Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.55443731G>A | CA356915025 | CLOCK,TMEM165 | c.1858C>T (p.Gln620Ter) n.25C>T c.353-8508G>A n.440C>T c.409-8508G>A c.899-8508G>A (n.899-8508G>A) c.1681C>T (p.Gln561Ter) | |
4 | g.55443731G>C | CA96904593 | CLOCK,TMEM165 | c.1858C>G (p.Gln620Glu) n.25C>G c.353-8508G>C n.440C>G c.409-8508G>C c.899-8508G>C (n.899-8508G>C) c.1681C>G (p.Gln561Glu) | dbSNP |
4 | g.55443731G= | CA1459075121 | CLOCK,TMEM165 | c.1858C= (p.Gln620=) n.25C= c.353-8508G= n.440C= c.409-8508G= c.899-8508G= (n.899-8508G=) c.1681C= (p.Gln561=) | |
4 | g.55443731G>T | CA356915029 | CLOCK,TMEM165 | c.1858C>A (p.Gln620Lys) n.25C>A c.353-8508G>T n.440C>A c.409-8508G>T c.899-8508G>T (n.899-8508G>T) c.1681C>A (p.Gln561Lys) | |
4 | g.55443732A= | CA1459075126 | CLOCK,TMEM165 | c.1857T= (p.Thr619=) n.24T= c.353-8507A= n.439T= c.409-8507A= c.899-8507A= (n.899-8507A=) c.1680T= (p.Thr560=) | |
4 | g.55443732A>C | CA439485123 | CLOCK,TMEM165 | c.1857T>G (p.Thr619=) n.24T>G c.353-8507A>C n.439T>G c.409-8507A>C c.899-8507A>C (n.899-8507A>C) c.1680T>G (p.Thr560=) | |
4 | g.55443732A>G | CA2925797 | CLOCK,TMEM165 | c.1857T>C (p.Thr619=) n.24T>C c.353-8507A>G n.439T>C c.409-8507A>G c.899-8507A>G (n.899-8507A>G) c.1680T>C (p.Thr560=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443732A>T | CA439485125 | CLOCK,TMEM165 | c.1857T>A (p.Thr619=) n.24T>A c.353-8507A>T n.439T>A c.409-8507A>T c.899-8507A>T (n.899-8507A>T) c.1680T>A (p.Thr560=) | |
4 | g.55443733G>A | CA356915046 | CLOCK,TMEM165 | c.1856C>T (p.Thr619Ile) n.23C>T c.353-8506G>A n.438C>T c.409-8506G>A c.899-8506G>A (n.899-8506G>A) c.1679C>T (p.Thr560Ile) | |
4 | g.55443733G>C | CA356915049 | CLOCK,TMEM165 | c.1856C>G (p.Thr619Ser) n.23C>G c.353-8506G>C n.438C>G c.409-8506G>C c.899-8506G>C (n.899-8506G>C) c.1679C>G (p.Thr560Ser) | |
4 | g.55443733G>T | CA356915057 | CLOCK,TMEM165 | c.1856C>A (p.Thr619Asn) n.23C>A c.353-8506G>T n.438C>A c.409-8506G>T c.899-8506G>T (n.899-8506G>T) c.1679C>A (p.Thr560Asn) | |
4 | g.55443734T>A | CA356915061 | CLOCK,TMEM165 | c.1855A>T (p.Thr619Ser) n.22A>T c.353-8505T>A n.437A>T c.409-8505T>A c.899-8505T>A (n.899-8505T>A) c.1678A>T (p.Thr560Ser) | |
4 | g.55443734T>C | CA356915063 | CLOCK,TMEM165 | c.1855A>G (p.Thr619Ala) n.22A>G c.353-8505T>C n.437A>G c.409-8505T>C c.899-8505T>C (n.899-8505T>C) c.1678A>G (p.Thr560Ala) | |
4 | g.55443734T>G | CA356915067 | CLOCK,TMEM165 | c.1855A>C (p.Thr619Pro) n.22A>C c.353-8505T>G n.437A>C c.409-8505T>G c.899-8505T>G (n.899-8505T>G) c.1678A>C (p.Thr560Pro) | |
4 | g.55443735T>A | CA439485127 | CLOCK,TMEM165 | c.1854A>T (p.Thr618=) n.21A>T c.353-8504T>A n.436A>T c.409-8504T>A c.899-8504T>A (n.899-8504T>A) c.1677A>T (p.Thr559=) | gnomAD v4 |
4 | g.55443735T>C | CA439485128 | CLOCK,TMEM165 | c.1854A>G (p.Thr618=) n.21A>G c.353-8504T>C n.436A>G c.409-8504T>C c.899-8504T>C (n.899-8504T>C) c.1677A>G (p.Thr559=) | |
4 | g.55443735T>G | CA439485129 | CLOCK,TMEM165 | c.1854A>C (p.Thr618=) n.21A>C c.353-8504T>G n.436A>C c.409-8504T>G c.899-8504T>G (n.899-8504T>G) c.1677A>C (p.Thr559=) | |
4 | g.55443736G>A | CA356915068 | CLOCK,TMEM165 | c.1853C>T (p.Thr618Ile) n.20C>T c.353-8503G>A n.435C>T c.409-8503G>A c.899-8503G>A (n.899-8503G>A) c.1676C>T (p.Thr559Ile) | |
4 | g.55443736G>C | CA356915069 | CLOCK,TMEM165 | c.1853C>G (p.Thr618Arg) n.20C>G c.353-8503G>C n.435C>G c.409-8503G>C c.899-8503G>C (n.899-8503G>C) c.1676C>G (p.Thr559Arg) | |
4 | g.55443736G= | CA1459075129 | CLOCK,TMEM165 | c.1853C= (p.Thr618=) n.20C= c.353-8503G= n.435C= c.409-8503G= c.899-8503G= (n.899-8503G=) c.1676C= (p.Thr559=) | |
4 | g.55443736G>T | CA2925798 | CLOCK,TMEM165 | c.1853C>A (p.Thr618Lys) n.20C>A c.353-8503G>T n.435C>A c.409-8503G>T c.899-8503G>T (n.899-8503G>T) c.1676C>A (p.Thr559Lys) | dbSNP ExAC gnomAD v2 |
4 | g.55443737T>A | CA356915079 | CLOCK,TMEM165 | c.1852A>T (p.Thr618Ser) n.19A>T c.353-8502T>A n.434A>T c.409-8502T>A c.899-8502T>A (n.899-8502T>A) c.1675A>T (p.Thr559Ser) | |
4 | g.55443737T>C | CA356915076 | CLOCK,TMEM165 | c.1852A>G (p.Thr618Ala) n.19A>G c.353-8502T>C n.434A>G c.409-8502T>C c.899-8502T>C (n.899-8502T>C) c.1675A>G (p.Thr559Ala) | |
4 | g.55443737T>G | CA356915074 | CLOCK,TMEM165 | c.1852A>C (p.Thr618Pro) n.19A>C c.353-8502T>G n.434A>C c.409-8502T>G c.899-8502T>G (n.899-8502T>G) c.1675A>C (p.Thr559Pro) | |
4 | g.55443738G>A | CA439485132 | CLOCK,TMEM165 | c.1851C>T (p.Gly617=) n.18C>T c.353-8501G>A n.433C>T c.409-8501G>A c.899-8501G>A (n.899-8501G>A) c.1674C>T (p.Gly558=) | |
4 | g.55443738G>C | CA439485133 | CLOCK,TMEM165 | c.1851C>G (p.Gly617=) n.18C>G c.353-8501G>C n.433C>G c.409-8501G>C c.899-8501G>C (n.899-8501G>C) c.1674C>G (p.Gly558=) | |
4 | g.55443738G>T | CA439485134 | CLOCK,TMEM165 | c.1851C>A (p.Gly617=) n.18C>A c.353-8501G>T n.433C>A c.409-8501G>T c.899-8501G>T (n.899-8501G>T) c.1674C>A (p.Gly558=) | |
4 | g.55443739C>A | CA356915083 | CLOCK,TMEM165 | c.1850G>T (p.Gly617Val) n.17G>T c.353-8500C>A n.432G>T c.409-8500C>A c.899-8500C>A (n.899-8500C>A) c.1673G>T (p.Gly558Val) | gnomAD v4 |
4 | g.55443739C>G | CA356915086 | CLOCK,TMEM165 | c.1850G>C (p.Gly617Ala) n.17G>C c.353-8500C>G n.432G>C c.409-8500C>G c.899-8500C>G (n.899-8500C>G) c.1673G>C (p.Gly558Ala) | |
4 | g.55443739C>T | CA356915085 | CLOCK,TMEM165 | c.1850G>A (p.Gly617Asp) n.17G>A c.353-8500C>T n.432G>A c.409-8500C>T c.899-8500C>T (n.899-8500C>T) c.1673G>A (p.Gly558Asp) | |
4 | g.55443740C>A | CA356915087 | CLOCK,TMEM165 | c.1849G>T (p.Gly617Cys) n.16G>T c.353-8499C>A n.431G>T c.409-8499C>A c.899-8499C>A (n.899-8499C>A) c.1672G>T (p.Gly558Cys) | |
4 | g.55443740C= | CA1459075132 | CLOCK,TMEM165 | c.1849G= (p.Gly617=) n.16G= c.353-8499C= n.431G= c.409-8499C= c.899-8499C= (n.899-8499C=) c.1672G= (p.Gly558=) | |
4 | g.55443740C>G | CA356915089 | CLOCK,TMEM165 | c.1849G>C (p.Gly617Arg) n.16G>C c.353-8499C>G n.431G>C c.409-8499C>G c.899-8499C>G (n.899-8499C>G) c.1672G>C (p.Gly558Arg) | |
