Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186287782_186287789delinsATCTGTGCCA1519939437F11,F11-AS1c.1675_1682delinsATCTGTGC (p.Ile559=)
c.275_282delinsATCTGTGC
c.1513_1520delinsATCTGTGC (p.Ile505=)
n.194_201delinsATCTGTGC
n.1066+639_1066+646delinsGCACAGAT
c.1678_1685delinsATCTGTGC (p.Ile560=)
c.1582_1589delinsATCTGTGC (p.Ile528=)
c.1408_1415delinsATCTGTGC (p.Ile470=)
c.1630_1637delinsATCTGTGC (p.Ile544=)
4g.186287783_186287789delCA16040951F11,F11-AS1c.1676_1682del (p.Ile559ThrfsTer30)
c.276_282del
c.1514_1520del (p.Ile505ThrfsTer30)
n.195_201del
n.1066+639_1066+645del
c.1679_1685del (p.Ile560ThrfsTer30)
c.1583_1589del (p.Ile528ThrfsTer30)
c.1409_1415del (p.Ile470ThrfsTer30)
c.1631_1637del (p.Ile544ThrfsTer30)
 ClinVar dbSNP
4g.186287789C>ACA358945681F11,F11-AS1c.1682C>A (p.Ala561Asp)
c.282C>A
c.1520C>A (p.Ala507Asp)
n.201C>A
n.1066+639G>T
c.1685C>A (p.Ala562Asp)
c.1589C>A (p.Ala530Asp)
c.1415C>A (p.Ala472Asp)
c.1637C>A (p.Ala546Asp)
4g.186287789C>GCA358945682F11,F11-AS1c.1682C>G (p.Ala561Gly)
c.282C>G
c.1520C>G (p.Ala507Gly)
n.201C>G
n.1066+639G>C
c.1685C>G (p.Ala562Gly)
c.1589C>G (p.Ala530Gly)
c.1415C>G (p.Ala472Gly)
c.1637C>G (p.Ala546Gly)
4g.186287789C>TCA358945683F11,F11-AS1c.1682C>T (p.Ala561Val)
c.282C>T
c.1520C>T (p.Ala507Val)
n.201C>T
n.1066+639G>A
c.1685C>T (p.Ala562Val)
c.1589C>T (p.Ala530Val)
c.1415C>T (p.Ala472Val)
c.1637C>T (p.Ala546Val)
4g.186287790C>ACA442641159F11,F11-AS1c.1683C>A (p.Ala561=)
c.283C>A
c.1521C>A (p.Ala507=)
n.202C>A
n.1066+638G>T
c.1686C>A (p.Ala562=)
c.1590C>A (p.Ala530=)
c.1416C>A (p.Ala472=)
c.1638C>A (p.Ala546=)
4g.186287790C=CA1519939439F11,F11-AS1c.1683C= (p.Ala561=)
c.283C=
c.1521C= (p.Ala507=)
n.202C=
n.1066+638G=
c.1686C= (p.Ala562=)
c.1590C= (p.Ala530=)
c.1416C= (p.Ala472=)
c.1638C= (p.Ala546=)
4g.186287790C>GCA442641160F11,F11-AS1c.1683C>G (p.Ala561=)
c.283C>G
c.1521C>G (p.Ala507=)
n.202C>G
n.1066+638G>C
c.1686C>G (p.Ala562=)
c.1590C>G (p.Ala530=)
c.1416C>G (p.Ala472=)
c.1638C>G (p.Ala546=)
4g.186287790C>TCA3164072F11,F11-AS1c.1683C>T (p.Ala561=)
c.283C>T
c.1521C>T (p.Ala507=)
n.202C>T
n.1066+638G>A
c.1686C>T (p.Ala562=)
c.1590C>T (p.Ala530=)
c.1416C>T (p.Ala472=)
c.1638C>T (p.Ala546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.186287790_186287791delinsCGCA1519939440F11,F11-AS1c.1683_1684delinsCG (p.Ala561=)
