Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.55443838C>A | CA356916054 | CLOCK,TMEM165 | c.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) | |
4 | g.55443838C>G | CA356916057 | CLOCK,TMEM165 | c.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) | |
4 | g.55443838C>T | CA356916060 | CLOCK,TMEM165 | c.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) | |
4 | g.55443839C>A | CA356916063 | CLOCK,TMEM165 | c.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) | |
4 | g.55443839C>G | CA356916069 | CLOCK,TMEM165 | c.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) | |
4 | g.55443839C>T | CA356916072 | CLOCK,TMEM165 | c.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) | |
4 | g.55443840A>C | CA439485264 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443840A>G | CA439485266 | CLOCK,TMEM165 | c.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 |
4 | g.55443840A>T | CA439485267 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443841G>A | CA356916080 | CLOCK,TMEM165 | c.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) | |
4 | g.55443841G>C | CA356916081 | CLOCK,TMEM165 | c.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) | |
4 | g.55443841G>T | CA356916087 | CLOCK,TMEM165 | c.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) | |
4 | g.55443842A= | CA1459075252 | CLOCK,TMEM165 | c.1747T= (p.Ser583=) c.353-8397A= n.329T= c.409-8397A= c.899-8397A= (n.899-8397A=) c.1570T= (p.Ser524=) | |
4 | g.55443842A>C | CA2925819 | CLOCK,TMEM165 | c.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 |
4 | g.55443842A>G | CA356916094 | CLOCK,TMEM165 | c.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) | |
4 | g.55443842A>T | CA356916097 | CLOCK,TMEM165 | c.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) | |
4 | g.55443843A>C | CA439485268 | CLOCK,TMEM165 | c.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 |
4 | g.55443843A>G | CA439485270 | CLOCK,TMEM165 | c.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 |
4 | g.55443843A>T | CA439485269 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443844G>A | CA356916099 | CLOCK,TMEM165 | c.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) | |
4 | g.55443844G>C | CA356916111 | CLOCK,TMEM165 | c.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) | |
4 | g.55443844G>T | CA356916103 | CLOCK,TMEM165 | c.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 |
4 | g.55443845A>C | CA356916115 | CLOCK,TMEM165 | c.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) | |
4 | g.55443845A>G | CA356916124 | CLOCK,TMEM165 | c.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) | |
4 | g.55443845A>T | CA356916119 | CLOCK,TMEM165 | c.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) | |
4 | g.55443847del | CA2670687918 | CLOCK,TMEM165 | c.1744del (p.Ser582LeufsTer14) c.353-8392del n.326del c.409-8392del c.899-8392del (n.899-8392del) c.1567del (p.Ser523LeufsTer14) | gnomAD v4 |
4 | g.55443846A>C | CA439485274 | CLOCK,TMEM165 | c.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 |
4 | g.55443846A>G | CA439485275 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443846A>T | CA439485276 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443847A>C | CA356916130 | CLOCK,TMEM165 | c.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) | |
4 | g.55443847A>G | CA356916134 | CLOCK,TMEM165 | c.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) | |
4 | g.55443847A>T | CA356916135 | CLOCK,TMEM165 | c.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) | |
4 | g.55443848G>A | CA2925820 | CLOCK,TMEM165 | c.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 |
4 | g.55443848G>C | CA356916136 | CLOCK,TMEM165 | c.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 |
4 | g.55443848G= | CA1459075255 | CLOCK,TMEM165 | c.1741C= (p.Leu581=) c.353-8391G= n.323C= c.409-8391G= c.899-8391G= (n.899-8391G=) c.1564C= (p.Leu522=) | |
4 | g.55443848G>T | CA356916138 | CLOCK,TMEM165 | c.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) | |
4 | g.55443849T>A | CA356916141 | CLOCK,TMEM165 | c.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) | |
4 | g.55443849T>C | CA2925821 | CLOCK,TMEM165 | c.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 |
4 | g.55443849T>G | CA356916146 | CLOCK,TMEM165 | c.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 |
4 | g.55443849T= | CA1459075257 | CLOCK,TMEM165 | c.1740A= (p.Gln580=) c.353-8390T= n.322A= c.409-8390T= c.899-8390T= (n.899-8390T=) c.1563A= (p.Gln521=) | |
4 | g.55443850T>A | CA356916160 | CLOCK,TMEM165 | c.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) | |
4 | g.55443850T>C | CA356916169 | CLOCK,TMEM165 | c.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 |
4 | g.55443850T>G | CA356916171 | CLOCK,TMEM165 | c.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) | |
4 | g.55443850_55443851insA | CA2761734805 | CLOCK,TMEM165 | c.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) | |
4 | g.55443851G>A | CA356916177 | CLOCK,TMEM165 | c.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) | |
4 | g.55443851G>C | CA356916197 | CLOCK,TMEM165 | c.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) | |
4 | g.55443851G>T | CA356916180 | CLOCK,TMEM165 | c.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 |
4 | g.55443852A>C | CA439485281 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443852A>G | CA439485279 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443852A>T | CA439485280 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443853A>C | CA356916202 | CLOCK,TMEM165 | c.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) | |
