Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604471_18604478delCA2695231329CDKL5c.1547_1554del (p.Tyr516PhefsTer2)
c.1496_1503del (p.Tyr499PhefsTer2)
c.1415_1422del (p.Tyr472PhefsTer2)
n.1799_1806del
Xg.18604472C>ACA412361523CDKL5c.1548C>A (p.Tyr516Ter)
c.1497C>A (p.Tyr499Ter)
c.1416C>A (p.Tyr472Ter)
n.1800C>A
 ClinVar dbSNP
Xg.18604472C=CA2417974418CDKL5c.1548C= (p.Tyr516=)
c.1497C= (p.Tyr499=)
c.1416C= (p.Tyr472=)
n.1800C=
Xg.18604472C>GCA412361525CDKL5c.1548C>G (p.Tyr516Ter)
c.1497C>G (p.Tyr499Ter)
c.1416C>G (p.Tyr472Ter)
n.1800C>G
Xg.18604472C>TCA10360392CDKL5c.1548C>T (p.Tyr516=)
c.1497C>T (p.Tyr499=)
c.1416C>T (p.Tyr472=)
n.1800C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604472_18604473delinsCTCA2417974419CDKL5c.1548_1549delinsCT (p.Tyr516=)
c.1497_1498delinsCT (p.Tyr499=)
c.1416_1417delinsCT (p.Tyr472=)
n.1800_1801delinsCT
Xg.18604473T>ACA412361534CDKL5c.1549T>A (p.Phe517Ile)
c.1498T>A (p.Phe500Ile)
c.1417T>A (p.Phe473Ile)
n.1801T>A
Xg.18604473T>CCA412361536CDKL5c.1549T>C (p.Phe517Leu)
c.1498T>C (p.Phe500Leu)
c.1417T>C (p.Phe473Leu)
n.1801T>C
Xg.18604473T>GCA412361539CDKL5c.1549T>G (p.Phe517Val)
c.1498T>G (p.Phe500Val)
c.1417T>G (p.Phe473Val)
n.1801T>G
Xg.18604474delCA199381CDKL5c.1550del (p.Phe517SerfsTer6)
c.1499del (p.Phe500SerfsTer6)
c.1418del (p.Phe473SerfsTer6)
n.1802del
 ClinVar dbSNP
Xg.18604474T>ACA412361548CDKL5c.1550T>A (p.Phe517Tyr)
c.1499T>A (p.Phe500Tyr)
c.1418T>A (p.Phe473Tyr)
n.1802T>A
Xg.18604474T>CCA412361546CDKL5c.1550T>C (p.Phe517Ser)
c.1499T>C (p.Phe500Ser)
c.1418T>C (p.Phe473Ser)
n.1802T>C
Xg.18604474T>GCA412361544CDKL5c.1550T>G (p.Phe517Cys)
c.1499T>G (p.Phe500Cys)
c.1418T>G (p.Phe473Cys)
n.1802T>G
Xg.18604474_18604475delinsTCCA2417974420CDKL5c.1550_1551delinsTC (p.Phe517=)
c.1499_1500delinsTC (p.Phe500=)
c.1418_1419delinsTC (p.Phe473=)
n.1802_1803delinsTC
Xg.18604475C>ACA412361551CDKL5c.1551C>A (p.Phe517Leu)
c.1500C>A (p.Phe500Leu)
c.1419C>A (p.Phe473Leu)
n.1803C>A
Xg.18604475C>GCA412361554CDKL5c.1551C>G (p.Phe517Leu)
c.1500C>G (p.Phe500Leu)
c.1419C>G (p.Phe473Leu)
n.1803C>G
Xg.18604475C>TCA515628286CDKL5c.1551C>T (p.Phe517=)
c.1500C>T (p.Phe500=)
c.1419C>T (p.Phe473=)
n.1803C>T
Xg.18604477delCA10604833CDKL5c.1553del (p.Pro518HisfsTer5)
c.1502del (p.Pro501HisfsTer5)
c.1421del (p.Pro474HisfsTer5)
n.1805del
 ClinVar dbSNP
Xg.18604476C>ACA412361558CDKL5c.1552C>A (p.Pro518Thr)
c.1501C>A (p.Pro501Thr)
c.1420C>A (p.Pro474Thr)
n.1804C>A
Xg.18604476C>GCA412361560CDKL5c.1552C>G (p.Pro518Ala)
c.1501C>G (p.Pro501Ala)
c.1420C>G (p.Pro474Ala)
n.1804C>G
Xg.18604476C>TCA412361565CDKL5c.1552C>T (p.Pro518Ser)
c.1501C>T (p.Pro501Ser)
c.1420C>T (p.Pro474Ser)
n.1804C>T
 ClinVar
Xg.18604477C>ACA412361569CDKL5c.1553C>A (p.Pro518Gln)
c.1502C>A (p.Pro501Gln)
c.1421C>A (p.Pro474Gln)
n.1805C>A
Xg.18604477C>GCA412361588CDKL5c.1553C>G (p.Pro518Arg)
c.1502C>G (p.Pro501Arg)
c.1421C>G (p.Pro474Arg)
n.1805C>G
Xg.18604477C>TCA412361585CDKL5c.1553C>T (p.Pro518Leu)
c.1502C>T (p.Pro501Leu)
c.1421C>T (p.Pro474Leu)