4 | g.55443740C>T | CA356915092 | CLOCK,TMEM165 | c.1849G>A (p.Gly617Ser) n.16G>A c.353-8499C>T n.431G>A c.409-8499C>T c.899-8499C>T (n.899-8499C>T) c.1672G>A (p.Gly558Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55443741A>C | CA356915100 | CLOCK,TMEM165 | c.1848T>G (p.Ile616Met) n.15T>G c.353-8498A>C n.430T>G c.409-8498A>C c.899-8498A>C (n.899-8498A>C) c.1671T>G (p.Ile557Met) | |
4 | g.55443741A>G | CA439485137 | CLOCK,TMEM165 | c.1848T>C (p.Ile616=) n.15T>C c.353-8498A>G n.430T>C c.409-8498A>G c.899-8498A>G (n.899-8498A>G) c.1671T>C (p.Ile557=) | |
4 | g.55443741A>T | CA439485136 | CLOCK,TMEM165 | c.1848T>A (p.Ile616=) n.15T>A c.353-8498A>T n.430T>A c.409-8498A>T c.899-8498A>T (n.899-8498A>T) c.1671T>A (p.Ile557=) | |
4 | g.55443742A= | CA1459075134 | CLOCK,TMEM165 | c.1847T= (p.Ile616=) n.14T= c.353-8497A= n.429T= c.409-8497A= c.899-8497A= (n.899-8497A=) c.1670T= (p.Ile557=) | |
4 | g.55443742A>C | CA356915108 | CLOCK,TMEM165 | c.1847T>G (p.Ile616Ser) n.14T>G c.353-8497A>C n.429T>G c.409-8497A>C c.899-8497A>C (n.899-8497A>C) c.1670T>G (p.Ile557Ser) | |
4 | g.55443742A>G | CA2925799 | CLOCK,TMEM165 | c.1847T>C (p.Ile616Thr) n.14T>C c.353-8497A>G n.429T>C c.409-8497A>G c.899-8497A>G (n.899-8497A>G) c.1670T>C (p.Ile557Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443742A>T | CA356915113 | CLOCK,TMEM165 | c.1847T>A (p.Ile616Asn) n.14T>A c.353-8497A>T n.429T>A c.409-8497A>T c.899-8497A>T (n.899-8497A>T) c.1670T>A (p.Ile557Asn) | |
4 | g.55443743T>A | CA356915120 | CLOCK,TMEM165 | c.1846A>T (p.Ile616Phe) n.13A>T c.353-8496T>A n.428A>T c.409-8496T>A c.899-8496T>A (n.899-8496T>A) c.1669A>T (p.Ile557Phe) | gnomAD v4 |
4 | g.55443743T>C | CA356915123 | CLOCK,TMEM165 | c.1846A>G (p.Ile616Val) n.13A>G c.353-8496T>C n.428A>G c.409-8496T>C c.899-8496T>C (n.899-8496T>C) c.1669A>G (p.Ile557Val) | gnomAD v4 |
4 | g.55443743T>G | CA356915125 | CLOCK,TMEM165 | c.1846A>C (p.Ile616Leu) n.13A>C c.353-8496T>G n.428A>C c.409-8496T>G c.899-8496T>G (n.899-8496T>G) c.1669A>C (p.Ile557Leu) | |
4 | g.55443744G>A | CA439485143 | CLOCK,TMEM165 | c.1845C>T (p.His615=) n.12C>T c.353-8495G>A n.427C>T c.409-8495G>A c.899-8495G>A (n.899-8495G>A) c.1668C>T (p.His556=) | dbSNP gnomAD v2 |
4 | g.55443744G>C | CA356915128 | CLOCK,TMEM165 | c.1845C>G (p.His615Gln) n.12C>G c.353-8495G>C n.427C>G c.409-8495G>C c.899-8495G>C (n.899-8495G>C) c.1668C>G (p.His556Gln) | gnomAD v4 |
4 | g.55443744G= | CA1459075138 | CLOCK,TMEM165 | c.1845C= (p.His615=) n.12C= c.353-8495G= n.427C= c.409-8495G= c.899-8495G= (n.899-8495G=) c.1668C= (p.His556=) | |
4 | g.55443744G>T | CA356915129 | CLOCK,TMEM165 | c.1845C>A (p.His615Gln) n.12C>A c.353-8495G>T n.427C>A c.409-8495G>T c.899-8495G>T (n.899-8495G>T) c.1668C>A (p.His556Gln) | |
4 | g.55443745T>A | CA356915133 | CLOCK,TMEM165 | c.1844A>T (p.His615Leu) n.11A>T c.353-8494T>A n.426A>T c.409-8494T>A c.899-8494T>A (n.899-8494T>A) c.1667A>T (p.His556Leu) | |
4 | g.55443745T>C | CA356915140 | CLOCK,TMEM165 | c.1844A>G (p.His615Arg) n.11A>G c.353-8494T>C n.426A>G c.409-8494T>C c.899-8494T>C (n.899-8494T>C) c.1667A>G (p.His556Arg) | dbSNP gnomAD v4 |
4 | g.55443745T>G | CA356915139 | CLOCK,TMEM165 | c.1844A>C (p.His615Pro) n.11A>C c.353-8494T>G n.426A>C c.409-8494T>G c.899-8494T>G (n.899-8494T>G) c.1667A>C (p.His556Pro) | |
4 | g.55443745T= | CA1459075139 | CLOCK,TMEM165 | c.1844A= (p.His615=) n.11A= c.353-8494T= n.426A= c.409-8494T= c.899-8494T= (n.899-8494T=) c.1667A= (p.His556=) | |
4 | g.55443746G>A | CA356915141 | CLOCK,TMEM165 | c.1843C>T (p.His615Tyr) n.10C>T c.353-8493G>A n.425C>T c.409-8493G>A c.899-8493G>A (n.899-8493G>A) c.1666C>T (p.His556Tyr) | |
4 | g.55443746G>C | CA356915142 | CLOCK,TMEM165 | c.1843C>G (p.His615Asp) n.10C>G c.353-8493G>C n.425C>G c.409-8493G>C c.899-8493G>C (n.899-8493G>C) c.1666C>G (p.His556Asp) | |
4 | g.55443746G>T | CA356915144 | CLOCK,TMEM165 | c.1843C>A (p.His615Asn) n.10C>A c.353-8493G>T n.425C>A c.409-8493G>T c.899-8493G>T (n.899-8493G>T) c.1666C>A (p.His556Asn) | |
4 | g.55443747T>A | CA439485147 | CLOCK,TMEM165 | c.1842A>T (p.Gly614=) n.9A>T c.353-8492T>A n.424A>T c.409-8492T>A c.899-8492T>A (n.899-8492T>A) c.1665A>T (p.Gly555=) | gnomAD v4 |
4 | g.55443747T>C | CA439485150 | CLOCK,TMEM165 | c.1842A>G (p.Gly614=) n.9A>G c.353-8492T>C n.424A>G c.409-8492T>C c.899-8492T>C (n.899-8492T>C) c.1665A>G (p.Gly555=) | |
4 | g.55443747T>G | CA439485148 | CLOCK,TMEM165 | c.1842A>C (p.Gly614=) n.9A>C c.353-8492T>G n.424A>C c.409-8492T>G c.899-8492T>G (n.899-8492T>G) c.1665A>C (p.Gly555=) | |
4 | g.55443748C>A | CA356915148 | CLOCK,TMEM165 | c.1841G>T (p.Gly614Val) n.8G>T c.353-8491C>A n.423G>T c.409-8491C>A c.899-8491C>A (n.899-8491C>A) c.1664G>T (p.Gly555Val) | |
4 | g.55443748C>G | CA356915151 | CLOCK,TMEM165 | c.1841G>C (p.Gly614Ala) n.8G>C c.353-8491C>G n.423G>C c.409-8491C>G c.899-8491C>G (n.899-8491C>G) c.1664G>C (p.Gly555Ala) | |
4 | g.55443748C>T | CA356915159 | CLOCK,TMEM165 | c.1841G>A (p.Gly614Glu) n.8G>A c.353-8491C>T n.423G>A c.409-8491C>T c.899-8491C>T (n.899-8491C>T) c.1664G>A (p.Gly555Glu) | |
4 | g.55443749C>A | CA356915160 | CLOCK,TMEM165 | c.1840G>T (p.Gly614Ter) n.7G>T c.353-8490C>A n.422G>T c.409-8490C>A c.899-8490C>A (n.899-8490C>A) c.1663G>T (p.Gly555Ter) | |
4 | g.55443749C= | CA1459075141 | CLOCK,TMEM165 | c.1840G= (p.Gly614=) n.7G= c.353-8490C= n.422G= c.409-8490C= c.899-8490C= (n.899-8490C=) c.1663G= (p.Gly555=) | |
4 | g.55443749C>G | CA356915161 | CLOCK,TMEM165 | c.1840G>C (p.Gly614Arg) n.7G>C c.353-8490C>G n.422G>C c.409-8490C>G c.899-8490C>G (n.899-8490C>G) c.1663G>C (p.Gly555Arg) | |
4 | g.55443749C>T | CA356915162 | CLOCK,TMEM165 | c.1840G>A (p.Gly614Arg) n.7G>A c.353-8490C>T n.422G>A c.409-8490C>T c.899-8490C>T (n.899-8490C>T) c.1663G>A (p.Gly555Arg) | dbSNP gnomAD v4 |
4 | g.55443750A>C | CA439485151 | CLOCK,TMEM165 | c.1839T>G (p.Thr613=) n.6T>G c.353-8489A>C n.421T>G c.409-8489A>C c.899-8489A>C (n.899-8489A>C) c.1662T>G (p.Thr554=) | |