c.283_284delinsCG
c.1521_1522delinsCG (p.Ala507=)
n.202_203delinsCG
n.1066+637_1066+638delinsCG
c.1686_1687delinsCG (p.Ala562=)
c.1590_1591delinsCG (p.Ala530=)
c.1416_1417delinsCG (p.Ala472=)
c.1638_1639delinsCG (p.Ala546=)
4g.186287791G>ACA3164073F11,F11-AS1c.1684G>A (p.Gly562Ser)
c.284G>A
c.1522G>A (p.Gly508Ser)
n.203G>A
n.1066+637C>T
c.1687G>A (p.Gly563Ser)
c.1591G>A (p.Gly531Ser)
c.1417G>A (p.Gly473Ser)
c.1639G>A (p.Gly547Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186287791G>CCA358945684F11,F11-AS1c.1684G>C (p.Gly562Arg)
c.284G>C
c.1522G>C (p.Gly508Arg)
n.203G>C
n.1066+637C>G
c.1687G>C (p.Gly563Arg)
c.1591G>C (p.Gly531Arg)
c.1417G>C (p.Gly473Arg)
c.1639G>C (p.Gly547Arg)
4g.186287791G=CA1519939441F11,F11-AS1c.1684G= (p.Gly562=)
c.284G=
c.1522G= (p.Gly508=)
n.203G=
n.1066+637C=
c.1687G= (p.Gly563=)
c.1591G= (p.Gly531=)
c.1417G= (p.Gly473=)
c.1639G= (p.Gly547=)
4g.186287791G>TCA358945685F11,F11-AS1c.1684G>T (p.Gly562Cys)
c.284G>T
c.1522G>T (p.Gly508Cys)
n.203G>T
n.1066+637C>A
c.1687G>T (p.Gly563Cys)
c.1591G>T (p.Gly531Cys)
c.1417G>T (p.Gly473Cys)
c.1639G>T (p.Gly547Cys)
4g.186287792delCA1071927817F11,F11-AS1c.1685del (p.Gly562AlafsTer29)
c.285del
c.1523del (p.Gly508AlafsTer29)
n.204del
n.1066+637del
c.1688del (p.Gly563AlafsTer29)
c.1592del (p.Gly531AlafsTer29)
c.1418del (p.Gly473AlafsTer29)
c.1640del (p.Gly547AlafsTer29)
 dbSNP gnomAD v3 gnomAD v4
4g.186287792G>ACA358945686F11,F11-AS1c.1685G>A (p.Gly562Asp)
c.285G>A
c.1523G>A (p.Gly508Asp)
n.204G>A
n.1066+636C>T
c.1688G>A (p.Gly563Asp)
c.1592G>A (p.Gly531Asp)
c.1418G>A (p.Gly473Asp)
c.1640G>A (p.Gly547Asp)
4g.186287792G>CCA358945688F11,F11-AS1c.1685G>C (p.Gly562Ala)
c.285G>C
c.1523G>C (p.Gly508Ala)
n.204G>C
n.1066+636C>G
c.1688G>C (p.Gly563Ala)
c.1592G>C (p.Gly531Ala)
c.1418G>C (p.Gly473Ala)
c.1640G>C (p.Gly547Ala)
4g.186287792G>TCA358945687F11,F11-AS1c.1685G>T (p.Gly562Val)
c.285G>T
c.1523G>T (p.Gly508Val)
n.204G>T
n.1066+636C>A
c.1688G>T (p.Gly563Val)
c.1592G>T (p.Gly531Val)
c.1418G>T (p.Gly473Val)
c.1640G>T (p.Gly547Val)
4g.186287793C>ACA442641164F11,F11-AS1c.1686C>A (p.Gly562=)
c.286C>A
c.1524C>A (p.Gly508=)
n.205C>A
n.1066+635G>T
c.1689C>A (p.Gly563=)
c.1593C>A (p.Gly531=)
c.1419C>A (p.Gly473=)
c.1641C>A (p.Gly547=)
 gnomAD v3 gnomAD v4
