OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15187273G>A | CA9263584 | NOTCH3 | c.1672C>T (p.Arg558Cys) c.1669C>T (p.Arg557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187273G>C | CA9263583 | NOTCH3 | c.1672C>G (p.Arg558Gly) c.1669C>G (p.Arg557Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187273G= | CA2324747695 | NOTCH3 | c.1672C= (p.Arg558=) c.1669C= (p.Arg557=) | |
| 19 | g.15187273G>T | CA305774976 | NOTCH3 | c.1672C>A (p.Arg558Ser) c.1669C>A (p.Arg557Ser) | dbSNP |
| 19 | g.15187274A= | CA2324747696 | NOTCH3 | c.1671T= (p.Gly557=) c.1668T= (p.Gly556=) | |
| 19 | g.15187274A>C | CA505827331 | NOTCH3 | c.1671T>G (p.Gly557=) c.1668T>G (p.Gly556=) | |
| 19 | g.15187274A>G | CA505827333 | NOTCH3 | c.1671T>C (p.Gly557=) c.1668T>C (p.Gly556=) | |
| 19 | g.15187274A>T | CA505827332 | NOTCH3 | c.1671T>A (p.Gly557=) c.1668T>A (p.Gly556=) | dbSNP |
| 19 | g.15187275C>A | CA404525942 | NOTCH3 | c.1670G>T (p.Gly557Val) c.1667G>T (p.Gly556Val) | |
| 19 | g.15187275C>G | CA404525941 | NOTCH3 | c.1670G>C (p.Gly557Ala) c.1667G>C (p.Gly556Ala) | |
| 19 | g.15187275C>T | CA404525939 | NOTCH3 | c.1670G>A (p.Gly557Asp) c.1667G>A (p.Gly556Asp) | |
| 19 | g.15187276C>A | CA404525944 | NOTCH3 | c.1669G>T (p.Gly557Cys) c.1666G>T (p.Gly556Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.15187276C= | CA2324747697 | NOTCH3 | c.1669G= (p.Gly557=) c.1666G= (p.Gly556=) | |
| 19 | g.15187276C>G | CA404525946 | NOTCH3 | c.1669G>C (p.Gly557Arg) c.1666G>C (p.Gly556Arg) | |
| 19 | g.15187276C>T | CA404525948 | NOTCH3 | c.1669G>A (p.Gly557Ser) c.1666G>A (p.Gly556Ser) | |
| 19 | g.15187277A>C | CA404525949 | NOTCH3 | c.1668T>G (p.His556Gln) c.1665T>G (p.His555Gln) | |
| 19 | g.15187277A>G | CA505827334 | NOTCH3 | c.1668T>C (p.His556=) c.1665T>C (p.His555=) | |
| 19 | g.15187277A>T | CA404525950 | NOTCH3 | c.1668T>A (p.His556Gln) c.1665T>A (p.His555Gln) | |
| 19 | g.15187278T>A | CA404525951 | NOTCH3 | c.1667A>T (p.His556Leu) c.1664A>T (p.His555Leu) | |
| 19 | g.15187278T>C | CA9263585 | NOTCH3 | c.1667A>G (p.His556Arg) c.1664A>G (p.His555Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187278T>G | CA404525952 | NOTCH3 | c.1667A>C (p.His556Pro) c.1664A>C (p.His555Pro) | |
| 19 | g.15187278T= | CA2324747698 | NOTCH3 | c.1667A= (p.His556=) c.1664A= (p.His555=) | |
| 19 | g.15187279G>A | CA404525954 | NOTCH3 | c.1666C>T (p.His556Tyr) c.1663C>T (p.His555Tyr) | dbSNP gnomAD v4 |
| 19 | g.15187279G>C | CA404525955 | NOTCH3 | c.1666C>G (p.His556Asp) c.1663C>G (p.His555Asp) | |
| 19 | g.15187279G= | CA2324747699 | NOTCH3 | c.1666C= (p.His556=) c.1663C= (p.His555=) | |
| 19 | g.15187279G>T | CA404525957 | NOTCH3 | c.1666C>A (p.His556Asn) c.1663C>A (p.His555Asn) | |
| 19 | g.15187280G>A | CA505827335 | NOTCH3 | c.1665C>T (p.His555=) c.1662C>T (p.His554=) | |
| 19 | g.15187280G>C | CA404525958 | NOTCH3 | c.1665C>G (p.His555Gln) c.1662C>G (p.His554Gln) | |
| 19 | g.15187280G= | CA2324747700 | NOTCH3 | c.1665C= (p.His555=) c.1662C= (p.His554=) | |
| 19 | g.15187280G>T | CA9263586 | NOTCH3 | c.1665C>A (p.His555Gln) c.1662C>A (p.His554Gln) | dbSNP ExAC gnomAD v2 |
| 19 | g.15187281T>A | CA404525965 | NOTCH3 | c.1664A>T (p.His555Leu) c.1661A>T (p.His554Leu) | |
| 19 | g.15187281T>C | CA404525961 | NOTCH3 | c.1664A>G (p.His555Arg) c.1661A>G (p.His554Arg) | |
| 19 | g.15187281T>G | CA404525963 | NOTCH3 | c.1664A>C (p.His555Pro) c.1661A>C (p.His554Pro) | |
| 19 | g.15187282G>A | CA404525966 | NOTCH3 | c.1663C>T (p.His555Tyr) c.1660C>T (p.His554Tyr) | dbSNP |
| 19 | g.15187282G>C | CA404525968 | NOTCH3 | c.1663C>G (p.His555Asp) c.1660C>G (p.His554Asp) | |
| 19 | g.15187282G= | CA2324747701 | NOTCH3 | c.1663C= (p.His555=) c.1660C= (p.His554=) | |
| 19 | g.15187282G>T | CA404525970 | NOTCH3 | c.1663C>A (p.His555Asn) c.1660C>A (p.His554Asn) | |
| 19 | g.15187283G>A | CA9263587 | NOTCH3 | c.1662C>T (p.Cys554=) c.1659C>T (p.Cys553=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.15187283G>C | CA404525972 | NOTCH3 | c.1662C>G (p.Cys554Trp) c.1659C>G (p.Cys553Trp) | |
| 19 | g.15187283G= | CA2324747702 | NOTCH3 | c.1662C= (p.Cys554=) c.1659C= (p.Cys553=) | |
| 19 | g.15187283G>T | CA404525974 | NOTCH3 | c.1662C>A (p.Cys554Ter) c.1659C>A (p.Cys553Ter) | |