4 | g.55443750A>G | CA439485152 | CLOCK,TMEM165 | c.1839T>C (p.Thr613=) n.6T>C c.353-8489A>G n.421T>C c.409-8489A>G c.899-8489A>G (n.899-8489A>G) c.1662T>C (p.Thr554=) | gnomAD v4 |
4 | g.55443750A>T | CA439485153 | CLOCK,TMEM165 | c.1839T>A (p.Thr613=) n.6T>A c.353-8489A>T n.421T>A c.409-8489A>T c.899-8489A>T (n.899-8489A>T) c.1662T>A (p.Thr554=) | |
4 | g.55443751G>A | CA356915168 | CLOCK,TMEM165 | c.1838C>T (p.Thr613Ile) n.5C>T c.353-8488G>A n.420C>T c.409-8488G>A c.899-8488G>A (n.899-8488G>A) c.1661C>T (p.Thr554Ile) | |
4 | g.55443751G>C | CA356915172 | CLOCK,TMEM165 | c.1838C>G (p.Thr613Ser) n.5C>G c.353-8488G>C n.420C>G c.409-8488G>C c.899-8488G>C (n.899-8488G>C) c.1661C>G (p.Thr554Ser) | |
4 | g.55443751G>T | CA356915165 | CLOCK,TMEM165 | c.1838C>A (p.Thr613Asn) n.5C>A c.353-8488G>T n.420C>A c.409-8488G>T c.899-8488G>T (n.899-8488G>T) c.1661C>A (p.Thr554Asn) | |
4 | g.55443752T>A | CA356915177 | CLOCK,TMEM165 | c.1837A>T (p.Thr613Ser) n.4A>T c.353-8487T>A n.419A>T c.409-8487T>A c.899-8487T>A (n.899-8487T>A) c.1660A>T (p.Thr554Ser) | |
4 | g.55443752T>C | CA356915182 | CLOCK,TMEM165 | c.1837A>G (p.Thr613Ala) n.4A>G c.353-8487T>C n.419A>G c.409-8487T>C c.899-8487T>C (n.899-8487T>C) c.1660A>G (p.Thr554Ala) | |
4 | g.55443752T>G | CA356915185 | CLOCK,TMEM165 | c.1837A>C (p.Thr613Pro) n.4A>C c.353-8487T>G n.419A>C c.409-8487T>G c.899-8487T>G (n.899-8487T>G) c.1660A>C (p.Thr554Pro) | |
4 | g.55443753A>C | CA356915192 | CLOCK,TMEM165 | c.1836T>G (p.Asn612Lys) n.3T>G c.353-8486A>C n.418T>G c.409-8486A>C c.899-8486A>C (n.899-8486A>C) c.1659T>G (p.Asn553Lys) | |
4 | g.55443753A>G | CA439485158 | CLOCK,TMEM165 | c.1836T>C (p.Asn612=) n.3T>C c.353-8486A>G n.418T>C c.409-8486A>G c.899-8486A>G (n.899-8486A>G) c.1659T>C (p.Asn553=) | gnomAD v4 |
4 | g.55443753A>T | CA356915194 | CLOCK,TMEM165 | c.1836T>A (p.Asn612Lys) n.3T>A c.353-8486A>T n.418T>A c.409-8486A>T c.899-8486A>T (n.899-8486A>T) c.1659T>A (p.Asn553Lys) | |
4 | g.55443754T>A | CA356915204 | CLOCK,TMEM165 | c.1835A>T (p.Asn612Ile) n.2A>T c.353-8485T>A n.417A>T c.409-8485T>A c.899-8485T>A (n.899-8485T>A) c.1658A>T (p.Asn553Ile) | |
4 | g.55443754T>C | CA356915202 | CLOCK,TMEM165 | c.1835A>G (p.Asn612Ser) n.2A>G c.353-8485T>C n.417A>G c.409-8485T>C c.899-8485T>C (n.899-8485T>C) c.1658A>G (p.Asn553Ser) | |
4 | g.55443754T>G | CA356915199 | CLOCK,TMEM165 | c.1835A>C (p.Asn612Thr) n.2A>C c.353-8485T>G n.417A>C c.409-8485T>G c.899-8485T>G (n.899-8485T>G) c.1658A>C (p.Asn553Thr) | |
4 | g.55443755T>A | CA356915206 | CLOCK,TMEM165 | c.1834A>T (p.Asn612Tyr) n.1A>T c.353-8484T>A n.416A>T c.409-8484T>A c.899-8484T>A (n.899-8484T>A) c.1657A>T (p.Asn553Tyr) | |
4 | g.55443755T>C | CA356915208 | CLOCK,TMEM165 | c.1834A>G (p.Asn612Asp) n.1A>G c.353-8484T>C n.416A>G c.409-8484T>C c.899-8484T>C (n.899-8484T>C) c.1657A>G (p.Asn553Asp) | |
4 | g.55443755T>G | CA356915211 | CLOCK,TMEM165 | c.1834A>C (p.Asn612His) n.1A>C c.353-8484T>G n.416A>C c.409-8484T>G c.899-8484T>G (n.899-8484T>G) c.1657A>C (p.Asn553His) | |
4 | g.55443756C>A | CA356915218 | CLOCK,TMEM165 | c.1833G>T (p.Met611Ile) c.353-8483C>A n.415G>T c.409-8483C>A c.899-8483C>A (n.899-8483C>A) c.1656G>T (p.Met552Ile) | |
4 | g.55443756C= | CA1459075145 | CLOCK,TMEM165 | c.1833G= (p.Met611=) c.353-8483C= n.415G= c.409-8483C= c.899-8483C= (n.899-8483C=) c.1656G= (p.Met552=) | |
4 | g.55443756C>G | CA356915221 | CLOCK,TMEM165 | c.1833G>C (p.Met611Ile) c.353-8483C>G n.415G>C c.409-8483C>G c.899-8483C>G (n.899-8483C>G) c.1656G>C (p.Met552Ile) | |
4 | g.55443756C>T | CA356915224 | CLOCK,TMEM165 | c.1833G>A (p.Met611Ile) c.353-8483C>T n.415G>A c.409-8483C>T c.899-8483C>T (n.899-8483C>T) c.1656G>A (p.Met552Ile) | COSMIC |
4 | g.55443757A>C | CA356915251 | CLOCK,TMEM165 | c.1832T>G (p.Met611Arg) c.353-8482A>C n.414T>G c.409-8482A>C c.899-8482A>C (n.899-8482A>C) c.1655T>G (p.Met552Arg) | |
4 | g.55443757A>G | CA356915241 | CLOCK,TMEM165 | c.1832T>C (p.Met611Thr) c.353-8482A>G n.414T>C c.409-8482A>G c.899-8482A>G (n.899-8482A>G) c.1655T>C (p.Met552Thr) | |
4 | g.55443757A>T | CA356915238 | CLOCK,TMEM165 | c.1832T>A (p.Met611Lys) c.353-8482A>T n.414T>A c.409-8482A>T c.899-8482A>T (n.899-8482A>T) c.1655T>A (p.Met552Lys) | |
4 | g.55443757_55443765dup | CA2925800 | CLOCK,TMEM165 | c.1824_1832dup (p.Gly610_Met611insIleSerGly) c.353-8482_353-8474dup n.406_414dup c.409-8482_409-8474dup c.899-8482_899-8474dup (n.899-8482_899-8474dup) c.1647_1655dup (p.Gly551_Met552insIleSerGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443758T>A | CA356915255 | CLOCK,TMEM165 | c.1831A>T (p.Met611Leu) c.353-8481T>A n.413A>T c.409-8481T>A c.899-8481T>A (n.899-8481T>A) c.1654A>T (p.Met552Leu) | |
4 | g.55443758T>C | CA2925801 | CLOCK,TMEM165 | c.1831A>G (p.Met611Val) c.353-8481T>C n.413A>G c.409-8481T>C c.899-8481T>C (n.899-8481T>C) c.1654A>G (p.Met552Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443758T>G | CA356915270 | CLOCK,TMEM165 | c.1831A>C (p.Met611Leu) c.353-8481T>G n.413A>C c.409-8481T>G c.899-8481T>G (n.899-8481T>G) c.1654A>C (p.Met552Leu) | gnomAD v4 |
4 | g.55443758T= | CA1459075150 | CLOCK,TMEM165 | c.1831A= (p.Met611=) c.353-8481T= n.413A= c.409-8481T= c.899-8481T= (n.899-8481T=) c.1654A= (p.Met552=) | |
4 | g.55443759T>A | CA439485164 | CLOCK,TMEM165 | c.1830A>T (p.Gly610=) c.353-8480T>A n.412A>T c.409-8480T>A c.899-8480T>A (n.899-8480T>A) c.1653A>T (p.Gly551=) | |
4 | g.55443759T>C | CA439485165 | CLOCK,TMEM165 | c.1830A>G (p.Gly610=) c.353-8480T>C n.412A>G c.409-8480T>C c.899-8480T>C (n.899-8480T>C) c.1653A>G (p.Gly551=) | |
4 | g.55443759T>G | CA439485166 | CLOCK,TMEM165 | c.1830A>C (p.Gly610=) c.353-8480T>G n.412A>C c.409-8480T>G c.899-8480T>G (n.899-8480T>G) c.1653A>C (p.Gly551=) | |
4 | g.55443760C>A | CA356915274 | CLOCK,TMEM165 | c.1829G>T (p.Gly610Val) c.353-8479C>A n.411G>T c.409-8479C>A c.899-8479C>A (n.899-8479C>A) c.1652G>T (p.Gly551Val) | |
4 | g.55443760C= | CA1459075153 | CLOCK,TMEM165 | c.1829G= (p.Gly610=) c.353-8479C= n.411G= c.409-8479C= c.899-8479C= (n.899-8479C=) c.1652G= (p.Gly551=) | |