n.1805C>T
 COSMIC
Xg.18604478A=CA2417974421CDKL5c.1554A= (p.Pro518=)
c.1503A= (p.Pro501=)
c.1422A= (p.Pro474=)
n.1806A=
Xg.18604478A>CCA515628300CDKL5c.1554A>C (p.Pro518=)
c.1503A>C (p.Pro501=)
c.1422A>C (p.Pro474=)
n.1806A>C
Xg.18604478A>GCA10360393CDKL5c.1554A>G (p.Pro518=)
c.1503A>G (p.Pro501=)
c.1422A>G (p.Pro474=)
n.1806A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604478A>TCA515628306CDKL5c.1554A>T (p.Pro518=)
c.1503A>T (p.Pro501=)
c.1422A>T (p.Pro474=)
n.1806A>T
Xg.18604479T>ACA412361591CDKL5c.1555T>A (p.Ser519Thr)
c.1504T>A (p.Ser502Thr)
c.1423T>A (p.Ser475Thr)
n.1807T>A
Xg.18604479T>CCA412361594CDKL5c.1555T>C (p.Ser519Pro)
c.1504T>C (p.Ser502Pro)
c.1423T>C (p.Ser475Pro)
n.1807T>C
 ClinVar
Xg.18604479T>GCA412361597CDKL5c.1555T>G (p.Ser519Ala)
c.1504T>G (p.Ser502Ala)
c.1423T>G (p.Ser475Ala)
n.1807T>G
Xg.18604480C>ACA412361599CDKL5c.1556C>A (p.Ser519Tyr)
c.1505C>A (p.Ser502Tyr)
c.1424C>A (p.Ser475Tyr)
n.1808C>A
Xg.18604480C>GCA412361602CDKL5c.1556C>G (p.Ser519Cys)
c.1505C>G (p.Ser502Cys)
c.1424C>G (p.Ser475Cys)
n.1808C>G
 gnomAD v4
Xg.18604480C>TCA412361605CDKL5c.1556C>T (p.Ser519Phe)
c.1505C>T (p.Ser502Phe)
c.1424C>T (p.Ser475Phe)
n.1808C>T
Xg.18604481T>ACA515628311CDKL5c.1557T>A (p.Ser519=)
c.1506T>A (p.Ser502=)
c.1425T>A (p.Ser475=)
n.1809T>A
Xg.18604481T>CCA515628319CDKL5c.1557T>C (p.Ser519=)
c.1506T>C (p.Ser502=)
c.1425T>C (p.Ser475=)
n.1809T>C
Xg.18604481T>GCA515628315CDKL5c.1557T>G (p.Ser519=)
c.1506T>G (p.Ser502=)
c.1425T>G (p.Ser475=)
n.1809T>G
Xg.18604482A>CCA412361610CDKL5c.1558A>C (p.Ser520Arg)
c.1507A>C (p.Ser503Arg)
c.1426A>C (p.Ser476Arg)
n.1810A>C
Xg.18604482A>GCA412361613CDKL5c.1558A>G (p.Ser520Gly)
c.1507A>G (p.Ser503Gly)
c.1426A>G (p.Ser476Gly)
n.1810A>G
Xg.18604482A>TCA412361616CDKL5c.1558A>T (p.Ser520Cys)
c.1507A>T (p.Ser503Cys)
c.1426A>T (p.Ser476Cys)
n.1810A>T
Xg.18604483G>ACA412361620CDKL5c.1559G>A (p.Ser520Asn)
c.1508G>A (p.Ser503Asn)
c.1427G>A (p.Ser476Asn)
n.1811G>A
 dbSNP
Xg.18604483G>CCA412361623CDKL5c.1559G>C (p.Ser520Thr)
c.1508G>C (p.Ser503Thr)
c.1427G>C (p.Ser476Thr)
n.1811G>C
Xg.18604483G=CA2417974422CDKL5c.1559G= (p.Ser520=)
c.1508G= (p.Ser503=)
c.1427G= (p.Ser476=)
n.1811G=
Xg.18604483G>TCA412361621CDKL5c.1559G>T (p.Ser520Ile)
c.1508G>T (p.Ser503Ile)
c.1427G>T (p.Ser476Ile)
n.1811G>T
Xg.18604484C>ACA412361625CDKL5c.1560C>A (p.Ser520Arg)
c.1509C>A (p.Ser503Arg)
c.1428C>A (p.Ser476Arg)
n.1812C>A
Xg.18604484C>GCA412361626CDKL5c.1560C>G (p.Ser520Arg)
c.1509C>G (p.Ser503Arg)
c.1428C>G (p.Ser476Arg)
n.1812C>G
Xg.18604484C>TCA515628334CDKL5c.1560C>T (p.Ser520=)
c.1509C>T (p.Ser503=)
c.1428C>T (p.Ser476=)
n.1812C>T
Xg.18604485T>ACA412361629CDKL5c.1561T>A (p.Cys521Ser)
c.1510T>A (p.Cys504Ser)
c.1429T>A (p.Cys477Ser)
n.1813T>A
Xg.18604485T>CCA412361631CDKL5c.1561T>C (p.Cys521Arg)
c.1510T>C (p.Cys504Arg)
c.1429T>C (p.Cys477Arg)
n.1813T>C
Xg.18604485T>GCA412361633CDKL5c.1561T>G (p.Cys521Gly)
c.1510T>G (p.Cys504Gly)
c.1429T>G (p.Cys477Gly)
n.1813T>G

Number of alleles fetched