4 | g.55443853A>G | CA356916205 | CLOCK,TMEM165 | c.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) | |
4 | g.55443853A>T | CA356916209 | CLOCK,TMEM165 | c.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) | |
4 | g.55443854C>A | CA356916212 | CLOCK,TMEM165 | c.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 |
4 | g.55443854C= | CA1459075259 | CLOCK,TMEM165 | c.1735G= (p.Val579=) c.353-8385C= n.317G= c.409-8385C= c.899-8385C= (n.899-8385C=) c.1558G= (p.Val520=) | |
4 | g.55443854C>G | CA356916218 | CLOCK,TMEM165 | c.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) | |
4 | g.55443854C>T | CA356916227 | CLOCK,TMEM165 | c.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 |
4 | g.55443855G>A | CA96904800 | CLOCK,TMEM165 | c.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 |
4 | g.55443855G>C | CA439485282 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443855G= | CA1459075262 | CLOCK,TMEM165 | c.1734C= (p.Ser578=) c.353-8384G= n.316C= c.409-8384G= c.899-8384G= (n.899-8384G=) c.1557C= (p.Ser519=) | |
4 | g.55443855G>T | CA439485283 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443856G>A | CA356916236 | CLOCK,TMEM165 | c.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) | |
4 | g.55443856G>C | CA356916239 | CLOCK,TMEM165 | c.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) | |
4 | g.55443856G>T | CA356916241 | CLOCK,TMEM165 | c.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) | |
4 | g.55443857A>C | CA356916254 | CLOCK,TMEM165 | c.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) | |
4 | g.55443857A>G | CA356916256 | CLOCK,TMEM165 | c.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) | |
4 | g.55443857A>T | CA356916246 | CLOCK,TMEM165 | c.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) | |
4 | g.55443858A>C | CA439485286 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443858A>G | CA439485285 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443858A>T | CA439485287 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443859C>A | CA356916259 | CLOCK,TMEM165 | c.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) | |
4 | g.55443859C>G | CA356916260 | CLOCK,TMEM165 | c.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) | |
4 | g.55443859C>T | CA356916263 | CLOCK,TMEM165 | c.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) | |
4 | g.55443860C>A | CA356916268 | CLOCK,TMEM165 | c.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) | |
4 | g.55443860C>G | CA356916283 | CLOCK,TMEM165 | c.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) | |
4 | g.55443860C>T | CA356916289 | CLOCK,TMEM165 | c.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) | |
4 | g.55443861A>C | CA356916293 | CLOCK,TMEM165 | c.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) | |
4 | g.55443861A>G | CA439485288 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443861A>T | CA356916296 | CLOCK,TMEM165 | c.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) | |
4 | g.55443862A>C | CA356916300 | CLOCK,TMEM165 | c.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) | |
4 | g.55443862A>G | CA356916301 | CLOCK,TMEM165 | c.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) | |
4 | g.55443862A>T | CA356916302 | CLOCK,TMEM165 | c.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) | |
4 | g.55443863A>C | CA356916303 | CLOCK,TMEM165 | c.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) | |
4 | g.55443863A>G | CA356916304 | CLOCK,TMEM165 | c.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) | |
4 | g.55443863A>T | CA356916305 | CLOCK,TMEM165 | c.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) | |
4 | g.55443863_55443864insCAC | CA2761734806 | CLOCK,TMEM165 | c.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) | |
4 | g.55443864A= | CA1459075265 | CLOCK,TMEM165 | c.1725T= (p.Asn575=) c.353-8375A= n.307T= c.409-8375A= c.899-8375A= (n.899-8375A=) c.1548T= (p.Asn516=) | |
4 | g.55443864A>C | CA356916308 | CLOCK,TMEM165 | c.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) | |
4 | g.55443864A>G | CA96904804 | CLOCK,TMEM165 | c.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 |
4 | g.55443864A>T | CA356916312 | CLOCK,TMEM165 | c.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 |
4 | g.55443865T>A | CA356916313 | CLOCK,TMEM165 | c.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) | |
4 | g.55443865T>C | CA356916318 | CLOCK,TMEM165 | c.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 |
4 | g.55443865T>G | CA356916320 | CLOCK,TMEM165 | c.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) | |
4 | g.55443866T>A | CA356916324 | CLOCK,TMEM165 | c.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 |
4 | g.55443866T>C | CA356916325 | CLOCK,TMEM165 | c.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) | |
4 | g.55443866T>G | CA356916326 | CLOCK,TMEM165 | c.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) | |
4 | g.55443866T= | CA1459075272 | CLOCK,TMEM165 | c.1723A= (p.Asn575=) c.353-8373T= n.305A= c.409-8373T= c.899-8373T= (n.899-8373T=) c.1546A= (p.Asn516=) | |
4 | g.55443866_55443867insA | CA796425188 | CLOCK,TMEM165 | c.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 |
4 | g.55443867C>A | CA356916327 | CLOCK,TMEM165 | c.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 |
4 | g.55443867C= | CA1459075277 | CLOCK,TMEM165 | c.1722G= (p.Leu574=) c.353-8372C= n.304G= c.409-8372C= c.899-8372C= (n.899-8372C=) c.1545G= (p.Leu515=) | |
4 | g.55443867C>G | CA356916328 | CLOCK,TMEM165 | c.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) | |
4 | g.55443867C>T | CA96904809 | CLOCK,TMEM165 | c.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 |