4 | g.55443760C>G | CA356915279 | CLOCK,TMEM165 | c.1829G>C (p.Gly610Ala) c.353-8479C>G n.411G>C c.409-8479C>G c.899-8479C>G (n.899-8479C>G) c.1652G>C (p.Gly551Ala) | |
4 | g.55443760C>T | CA2925802 | CLOCK,TMEM165 | c.1829G>A (p.Gly610Glu) c.353-8479C>T n.411G>A c.409-8479C>T c.899-8479C>T (n.899-8479C>T) c.1652G>A (p.Gly551Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443761C>A | CA356915287 | CLOCK,TMEM165 | c.1828G>T (p.Gly610Ter) c.353-8478C>A n.410G>T c.409-8478C>A c.899-8478C>A (n.899-8478C>A) c.1651G>T (p.Gly551Ter) | |
4 | g.55443761C= | CA1459075156 | CLOCK,TMEM165 | c.1828G= (p.Gly610=) c.353-8478C= n.410G= c.409-8478C= c.899-8478C= (n.899-8478C=) c.1651G= (p.Gly551=) | |
4 | g.55443761C>G | CA356915288 | CLOCK,TMEM165 | c.1828G>C (p.Gly610Arg) c.353-8478C>G n.410G>C c.409-8478C>G c.899-8478C>G (n.899-8478C>G) c.1651G>C (p.Gly551Arg) | |
4 | g.55443761C>T | CA2925803 | CLOCK,TMEM165 | c.1828G>A (p.Gly610Arg) c.353-8478C>T n.410G>A c.409-8478C>T c.899-8478C>T (n.899-8478C>T) c.1651G>A (p.Gly551Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443762A= | CA1459075161 | CLOCK,TMEM165 | c.1827T= (p.Ser609=) c.353-8477A= n.409T= c.409-8477A= c.899-8477A= (n.899-8477A=) c.1650T= (p.Ser550=) | |
4 | g.55443762A>C | CA356915295 | CLOCK,TMEM165 | c.1827T>G (p.Ser609Arg) c.353-8477A>C n.409T>G c.409-8477A>C c.899-8477A>C (n.899-8477A>C) c.1650T>G (p.Ser550Arg) | |
4 | g.55443762A>G | CA439485173 | CLOCK,TMEM165 | c.1827T>C (p.Ser609=) c.353-8477A>G n.409T>C c.409-8477A>G c.899-8477A>G (n.899-8477A>G) c.1650T>C (p.Ser550=) | |
4 | g.55443762A>T | CA356915299 | CLOCK,TMEM165 | c.1827T>A (p.Ser609Arg) c.353-8477A>T n.409T>A c.409-8477A>T c.899-8477A>T (n.899-8477A>T) c.1650T>A (p.Ser550Arg) | dbSNP gnomAD v2 |
4 | g.55443763C>A | CA356915319 | CLOCK,TMEM165 | c.1826G>T (p.Ser609Ile) c.353-8476C>A n.408G>T c.409-8476C>A c.899-8476C>A (n.899-8476C>A) c.1649G>T (p.Ser550Ile) | |
4 | g.55443763C>G | CA356915323 | CLOCK,TMEM165 | c.1826G>C (p.Ser609Thr) c.353-8476C>G n.408G>C c.409-8476C>G c.899-8476C>G (n.899-8476C>G) c.1649G>C (p.Ser550Thr) | gnomAD v4 |
4 | g.55443763C>T | CA356915316 | CLOCK,TMEM165 | c.1826G>A (p.Ser609Asn) c.353-8476C>T n.408G>A c.409-8476C>T c.899-8476C>T (n.899-8476C>T) c.1649G>A (p.Ser550Asn) | |
4 | g.55443764T>A | CA356915328 | CLOCK,TMEM165 | c.1825A>T (p.Ser609Cys) c.353-8475T>A n.407A>T c.409-8475T>A c.899-8475T>A (n.899-8475T>A) c.1648A>T (p.Ser550Cys) | |
4 | g.55443764T>C | CA356915326 | CLOCK,TMEM165 | c.1825A>G (p.Ser609Gly) c.353-8475T>C n.407A>G c.409-8475T>C c.899-8475T>C (n.899-8475T>C) c.1648A>G (p.Ser550Gly) | |
4 | g.55443764T>G | CA356915335 | CLOCK,TMEM165 | c.1825A>C (p.Ser609Arg) c.353-8475T>G n.407A>C c.409-8475T>G c.899-8475T>G (n.899-8475T>G) c.1648A>C (p.Ser550Arg) | |
4 | g.55443765T>A | CA356915338 | CLOCK,TMEM165 | c.1824A>T (p.Gln608His) c.353-8474T>A n.406A>T c.409-8474T>A c.899-8474T>A (n.899-8474T>A) c.1647A>T (p.Gln549His) | |
4 | g.55443765T>C | CA439485176 | CLOCK,TMEM165 | c.1824A>G (p.Gln608=) c.353-8474T>C n.406A>G c.409-8474T>C c.899-8474T>C (n.899-8474T>C) c.1647A>G (p.Gln549=) | |
4 | g.55443765T>G | CA356915340 | CLOCK,TMEM165 | c.1824A>C (p.Gln608His) c.353-8474T>G n.406A>C c.409-8474T>G c.899-8474T>G (n.899-8474T>G) c.1647A>C (p.Gln549His) | |
4 | g.55443766T>A | CA356915349 | CLOCK,TMEM165 | c.1823A>T (p.Gln608Leu) c.353-8473T>A n.405A>T c.409-8473T>A c.899-8473T>A (n.899-8473T>A) c.1646A>T (p.Gln549Leu) | |
4 | g.55443766T>C | CA356915352 | CLOCK,TMEM165 | c.1823A>G (p.Gln608Arg) c.353-8473T>C n.405A>G c.409-8473T>C c.899-8473T>C (n.899-8473T>C) c.1646A>G (p.Gln549Arg) | |
4 | g.55443766T>G | CA356915354 | CLOCK,TMEM165 | c.1823A>C (p.Gln608Pro) c.353-8473T>G n.405A>C c.409-8473T>G c.899-8473T>G (n.899-8473T>G) c.1646A>C (p.Gln549Pro) | |
4 | g.55443767G>A | CA356915361 | CLOCK,TMEM165 | c.1822C>T (p.Gln608Ter) c.353-8472G>A n.404C>T c.409-8472G>A c.899-8472G>A (n.899-8472G>A) c.1645C>T (p.Gln549Ter) | |
4 | g.55443767G>C | CA356915369 | CLOCK,TMEM165 | c.1822C>G (p.Gln608Glu) c.353-8472G>C n.404C>G c.409-8472G>C c.899-8472G>C (n.899-8472G>C) c.1645C>G (p.Gln549Glu) | dbSNP gnomAD v4 |
4 | g.55443767G= | CA1459075163 | CLOCK,TMEM165 | c.1822C= (p.Gln608=) c.353-8472G= n.404C= c.409-8472G= c.899-8472G= (n.899-8472G=) c.1645C= (p.Gln549=) | |
4 | g.55443767G>T | CA356915372 | CLOCK,TMEM165 | c.1822C>A (p.Gln608Lys) c.353-8472G>T n.404C>A c.409-8472G>T c.899-8472G>T (n.899-8472G>T) c.1645C>A (p.Gln549Lys) | |
4 | g.55443768A>C | CA356915375 | CLOCK,TMEM165 | c.1821T>G (p.Ile607Met) c.353-8471A>C n.403T>G c.409-8471A>C c.899-8471A>C (n.899-8471A>C) c.1644T>G (p.Ile548Met) | |
4 | g.55443768A>G | CA439485181 | CLOCK,TMEM165 | c.1821T>C (p.Ile607=) c.353-8471A>G n.403T>C c.409-8471A>G c.899-8471A>G (n.899-8471A>G) c.1644T>C (p.Ile548=) | |
4 | g.55443768A>T | CA439485180 | CLOCK,TMEM165 | c.1821T>A (p.Ile607=) c.353-8471A>T n.403T>A c.409-8471A>T c.899-8471A>T (n.899-8471A>T) c.1644T>A (p.Ile548=) | |
4 | g.55443769A= | CA1459075166 | CLOCK,TMEM165 | c.1820T= (p.Ile607=) c.353-8470A= n.402T= c.409-8470A= c.899-8470A= (n.899-8470A=) c.1643T= (p.Ile548=) | |
4 | g.55443769A>C | CA96904699 | CLOCK,TMEM165 | c.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 |
4 | g.55443769A>G | CA356915384 | CLOCK,TMEM165 | c.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) | |
4 | g.55443769A>T | CA356915387 | CLOCK,TMEM165 | c.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) | |
4 | g.55443770T>A | CA2925804 | CLOCK,TMEM165 | c.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 |
4 | g.55443770T>C | CA2925805 | CLOCK,TMEM165 | c.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 |
4 | g.55443770T>G | CA356915399 | CLOCK,TMEM165 | c.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) | |
4 | g.55443770T= | CA1459075168 | CLOCK,TMEM165 | c.1819A= (p.Ile607=) c.353-8469T= n.401A= c.409-8469T= c.899-8469T= (n.899-8469T=) c.1642A= (p.Ile548=) | |
