.409-8375A>C
c.899-8375A>C (n.899-8375A>C)
c.1548T>G (p.Asn516Lys)
4g.55443864A>GCA96904804CLOCK,TMEM165c.1725T>C (p.Asn575=)
c.353-8375A>G
n.307T>C
c.409-8375A>G
c.899-8375A>G (n.899-8375A>G)
c.1548T>C (p.Asn516=)
 dbSNP gnomAD v3 gnomAD v4
4g.55443864A>TCA356916312CLOCK,TMEM165c.1725T>A (p.Asn575Lys)
c.353-8375A>T
n.307T>A
c.409-8375A>T
c.899-8375A>T (n.899-8375A>T)
c.1548T>A (p.Asn516Lys)
 dbSNP
4g.55443865T>ACA356916313CLOCK,TMEM165c.1724A>T (p.Asn575Ile)
c.353-8374T>A
n.306A>T
c.409-8374T>A
c.899-8374T>A (n.899-8374T>A)
c.1547A>T (p.Asn516Ile)
4g.55443865T>CCA356916318CLOCK,TMEM165c.1724A>G (p.Asn575Ser)
c.353-8374T>C
n.306A>G
c.409-8374T>C
c.899-8374T>C (n.899-8374T>C)
c.1547A>G (p.Asn516Ser)
 gnomAD v4
4g.55443865T>GCA356916320CLOCK,TMEM165c.1724A>C (p.Asn575Thr)
c.353-8374T>G
n.306A>C
c.409-8374T>G
c.899-8374T>G (n.899-8374T>G)
c.1547A>C (p.Asn516Thr)
4g.55443866T>ACA356916324CLOCK,TMEM165c.1723A>T (p.Asn575Tyr)
c.353-8373T>A
n.305A>T
c.409-8373T>A
c.899-8373T>A (n.899-8373T>A)
c.1546A>T (p.Asn516Tyr)
 dbSNP
4g.55443866T>CCA356916325CLOCK,TMEM165c.1723A>G (p.Asn575Asp)
c.353-8373T>C
n.305A>G
c.409-8373T>C
c.899-8373T>C (n.899-8373T>C)
c.1546A>G (p.Asn516Asp)
4g.55443866T>GCA356916326CLOCK,TMEM165c.1723A>C (p.Asn575His)
c.353-8373T>G
n.305A>C
c.409-8373T>G
c.899-8373T>G (n.899-8373T>G)
c.1546A>C (p.Asn516His)
4g.55443866T=CA1459075272CLOCK,TMEM165c.1723A= (p.Asn575=)
c.353-8373T=
n.305A=
c.409-8373T=
c.899-8373T= (n.899-8373T=)
c.1546A= (p.Asn516=)
4g.55443866_55443867insACA796425188CLOCK,TMEM165c.1722_1723insT (p.Asn575Ter)
c.353-8373_353-8372insA
n.304_305insT
c.409-8373_409-8372insA
c.899-8373_899-8372insA (n.899-8373_899-8372insA)
c.1545_1546insT (p.Asn516Ter)
 dbSNP
4g.55443867C>ACA356916327CLOCK,TMEM165c.1722G>T (p.Leu574Phe)
c.353-8372C>A
n.304G>T
c.409-8372C>A
c.899-8372C>A (n.899-8372C>A)
c.1545G>T (p.Leu515Phe)
 gnomAD v4
4g.55443867C=CA1459075277CLOCK,TMEM165c.1722G= (p.Leu574=)
c.353-8372C=
n.304G=
c.409-8372C=
c.899-8372C= (n.899-8372C=)
c.1545G= (p.Leu515=)
4g.55443867C>GCA356916328CLOCK,TMEM165c.1722G>C (p.Leu574Phe)
c.353-8372C>G
n.304G>C
c.409-8372C>G
c.899-8372C>G (n.899-8372C>G)
c.1545G>C (p.Leu515Phe)
4g.55443867C>TCA96904809CLOCK,TMEM165c.1722G>A (p.Leu574=)
c.353-8372C>T
n.304G>A
c.409-8372C>T
c.899-8372C>T (n.899-8372C>T)
c.1545G>A (p.Leu515=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.55443868A>CCA356916331CLOCK,TMEM165c.1721T>G (p.Leu574Trp)
c.353-8371A>C
n.303T>G
c.409-8371A>C
c.899-8371A>C (n.899-8371A>C)
c.1544T>G (p.Leu515Trp)
4g.55443868A>GCA356916335CLOCK,TMEM165c.1721T>C (p.Leu574Ser)
c.353-8371A>G
n.303T>C
c.409-8371A>G
c.899-8371A>G (n.899-8371A>G)
c.1544T>C (p.Leu515Ser)
4g.55443868A>TCA356916337CLOCK,TMEM165c.1721T>A (p.Leu574Ter)
c.353-8371A>T
n.303T>A
c.409-8371A>T
c.899-8371A>T (n.899-8371A>T)
c.1544T>A (p.Leu515Ter)
4g.55443869A>CCA356916341CLOCK,TMEM165c.1720T>G (p.Leu574Val)
c.353-8370A>C
n.302T>G
c.409-8370A>C
c.899-8370A>C (n.899-8370A>C)
c.1543T>G (p.Leu515Val)
4g.55443869A>GCA439485293CLOCK,TMEM165c.1720T>C (p.Leu574=)
c.353-8370A>G
n.302T>C
c.409-8370A>G
c.899-8370A>G (n.899-8370A>G)
c.1543T>C (p.Leu515=)
 gnomAD v4
4g.55443869A>TCA356916344CLOCK,TMEM165c.1720T>A (p.Leu574Met)
c.353-8370A>T
n.302T>A
c.409-8370A>T
c.899-8370A>T (n.899-8370A>T)
c.1543T>A (p.Leu515Met)
4g.55443869_55443871delinsACCCA1459075279CLOCK,TMEM165c.1718_1720delinsGGT (p.Gly573=)
c.353-8370_353-8368delinsACC
n.300_302delinsGGT
c.409-8370_409-8368delinsACC
c.899-8370_899-8368delinsACC (n.899-8370_899-8368delinsACC)
c.1541_1543delinsGGT (p.Gly514=)

Number of alleles fetched