4 | g.55443868A>C | CA356916331 | CLOCK,TMEM165 | c.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) | |
4 | g.55443868A>G | CA356916335 | CLOCK,TMEM165 | c.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) | |
4 | g.55443868A>T | CA356916337 | CLOCK,TMEM165 | c.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) | |
4 | g.55443869A>C | CA356916341 | CLOCK,TMEM165 | c.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) | |
4 | g.55443869A>G | CA439485293 | CLOCK,TMEM165 | c.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 |
4 | g.55443869A>T | CA356916344 | CLOCK,TMEM165 | c.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) | |
4 | g.55443869_55443871delinsACC | CA1459075279 | CLOCK,TMEM165 | c.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=) | |
4 | g.55443870C>A | CA439485294 | CLOCK,TMEM165 | c.1719G>T (p.Gly573=) c.353-8369C>A n.301G>T c.409-8369C>A c.899-8369C>A (n.899-8369C>A) c.1542G>T (p.Gly514=) | |
4 | g.55443870C= | CA1459075281 | CLOCK,TMEM165 | c.1719G= (p.Gly573=) c.353-8369C= n.301G= c.409-8369C= c.899-8369C= (n.899-8369C=) c.1542G= (p.Gly514=) | |
4 | g.55443870C>G | CA439485295 | CLOCK,TMEM165 | c.1719G>C (p.Gly573=) c.353-8369C>G n.301G>C c.409-8369C>G c.899-8369C>G (n.899-8369C>G) c.1542G>C (p.Gly514=) | |
4 | g.55443870C>T | CA439485296 | CLOCK,TMEM165 | c.1719G>A (p.Gly573=) c.353-8369C>T n.301G>A c.409-8369C>T c.899-8369C>T (n.899-8369C>T) c.1542G>A (p.Gly514=) | dbSNP gnomAD v4 |
4 | g.55443871_55443872del | CA551651889 | CLOCK,TMEM165 | c.1718_1719del (p.Gly573ValfsTer15) c.353-8368_353-8367del n.300_301del c.409-8368_409-8367del c.899-8368_899-8367del (n.899-8368_899-8367del) c.1541_1542del (p.Gly514ValfsTer15) | dbSNP gnomAD v2 |
4 | g.55443871C>A | CA356916351 | CLOCK,TMEM165 | c.1718G>T (p.Gly573Val) c.353-8368C>A n.300G>T c.409-8368C>A c.899-8368C>A (n.899-8368C>A) c.1541G>T (p.Gly514Val) | gnomAD v4 |
4 | g.55443871C>G | CA356916352 | CLOCK,TMEM165 | c.1718G>C (p.Gly573Ala) c.353-8368C>G n.300G>C c.409-8368C>G c.899-8368C>G (n.899-8368C>G) c.1541G>C (p.Gly514Ala) | |
4 | g.55443871C>T | CA356916349 | CLOCK,TMEM165 | c.1718G>A (p.Gly573Glu) c.353-8368C>T n.300G>A c.409-8368C>T c.899-8368C>T (n.899-8368C>T) c.1541G>A (p.Gly514Glu) | gnomAD v4 |
4 | g.55443872C>A | CA356916354 | CLOCK,TMEM165 | c.1717G>T (p.Gly573Trp) c.353-8367C>A n.299G>T c.409-8367C>A c.899-8367C>A (n.899-8367C>A) c.1540G>T (p.Gly514Trp) | |
4 | g.55443872C= | CA1459075285 | CLOCK,TMEM165 | c.1717G= (p.Gly573=) c.353-8367C= n.299G= c.409-8367C= c.899-8367C= (n.899-8367C=) c.1540G= (p.Gly514=) | |
4 | g.55443872C>G | CA356916353 | CLOCK,TMEM165 | c.1717G>C (p.Gly573Arg) c.353-8367C>G n.299G>C c.409-8367C>G c.899-8367C>G (n.899-8367C>G) c.1540G>C (p.Gly514Arg) | |
4 | g.55443872C>T | CA356916356 | CLOCK,TMEM165 | c.1717G>A (p.Gly573Arg) c.353-8367C>T n.299G>A c.409-8367C>T c.899-8367C>T (n.899-8367C>T) c.1540G>A (p.Gly514Arg) | dbSNP gnomAD v2 |
4 | g.55443873A>C | CA439485302 | CLOCK,TMEM165 | c.1716T>G (p.Pro572=) c.353-8366A>C n.298T>G c.409-8366A>C c.899-8366A>C (n.899-8366A>C) c.1539T>G (p.Pro513=) | |
4 | g.55443873A>G | CA439485301 | CLOCK,TMEM165 | c.1716T>C (p.Pro572=) c.353-8366A>G n.298T>C c.409-8366A>G c.899-8366A>G (n.899-8366A>G) c.1539T>C (p.Pro513=) | |
4 | g.55443873A>T | CA439485300 | CLOCK,TMEM165 | c.1716T>A (p.Pro572=) c.353-8366A>T n.298T>A c.409-8366A>T c.899-8366A>T (n.899-8366A>T) c.1539T>A (p.Pro513=) | |
4 | g.55443873_55443874insAA | CA2670687919 | CLOCK,TMEM165 | c.1716_1717insTT (p.Gly573LeufsTer3) c.353-8366_353-8365insAA n.298_299insTT c.409-8366_409-8365insAA c.899-8366_899-8365insAA (n.899-8366_899-8365insAA) c.1539_1540insTT (p.Gly514LeufsTer3) | gnomAD v4 |
4 | g.55443874G>A | CA356916367 | CLOCK,TMEM165 | c.1715C>T (p.Pro572Leu) c.353-8365G>A n.297C>T c.409-8365G>A c.899-8365G>A (n.899-8365G>A) c.1538C>T (p.Pro513Leu) | |
4 | g.55443874G>C | CA356916375 | CLOCK,TMEM165 | c.1715C>G (p.Pro572Arg) c.353-8365G>C n.297C>G c.409-8365G>C c.899-8365G>C (n.899-8365G>C) c.1538C>G (p.Pro513Arg) | |
4 | g.55443874G>T | CA356916373 | CLOCK,TMEM165 | c.1715C>A (p.Pro572His) c.353-8365G>T n.297C>A c.409-8365G>T c.899-8365G>T (n.899-8365G>T) c.1538C>A (p.Pro513His) | |
4 | g.55443874_55443875insAT | CA2670687920 | CLOCK,TMEM165 | c.1714_1715insAT (p.Pro572HisfsTer4) c.353-8365_353-8364insAT n.296_297insAT c.409-8365_409-8364insAT c.899-8365_899-8364insAT (n.899-8365_899-8364insAT) c.1537_1538insAT (p.Pro513HisfsTer4) | gnomAD v4 |
4 | g.55443875G>A | CA356916379 | CLOCK,TMEM165 | c.1714C>T (p.Pro572Ser) c.353-8364G>A n.296C>T c.409-8364G>A c.899-8364G>A (n.899-8364G>A) c.1537C>T (p.Pro513Ser) | COSMIC |
4 | g.55443875G>C | CA356916383 | CLOCK,TMEM165 | c.1714C>G (p.Pro572Ala) c.353-8364G>C n.296C>G c.409-8364G>C c.899-8364G>C (n.899-8364G>C) c.1537C>G (p.Pro513Ala) | |
4 | g.55443875G= | CA1459075287 | CLOCK,TMEM165 | c.1714C= (p.Pro572=) c.353-8364G= n.296C= c.409-8364G= c.899-8364G= (n.899-8364G=) c.1537C= (p.Pro513=) | |
4 | g.55443875G>T | CA356916380 | CLOCK,TMEM165 | c.1714C>A (p.Pro572Thr) c.353-8364G>T n.296C>A c.409-8364G>T c.899-8364G>T (n.899-8364G>T) c.1537C>A (p.Pro513Thr) | dbSNP gnomAD v2 |
4 | g.55443876A>C | CA356916384 | CLOCK,TMEM165 | c.1713T>G (p.Asn571Lys) c.353-8363A>C n.295T>G c.409-8363A>C c.899-8363A>C (n.899-8363A>C) c.1536T>G (p.Asn512Lys) | |
4 | g.55443876A>G | CA439485303 | CLOCK,TMEM165 | c.1713T>C (p.Asn571=) c.353-8363A>G n.295T>C c.409-8363A>G c.899-8363A>G (n.899-8363A>G) c.1536T>C (p.Asn512=) | |
4 | g.55443876A>T | CA356916385 | CLOCK,TMEM165 | c.1713T>A (p.Asn571Lys) c.353-8363A>T n.295T>A c.409-8363A>T c.899-8363A>T (n.899-8363A>T) c.1536T>A (p.Asn512Lys) | gnomAD v4 |