4 | g.55443771C>A | CA356915405 | CLOCK,TMEM165 | c.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) | |
4 | g.55443771C= | CA1459075172 | CLOCK,TMEM165 | c.1818G= (p.Gln606=) c.353-8468C= n.400G= c.409-8468C= c.899-8468C= (n.899-8468C=) c.1641G= (p.Gln547=) | |
4 | g.55443771C>G | CA2925806 | CLOCK,TMEM165 | c.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 |
4 | g.55443771C>T | CA439485186 | CLOCK,TMEM165 | c.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 |
4 | g.55443772T>A | CA356915411 | CLOCK,TMEM165 | c.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) | |
4 | g.55443772T>C | CA356915412 | CLOCK,TMEM165 | c.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 |
4 | g.55443772T>G | CA356915414 | CLOCK,TMEM165 | c.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) | |
4 | g.55443773G>A | CA356915419 | CLOCK,TMEM165 | c.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) | |
4 | g.55443773G>C | CA356915422 | CLOCK,TMEM165 | c.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) | |
4 | g.55443773G>T | CA356915426 | CLOCK,TMEM165 | c.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) | |
4 | g.55443774G>A | CA439485188 | CLOCK,TMEM165 | c.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 |
4 | g.55443774G>C | CA356915439 | CLOCK,TMEM165 | c.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) | |
4 | g.55443774G>T | CA356915445 | CLOCK,TMEM165 | c.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) | |
4 | g.55443775T>A | CA2925808 | CLOCK,TMEM165 | c.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 |
4 | g.55443775T>C | CA2925807 | CLOCK,TMEM165 | c.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 |
4 | g.55443775T>G | CA356915453 | CLOCK,TMEM165 | c.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) | |
4 | g.55443775T= | CA1459075174 | CLOCK,TMEM165 | c.1814A= (p.Asn605=) c.353-8464T= n.396A= c.409-8464T= c.899-8464T= (n.899-8464T=) c.1637A= (p.Asn546=) | |
4 | g.55443776T>A | CA356915460 | CLOCK,TMEM165 | c.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 |
4 | g.55443776T>C | CA356915462 | CLOCK,TMEM165 | c.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 |
4 | g.55443776T>G | CA356915455 | CLOCK,TMEM165 | c.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) | |
4 | g.55443777A>C | CA439485191 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443777A>G | CA439485192 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443777A>T | CA439485193 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443778G>A | CA356915465 | CLOCK,TMEM165 | c.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) | |
4 | g.55443778G>C | CA356915467 | CLOCK,TMEM165 | c.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) | |
4 | g.55443778G>T | CA356915471 | CLOCK,TMEM165 | c.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) | |
4 | g.55443779T>A | CA356915475 | CLOCK,TMEM165 | c.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) | |
4 | g.55443779T>C | CA96904707 | CLOCK,TMEM165 | c.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 |
4 | g.55443779T>G | CA356915483 | CLOCK,TMEM165 | c.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) | |
4 | g.55443779T= | CA1459075177 | CLOCK,TMEM165 | c.1810A= (p.Thr604=) c.353-8460T= n.392A= c.409-8460T= c.899-8460T= (n.899-8460T=) c.1633A= (p.Thr545=) | |
4 | g.55443780A>C | CA439485196 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443780A>G | CA439485198 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443780A>T | CA439485197 | CLOCK,TMEM165 | c.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 |
4 | g.55443781G>A | CA2925809 | CLOCK,TMEM165 | c.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 |
4 | g.55443781G>C | CA356915489 | CLOCK,TMEM165 | c.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 |
4 | g.55443781G= | CA1459075180 | CLOCK,TMEM165 | c.1808C= (p.Pro603=) c.353-8458G= n.390C= c.409-8458G= c.899-8458G= (n.899-8458G=) c.1631C= (p.Pro544=) | |
4 | g.55443781G>T | CA356915493 | CLOCK,TMEM165 | c.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) | |
4 | g.55443782G>A | CA96904726 | CLOCK,TMEM165 | c.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 |
4 | g.55443782G>C | CA356915500 | CLOCK,TMEM165 | c.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) | |
4 | g.55443782G= | CA1459075186 | CLOCK,TMEM165 | c.1807C= (p.Pro603=) c.353-8457G= n.389C= c.409-8457G= c.899-8457G= (n.899-8457G=) c.1630C= (p.Pro544=) | |
4 | g.55443782G>T | CA356915504 | CLOCK,TMEM165 | c.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) | |
4 | g.55443783A= | CA1459075189 | CLOCK,TMEM165 | c.1806T= (p.Val602=) c.353-8456A= n.388T= c.409-8456A= c.899-8456A= (n.899-8456A=) c.1629T= (p.Val543=) | |
4 | g.55443783A>C | CA439485199 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443783A>G | CA2925810 | CLOCK,TMEM165 | c.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 |
4 | g.55443783A>T | CA439485201 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443784A= | CA1459075192 | CLOCK,TMEM165 | c.1805T= (p.Val602=) c.353-8455A= n.387T= c.409-8455A= c.899-8455A= (n.899-8455A=) c.1628T= (p.Val543=) | |
4 | g.55443784A>C | CA356915516 | CLOCK,TMEM165 | c.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) | |
4 | g.55443784A>G | CA2925811 | CLOCK,TMEM165 | c.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 |
4 | g.55443784A>T | CA356915511 | CLOCK,TMEM165 | c.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) | |
4 | g.55443785C>A | CA356915521 | CLOCK,TMEM165 | c.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) | |
4 | g.55443785C>G | CA356915524 | CLOCK,TMEM165 | c.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) | |
4 | g.55443785C>T | CA356915528 | CLOCK,TMEM165 | c.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 |
