Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
4 | g.55443832G>A | CA356916011 | CLOCK,TMEM165 | c.1757C>T (p.Ser586Leu) c.353-8407G>A n.339C>T c.409-8407G>A c.899-8407G>A (n.899-8407G>A) c.1580C>T (p.Ser527Leu) | |
4 | g.55443832G>C | CA356916018 | CLOCK,TMEM165 | c.1757C>G (p.Ser586Ter) c.353-8407G>C n.339C>G c.409-8407G>C c.899-8407G>C (n.899-8407G>C) c.1580C>G (p.Ser527Ter) | |
4 | g.55443832G>T | CA356916022 | CLOCK,TMEM165 | c.1757C>A (p.Ser586Ter) c.353-8407G>T n.339C>A c.409-8407G>T c.899-8407G>T (n.899-8407G>T) c.1580C>A (p.Ser527Ter) | |
4 | g.55443833A>C | CA356916029 | CLOCK,TMEM165 | c.1756T>G (p.Ser586Ala) c.353-8406A>C n.338T>G c.409-8406A>C c.899-8406A>C (n.899-8406A>C) c.1579T>G (p.Ser527Ala) | |
4 | g.55443833A>G | CA356916027 | CLOCK,TMEM165 | c.1756T>C (p.Ser586Pro) c.353-8406A>G n.338T>C c.409-8406A>G c.899-8406A>G (n.899-8406A>G) c.1579T>C (p.Ser527Pro) | |
4 | g.55443833A>T | CA356916028 | CLOCK,TMEM165 | c.1756T>A (p.Ser586Thr) c.353-8406A>T n.338T>A c.409-8406A>T c.899-8406A>T (n.899-8406A>T) c.1579T>A (p.Ser527Thr) | |
4 | g.55443834A>C | CA356916030 | CLOCK,TMEM165 | c.1755T>G (p.Asn585Lys) c.353-8405A>C n.337T>G c.409-8405A>C c.899-8405A>C (n.899-8405A>C) c.1578T>G (p.Asn526Lys) | |
4 | g.55443834A>G | CA439485258 | CLOCK,TMEM165 | c.1755T>C (p.Asn585=) c.353-8405A>G n.337T>C c.409-8405A>G c.899-8405A>G (n.899-8405A>G) c.1578T>C (p.Asn526=) | |
4 | g.55443834A>T | CA356916033 | CLOCK,TMEM165 | c.1755T>A (p.Asn585Lys) c.353-8405A>T n.337T>A c.409-8405A>T c.899-8405A>T (n.899-8405A>T) c.1578T>A (p.Asn526Lys) | |
4 | g.55443835T>A | CA356916037 | CLOCK,TMEM165 | c.1754A>T (p.Asn585Ile) c.353-8404T>A n.336A>T c.409-8404T>A c.899-8404T>A (n.899-8404T>A) c.1577A>T (p.Asn526Ile) | |
4 | g.55443835T>C | CA356916038 | CLOCK,TMEM165 | c.1754A>G (p.Asn585Ser) c.353-8404T>C n.336A>G c.409-8404T>C c.899-8404T>C (n.899-8404T>C) c.1577A>G (p.Asn526Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.55443835T>G | CA356916039 | CLOCK,TMEM165 | c.1754A>C (p.Asn585Thr) c.353-8404T>G n.336A>C c.409-8404T>G c.899-8404T>G (n.899-8404T>G) c.1577A>C (p.Asn526Thr) | |
4 | g.55443835T= | CA1459075248 | CLOCK,TMEM165 | c.1754A= (p.Asn585=) c.353-8404T= n.336A= c.409-8404T= c.899-8404T= (n.899-8404T=) c.1577A= (p.Asn526=) | |
4 | g.55443836T>A | CA356916044 | CLOCK,TMEM165 | c.1753A>T (p.Asn585Tyr) c.353-8403T>A n.335A>T c.409-8403T>A c.899-8403T>A (n.899-8403T>A) c.1576A>T (p.Asn526Tyr) | |
4 | g.55443836T>C | CA356916040 | CLOCK,TMEM165 | c.1753A>G (p.Asn585Asp) c.353-8403T>C n.335A>G c.409-8403T>C c.899-8403T>C (n.899-8403T>C) c.1576A>G (p.Asn526Asp) | |
4 | g.55443836T>G | CA356916042 | CLOCK,TMEM165 | c.1753A>C (p.Asn585His) c.353-8403T>G n.335A>C c.409-8403T>G c.899-8403T>G (n.899-8403T>G) c.1576A>C (p.Asn526His) | |
4 | g.55443837T>A | CA439485261 | CLOCK,TMEM165 | c.1752A>T (p.Gly584=) c.353-8402T>A n.334A>T c.409-8402T>A c.899-8402T>A (n.899-8402T>A) c.1575A>T (p.Gly525=) | |
4 | g.55443837T>C | CA439485263 | CLOCK,TMEM165 | c.1752A>G (p.Gly584=) c.353-8402T>C n.334A>G c.409-8402T>C c.899-8402T>C (n.899-8402T>C) c.1575A>G (p.Gly525=) | |
4 | g.55443837T>G | CA439485262 | CLOCK,TMEM165 | c.1752A>C (p.Gly584=) c.353-8402T>G n.334A>C c.409-8402T>G c.899-8402T>G (n.899-8402T>G) c.1575A>C (p.Gly525=) | |
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=) |