| 19 | g.15187284C>A | CA404525976 | NOTCH3 | c.1661G>T (p.Cys554Phe) c.1658G>T (p.Cys553Phe) | gnomAD v4 |
| 19 | g.15187284C>G | CA404525977 | NOTCH3 | c.1661G>C (p.Cys554Ser) c.1658G>C (p.Cys553Ser) | |
| 19 | g.15187284C>T | CA404525978 | NOTCH3 | c.1661G>A (p.Cys554Tyr) c.1658G>A (p.Cys553Tyr) | dbSNP |
| 19 | g.15187285A>C | CA404525981 | NOTCH3 | c.1660T>G (p.Cys554Gly) c.1657T>G (p.Cys553Gly) | |
| 19 | g.15187285A>G | CA404525982 | NOTCH3 | c.1660T>C (p.Cys554Arg) c.1657T>C (p.Cys553Arg) | |
| 19 | g.15187285A>T | CA404525984 | NOTCH3 | c.1660T>A (p.Cys554Ser) c.1657T>A (p.Cys553Ser) | |
| 19 | g.15187286T>A | CA505827336 | NOTCH3 | c.1659A>T (p.Pro553=) c.1656A>T (p.Pro552=) | |
| 19 | g.15187286T>C | CA9263588 | NOTCH3 | c.1659A>G (p.Pro553=) c.1656A>G (p.Pro552=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187286T>G | CA505827337 | NOTCH3 | c.1659A>C (p.Pro553=) c.1656A>C (p.Pro552=) | |
| 19 | g.15187286T= | CA2324747703 | NOTCH3 | c.1659A= (p.Pro553=) c.1656A= (p.Pro552=) | |
| 19 | g.15187287G>A | CA404525987 | NOTCH3 | c.1658C>T (p.Pro553Leu) c.1655C>T (p.Pro552Leu) | gnomAD v4 |
| 19 | g.15187287G>C | CA404525985 | NOTCH3 | c.1658C>G (p.Pro553Arg) c.1655C>G (p.Pro552Arg) | |
| 19 | g.15187287G>T | CA404525988 | NOTCH3 | c.1658C>A (p.Pro553Gln) c.1655C>A (p.Pro552Gln) | |
| 19 | g.15187288G>A | CA404525989 | NOTCH3 | c.1657C>T (p.Pro553Ser) c.1654C>T (p.Pro552Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187288G>C | CA404525992 | NOTCH3 | c.1657C>G (p.Pro553Ala) c.1654C>G (p.Pro552Ala) | |
| 19 | g.15187288G= | CA2324747704 | NOTCH3 | c.1657C= (p.Pro553=) c.1654C= (p.Pro552=) | |
| 19 | g.15187288G>T | CA404525990 | NOTCH3 | c.1657C>A (p.Pro553Thr) c.1654C>A (p.Pro552Thr) | dbSNP |
| 19 | g.15187289G>A | CA505827338 | NOTCH3 | c.1656C>T (p.Asp552=) c.1653C>T (p.Asp551=) | dbSNP gnomAD v2 |
| 19 | g.15187289G>C | CA404525994 | NOTCH3 | c.1656C>G (p.Asp552Glu) c.1653C>G (p.Asp551Glu) | |
| 19 | g.15187289G= | CA2324747705 | NOTCH3 | c.1656C= (p.Asp552=) c.1653C= (p.Asp551=) | |
| 19 | g.15187289G>T | CA404525995 | NOTCH3 | c.1656C>A (p.Asp552Glu) c.1653C>A (p.Asp551Glu) | |
| 19 | g.15187290T>A | CA404525997 | NOTCH3 | c.1655A>T (p.Asp552Val) c.1652A>T (p.Asp551Val) | dbSNP |
| 19 | g.15187290T>C | CA305774991 | NOTCH3 | c.1655A>G (p.Asp552Gly) c.1652A>G (p.Asp551Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187290T>G | CA404525999 | NOTCH3 | c.1655A>C (p.Asp552Ala) c.1652A>C (p.Asp551Ala) | dbSNP |
| 19 | g.15187290T= | CA2324747706 | NOTCH3 | c.1655A= (p.Asp552=) c.1652A= (p.Asp551=) | |
| 19 | g.15187291C>A | CA404526001 | NOTCH3 | c.1654G>T (p.Asp552Tyr) c.1651G>T (p.Asp551Tyr) | gnomAD v4 |
| 19 | g.15187291C>G | CA404526002 | NOTCH3 | c.1654G>C (p.Asp552His) c.1651G>C (p.Asp551His) | |
| 19 | g.15187291C>T | CA404526004 | NOTCH3 | c.1654G>A (p.Asp552Asn) c.1651G>A (p.Asp551Asn) | |
| 19 | g.15187291_15187292delinsCA | CA2324747707 | NOTCH3 | c.1653_1654delinsTG (p.Pro551=) c.1650_1651delinsTG (p.Pro550=) | |
| 19 | g.15187292del | CA631945094 | NOTCH3 | c.1653del (p.Asp552ThrfsTer?) c.1650del (p.Asp551ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187292A>C | CA505827339 | NOTCH3 | c.1653T>G (p.Pro551=) c.1650T>G (p.Pro550=) | |
| 19 | g.15187292A>G | CA505827340 | NOTCH3 | c.1653T>C (p.Pro551=) c.1650T>C (p.Pro550=) | dbSNP |
| 19 | g.15187292A>T | CA505827341 | NOTCH3 | c.1653T>A (p.Pro551=) c.1650T>A (p.Pro550=) | |
| 19 | g.15187293G>A | CA404526006 | NOTCH3 | c.1652C>T (p.Pro551Leu) c.1649C>T (p.Pro550Leu) | |
| 19 | g.15187293G>C | CA404526008 | NOTCH3 | c.1652C>G (p.Pro551Arg) c.1649C>G (p.Pro550Arg) | |
| 19 | g.15187293G>T | CA404526009 | NOTCH3 | c.1652C>A (p.Pro551His) c.1649C>A (p.Pro550His) | |
| 19 | g.15187294G>A | CA9263589 | NOTCH3 | c.1651C>T (p.Pro551Ser) c.1648C>T (p.Pro550Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187294G>C | CA404526013 | NOTCH3 | c.1651C>G (p.Pro551Ala) c.1648C>G (p.Pro550Ala) | |
| 19 | g.15187294G= | CA2324747708 | NOTCH3 | c.1651C= (p.Pro551=) c.1648C= (p.Pro550=) | |
| 19 | g.15187294G>T | CA404526011 | NOTCH3 | c.1651C>A (p.Pro551Thr) c.1648C>A (p.Pro550Thr) | |
| 19 | g.15187295G>A | CA305775005 | NOTCH3 | c.1650C>T (p.Ser550=) c.1647C>T (p.Ser549=) | dbSNP gnomAD v4 |