4 | g.55443786A>C | CA439485203 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443786A>G | CA439485204 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443786A>T | CA439485205 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443787A= | CA1459075196 | CLOCK,TMEM165 | c.1802T= (p.Val601=) c.353-8452A= n.384T= c.409-8452A= c.899-8452A= (n.899-8452A=) c.1625T= (p.Val542=) | |
4 | g.55443787A>C | CA356915531 | CLOCK,TMEM165 | c.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) | |
4 | g.55443787A>G | CA356915534 | CLOCK,TMEM165 | c.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 |
4 | g.55443787A>T | CA356915535 | CLOCK,TMEM165 | c.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) | |
4 | g.55443788C>A | CA356915537 | CLOCK,TMEM165 | c.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) | |
4 | g.55443788C= | CA1459075198 | CLOCK,TMEM165 | c.1801G= (p.Val601=) c.353-8451C= n.383G= c.409-8451C= c.899-8451C= (n.899-8451C=) c.1624G= (p.Val542=) | |
4 | g.55443788C>G | CA356915539 | CLOCK,TMEM165 | c.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) | |
4 | g.55443788C>T | CA2925812 | CLOCK,TMEM165 | c.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 |
4 | g.55443789T>A | CA356915544 | CLOCK,TMEM165 | c.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) | |
4 | g.55443789T>C | CA2925813 | CLOCK,TMEM165 | c.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 |
4 | g.55443789T>G | CA356915548 | CLOCK,TMEM165 | c.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) | |
4 | g.55443789T= | CA1459075200 | CLOCK,TMEM165 | c.1800A= (p.Gln600=) c.353-8450T= n.382A= c.409-8450T= c.899-8450T= (n.899-8450T=) c.1623A= (p.Gln541=) | |
4 | g.55443790T>A | CA356915560 | CLOCK,TMEM165 | c.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) | |
4 | g.55443790T>C | CA356915557 | CLOCK,TMEM165 | c.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 |
4 | g.55443790T>G | CA356915551 | CLOCK,TMEM165 | c.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) | |
4 | g.55443791G>A | CA356915562 | CLOCK,TMEM165 | c.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) | |
4 | g.55443791G>C | CA356915573 | CLOCK,TMEM165 | c.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 |
4 | g.55443791G>T | CA356915571 | CLOCK,TMEM165 | c.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) | |
4 | g.55443792G>A | CA439485208 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443792G>C | CA439485209 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443792G>T | CA439485210 | CLOCK,TMEM165 | c.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 |
4 | g.55443793C>A | CA356915577 | CLOCK,TMEM165 | c.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) | |
4 | g.55443793C= | CA1459075204 | CLOCK,TMEM165 | c.1796G= (p.Gly599=) c.353-8446C= n.378G= c.409-8446C= c.899-8446C= (n.899-8446C=) c.1619G= (p.Gly540=) | |
4 | g.55443793C>G | CA96904756 | CLOCK,TMEM165 | c.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 |
4 | g.55443793C>T | CA356915580 | CLOCK,TMEM165 | c.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) | |
4 | g.55443794C>A | CA356915584 | CLOCK,TMEM165 | c.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) | |
4 | g.55443794C>G | CA356915586 | CLOCK,TMEM165 | c.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) | |
4 | g.55443794C>T | CA356915590 | CLOCK,TMEM165 | c.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) | |
4 | g.55443795T>A | CA356915593 | CLOCK,TMEM165 | c.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) | |
4 | g.55443795T>C | CA439485213 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443795T>G | CA356915600 | CLOCK,TMEM165 | c.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) | |
4 | g.55443796T>A | CA356915604 | CLOCK,TMEM165 | c.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) | |
4 | g.55443796T>C | CA356915607 | CLOCK,TMEM165 | c.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) | |
4 | g.55443796T>G | CA356915612 | CLOCK,TMEM165 | c.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 |
4 | g.55443796T= | CA1459075208 | CLOCK,TMEM165 | c.1793A= (p.Gln598=) c.353-8443T= n.375A= c.409-8443T= c.899-8443T= (n.899-8443T=) c.1616A= (p.Gln539=) | |
4 | g.55443797G>A | CA356915620 | CLOCK,TMEM165 | c.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 |
4 | g.55443797G>C | CA356915616 | CLOCK,TMEM165 | c.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) | |
4 | g.55443797G>T | CA356915618 | CLOCK,TMEM165 | c.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) | |
4 | g.55443798C>A | CA356915626 | CLOCK,TMEM165 | c.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) | |
4 | g.55443798C= | CA1459075211 | CLOCK,TMEM165 | c.1791G= (p.Met597=) c.353-8441C= n.373G= c.409-8441C= c.899-8441C= (n.899-8441C=) c.1614G= (p.Met538=) | |
4 | g.55443798C>G | CA356915637 | CLOCK,TMEM165 | c.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) | |
4 | g.55443798C>T | CA2925814 | CLOCK,TMEM165 | c.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 |
4 | g.55443799A>C | CA356915641 | CLOCK,TMEM165 | c.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) | |
4 | g.55443799A>G | CA356915644 | CLOCK,TMEM165 | c.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) | |
4 | g.55443799A>T | CA356915647 | CLOCK,TMEM165 | c.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) | |
4 | g.55443800T>A | CA356915650 | CLOCK,TMEM165 | c.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) | |
4 | g.55443800T>C | CA2925815 | CLOCK,TMEM165 | c.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 |
4 | g.55443800T>G | CA356915653 | CLOCK,TMEM165 | c.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) | |
4 | g.55443800T= | CA1459075214 | CLOCK,TMEM165 | c.1789A= (p.Met597=) c.353-8439T= n.371A= c.409-8439T= c.899-8439T= (n.899-8439T=) c.1612A= (p.Met538=) | |
4 | g.55443801A>C | CA356915656 | CLOCK,TMEM165 | c.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) | |