4 | g.55443877T>A | CA356916386 | CLOCK,TMEM165 | c.1712A>T (p.Asn571Ile) c.353-8362T>A n.294A>T c.409-8362T>A c.899-8362T>A (n.899-8362T>A) c.1535A>T (p.Asn512Ile) | |
4 | g.55443877T>C | CA356916388 | CLOCK,TMEM165 | c.1712A>G (p.Asn571Ser) c.353-8362T>C n.294A>G c.409-8362T>C c.899-8362T>C (n.899-8362T>C) c.1535A>G (p.Asn512Ser) | |
4 | g.55443877T>G | CA356916390 | CLOCK,TMEM165 | c.1712A>C (p.Asn571Thr) c.353-8362T>G n.294A>C c.409-8362T>G c.899-8362T>G (n.899-8362T>G) c.1535A>C (p.Asn512Thr) | |
4 | g.55443878T>A | CA356916392 | CLOCK,TMEM165 | c.1711A>T (p.Asn571Tyr) c.353-8361T>A n.293A>T c.409-8361T>A c.899-8361T>A (n.899-8361T>A) c.1534A>T (p.Asn512Tyr) | |
4 | g.55443878T>C | CA356916393 | CLOCK,TMEM165 | c.1711A>G (p.Asn571Asp) c.353-8361T>C n.293A>G c.409-8361T>C c.899-8361T>C (n.899-8361T>C) c.1534A>G (p.Asn512Asp) | gnomAD v4 |
4 | g.55443878T>G | CA356916394 | CLOCK,TMEM165 | c.1711A>C (p.Asn571His) c.353-8361T>G n.293A>C c.409-8361T>G c.899-8361T>G (n.899-8361T>G) c.1534A>C (p.Asn512His) | |
4 | g.55443879T>A | CA439485305 | CLOCK,TMEM165 | c.1710A>T (p.Ser570=) c.353-8360T>A n.292A>T c.409-8360T>A c.899-8360T>A (n.899-8360T>A) c.1533A>T (p.Ser511=) | |
4 | g.55443879T>C | CA439485306 | CLOCK,TMEM165 | c.1710A>G (p.Ser570=) c.353-8360T>C n.292A>G c.409-8360T>C c.899-8360T>C (n.899-8360T>C) c.1533A>G (p.Ser511=) | |
4 | g.55443879T>G | CA439485307 | CLOCK,TMEM165 | c.1710A>C (p.Ser570=) c.353-8360T>G n.292A>C c.409-8360T>G c.899-8360T>G (n.899-8360T>G) c.1533A>C (p.Ser511=) | |
4 | g.55443880G>A | CA356916396 | CLOCK,TMEM165 | c.1709C>T (p.Ser570Leu) c.353-8359G>A n.291C>T c.409-8359G>A c.899-8359G>A (n.899-8359G>A) c.1532C>T (p.Ser511Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55443880G>C | CA356916399 | CLOCK,TMEM165 | c.1709C>G (p.Ser570Ter) c.353-8359G>C n.291C>G c.409-8359G>C c.899-8359G>C (n.899-8359G>C) c.1532C>G (p.Ser511Ter) | COSMIC |
4 | g.55443880G= | CA1459075289 | CLOCK,TMEM165 | c.1709C= (p.Ser570=) c.353-8359G= n.291C= c.409-8359G= c.899-8359G= (n.899-8359G=) c.1532C= (p.Ser511=) | |
4 | g.55443880G>T | CA356916400 | CLOCK,TMEM165 | c.1709C>A (p.Ser570Ter) c.353-8359G>T n.291C>A c.409-8359G>T c.899-8359G>T (n.899-8359G>T) c.1532C>A (p.Ser511Ter) | |
4 | g.55443881A= | CA1459075294 | CLOCK,TMEM165 | c.1708T= (p.Ser570=) c.353-8358A= n.290T= c.409-8358A= c.899-8358A= (n.899-8358A=) c.1531T= (p.Ser511=) | |
4 | g.55443881A>C | CA356916402 | CLOCK,TMEM165 | c.1708T>G (p.Ser570Ala) c.353-8358A>C n.290T>G c.409-8358A>C c.899-8358A>C (n.899-8358A>C) c.1531T>G (p.Ser511Ala) | |
4 | g.55443881A>G | CA356916401 | CLOCK,TMEM165 | c.1708T>C (p.Ser570Pro) c.353-8358A>G n.290T>C c.409-8358A>G c.899-8358A>G (n.899-8358A>G) c.1531T>C (p.Ser511Pro) | |
4 | g.55443881A>T | CA2925822 | CLOCK,TMEM165 | c.1708T>A (p.Ser570Thr) c.353-8358A>T n.290T>A c.409-8358A>T c.899-8358A>T (n.899-8358A>T) c.1531T>A (p.Ser511Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443882T>A | CA356916403 | CLOCK,TMEM165 | c.1707A>T (p.Gln569His) c.353-8357T>A n.289A>T c.409-8357T>A c.899-8357T>A (n.899-8357T>A) c.1530A>T (p.Gln510His) | |
4 | g.55443882T>C | CA439485308 | CLOCK,TMEM165 | c.1707A>G (p.Gln569=) c.353-8357T>C n.289A>G c.409-8357T>C c.899-8357T>C (n.899-8357T>C) c.1530A>G (p.Gln510=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443882T>G | CA356916404 | CLOCK,TMEM165 | c.1707A>C (p.Gln569His) c.353-8357T>G n.289A>C c.409-8357T>G c.899-8357T>G (n.899-8357T>G) c.1530A>C (p.Gln510His) | |
4 | g.55443882T= | CA1459075297 | CLOCK,TMEM165 | c.1707A= (p.Gln569=) c.353-8357T= n.289A= c.409-8357T= c.899-8357T= (n.899-8357T=) c.1530A= (p.Gln510=) | |
4 | g.55443883T>A | CA356916407 | CLOCK,TMEM165 | c.1706A>T (p.Gln569Leu) c.353-8356T>A n.288A>T c.409-8356T>A c.899-8356T>A (n.899-8356T>A) c.1529A>T (p.Gln510Leu) | COSMIC |
4 | g.55443883T>C | CA2925823 | CLOCK,TMEM165 | c.1706A>G (p.Gln569Arg) c.353-8356T>C n.288A>G c.409-8356T>C c.899-8356T>C (n.899-8356T>C) c.1529A>G (p.Gln510Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443883T>G | CA356916410 | CLOCK,TMEM165 | c.1706A>C (p.Gln569Pro) c.353-8356T>G n.288A>C c.409-8356T>G c.899-8356T>G (n.899-8356T>G) c.1529A>C (p.Gln510Pro) | dbSNP gnomAD v4 |
4 | g.55443883T= | CA1459075300 | CLOCK,TMEM165 | c.1706A= (p.Gln569=) c.353-8356T= n.288A= c.409-8356T= c.899-8356T= (n.899-8356T=) c.1529A= (p.Gln510=) | |
4 | g.55443884G>A | CA356916418 | CLOCK,TMEM165 | c.1705C>T (p.Gln569Ter) c.353-8355G>A n.287C>T c.409-8355G>A c.899-8355G>A (n.899-8355G>A) c.1528C>T (p.Gln510Ter) | |
4 | g.55443884G>C | CA356916419 | CLOCK,TMEM165 | c.1705C>G (p.Gln569Glu) c.353-8355G>C n.287C>G c.409-8355G>C c.899-8355G>C (n.899-8355G>C) c.1528C>G (p.Gln510Glu) | |
4 | g.55443884G>T | CA356916421 | CLOCK,TMEM165 | c.1705C>A (p.Gln569Lys) c.353-8355G>T n.287C>A c.409-8355G>T c.899-8355G>T (n.899-8355G>T) c.1528C>A (p.Gln510Lys) | |
4 | g.55443885T>A | CA356916424 | CLOCK,TMEM165 | c.1704A>T (p.Gln568His) c.353-8354T>A n.286A>T c.409-8354T>A c.899-8354T>A (n.899-8354T>A) c.1527A>T (p.Gln509His) | |
4 | g.55443885T>C | CA2925824 | CLOCK,TMEM165 | c.1704A>G (p.Gln568=) c.353-8354T>C n.286A>G c.409-8354T>C c.899-8354T>C (n.899-8354T>C) c.1527A>G (p.Gln509=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443885T>G | CA356916433 | CLOCK,TMEM165 | c.1704A>C (p.Gln568His) c.353-8354T>G n.286A>C c.409-8354T>G c.899-8354T>G (n.899-8354T>G) c.1527A>C (p.Gln509His) | |
4 | g.55443885T= | CA1459075303 | CLOCK,TMEM165 | c.1704A= (p.Gln568=) c.353-8354T= n.286A= c.409-8354T= c.899-8354T= (n.899-8354T=) c.1527A= (p.Gln509=) | |