| 19 | g.15187295G>C | CA505827342 | NOTCH3 | c.1650C>G (p.Ser550=) c.1647C>G (p.Ser549=) | |
| 19 | g.15187295G= | CA2324747709 | NOTCH3 | c.1650C= (p.Ser550=) c.1647C= (p.Ser549=) | |
| 19 | g.15187295G>T | CA505827343 | NOTCH3 | c.1650C>A (p.Ser550=) c.1647C>A (p.Ser549=) | |
| 19 | g.15187296G>A | CA404526015 | NOTCH3 | c.1649C>T (p.Ser550Phe) c.1646C>T (p.Ser549Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187296G>C | CA404526016 | NOTCH3 | c.1649C>G (p.Ser550Cys) c.1646C>G (p.Ser549Cys) | |
| 19 | g.15187296G= | CA2324747710 | NOTCH3 | c.1649C= (p.Ser550=) c.1646C= (p.Ser549=) | |
| 19 | g.15187296G>T | CA404526018 | NOTCH3 | c.1649C>A (p.Ser550Tyr) c.1646C>A (p.Ser549Tyr) | |
| 19 | g.15187297A>C | CA404526019 | NOTCH3 | c.1648T>G (p.Ser550Ala) c.1645T>G (p.Ser549Ala) | |
| 19 | g.15187297A>G | CA404526021 | NOTCH3 | c.1648T>C (p.Ser550Pro) c.1645T>C (p.Ser549Pro) | |
| 19 | g.15187297A>T | CA404526023 | NOTCH3 | c.1648T>A (p.Ser550Thr) c.1645T>A (p.Ser549Thr) | |
| 19 | g.15187298G>A | CA505827344 | NOTCH3 | c.1647C>T (p.Cys549=) c.1644C>T (p.Cys548=) | |
| 19 | g.15187298G>C | CA404526024 | NOTCH3 | c.1647C>G (p.Cys549Trp) c.1644C>G (p.Cys548Trp) | |
| 19 | g.15187298G>T | CA404526026 | NOTCH3 | c.1647C>A (p.Cys549Ter) c.1644C>A (p.Cys548Ter) | |
| 19 | g.15187299C>A | CA404526028 | NOTCH3 | c.1646G>T (p.Cys549Phe) c.1643G>T (p.Cys548Phe) | dbSNP |
| 19 | g.15187299C= | CA2324747711 | NOTCH3 | c.1646G= (p.Cys549=) c.1643G= (p.Cys548=) | |
| 19 | g.15187299C>G | CA404526029 | NOTCH3 | c.1646G>C (p.Cys549Ser) c.1643G>C (p.Cys548Ser) | ClinVar |
| 19 | g.15187299C>T | CA404526030 | NOTCH3 | c.1646G>A (p.Cys549Tyr) c.1643G>A (p.Cys548Tyr) | ClinVar dbSNP |
| 19 | g.15187300A>C | CA404526035 | NOTCH3 | c.1645T>G (p.Cys549Gly) c.1642T>G (p.Cys548Gly) | |
| 19 | g.15187300A>G | CA404526033 | NOTCH3 | c.1645T>C (p.Cys549Arg) c.1642T>C (p.Cys548Arg) | |
| 19 | g.15187300A>T | CA404526031 | NOTCH3 | c.1645T>A (p.Cys549Ser) c.1642T>A (p.Cys548Ser) | |
| 19 | g.15187301G>A | CA505827345 | NOTCH3 | c.1644C>T (p.Asp548=) c.1641C>T (p.Asp547=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187301G>C | CA404526036 | NOTCH3 | c.1644C>G (p.Asp548Glu) c.1641C>G (p.Asp547Glu) | dbSNP |
| 19 | g.15187301G= | CA2324747712 | NOTCH3 | c.1644C= (p.Asp548=) c.1641C= (p.Asp547=) | |
| 19 | g.15187301G>T | CA404526037 | NOTCH3 | c.1644C>A (p.Asp548Glu) c.1641C>A (p.Asp547Glu) | |
| 19 | g.15187302T>A | CA404526038 | NOTCH3 | c.1643A>T (p.Asp548Val) c.1640A>T (p.Asp547Val) | |
| 19 | g.15187302T>C | CA404526039 | NOTCH3 | c.1643A>G (p.Asp548Gly) c.1640A>G (p.Asp547Gly) | |
| 19 | g.15187302T>G | CA404526040 | NOTCH3 | c.1643A>C (p.Asp548Ala) c.1640A>C (p.Asp547Ala) | |
| 19 | g.15187303C>A | CA404526041 | NOTCH3 | c.1642G>T (p.Asp548Tyr) c.1639G>T (p.Asp547Tyr) | |
| 19 | g.15187303C= | CA2324747713 | NOTCH3 | c.1642G= (p.Asp548=) c.1639G= (p.Asp547=) | |
| 19 | g.15187303C>G | CA404526042 | NOTCH3 | c.1642G>C (p.Asp548His) c.1639G>C (p.Asp547His) | dbSNP |
| 19 | g.15187303C>T | CA305775009 | NOTCH3 | c.1642G>A (p.Asp548Asn) c.1639G>A (p.Asp547Asn) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.15187304G>A | CA9263590 | NOTCH3 | c.1641C>T (p.Asp547=) c.1638C>T (p.Asp546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187304G>C | CA404526045 | NOTCH3 | c.1641C>G (p.Asp547Glu) c.1638C>G (p.Asp546Glu) | gnomAD v4 |
| 19 | g.15187304G= | CA2324747714 | NOTCH3 | c.1641C= (p.Asp547=) c.1638C= (p.Asp546=) | |
| 19 | g.15187304G>T | CA404526047 | NOTCH3 | c.1641C>A (p.Asp547Glu) c.1638C>A (p.Asp546Glu) | gnomAD v4 |
| 19 | g.15187305T>A | CA404526052 | NOTCH3 | c.1640A>T (p.Asp547Val) c.1637A>T (p.Asp546Val) | |
| 19 | g.15187305T>C | CA404526051 | NOTCH3 | c.1640A>G (p.Asp547Gly) c.1637A>G (p.Asp546Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187305T>G | CA404526049 | NOTCH3 | c.1640A>C (p.Asp547Ala) c.1637A>C (p.Asp546Ala) | |
| 19 | g.15187305T= | CA2324747715 | NOTCH3 | c.1640A= (p.Asp547=) c.1637A= (p.Asp546=) | |
| 19 | g.15187306C>A | CA404526053 | NOTCH3 | c.1639G>T (p.Asp547Tyr) c.1636G>T (p.Asp546Tyr) | dbSNP gnomAD v4 |
| 19 | g.15187306C>G | CA404526055 | NOTCH3 | c.1639G>C (p.Asp547His) c.1636G>C (p.Asp546His) | dbSNP |