4 | g.55443801A>G | CA439485218 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443801A>T | CA356915659 | CLOCK,TMEM165 | c.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) | |
4 | g.55443802T>A | CA356915662 | CLOCK,TMEM165 | c.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) | |
4 | g.55443802T>C | CA356915664 | CLOCK,TMEM165 | c.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) | |
4 | g.55443802T>G | CA356915661 | CLOCK,TMEM165 | c.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) | |
4 | g.55443803T>A | CA356915669 | CLOCK,TMEM165 | c.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) | |
4 | g.55443803T>C | CA356915675 | CLOCK,TMEM165 | c.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) | |
4 | g.55443803T>G | CA356915677 | CLOCK,TMEM165 | c.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) | |
4 | g.55443804T>A | CA439485220 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443804T>C | CA356915695 | CLOCK,TMEM165 | c.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) | |
4 | g.55443804T>G | CA439485223 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443805A>C | CA356915698 | CLOCK,TMEM165 | c.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) | |
4 | g.55443805A>G | CA356915701 | CLOCK,TMEM165 | c.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) | |
4 | g.55443805A>T | CA356915706 | CLOCK,TMEM165 | c.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) | |
4 | g.55443806T>A | CA356915712 | CLOCK,TMEM165 | c.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) | |
4 | g.55443806T>C | CA356915715 | CLOCK,TMEM165 | c.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) | |
4 | g.55443806T>G | CA356915719 | CLOCK,TMEM165 | c.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) | |
4 | g.55443807A>C | CA439485225 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443807A>G | CA439485226 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443807A>T | CA439485227 | CLOCK,TMEM165 | c.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 |
4 | g.55443808G>A | CA356915724 | CLOCK,TMEM165 | c.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 |
4 | g.55443808G>C | CA356915728 | CLOCK,TMEM165 | c.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) | |
4 | g.55443808G>T | CA356915729 | CLOCK,TMEM165 | c.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) | |
4 | g.55443809G>A | CA356915732 | CLOCK,TMEM165 | c.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 |
4 | g.55443809G>C | CA356915731 | CLOCK,TMEM165 | c.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) | |
4 | g.55443809G>T | CA356915730 | CLOCK,TMEM165 | c.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) | |
4 | g.55443810T>A | CA96904774 | CLOCK,TMEM165 | c.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 |
4 | g.55443810T>C | CA2925816 | CLOCK,TMEM165 | c.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 |
4 | g.55443810T>G | CA439485231 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443810T= | CA1459075216 | CLOCK,TMEM165 | c.1779A= (p.Ala593=) c.353-8429T= n.361A= c.409-8429T= c.899-8429T= (n.899-8429T=) c.1602A= (p.Ala534=) | |
4 | g.55443811G>A | CA356915741 | CLOCK,TMEM165 | c.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) | |
4 | g.55443811G>C | CA356915751 | CLOCK,TMEM165 | c.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 |
4 | g.55443811G= | CA1459075221 | CLOCK,TMEM165 | c.1778C= (p.Ala593=) c.353-8428G= n.360C= c.409-8428G= c.899-8428G= (n.899-8428G=) c.1601C= (p.Ala534=) | |
4 | g.55443811G>T | CA356915756 | CLOCK,TMEM165 | c.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 |
4 | g.55443812C>A | CA96904787 | CLOCK,TMEM165 | c.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 |
4 | g.55443812C= | CA1459075223 | CLOCK,TMEM165 | c.1777G= (p.Ala593=) c.353-8427C= n.359G= c.409-8427C= c.899-8427C= (n.899-8427C=) c.1600G= (p.Ala534=) | |
4 | g.55443812C>G | CA356915774 | CLOCK,TMEM165 | c.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) | |
4 | g.55443812C>T | CA356915780 | CLOCK,TMEM165 | c.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) | |
4 | g.55443813A>C | CA439485233 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443813A>G | CA439485234 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443813A>T | CA439485235 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443814A>C | CA356915783 | CLOCK,TMEM165 | c.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) | |
4 | g.55443814A>G | CA356915788 | CLOCK,TMEM165 | c.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) | |
4 | g.55443814A>T | CA356915792 | CLOCK,TMEM165 | c.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) | |
4 | g.55443814_55443815insT | CA2670687917 | CLOCK,TMEM165 | c.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 |
4 | g.55443815G>A | CA356915795 | CLOCK,TMEM165 | c.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 |
4 | g.55443815G>C | CA356915813 | CLOCK,TMEM165 | c.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) | |
4 | g.55443815G= | CA1459075228 | CLOCK,TMEM165 | c.1774C= (p.Leu592=) c.353-8424G= n.356C= c.409-8424G= c.899-8424G= (n.899-8424G=) c.1597C= (p.Leu533=) | |
4 | g.55443815G>T | CA356915817 | CLOCK,TMEM165 | c.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) | |
4 | g.55443816T>A | CA356915823 | CLOCK,TMEM165 | c.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) | |
4 | g.55443816T>C | CA439485237 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443816T>G | CA356915833 | CLOCK,TMEM165 | c.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) | |
4 | g.55443817T>A | CA356915841 | CLOCK,TMEM165 | c.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) | |
4 | g.55443817T>C | CA356915843 | CLOCK,TMEM165 | c.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) | |
4 | g.55443817T>G | CA356915847 | CLOCK,TMEM165 | c.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) | |