4 | g.55443886T>A | CA356916438 | CLOCK,TMEM165 | c.1703A>T (p.Gln568Leu) c.353-8353T>A n.285A>T c.409-8353T>A c.899-8353T>A (n.899-8353T>A) c.1526A>T (p.Gln509Leu) | |
4 | g.55443886T>C | CA356916436 | CLOCK,TMEM165 | c.1703A>G (p.Gln568Arg) c.353-8353T>C n.285A>G c.409-8353T>C c.899-8353T>C (n.899-8353T>C) c.1526A>G (p.Gln509Arg) | |
4 | g.55443886T>G | CA356916434 | CLOCK,TMEM165 | c.1703A>C (p.Gln568Pro) c.353-8353T>G n.285A>C c.409-8353T>G c.899-8353T>G (n.899-8353T>G) c.1526A>C (p.Gln509Pro) | |
4 | g.55443887G>A | CA356916442 | CLOCK,TMEM165 | c.1702C>T (p.Gln568Ter) c.353-8352G>A n.284C>T c.409-8352G>A c.899-8352G>A (n.899-8352G>A) c.1525C>T (p.Gln509Ter) | |
4 | g.55443887G>C | CA356916444 | CLOCK,TMEM165 | c.1702C>G (p.Gln568Glu) c.353-8352G>C n.284C>G c.409-8352G>C c.899-8352G>C (n.899-8352G>C) c.1525C>G (p.Gln509Glu) | |
4 | g.55443887G>T | CA356916445 | CLOCK,TMEM165 | c.1702C>A (p.Gln568Lys) c.353-8352G>T n.284C>A c.409-8352G>T c.899-8352G>T (n.899-8352G>T) c.1525C>A (p.Gln509Lys) | |
4 | g.55443888C>A | CA356916448 | CLOCK,TMEM165 | c.1701G>T (p.Leu567Phe) c.353-8351C>A n.283G>T c.409-8351C>A c.899-8351C>A (n.899-8351C>A) c.1524G>T (p.Leu508Phe) | |
4 | g.55443888C>G | CA356916450 | CLOCK,TMEM165 | c.1701G>C (p.Leu567Phe) c.353-8351C>G n.283G>C c.409-8351C>G c.899-8351C>G (n.899-8351C>G) c.1524G>C (p.Leu508Phe) | |
4 | g.55443888C>T | CA439485313 | CLOCK,TMEM165 | c.1701G>A (p.Leu567=) c.353-8351C>T n.283G>A c.409-8351C>T c.899-8351C>T (n.899-8351C>T) c.1524G>A (p.Leu508=) | |
4 | g.55443889A= | CA1459075306 | CLOCK,TMEM165 | c.1700T= (p.Leu567=) c.353-8350A= n.282T= c.409-8350A= c.899-8350A= (n.899-8350A=) c.1523T= (p.Leu508=) | |
4 | g.55443889A>C | CA356916453 | CLOCK,TMEM165 | c.1700T>G (p.Leu567Trp) c.353-8350A>C n.282T>G c.409-8350A>C c.899-8350A>C (n.899-8350A>C) c.1523T>G (p.Leu508Trp) | gnomAD v4 |
4 | g.55443889A>G | CA356916454 | CLOCK,TMEM165 | c.1700T>C (p.Leu567Ser) c.353-8350A>G n.282T>C c.409-8350A>G c.899-8350A>G (n.899-8350A>G) c.1523T>C (p.Leu508Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443889A>T | CA356916456 | CLOCK,TMEM165 | c.1700T>A (p.Leu567Ter) c.353-8350A>T n.282T>A c.409-8350A>T c.899-8350A>T (n.899-8350A>T) c.1523T>A (p.Leu508Ter) | |
4 | g.55443890A>C | CA356916458 | CLOCK,TMEM165 | c.1699T>G (p.Leu567Val) c.353-8349A>C n.281T>G c.409-8349A>C c.899-8349A>C (n.899-8349A>C) c.1522T>G (p.Leu508Val) | |
4 | g.55443890A>G | CA439485317 | CLOCK,TMEM165 | c.1699T>C (p.Leu567=) c.353-8349A>G n.281T>C c.409-8349A>G c.899-8349A>G (n.899-8349A>G) c.1522T>C (p.Leu508=) | gnomAD v4 |
4 | g.55443890A>T | CA356916459 | CLOCK,TMEM165 | c.1699T>A (p.Leu567Met) c.353-8349A>T n.281T>A c.409-8349A>T c.899-8349A>T (n.899-8349A>T) c.1522T>A (p.Leu508Met) | |
4 | g.55443891A>C | CA356916461 | CLOCK,TMEM165 | c.1698T>G (p.Phe566Leu) c.353-8348A>C n.280T>G c.409-8348A>C c.899-8348A>C (n.899-8348A>C) c.1521T>G (p.Phe507Leu) | |
4 | g.55443891A>G | CA439485318 | CLOCK,TMEM165 | c.1698T>C (p.Phe566=) c.353-8348A>G n.280T>C c.409-8348A>G c.899-8348A>G (n.899-8348A>G) c.1521T>C (p.Phe507=) | |
4 | g.55443891A>T | CA356916463 | CLOCK,TMEM165 | c.1698T>A (p.Phe566Leu) c.353-8348A>T n.280T>A c.409-8348A>T c.899-8348A>T (n.899-8348A>T) c.1521T>A (p.Phe507Leu) | |
4 | g.55443892A>C | CA356916468 | CLOCK,TMEM165 | c.1697T>G (p.Phe566Cys) c.353-8347A>C n.279T>G c.409-8347A>C c.899-8347A>C (n.899-8347A>C) c.1520T>G (p.Phe507Cys) | |
4 | g.55443892A>G | CA356916466 | CLOCK,TMEM165 | c.1697T>C (p.Phe566Ser) c.353-8347A>G n.279T>C c.409-8347A>G c.899-8347A>G (n.899-8347A>G) c.1520T>C (p.Phe507Ser) | |
4 | g.55443892A>T | CA356916465 | CLOCK,TMEM165 | c.1697T>A (p.Phe566Tyr) c.353-8347A>T n.279T>A c.409-8347A>T c.899-8347A>T (n.899-8347A>T) c.1520T>A (p.Phe507Tyr) | |
4 | g.55443893A>C | CA356916478 | CLOCK,TMEM165 | c.1696T>G (p.Phe566Val) c.353-8346A>C n.278T>G c.409-8346A>C c.899-8346A>C (n.899-8346A>C) c.1519T>G (p.Phe507Val) | |
4 | g.55443893A>G | CA356916480 | CLOCK,TMEM165 | c.1696T>C (p.Phe566Leu) c.353-8346A>G n.278T>C c.409-8346A>G c.899-8346A>G (n.899-8346A>G) c.1519T>C (p.Phe507Leu) | |
4 | g.55443893A>T | CA356916482 | CLOCK,TMEM165 | c.1696T>A (p.Phe566Ile) c.353-8346A>T n.278T>A c.409-8346A>T c.899-8346A>T (n.899-8346A>T) c.1519T>A (p.Phe507Ile) | |
4 | g.55443894C>A | CA356916484 | CLOCK,TMEM165 | c.1695G>T (p.Met565Ile) c.353-8345C>A n.277G>T c.409-8345C>A c.899-8345C>A (n.899-8345C>A) c.1518G>T (p.Met506Ile) | |
4 | g.55443894C= | CA1459075308 | CLOCK,TMEM165 | c.1695G= (p.Met565=) c.353-8345C= n.277G= c.409-8345C= c.899-8345C= (n.899-8345C=) c.1518G= (p.Met506=) | |
4 | g.55443894C>G | CA356916485 | CLOCK,TMEM165 | c.1695G>C (p.Met565Ile) c.353-8345C>G n.277G>C c.409-8345C>G c.899-8345C>G (n.899-8345C>G) c.1518G>C (p.Met506Ile) | |
4 | g.55443894C>T | CA2925825 | CLOCK,TMEM165 | c.1695G>A (p.Met565Ile) c.353-8345C>T n.277G>A c.409-8345C>T c.899-8345C>T (n.899-8345C>T) c.1518G>A (p.Met506Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443895A>C | CA356916488 | CLOCK,TMEM165 | c.1694T>G (p.Met565Arg) c.353-8344A>C n.276T>G c.409-8344A>C c.899-8344A>C (n.899-8344A>C) c.1517T>G (p.Met506Arg) | |
4 | g.55443895A>G | CA356916499 | CLOCK,TMEM165 | c.1694T>C (p.Met565Thr) c.353-8344A>G n.276T>C c.409-8344A>G c.899-8344A>G (n.899-8344A>G) c.1517T>C (p.Met506Thr) | |
4 | g.55443895A>T | CA356916502 | CLOCK,TMEM165 | c.1694T>A (p.Met565Lys) c.353-8344A>T n.276T>A c.409-8344A>T c.899-8344A>T (n.899-8344A>T) c.1517T>A (p.Met506Lys) | |
4 | g.55443895_55443896insG | CA2838979537 | CLOCK,TMEM165 | c.1693_1694insC (p.Met565ThrfsTer24) c.353-8344_353-8343insG n.275_276insC c.409-8344_409-8343insG c.899-8344_899-8343insG (n.899-8344_899-8343insG) c.1516_1517insC (p.Met506ThrfsTer24) | |