| 19 | g.15187306C>T | CA404526057 | NOTCH3 | c.1639G>A (p.Asp547Asn) c.1636G>A (p.Asp546Asn) | |
| 19 | g.15187307C>A | CA505827346 | NOTCH3 | c.1638G>T (p.Val546=) c.1635G>T (p.Val545=) | |
| 19 | g.15187307C= | CA2324747716 | NOTCH3 | c.1638G= (p.Val546=) c.1635G= (p.Val545=) | |
| 19 | g.15187307C>G | CA505827347 | NOTCH3 | c.1638G>C (p.Val546=) c.1635G>C (p.Val545=) | |
| 19 | g.15187307C>T | CA9263591 | NOTCH3 | c.1638G>A (p.Val546=) c.1635G>A (p.Val545=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187308A= | CA2324747717 | NOTCH3 | c.1637T= (p.Val546=) c.1634T= (p.Val545=) | |
| 19 | g.15187308A>C | CA404526059 | NOTCH3 | c.1637T>G (p.Val546Gly) c.1634T>G (p.Val545Gly) | |
| 19 | g.15187308A>G | CA404526060 | NOTCH3 | c.1637T>C (p.Val546Ala) c.1634T>C (p.Val545Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187308A>T | CA404526062 | NOTCH3 | c.1637T>A (p.Val546Glu) c.1634T>A (p.Val545Glu) | |
| 19 | g.15187309C>A | CA404526064 | NOTCH3 | c.1636G>T (p.Val546Leu) c.1633G>T (p.Val545Leu) | |
| 19 | g.15187309C= | CA2324747718 | NOTCH3 | c.1636G= (p.Val546=) c.1633G= (p.Val545=) | |
| 19 | g.15187309C>G | CA404526065 | NOTCH3 | c.1636G>C (p.Val546Leu) c.1633G>C (p.Val545Leu) | |
| 19 | g.15187309C>T | CA9263592 | NOTCH3 | c.1636G>A (p.Val546Met) c.1633G>A (p.Val545Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187310G>A | CA9263593 | NOTCH3 | c.1635C>T (p.Asn545=) c.1632C>T (p.Asn544=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187310G>C | CA404526068 | NOTCH3 | c.1635C>G (p.Asn545Lys) c.1632C>G (p.Asn544Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187310G= | CA2324747719 | NOTCH3 | c.1635C= (p.Asn545=) c.1632C= (p.Asn544=) | |
| 19 | g.15187310G>T | CA404526069 | NOTCH3 | c.1635C>A (p.Asn545Lys) c.1632C>A (p.Asn544Lys) | |
| 19 | g.15187311T>A | CA305775011 | NOTCH3 | c.1634A>T (p.Asn545Ile) c.1631A>T (p.Asn544Ile) | dbSNP gnomAD v4 |
| 19 | g.15187311T>C | CA404526073 | NOTCH3 | c.1634A>G (p.Asn545Ser) c.1631A>G (p.Asn544Ser) | dbSNP |
| 19 | g.15187311T>G | CA404526071 | NOTCH3 | c.1634A>C (p.Asn545Thr) c.1631A>C (p.Asn544Thr) | |
| 19 | g.15187311T= | CA2324747720 | NOTCH3 | c.1634A= (p.Asn545=) c.1631A= (p.Asn544=) | |
| 19 | g.15187312T>A | CA404526077 | NOTCH3 | c.1633A>T (p.Asn545Tyr) c.1630A>T (p.Asn544Tyr) | gnomAD v4 |
| 19 | g.15187312T>C | CA404526074 | NOTCH3 | c.1633A>G (p.Asn545Asp) c.1630A>G (p.Asn544Asp) | |
| 19 | g.15187312T>G | CA404526075 | NOTCH3 | c.1633A>C (p.Asn545His) c.1630A>C (p.Asn544His) | |
| 19 | g.15187313G>A | CA505827348 | NOTCH3 | c.1632C>T (p.Arg544=) c.1629C>T (p.Arg543=) | |
| 19 | g.15187313G>C | CA505827349 | NOTCH3 | c.1632C>G (p.Arg544=) c.1629C>G (p.Arg543=) | |
| 19 | g.15187313G>T | CA505827350 | NOTCH3 | c.1632C>A (p.Arg544=) c.1629C>A (p.Arg543=) | |
| 19 | g.15187314C>A | CA404526078 | NOTCH3 | c.1631G>T (p.Arg544Leu) c.1628G>T (p.Arg543Leu) | |
| 19 | g.15187314C= | CA2324747721 | NOTCH3 | c.1631G= (p.Arg544=) c.1628G= (p.Arg543=) | |
| 19 | g.15187314C>G | CA404526080 | NOTCH3 | c.1631G>C (p.Arg544Pro) c.1628G>C (p.Arg543Pro) | |
| 19 | g.15187314C>T | CA9263594 | NOTCH3 | c.1631G>A (p.Arg544His) c.1628G>A (p.Arg543His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187315G>A | CA9263595 | NOTCH3 | c.1630C>T (p.Arg544Cys) c.1627C>T (p.Arg543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187315G>C | CA404526087 | NOTCH3 | c.1630C>G (p.Arg544Gly) c.1627C>G (p.Arg543Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187315G= | CA2324747722 | NOTCH3 | c.1630C= (p.Arg544=) c.1627C= (p.Arg543=) | |
| 19 | g.15187315G>T | CA404526089 | NOTCH3 | c.1630C>A (p.Arg544Ser) c.1627C>A (p.Arg543Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.15187316A= | CA2324747723 | NOTCH3 | c.1629T= (p.Asp543=) c.1626T= (p.Asp542=) | |
| 19 | g.15187316A>C | CA404526091 | NOTCH3 | c.1629T>G (p.Asp543Glu) c.1626T>G (p.Asp542Glu) | dbSNP |
| 19 | g.15187316A>G | CA505827351 | NOTCH3 | c.1629T>C (p.Asp543=) c.1626T>C (p.Asp542=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187316A>T | CA404526092 | NOTCH3 | c.1629T>A (p.Asp543Glu) c.1626T>A (p.Asp542Glu) | |
| 19 | g.15187317T>A | CA404526094 | NOTCH3 | c.1628A>T (p.Asp543Val) c.1625A>T (p.Asp542Val) | gnomAD v4 |