4 | g.55443818G>A | CA356915860 | CLOCK,TMEM165 | c.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) | |
4 | g.55443818G>C | CA356915864 | CLOCK,TMEM165 | c.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 |
4 | g.55443818G= | CA1459075230 | CLOCK,TMEM165 | c.1771C= (p.Gln591=) c.353-8421G= n.353C= c.409-8421G= c.899-8421G= (n.899-8421G=) c.1594C= (p.Gln532=) | |
4 | g.55443818G>T | CA356915872 | CLOCK,TMEM165 | c.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) | |
4 | g.55443819C>A | CA356915876 | CLOCK,TMEM165 | c.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) | |
4 | g.55443819C>G | CA356915878 | CLOCK,TMEM165 | c.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) | |
4 | g.55443819C>T | CA439485240 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443820T>A | CA356915885 | CLOCK,TMEM165 | c.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) | |
4 | g.55443820T>C | CA356915893 | CLOCK,TMEM165 | c.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 |
4 | g.55443820T>G | CA356915888 | CLOCK,TMEM165 | c.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) | |
4 | g.55443820T= | CA1459075231 | CLOCK,TMEM165 | c.1769A= (p.Gln590=) c.353-8419T= n.351A= c.409-8419T= c.899-8419T= (n.899-8419T=) c.1592A= (p.Gln531=) | |
4 | g.55443821G>A | CA356915900 | CLOCK,TMEM165 | c.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) | |
4 | g.55443821G>C | CA356915903 | CLOCK,TMEM165 | c.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) | |
4 | g.55443821G= | CA1459075233 | CLOCK,TMEM165 | c.1768C= (p.Gln590=) c.353-8418G= n.350C= c.409-8418G= c.899-8418G= (n.899-8418G=) c.1591C= (p.Gln531=) | |
4 | g.55443821G>T | CA356915915 | CLOCK,TMEM165 | c.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) | |
4 | g.55443821_55443822insAAGCA | CA551651887 | CLOCK,TMEM165 | c.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 |
4 | g.55443821_55443822insAAGCAGAAATAAAGCTCTAAT | CA2530707928 | CLOCK,TMEM165 | c.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) | |
4 | g.55443822G>A | CA439485242 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443822G>C | CA356915918 | CLOCK,TMEM165 | c.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 |
4 | g.55443822G= | CA1459075238 | CLOCK,TMEM165 | c.1767C= (p.Ile589=) c.353-8417G= n.349C= c.409-8417G= c.899-8417G= (n.899-8417G=) c.1590C= (p.Ile530=) | |
4 | g.55443822G>T | CA439485243 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443823A>C | CA356915921 | CLOCK,TMEM165 | c.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) | |
4 | g.55443823A>G | CA356915935 | CLOCK,TMEM165 | c.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) | |
4 | g.55443823A>T | CA356915934 | CLOCK,TMEM165 | c.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) | |
4 | g.55443824T>A | CA356915948 | CLOCK,TMEM165 | c.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) | |
4 | g.55443824T>C | CA2925817 | CLOCK,TMEM165 | c.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 |
4 | g.55443824T>G | CA356915955 | CLOCK,TMEM165 | c.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) | |
4 | g.55443824T= | CA1459075242 | CLOCK,TMEM165 | c.1765A= (p.Ile589=) c.353-8415T= n.347A= c.409-8415T= c.899-8415T= (n.899-8415T=) c.1588A= (p.Ile530=) | |
4 | g.55443825A= | CA1459075244 | CLOCK,TMEM165 | c.1764T= (p.Asn588=) c.353-8414A= n.346T= c.409-8414A= c.899-8414A= (n.899-8414A=) c.1587T= (p.Asn529=) | |
4 | g.55443825A>C | CA356915959 | CLOCK,TMEM165 | c.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 |
4 | g.55443825A>G | CA2925818 | CLOCK,TMEM165 | c.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 |
4 | g.55443825A>T | CA356915963 | CLOCK,TMEM165 | c.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 |
4 | g.55443826T>A | CA356915967 | CLOCK,TMEM165 | c.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) | |
4 | g.55443826T>C | CA356915973 | CLOCK,TMEM165 | c.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 |
4 | g.55443826T>G | CA356915976 | CLOCK,TMEM165 | c.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) | |
4 | g.55443826T= | CA1459075246 | CLOCK,TMEM165 | c.1763A= (p.Asn588=) c.353-8413T= n.345A= c.409-8413T= c.899-8413T= (n.899-8413T=) c.1586A= (p.Asn529=) | |
4 | g.55443827T>A | CA356915980 | CLOCK,TMEM165 | c.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) | |
4 | g.55443827T>C | CA356915985 | CLOCK,TMEM165 | c.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) | |
4 | g.55443827T>G | CA356915991 | CLOCK,TMEM165 | c.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) | |
4 | g.55443828A>C | CA439485251 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443828A>G | CA439485252 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443828A>T | CA439485253 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443829G>A | CA356916005 | CLOCK,TMEM165 | c.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) | |
4 | g.55443829G>C | CA356915997 | CLOCK,TMEM165 | c.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) | |
4 | g.55443829G>T | CA356916001 | CLOCK,TMEM165 | c.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) | |
4 | g.55443831_55443833del | CA2578091690 | CLOCK,TMEM165 | c.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) | |
4 | g.55443830A>C | CA356916006 | CLOCK,TMEM165 | c.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) | |
4 | g.55443830A>G | CA356916007 | CLOCK,TMEM165 | c.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) | |
4 | g.55443830A>T | CA356916008 | CLOCK,TMEM165 | c.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) | |
4 | g.55443831T>A | CA439485255 | CLOCK,TMEM165 | c.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 |
4 | g.55443831T>C | CA439485256 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443831T>G | CA439485257 | CLOCK,TMEM165 | c.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=) |