4 | g.55443896T>A | CA356916506 | CLOCK,TMEM165 | c.1693A>T (p.Met565Leu) c.353-8343T>A n.275A>T c.409-8343T>A c.899-8343T>A (n.899-8343T>A) c.1516A>T (p.Met506Leu) | |
4 | g.55443896T>C | CA356916508 | CLOCK,TMEM165 | c.1693A>G (p.Met565Val) c.353-8343T>C n.275A>G c.409-8343T>C c.899-8343T>C (n.899-8343T>C) c.1516A>G (p.Met506Val) | |
4 | g.55443896T>G | CA356916516 | CLOCK,TMEM165 | c.1693A>C (p.Met565Leu) c.353-8343T>G n.275A>C c.409-8343T>G c.899-8343T>G (n.899-8343T>G) c.1516A>C (p.Met506Leu) | |
4 | g.55443897C>A | CA356916525 | CLOCK,TMEM165 | c.1693-1G>T (n.1693-1G>T) c.353-8342C>A n.275-1G>T c.409-8342C>A c.899-8342C>A (n.899-8342C>A) c.1516-1G>T (n.1516-1G>T) | |
4 | g.55443897C>G | CA356916523 | CLOCK,TMEM165 | c.1693-1G>C (n.1693-1G>C) c.353-8342C>G n.275-1G>C c.409-8342C>G c.899-8342C>G (n.899-8342C>G) c.1516-1G>C (n.1516-1G>C) | |
4 | g.55443897C>T | CA356916518 | CLOCK,TMEM165 | c.1693-1G>A (n.1693-1G>A) c.353-8342C>T n.275-1G>A c.409-8342C>T c.899-8342C>T (n.899-8342C>T) c.1516-1G>A (n.1516-1G>A) | gnomAD v4 |
4 | g.55443898T>A | CA356916527 | CLOCK,TMEM165 | c.1693-2A>T (n.1693-2A>T) c.353-8341T>A n.275-2A>T c.409-8341T>A c.899-8341T>A (n.899-8341T>A) c.1516-2A>T (n.1516-2A>T) | |
4 | g.55443898T>C | CA356916533 | CLOCK,TMEM165 | c.1693-2A>G (n.1693-2A>G) c.353-8341T>C n.275-2A>G c.409-8341T>C c.899-8341T>C (n.899-8341T>C) c.1516-2A>G (n.1516-2A>G) | |
4 | g.55443898T>G | CA356916530 | CLOCK,TMEM165 | c.1693-2A>C (n.1693-2A>C) c.353-8341T>G n.275-2A>C c.409-8341T>G c.899-8341T>G (n.899-8341T>G) c.1516-2A>C (n.1516-2A>C) | |
4 | g.55443900T>C | CA2578091695 | CLOCK,TMEM165 | c.1693-4A>G (n.1693-4A>G) c.353-8339T>C n.275-4A>G c.409-8339T>C c.899-8339T>C (n.899-8339T>C) c.1516-4A>G (n.1516-4A>G) | |
4 | g.55443900_55443901delinsTA | CA1459075310 | CLOCK,TMEM165 | c.1693-5_1693-4delinsTA (n.1693-5_1693-4delinsTA) c.353-8339_353-8338delinsTA n.275-5_275-4delinsTA c.409-8339_409-8338delinsTA c.899-8339_899-8338delinsTA (n.899-8339_899-8338delinsTA) c.1516-5_1516-4delinsTA (n.1516-5_1516-4delinsTA) | |
4 | g.55443905dup | CA2842058970 | CLOCK,TMEM165 | c.1693-5dup (n.1693-5dup) c.353-8334dup n.275-5dup c.409-8334dup c.899-8334dup (n.899-8334dup) c.1516-5dup (n.1516-5dup) | |
4 | g.55443905del | CA551651893 | CLOCK,TMEM165 | c.1693-5del (n.1693-5del) c.353-8334del n.275-5del c.409-8334del c.899-8334del (n.899-8334del) c.1516-5del (n.1516-5del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55443902A>G | CA2761734807 | CLOCK,TMEM165 | c.1693-6T>C (n.1693-6T>C) c.353-8337A>G n.275-6T>C c.409-8337A>G c.899-8337A>G (n.899-8337A>G) c.1516-6T>C (n.1516-6T>C) | |
4 | g.55443903A>G | CA645531122 | CLOCK,TMEM165 | c.1693-7T>C (n.1693-7T>C) c.353-8336A>G n.275-7T>C c.409-8336A>G c.899-8336A>G (n.899-8336A>G) c.1516-7T>C (n.1516-7T>C) | COSMIC |
4 | g.55443906T>C | CA1459075314 | CLOCK,TMEM165 | c.1693-10A>G (n.1693-10A>G) c.353-8333T>C n.275-10A>G c.409-8333T>C c.899-8333T>C (n.899-8333T>C) c.1516-10A>G (n.1516-10A>G) | dbSNP gnomAD v4 |
4 | g.55443906T>G | CA2670687921 | CLOCK,TMEM165 | c.1693-10A>C (n.1693-10A>C) c.353-8333T>G n.275-10A>C c.409-8333T>G c.899-8333T>G (n.899-8333T>G) c.1516-10A>C (n.1516-10A>C) | gnomAD v4 |
4 | g.55443906T= | CA1459075313 | CLOCK,TMEM165 | c.1693-10A= (n.1693-10A=) c.353-8333T= n.275-10A= c.409-8333T= c.899-8333T= (n.899-8333T=) c.1516-10A= (n.1516-10A=) | |
4 | g.55443907A= | CA1459075316 | CLOCK,TMEM165 | c.1693-11T= (n.1693-11T=) c.353-8332A= n.275-11T= c.409-8332A= c.899-8332A= (n.899-8332A=) c.1516-11T= (n.1516-11T=) | |
4 | g.55443907A>T | CA551651894 | CLOCK,TMEM165 | c.1693-11T>A (n.1693-11T>A) c.353-8332A>T n.275-11T>A c.409-8332A>T c.899-8332A>T (n.899-8332A>T) c.1516-11T>A (n.1516-11T>A) | dbSNP gnomAD v2 |
4 | g.55443908A>C | CA2670687922 | CLOCK,TMEM165 | c.1693-12T>G (n.1693-12T>G) c.353-8331A>C n.275-12T>G c.409-8331A>C c.899-8331A>C (n.899-8331A>C) c.1516-12T>G (n.1516-12T>G) | gnomAD v4 |
4 | g.55443908A>T | CA2578091696 | CLOCK,TMEM165 | c.1693-12T>A (n.1693-12T>A) c.353-8331A>T n.275-12T>A c.409-8331A>T c.899-8331A>T (n.899-8331A>T) c.1516-12T>A (n.1516-12T>A) | |
4 | g.55443909A= | CA1459075319 | CLOCK,TMEM165 | c.1693-13T= (n.1693-13T=) c.353-8330A= n.275-13T= c.409-8330A= c.899-8330A= (n.899-8330A=) c.1516-13T= (n.1516-13T=) | |
4 | g.55443909A>G | CA2925826 | CLOCK,TMEM165 | c.1693-13T>C (n.1693-13T>C) c.353-8330A>G n.275-13T>C c.409-8330A>G c.899-8330A>G (n.899-8330A>G) c.1516-13T>C (n.1516-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443910G>C | CA796425232 | CLOCK,TMEM165 | c.1693-14C>G (n.1693-14C>G) c.353-8329G>C n.275-14C>G c.409-8329G>C c.899-8329G>C (n.899-8329G>C) c.1516-14C>G (n.1516-14C>G) | dbSNP |
4 | g.55443910G= | CA1459075323 | CLOCK,TMEM165 | c.1693-14C= (n.1693-14C=) c.353-8329G= n.275-14C= c.409-8329G= c.899-8329G= (n.899-8329G=) c.1516-14C= (n.1516-14C=) | |
4 | g.55443910_55443911delinsGA | CA1459075322 | CLOCK,TMEM165 | c.1693-15_1693-14delinsTC (n.1693-15_1693-14delinsTC) c.353-8329_353-8328delinsGA n.275-15_275-14delinsTC c.409-8329_409-8328delinsGA c.899-8329_899-8328delinsGA (n.899-8329_899-8328delinsGA) c.1516-15_1516-14delinsTC (n.1516-15_1516-14delinsTC) | |
4 | g.55443910_55443911insCTCTA | CA551651895 | CLOCK,TMEM165 | c.1693-15_1693-14insTAGAG (n.1693-15_1693-14insTAGAG) c.353-8329_353-8328insCTCTA n.275-15_275-14insTAGAG c.409-8329_409-8328insCTCTA c.899-8329_899-8328insCTCTA (n.899-8329_899-8328insCTCTA) c.1516-15_1516-14insTAGAG (n.1516-15_1516-14insTAGAG) | dbSNP gnomAD v2 |