| 19 | g.15187317T>C | CA404526096 | NOTCH3 | c.1628A>G (p.Asp543Gly) c.1625A>G (p.Asp542Gly) | |
| 19 | g.15187317T>G | CA404526097 | NOTCH3 | c.1628A>C (p.Asp543Ala) c.1625A>C (p.Asp542Ala) | |
| 19 | g.15187318C>A | CA404526100 | NOTCH3 | c.1627G>T (p.Asp543Tyr) c.1624G>T (p.Asp542Tyr) | |
| 19 | g.15187318C>G | CA404526098 | NOTCH3 | c.1627G>C (p.Asp543His) c.1624G>C (p.Asp542His) | |
| 19 | g.15187318C>T | CA404526099 | NOTCH3 | c.1627G>A (p.Asp543Asn) c.1624G>A (p.Asp542Asn) | |
| 19 | g.15187319A>C | CA404526101 | NOTCH3 | c.1626T>G (p.Cys542Trp) c.1623T>G (p.Cys541Trp) | |
| 19 | g.15187319A>G | CA505827352 | NOTCH3 | c.1626T>C (p.Cys542=) c.1623T>C (p.Cys541=) | |
| 19 | g.15187319A>T | CA404526103 | NOTCH3 | c.1626T>A (p.Cys542Ter) c.1623T>A (p.Cys541Ter) | |
| 19 | g.15187320C>A | CA404526106 | NOTCH3 | c.1625G>T (p.Cys542Phe) c.1622G>T (p.Cys541Phe) | |
| 19 | g.15187320C>G | CA404526107 | NOTCH3 | c.1625G>C (p.Cys542Ser) c.1622G>C (p.Cys541Ser) | |
| 19 | g.15187320C>T | CA404526109 | NOTCH3 | c.1625G>A (p.Cys542Tyr) c.1622G>A (p.Cys541Tyr) | ClinVar |
| 19 | g.15187321A>C | CA404526111 | NOTCH3 | c.1624T>G (p.Cys542Gly) c.1621T>G (p.Cys541Gly) | |
| 19 | g.15187321A>G | CA404526112 | NOTCH3 | c.1624T>C (p.Cys542Arg) c.1621T>C (p.Cys541Arg) | ClinVar dbSNP |
| 19 | g.15187321A>T | CA404526114 | NOTCH3 | c.1624T>A (p.Cys542Ser) c.1621T>A (p.Cys541Ser) | |
| 19 | g.15187322C>A | CA505827353 | NOTCH3 | c.1623G>T (p.Leu541=) c.1620G>T (p.Leu540=) | |
| 19 | g.15187322C>G | CA505827354 | NOTCH3 | c.1623G>C (p.Leu541=) c.1620G>C (p.Leu540=) | |
| 19 | g.15187322C>T | CA505827355 | NOTCH3 | c.1623G>A (p.Leu541=) c.1620G>A (p.Leu540=) | dbSNP |
| 19 | g.15187323A= | CA2324747724 | NOTCH3 | c.1622T= (p.Leu541=) c.1619T= (p.Leu540=) | |
| 19 | g.15187323A>C | CA404526115 | NOTCH3 | c.1622T>G (p.Leu541Arg) c.1619T>G (p.Leu540Arg) | |
| 19 | g.15187323A>G | CA404526117 | NOTCH3 | c.1622T>C (p.Leu541Pro) c.1619T>C (p.Leu540Pro) | |
| 19 | g.15187323A>T | CA404526118 | NOTCH3 | c.1622T>A (p.Leu541Gln) c.1619T>A (p.Leu540Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187324G>A | CA505827356 | NOTCH3 | c.1621C>T (p.Leu541=) c.1618C>T (p.Leu540=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187324G>C | CA404526125 | NOTCH3 | c.1621C>G (p.Leu541Val) c.1618C>G (p.Leu540Val) | |
| 19 | g.15187324G= | CA2324747725 | NOTCH3 | c.1621C= (p.Leu541=) c.1618C= (p.Leu540=) | |
| 19 | g.15187324G>T | CA404526126 | NOTCH3 | c.1621C>A (p.Leu541Met) c.1618C>A (p.Leu540Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187325C>A | CA9263596 | NOTCH3 | c.1620G>T (p.Thr540=) c.1617G>T (p.Thr539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187325C= | CA2324747726 | NOTCH3 | c.1620G= (p.Thr540=) c.1617G= (p.Thr539=) | |
| 19 | g.15187325C>G | CA505827357 | NOTCH3 | c.1620G>C (p.Thr540=) c.1617G>C (p.Thr539=) | |
| 19 | g.15187325C>T | CA9263597 | NOTCH3 | c.1620G>A (p.Thr540=) c.1617G>A (p.Thr539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187326G>A | CA9263598 | NOTCH3 | c.1619C>T (p.Thr540Met) c.1616C>T (p.Thr539Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187326G>C | CA9263599 | NOTCH3 | c.1619C>G (p.Thr540Arg) c.1616C>G (p.Thr539Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187326G= | CA2324747727 | NOTCH3 | c.1619C= (p.Thr540=) c.1616C= (p.Thr539=) | |
| 19 | g.15187326G>T | CA404526131 | NOTCH3 | c.1619C>A (p.Thr540Lys) c.1616C>A (p.Thr539Lys) | |
| 19 | g.15187327T>A | CA404526133 | NOTCH3 | c.1618A>T (p.Thr540Ser) c.1615A>T (p.Thr539Ser) | |
| 19 | g.15187327T>C | CA404526135 | NOTCH3 | c.1618A>G (p.Thr540Ala) c.1615A>G (p.Thr539Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187327T>G | CA404526136 | NOTCH3 | c.1618A>C (p.Thr540Pro) c.1615A>C (p.Thr539Pro) | |
| 19 | g.15187327T= | CA2324747728 | NOTCH3 | c.1618A= (p.Thr540=) c.1615A= (p.Thr539=) | |
| 19 | g.15187328G>A | CA505827358 | NOTCH3 | c.1617C>T (p.Gly539=) c.1614C>T (p.Gly538=) | |
| 19 | g.15187328G>C | CA505827359 | NOTCH3 | c.1617C>G (p.Gly539=) c.1614C>G (p.Gly538=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187328G= | CA2324747729 | NOTCH3 | c.1617C= (p.Gly539=) c.1614C= (p.Gly538=) | |
| 19 | g.15187328G>T | CA505827360 | NOTCH3 | c.1617C>A (p.Gly539=) c.1614C>A (p.Gly538=) | |