4 | g.55443911del | CA1459075327 | CLOCK,TMEM165 | c.1693-15del (n.1693-15del) c.353-8328del n.275-15del c.409-8328del c.899-8328del (n.899-8328del) c.1516-15del (n.1516-15del) | dbSNP |
4 | g.55443911A>G | CA2670687923 | CLOCK,TMEM165 | c.1693-15T>C (n.1693-15T>C) c.353-8328A>G n.275-15T>C c.409-8328A>G c.899-8328A>G (n.899-8328A>G) c.1516-15T>C (n.1516-15T>C) | gnomAD v4 |
4 | g.55443913T>G | CA796425233 | CLOCK,TMEM165 | c.1693-17A>C (n.1693-17A>C) c.353-8326T>G n.275-17A>C c.409-8326T>G c.899-8326T>G (n.899-8326T>G) c.1516-17A>C (n.1516-17A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55443913T= | CA1459075328 | CLOCK,TMEM165 | c.1693-17A= (n.1693-17A=) c.353-8326T= n.275-17A= c.409-8326T= c.899-8326T= (n.899-8326T=) c.1516-17A= (n.1516-17A=) | |
4 | g.55443914_55443916delinsATG | CA1459075330 | CLOCK,TMEM165 | c.1693-20_1693-18delinsCAT (n.1693-20_1693-18delinsCAT) c.353-8325_353-8323delinsATG n.275-20_275-18delinsCAT c.409-8325_409-8323delinsATG c.899-8325_899-8323delinsATG (n.899-8325_899-8323delinsATG) c.1516-20_1516-18delinsCAT (n.1516-20_1516-18delinsCAT) | |
4 | g.55443915T>C | CA2925828 | CLOCK,TMEM165 | c.1693-19A>G (n.1693-19A>G) c.353-8324T>C n.275-19A>G c.409-8324T>C c.899-8324T>C (n.899-8324T>C) c.1516-19A>G (n.1516-19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443915T= | CA1459075332 | CLOCK,TMEM165 | c.1693-19A= (n.1693-19A=) c.353-8324T= n.275-19A= c.409-8324T= c.899-8324T= (n.899-8324T=) c.1516-19A= (n.1516-19A=) | |
4 | g.55443916_55443917del | CA2925827 | CLOCK,TMEM165 | c.1693-20_1693-19del (n.1693-20_1693-19del) c.353-8323_353-8322del n.275-20_275-19del c.409-8323_409-8322del c.899-8323_899-8322del (n.899-8323_899-8322del) c.1516-20_1516-19del (n.1516-20_1516-19del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443916G>T | CA2670687924 | CLOCK,TMEM165 | c.1693-20C>A (n.1693-20C>A) c.353-8323G>T n.275-20C>A c.409-8323G>T c.899-8323G>T (n.899-8323G>T) c.1516-20C>A (n.1516-20C>A) | gnomAD v4 |
4 | g.55443918T>A | CA2670687925 | CLOCK,TMEM165 | c.1693-22A>T (n.1693-22A>T) c.353-8321T>A n.275-22A>T c.409-8321T>A c.899-8321T>A (n.899-8321T>A) c.1516-22A>T (n.1516-22A>T) | gnomAD v4 |
4 | g.55443918T>G | CA2598175393 | CLOCK,TMEM165 | c.1693-22A>C (n.1693-22A>C) c.353-8321T>G n.275-22A>C c.409-8321T>G c.899-8321T>G (n.899-8321T>G) c.1516-22A>C (n.1516-22A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55443919A= | CA1459075334 | CLOCK,TMEM165 | c.1693-23T= (n.1693-23T=) c.353-8320A= n.275-23T= c.409-8320A= c.899-8320A= (n.899-8320A=) c.1516-23T= (n.1516-23T=) | |
4 | g.55443919A>G | CA551651896 | CLOCK,TMEM165 | c.1693-23T>C (n.1693-23T>C) c.353-8320A>G n.275-23T>C c.409-8320A>G c.899-8320A>G (n.899-8320A>G) c.1516-23T>C (n.1516-23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443922A= | CA1459075335 | CLOCK,TMEM165 | c.1693-26T= (n.1693-26T=) c.353-8317A= n.275-26T= c.409-8317A= c.899-8317A= (n.899-8317A=) c.1516-26T= (n.1516-26T=) | |
4 | g.55443923T>G | CA2670687926 | CLOCK,TMEM165 | c.1693-27A>C (n.1693-27A>C) c.353-8316T>G n.275-27A>C c.409-8316T>G c.899-8316T>G (n.899-8316T>G) c.1516-27A>C (n.1516-27A>C) | gnomAD v4 |
4 | g.55443923_55443924insTT | CA551651897 | CLOCK,TMEM165 | c.1693-27_1693-26insAA (n.1693-27_1693-26insAA) c.353-8316_353-8315insTT n.275-27_275-26insAA c.409-8316_409-8315insTT c.899-8316_899-8315insTT (n.899-8316_899-8315insTT) c.1516-27_1516-26insAA (n.1516-27_1516-26insAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443923_55443924delinsTG | CA1459075337 | CLOCK,TMEM165 | c.1693-28_1693-27delinsCA (n.1693-28_1693-27delinsCA) c.353-8316_353-8315delinsTG n.275-28_275-27delinsCA c.409-8316_409-8315delinsTG c.899-8316_899-8315delinsTG (n.899-8316_899-8315delinsTG) c.1516-28_1516-27delinsCA (n.1516-28_1516-27delinsCA) | |
4 | g.55443924del | CA551651899 | CLOCK,TMEM165 | c.1693-28del (n.1693-28del) c.353-8315del n.275-28del c.409-8315del c.899-8315del (n.899-8315del) c.1516-28del (n.1516-28del) | dbSNP gnomAD v2 |
4 | g.55443924G>A | CA551651898 | CLOCK,TMEM165 | c.1693-28C>T (n.1693-28C>T) c.353-8315G>A n.275-28C>T c.409-8315G>A c.899-8315G>A (n.899-8315G>A) c.1516-28C>T (n.1516-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443924G= | CA1459075345 | CLOCK,TMEM165 | c.1693-28C= (n.1693-28C=) c.353-8315G= n.275-28C= c.409-8315G= c.899-8315G= (n.899-8315G=) c.1516-28C= (n.1516-28C=) | |
4 | g.55443924G>T | CA2925829 | CLOCK,TMEM165 | c.1693-28C>A (n.1693-28C>A) c.353-8315G>T n.275-28C>A c.409-8315G>T c.899-8315G>T (n.899-8315G>T) c.1516-28C>A (n.1516-28C>A) | dbSNP ExAC gnomAD v2 |
4 | g.55443926G>A | CA2670687927 | CLOCK,TMEM165 | c.1693-30C>T (n.1693-30C>T) c.353-8313G>A n.275-30C>T c.409-8313G>A c.899-8313G>A (n.899-8313G>A) c.1516-30C>T (n.1516-30C>T) | gnomAD v4 |
4 | g.55443926G= | CA1459075348 | CLOCK,TMEM165 | c.1693-30C= (n.1693-30C=) c.353-8313G= n.275-30C= c.409-8313G= c.899-8313G= (n.899-8313G=) c.1516-30C= (n.1516-30C=) | |
4 | g.55443926G>T | CA551651900 | CLOCK,TMEM165 | c.1693-30C>A (n.1693-30C>A) c.353-8313G>T n.275-30C>A c.409-8313G>T c.899-8313G>T (n.899-8313G>T) c.1516-30C>A (n.1516-30C>A) | dbSNP gnomAD v2 |
4 | g.55443927C>A | CA2670687928 | CLOCK,TMEM165 | c.1693-31G>T (n.1693-31G>T) c.353-8312C>A n.275-31G>T c.409-8312C>A c.899-8312C>A (n.899-8312C>A) c.1516-31G>T (n.1516-31G>T) | gnomAD v4 |
4 | g.55443927C= | CA1459075349 | CLOCK,TMEM165 | c.1693-31G= (n.1693-31G=) c.353-8312C= n.275-31G= c.409-8312C= c.899-8312C= (n.899-8312C=) c.1516-31G= (n.1516-31G=) | |
4 | g.55443927C>G | CA2670687929 | CLOCK,TMEM165 | c.1693-31G>C (n.1693-31G>C) c.353-8312C>G n.275-31G>C c.409-8312C>G c.899-8312C>G (n.899-8312C>G) c.1516-31G>C (n.1516-31G>C) | gnomAD v4 |