| 19 | g.15187329C>A | CA404526142 | NOTCH3 | c.1616G>T (p.Gly539Val) c.1613G>T (p.Gly538Val) | |
| 19 | g.15187329C>G | CA404526138 | NOTCH3 | c.1616G>C (p.Gly539Ala) c.1613G>C (p.Gly538Ala) | gnomAD v4 |
| 19 | g.15187329C>T | CA404526141 | NOTCH3 | c.1616G>A (p.Gly539Asp) c.1613G>A (p.Gly538Asp) | gnomAD v4 |
| 19 | g.15187330C>A | CA404526144 | NOTCH3 | c.1615G>T (p.Gly539Cys) c.1612G>T (p.Gly538Cys) | |
| 19 | g.15187330C>G | CA404526146 | NOTCH3 | c.1615G>C (p.Gly539Arg) c.1612G>C (p.Gly538Arg) | |
| 19 | g.15187330C>T | CA404526147 | NOTCH3 | c.1615G>A (p.Gly539Ser) c.1612G>A (p.Gly538Ser) | gnomAD v4 |
| 19 | g.15187331C>A | CA404526149 | NOTCH3 | c.1614G>T (p.Glu538Asp) c.1611G>T (p.Glu537Asp) | |
| 19 | g.15187331C= | CA2324747730 | NOTCH3 | c.1614G= (p.Glu538=) c.1611G= (p.Glu537=) | |
| 19 | g.15187331C>G | CA404526150 | NOTCH3 | c.1614G>C (p.Glu538Asp) c.1611G>C (p.Glu537Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187331C>T | CA505827361 | NOTCH3 | c.1614G>A (p.Glu538=) c.1611G>A (p.Glu537=) | gnomAD v4 |
| 19 | g.15187332T>A | CA404526152 | NOTCH3 | c.1613A>T (p.Glu538Val) c.1610A>T (p.Glu537Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187332T>C | CA404526155 | NOTCH3 | c.1613A>G (p.Glu538Gly) c.1610A>G (p.Glu537Gly) | dbSNP |
| 19 | g.15187332T>G | CA404526153 | NOTCH3 | c.1613A>C (p.Glu538Ala) c.1610A>C (p.Glu537Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187332T= | CA2324747731 | NOTCH3 | c.1613A= (p.Glu538=) c.1610A= (p.Glu537=) | |
| 19 | g.15187333C>A | CA404526156 | NOTCH3 | c.1612G>T (p.Glu538Ter) c.1609G>T (p.Glu537Ter) | |
| 19 | g.15187333C= | CA2324747732 | NOTCH3 | c.1612G= (p.Glu538=) c.1609G= (p.Glu537=) | |
| 19 | g.15187333C>G | CA404526158 | NOTCH3 | c.1612G>C (p.Glu538Gln) c.1609G>C (p.Glu537Gln) | |
| 19 | g.15187333C>T | CA404526159 | NOTCH3 | c.1612G>A (p.Glu538Lys) c.1609G>A (p.Glu537Lys) | |
| 19 | g.15187334A>C | CA404526161 | NOTCH3 | c.1611T>G (p.Phe537Leu) c.1608T>G (p.Phe536Leu) | |
| 19 | g.15187334A>G | CA505827362 | NOTCH3 | c.1611T>C (p.Phe537=) c.1608T>C (p.Phe536=) | |
| 19 | g.15187334A>T | CA404526163 | NOTCH3 | c.1611T>A (p.Phe537Leu) c.1608T>A (p.Phe536Leu) | |
| 19 | g.15187335_15187336insGAA | CA783619449 | NOTCH3 | c.1611_1612insCTT (p.Phe537_Glu538insLeu) c.1608_1609insCTT (p.Phe536_Glu537insLeu) | dbSNP |
| 19 | g.15187335A>C | CA404526165 | NOTCH3 | c.1610T>G (p.Phe537Cys) c.1607T>G (p.Phe536Cys) | |
| 19 | g.15187335A>G | CA404526166 | NOTCH3 | c.1610T>C (p.Phe537Ser) c.1607T>C (p.Phe536Ser) | |
| 19 | g.15187335A>T | CA404526168 | NOTCH3 | c.1610T>A (p.Phe537Tyr) c.1607T>A (p.Phe536Tyr) | |
| 19 | g.15187336A>C | CA404526170 | NOTCH3 | c.1609T>G (p.Phe537Val) c.1606T>G (p.Phe536Val) | |
| 19 | g.15187336A>G | CA404526171 | NOTCH3 | c.1609T>C (p.Phe537Leu) c.1606T>C (p.Phe536Leu) | |
| 19 | g.15187336A>T | CA404526172 | NOTCH3 | c.1609T>A (p.Phe537Ile) c.1606T>A (p.Phe536Ile) | |
| 19 | g.15187337G>A | CA505827363 | NOTCH3 | c.1608C>T (p.Gly536=) c.1605C>T (p.Gly535=) | |
| 19 | g.15187337G>C | CA505827364 | NOTCH3 | c.1608C>G (p.Gly536=) c.1605C>G (p.Gly535=) | |
| 19 | g.15187337G= | CA2324747733 | NOTCH3 | c.1608C= (p.Gly536=) c.1605C= (p.Gly535=) | |
| 19 | g.15187337G>T | CA9263600 | NOTCH3 | c.1608C>A (p.Gly536=) c.1605C>A (p.Gly535=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187338C>A | CA404526176 | NOTCH3 | c.1607G>T (p.Gly536Val) c.1604G>T (p.Gly535Val) | |
| 19 | g.15187338C>G | CA404526177 | NOTCH3 | c.1607G>C (p.Gly536Ala) c.1604G>C (p.Gly535Ala) | |
| 19 | g.15187338C>T | CA404526174 | NOTCH3 | c.1607G>A (p.Gly536Asp) c.1604G>A (p.Gly535Asp) | |
| 19 | g.15187339C>A | CA404526180 | NOTCH3 | c.1607-1G>T (n.1607-1G>T) c.1604-1G>T (n.1604-1G>T) | |
| 19 | g.15187339C>G | CA404526179 | NOTCH3 | c.1607-1G>C (n.1607-1G>C) c.1604-1G>C (n.1604-1G>C) | |
| 19 | g.15187339C>T | CA404526182 | NOTCH3 | c.1607-1G>A (n.1607-1G>A) c.1604-1G>A (n.1604-1G>A) | |
| 19 | g.15187340T>A | CA404526183 | NOTCH3 | c.1607-2A>T (n.1607-2A>T) c.1604-2A>T (n.1604-2A>T) | |
| 19 | g.15187340T>C | CA404526185 | NOTCH3 | c.1607-2A>G (n.1607-2A>G) c.1604-2A>G (n.1604-2A>G) | |
| 19 | g.15187340T>G | CA404526184 | NOTCH3 | c.1607-2A>C (n.1607-2A>C) c.1604-2A>C (n.1604-2A>C) | |
| 19 | g.15187341G>A | CA305775041 | NOTCH3 | c.1607-3C>T (n.1607-3C>T) c.1604-3C>T (n.1604-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187341G= | CA2324747734 | NOTCH3 | c.1607-3C= (n.1607-3C=) c.1604-3C= (n.1604-3C=) | |
| 19 | g.15187341G>T | CA2531162334 | NOTCH3 | c.1607-3C>A (n.1607-3C>A) c.1604-3C>A (n.1604-3C>A) | |
| 19 | g.15187342T>C | CA783619456 | NOTCH3 | c.1607-4A>G (n.1607-4A>G) c.1604-4A>G (n.1604-4A>G) | dbSNP gnomAD v4 |
| 19 | g.15187342T= | CA2324747735 | NOTCH3 | c.1607-4A= (n.1607-4A=) c.1604-4A= (n.1604-4A=) | |
| 19 | g.15187343G>A | CA9263602 | NOTCH3 | c.1607-5C>T (n.1607-5C>T) c.1604-5C>T (n.1604-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187343G= | CA2324747736 | NOTCH3 | c.1607-5C= (n.1607-5C=) c.1604-5C= (n.1604-5C=) | |
| 19 | g.15187343G>T | CA9263601 | NOTCH3 | c.1607-5C>A (n.1607-5C>A) c.1604-5C>A (n.1604-5C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187344G>A | CA783619457 | NOTCH3 | c.1607-6C>T (n.1607-6C>T) c.1604-6C>T (n.1604-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187344G= | CA2324747737 | NOTCH3 | c.1607-6C= (n.1607-6C=) c.1604-6C= (n.1604-6C=) | |
| 19 | g.15187345G>A | CA2324747739 | NOTCH3 | c.1607-7C>T (n.1607-7C>T) c.1604-7C>T (n.1604-7C>T) | dbSNP |
| 19 | g.15187345G= | CA2324747738 | NOTCH3 | c.1607-7C= (n.1607-7C=) c.1604-7C= (n.1604-7C=) | |
| 19 | g.15187345G>T | CA631945118 | NOTCH3 | c.1607-7C>A (n.1607-7C>A) c.1604-7C>A (n.1604-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187346G>A | CA631945120 | NOTCH3 | c.1607-8C>T (n.1607-8C>T) c.1604-8C>T (n.1604-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187346G= | CA2324747740 | NOTCH3 | c.1607-8C= (n.1607-8C=) c.1604-8C= (n.1604-8C=) | |
| 19 | g.15187347C>A | CA2583064582 | NOTCH3 | c.1607-9G>T (n.1607-9G>T) c.1604-9G>T (n.1604-9G>T) | gnomAD v4 |
| 19 | g.15187347C= | CA2324747741 | NOTCH3 | c.1607-9G= (n.1607-9G=) c.1604-9G= (n.1604-9G=) | |
| 19 | g.15187347C>T | CA631945121 | NOTCH3 | c.1607-9G>A (n.1607-9G>A) c.1604-9G>A (n.1604-9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187348del | CA2583064583 | NOTCH3 | c.1607-9del (n.1607-9del) c.1604-9del (n.1604-9del) | gnomAD v4 |
| 19 | g.15187348C>A | CA2576654801 | NOTCH3 | c.1607-10G>T (n.1607-10G>T) c.1604-10G>T (n.1604-10G>T) | dbSNP gnomAD v4 |
| 19 | g.15187348C>G | CA2583064584 | NOTCH3 | c.1607-10G>C (n.1607-10G>C) c.1604-10G>C (n.1604-10G>C) | gnomAD v4 |
| 19 | g.15187348_15187349delinsCA | CA2324747742 | NOTCH3 | c.1607-11_1607-10delinsTG (n.1607-11_1607-10delinsTG) c.1604-11_1604-10delinsTG (n.1604-11_1604-10delinsTG) | |
| 19 | g.15187348_15187350delinsCAA | CA2324747743 | NOTCH3 | c.1607-12_1607-10delinsTTG (n.1607-12_1607-10delinsTTG) c.1604-12_1604-10delinsTTG (n.1604-12_1604-10delinsTTG) | |
| 19 | g.15187349A= | CA2324747745 | NOTCH3 | c.1607-11T= (n.1607-11T=) c.1604-11T= (n.1604-11T=) | |
| 19 | g.15187349A>G | CA2324747746 | NOTCH3 | c.1607-11T>C (n.1607-11T>C) c.1604-11T>C (n.1604-11T>C) | dbSNP gnomAD v4 |
| 19 | g.15187349_15187350del | CA505827365 | NOTCH3 | c.1607-12_1607-11del (n.1607-12_1607-11del) c.1604-12_1604-11del (n.1604-12_1604-11del) | dbSNP gnomAD v4 |
| 19 | g.15187350del | CA2324747744 | NOTCH3 | c.1607-11del (n.1607-11del) c.1604-11del (n.1604-11del) | dbSNP |
| 19 | g.15187350A= | CA2324747747 | NOTCH3 | c.1607-12T= (n.1607-12T=) c.1604-12T= (n.1604-12T=) | |
| 19 | g.15187350A>G | CA505827366 | NOTCH3 | c.1607-12T>C (n.1607-12T>C) c.1604-12T>C (n.1604-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187351G>C | CA2583064585 | NOTCH3 | c.1607-13C>G (n.1607-13C>G) c.1604-13C>G (n.1604-13C>G) | gnomAD v4 |
| 19 | g.15187351G= | CA2324747748 | NOTCH3 | c.1607-13C= (n.1607-13C=) c.1604-13C= (n.1604-13C=) | |
| 19 | g.15187351G>T | CA9263603 | NOTCH3 | c.1607-13C>A (n.1607-13C>A) c.1604-13C>A (n.1604-13C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187352A= | CA2324747749 | NOTCH3 | c.1607-14T= (n.1607-14T=) c.1604-14T= (n.1604-14T=) | |
| 19 | g.15187352A>C | CA2583064586 | NOTCH3 | c.1607-14T>G (n.1607-14T>G) c.1604-14T>G (n.1604-14T>G) | gnomAD v4 |
| 19 | g.15187352A>G | CA9263604 | NOTCH3 | c.1607-14T>C (n.1607-14T>C) c.1604-14T>C (n.1604-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187353G>A | CA2576654802 | NOTCH3 | c.1607-15C>T (n.1607-15C>T) c.1604-15C>T (n.1604-15C>T) | gnomAD v4 |