4 | g.55443927C>T | CA2670687930 | CLOCK,TMEM165 | c.1693-31G>A (n.1693-31G>A) c.353-8312C>T n.275-31G>A c.409-8312C>T c.899-8312C>T (n.899-8312C>T) c.1516-31G>A (n.1516-31G>A) | gnomAD v4 |
4 | g.55443927_55443928insA | CA551651901 | CLOCK,TMEM165 | c.1693-32_1693-31insT (n.1693-32_1693-31insT) c.353-8312_353-8311insA n.275-32_275-31insT c.409-8312_409-8311insA c.899-8312_899-8311insA (n.899-8312_899-8311insA) c.1516-32_1516-31insT (n.1516-32_1516-31insT) | dbSNP gnomAD v2 |
4 | g.55443930del | CA2505492412 | CLOCK,TMEM165 | c.1693-32del (n.1693-32del) c.353-8309del n.275-32del c.409-8309del c.899-8309del (n.899-8309del) c.1516-32del (n.1516-32del) | gnomAD v4 |
4 | g.55443929T>C | CA2670687931 | CLOCK,TMEM165 | c.1693-33A>G (n.1693-33A>G) c.353-8310T>C n.275-33A>G c.409-8310T>C c.899-8310T>C (n.899-8310T>C) c.1516-33A>G (n.1516-33A>G) | gnomAD v4 |
4 | g.55443929T>G | CA551651902 | CLOCK,TMEM165 | c.1693-33A>C (n.1693-33A>C) c.353-8310T>G n.275-33A>C c.409-8310T>G c.899-8310T>G (n.899-8310T>G) c.1516-33A>C (n.1516-33A>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55443929T= | CA1459075351 | CLOCK,TMEM165 | c.1693-33A= (n.1693-33A=) c.353-8310T= n.275-33A= c.409-8310T= c.899-8310T= (n.899-8310T=) c.1516-33A= (n.1516-33A=) | |
4 | g.55443931G>A | CA796425239 | CLOCK,TMEM165 | c.1693-35C>T (n.1693-35C>T) c.353-8308G>A n.275-35C>T c.409-8308G>A c.899-8308G>A (n.899-8308G>A) c.1516-35C>T (n.1516-35C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55443931G>C | CA2842058971 | CLOCK,TMEM165 | c.1693-35C>G (n.1693-35C>G) c.353-8308G>C n.275-35C>G c.409-8308G>C c.899-8308G>C (n.899-8308G>C) c.1516-35C>G (n.1516-35C>G) | |
4 | g.55443931G= | CA1459075353 | CLOCK,TMEM165 | c.1693-35C= (n.1693-35C=) c.353-8308G= n.275-35C= c.409-8308G= c.899-8308G= (n.899-8308G=) c.1516-35C= (n.1516-35C=) | |
4 | g.55443932T>A | CA2842058972 | CLOCK,TMEM165 | c.1693-36A>T (n.1693-36A>T) c.353-8307T>A n.275-36A>T c.409-8307T>A c.899-8307T>A (n.899-8307T>A) c.1516-36A>T (n.1516-36A>T) | |
4 | g.55443932T>C | CA2925830 | CLOCK,TMEM165 | c.1693-36A>G (n.1693-36A>G) c.353-8307T>C n.275-36A>G c.409-8307T>C c.899-8307T>C (n.899-8307T>C) c.1516-36A>G (n.1516-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443932T= | CA1459075355 | CLOCK,TMEM165 | c.1693-36A= (n.1693-36A=) c.353-8307T= n.275-36A= c.409-8307T= c.899-8307T= (n.899-8307T=) c.1516-36A= (n.1516-36A=) | |
4 | g.55443932_55443934delinsTAG | CA1459075358 | CLOCK,TMEM165 | c.1693-38_1693-36delinsCTA (n.1693-38_1693-36delinsCTA) c.353-8307_353-8305delinsTAG n.275-38_275-36delinsCTA c.409-8307_409-8305delinsTAG c.899-8307_899-8305delinsTAG (n.899-8307_899-8305delinsTAG) c.1516-38_1516-36delinsCTA (n.1516-38_1516-36delinsCTA) | |
4 | g.55443932_55443939delinsTAGATTGA | CA1459075357 | CLOCK,TMEM165 | c.1693-43_1693-36delinsTCAATCTA (n.1693-43_1693-36delinsTCAATCTA) c.353-8307_353-8300delinsTAGATTGA n.275-43_275-36delinsTCAATCTA c.409-8307_409-8300delinsTAGATTGA c.899-8307_899-8300delinsTAGATTGA (n.899-8307_899-8300delinsTAGATTGA) c.1516-43_1516-36delinsTCAATCTA (n.1516-43_1516-36delinsTCAATCTA) | |
4 | g.55443933A= | CA1459075364 | CLOCK,TMEM165 | c.1693-37T= (n.1693-37T=) c.353-8306A= n.275-37T= c.409-8306A= c.899-8306A= (n.899-8306A=) c.1516-37T= (n.1516-37T=) | |
4 | g.55443933A>G | CA2925831 | CLOCK,TMEM165 | c.1693-37T>C (n.1693-37T>C) c.353-8306A>G n.275-37T>C c.409-8306A>G c.899-8306A>G (n.899-8306A>G) c.1516-37T>C (n.1516-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443934_55443935del | CA1459075366 | CLOCK,TMEM165 | c.1693-38_1693-37del (n.1693-38_1693-37del) c.353-8305_353-8304del n.275-38_275-37del c.409-8305_409-8304del c.899-8305_899-8304del (n.899-8305_899-8304del) c.1516-38_1516-37del (n.1516-38_1516-37del) | dbSNP |
4 | g.55443934_55443940del | CA551651903 | CLOCK,TMEM165 | c.1693-43_1693-37del (n.1693-43_1693-37del) c.353-8305_353-8299del n.275-43_275-37del c.409-8305_409-8299del c.899-8305_899-8299del (n.899-8305_899-8299del) c.1516-43_1516-37del (n.1516-43_1516-37del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.55443934G>A | CA2842058973 | CLOCK,TMEM165 | c.1693-38C>T (n.1693-38C>T) c.353-8305G>A n.275-38C>T c.409-8305G>A c.899-8305G>A (n.899-8305G>A) c.1516-38C>T (n.1516-38C>T) | |
4 | g.55443934G>C | CA2925832 | CLOCK,TMEM165 | c.1693-38C>G (n.1693-38C>G) c.353-8305G>C n.275-38C>G c.409-8305G>C c.899-8305G>C (n.899-8305G>C) c.1516-38C>G (n.1516-38C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.55443934G= | CA1459075370 | CLOCK,TMEM165 | c.1693-38C= (n.1693-38C=) c.353-8305G= n.275-38C= c.409-8305G= c.899-8305G= (n.899-8305G=) c.1516-38C= (n.1516-38C=) | |
4 | g.55443934G>T | CA1062741463 | CLOCK,TMEM165 | c.1693-38C>A (n.1693-38C>A) c.353-8305G>T n.275-38C>A c.409-8305G>T c.899-8305G>T (n.899-8305G>T) c.1516-38C>A (n.1516-38C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.55443938_55443956dup | CA2670687932 | CLOCK,TMEM165 | c.1693-57_1693-39dup (n.1693-57_1693-39dup) c.353-8301_353-8283dup n.275-57_275-39dup c.409-8301_409-8283dup c.899-8301_899-8283dup (n.899-8301_899-8283dup) c.1516-57_1516-39dup (n.1516-57_1516-39dup) | gnomAD v4 |
4 | g.55443936T>C | CA2925833 | CLOCK,TMEM165 | c.1693-40A>G (n.1693-40A>G) c.353-8303T>C n.275-40A>G c.409-8303T>C c.899-8303T>C (n.899-8303T>C) c.1516-40A>G (n.1516-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443936T= | CA1459075372 | CLOCK,TMEM165 | c.1693-40A= (n.1693-40A=) c.353-8303T= n.275-40A= c.409-8303T= c.899-8303T= (n.899-8303T=) c.1516-40A= (n.1516-40A=) | |
4 | g.55443938G>T | CA2578091699 | CLOCK,TMEM165 | c.1693-42C>A (n.1693-42C>A) c.353-8301G>T n.275-42C>A c.409-8301G>T c.899-8301G>T (n.899-8301G>T) c.1516-42C>A (n.1516-42C>A) | gnomAD v4 |