| 19 | g.15187353G>C | CA2583064587 | NOTCH3 | c.1607-15C>G (n.1607-15C>G) c.1604-15C>G (n.1604-15C>G) | gnomAD v4 |
| 19 | g.15187353G>T | CA2583064588 | NOTCH3 | c.1607-15C>A (n.1607-15C>A) c.1604-15C>A (n.1604-15C>A) | gnomAD v4 |
| 19 | g.15187354G>A | CA9263605 | NOTCH3 | c.1607-16C>T (n.1607-16C>T) c.1604-16C>T (n.1604-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187354G= | CA2324747750 | NOTCH3 | c.1607-16C= (n.1607-16C=) c.1604-16C= (n.1604-16C=) | |
| 19 | g.15187355G>A | CA2576654803 | NOTCH3 | c.1607-17C>T (n.1607-17C>T) c.1604-17C>T (n.1604-17C>T) | dbSNP gnomAD v4 |
| 19 | g.15187356T>A | CA2735650466 | NOTCH3 | c.1607-18A>T (n.1607-18A>T) c.1604-18A>T (n.1604-18A>T) | dbSNP |
| 19 | g.15187356T>C | CA783619459 | NOTCH3 | c.1607-18A>G (n.1607-18A>G) c.1604-18A>G (n.1604-18A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187356T>G | CA2576654804 | NOTCH3 | c.1607-18A>C (n.1607-18A>C) c.1604-18A>C (n.1604-18A>C) | |
| 19 | g.15187356T= | CA2324747751 | NOTCH3 | c.1607-18A= (n.1607-18A=) c.1604-18A= (n.1604-18A=) | |
| 19 | g.15187359G= | CA2324747752 | NOTCH3 | c.1607-21C= (n.1607-21C=) c.1604-21C= (n.1604-21C=) | |
| 19 | g.15187359G>T | CA2324747753 | NOTCH3 | c.1607-21C>A (n.1607-21C>A) c.1604-21C>A (n.1604-21C>A) | dbSNP |
| 19 | g.15187360G>A | CA631945125 | NOTCH3 | c.1607-22C>T (n.1607-22C>T) c.1604-22C>T (n.1604-22C>T) | dbSNP gnomAD v2 |
| 19 | g.15187360G= | CA2324747754 | NOTCH3 | c.1607-22C= (n.1607-22C=) c.1604-22C= (n.1604-22C=) | |
| 19 | g.15187361C= | CA2324747755 | NOTCH3 | c.1607-23G= (n.1607-23G=) c.1604-23G= (n.1604-23G=) | |
| 19 | g.15187361C>T | CA631945126 | NOTCH3 | c.1607-23G>A (n.1607-23G>A) c.1604-23G>A (n.1604-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187362T>A | CA2735784639 | NOTCH3 | c.1607-24A>T (n.1607-24A>T) c.1604-24A>T (n.1604-24A>T) | dbSNP |
| 19 | g.15187363C= | CA2324747757 | NOTCH3 | c.1607-25G= (n.1607-25G=) c.1604-25G= (n.1604-25G=) | |
| 19 | g.15187363C>G | CA2324747756 | NOTCH3 | c.1607-25G>C (n.1607-25G>C) c.1604-25G>C (n.1604-25G>C) | dbSNP gnomAD v4 |
| 19 | g.15187364C>A | CA2576654805 | NOTCH3 | c.1607-26G>T (n.1607-26G>T) c.1604-26G>T (n.1604-26G>T) | |
| 19 | g.15187364C= | CA2324747758 | NOTCH3 | c.1607-26G= (n.1607-26G=) c.1604-26G= (n.1604-26G=) | |
| 19 | g.15187364C>T | CA9263606 | NOTCH3 | c.1607-26G>A (n.1607-26G>A) c.1604-26G>A (n.1604-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187365G>A | CA2324747760 | NOTCH3 | c.1607-27C>T (n.1607-27C>T) c.1604-27C>T (n.1604-27C>T) | dbSNP gnomAD v4 |
| 19 | g.15187365G= | CA2324747759 | NOTCH3 | c.1607-27C= (n.1607-27C=) c.1604-27C= (n.1604-27C=) | |
| 19 | g.15187365G>T | CA2583064589 | NOTCH3 | c.1607-27C>A (n.1607-27C>A) c.1604-27C>A (n.1604-27C>A) | gnomAD v4 |
| 19 | g.15187366C>A | CA2583064590 | NOTCH3 | c.1607-28G>T (n.1607-28G>T) c.1604-28G>T (n.1604-28G>T) | gnomAD v4 |
| 19 | g.15187366C>T | CA2735784640 | NOTCH3 | c.1607-28G>A (n.1607-28G>A) c.1604-28G>A (n.1604-28G>A) | dbSNP |
| 19 | g.15187367C>A | CA2583064591 | NOTCH3 | c.1607-29G>T (n.1607-29G>T) c.1604-29G>T (n.1604-29G>T) | gnomAD v4 |
| 19 | g.15187367C>G | CA2583064592 | NOTCH3 | c.1607-29G>C (n.1607-29G>C) c.1604-29G>C (n.1604-29G>C) | gnomAD v4 |
| 19 | g.15187368C>G | CA2813728309 | NOTCH3 | c.1607-30G>C (n.1607-30G>C) c.1604-30G>C (n.1604-30G>C) | |
| 19 | g.15187369A>C | CA2735784641 | NOTCH3 | c.1607-31T>G (n.1607-31T>G) c.1604-31T>G (n.1604-31T>G) | dbSNP |
| 19 | g.15187370C>A | CA2583064593 | NOTCH3 | c.1607-32G>T (n.1607-32G>T) c.1604-32G>T (n.1604-32G>T) | gnomAD v4 |
| 19 | g.15187371T>C | CA2583064594 | NOTCH3 | c.1607-33A>G (n.1607-33A>G) c.1604-33A>G (n.1604-33A>G) | gnomAD v4 |
| 19 | g.15187372T>C | CA2583064595 | NOTCH3 | c.1607-34A>G (n.1607-34A>G) c.1604-34A>G (n.1604-34A>G) | dbSNP gnomAD v4 |
| 19 | g.15187373G>A | CA631945127 | NOTCH3 | c.1607-35C>T (n.1607-35C>T) c.1604-35C>T (n.1604-35C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187373G= | CA2324747761 | NOTCH3 | c.1607-35C= (n.1607-35C=) c.1604-35C= (n.1604-35C=) | |
| 19 | g.15187373G>T | CA2583064596 | NOTCH3 | c.1607-35C>A (n.1607-35C>A) c.1604-35C>A (n.1604-35C>A) | gnomAD v4 |