4g.186287793C>GCA442641165F11,F11-AS1c.1686C>G (p.Gly562=)
c.286C>G
c.1524C>G (p.Gly508=)
n.205C>G
n.1066+635G>C
c.1689C>G (p.Gly563=)
c.1593C>G (p.Gly531=)
c.1419C>G (p.Gly473=)
c.1641C>G (p.Gly547=)
4g.186287793C>TCA442641166F11,F11-AS1c.1686C>T (p.Gly562=)
c.286C>T
c.1524C>T (p.Gly508=)
n.205C>T
n.1066+635G>A
c.1689C>T (p.Gly563=)
c.1593C>T (p.Gly531=)
c.1419C>T (p.Gly473=)
c.1641C>T (p.Gly547=)
4g.186287794T>ACA358945689F11,F11-AS1c.1687T>A (p.Tyr563Asn)
c.287T>A
c.1525T>A (p.Tyr509Asn)
n.206T>A
n.1066+634A>T
c.1690T>A (p.Tyr564Asn)
c.1594T>A (p.Tyr532Asn)
c.1420T>A (p.Tyr474Asn)
c.1642T>A (p.Tyr548Asn)
4g.186287794T>CCA358945690F11,F11-AS1c.1687T>C (p.Tyr563His)
c.287T>C
c.1525T>C (p.Tyr509His)
n.206T>C
n.1066+634A>G
c.1690T>C (p.Tyr564His)
c.1594T>C (p.Tyr532His)
c.1420T>C (p.Tyr474His)
c.1642T>C (p.Tyr548His)
 dbSNP
4g.186287794T>GCA358945691F11,F11-AS1c.1687T>G (p.Tyr563Asp)
c.287T>G
c.1525T>G (p.Tyr509Asp)
n.206T>G
n.1066+634A>C
c.1690T>G (p.Tyr564Asp)
c.1594T>G (p.Tyr532Asp)
c.1420T>G (p.Tyr474Asp)
c.1642T>G (p.Tyr548Asp)
4g.186287794T=CA1519939442F11,F11-AS1c.1687T= (p.Tyr563=)
c.287T=
c.1525T= (p.Tyr509=)
n.206T=
n.1066+634A=
c.1690T= (p.Tyr564=)
c.1594T= (p.Tyr532=)
c.1420T= (p.Tyr474=)
c.1642T= (p.Tyr548=)
4g.186287795A>CCA358945692F11,F11-AS1c.1688A>C (p.Tyr563Ser)
c.288A>C
c.1526A>C (p.Tyr509Ser)
n.207A>C
n.1066+633T>G
c.1691A>C (p.Tyr564Ser)
c.1595A>C (p.Tyr532Ser)
c.1421A>C (p.Tyr474Ser)
c.1643A>C (p.Tyr548Ser)
4g.186287795A>GCA358945693F11,F11-AS1c.1688A>G (p.Tyr563Cys)
c.288A>G
c.1526A>G (p.Tyr509Cys)
n.207A>G
n.1066+633T>C
c.1691A>G (p.Tyr564Cys)
c.1595A>G (p.Tyr532Cys)
c.1421A>G (p.Tyr474Cys)
c.1643A>G (p.Tyr548Cys)
4g.186287795A>TCA358945694F11,F11-AS1c.1688A>T (p.Tyr563Phe)
c.288A>T
c.1526A>T (p.Tyr509Phe)
n.207A>T
n.1066+633T>A
c.1691A>T (p.Tyr564Phe)
c.1595A>T (p.Tyr532Phe)
c.1421A>T (p.Tyr474Phe)
c.1643A>T (p.Tyr548Phe)
4g.186287796C>ACA358945695F11,F11-AS1c.1689C>A (p.Tyr563Ter)
c.289C>A
c.1527C>A (p.Tyr509Ter)
n.208C>A
n.1066+632G>T
c.1692C>A (p.Tyr564Ter)
c.1596C>A (p.Tyr532Ter)
c.1422C>A (p.Tyr474Ter)
c.1644C>A (p.Tyr548Ter)
4g.186287796C>GCA358945696F11,F11-AS1c.1689C>G (p.Tyr563Ter)
c.289C>G
c.1527C>G (p.Tyr509Ter)
n.208C>G
n.1066+632G>C
c.1692C>G (p.Tyr564Ter)
c.1596C>G (p.Tyr532Ter)
c.1422C>G (p.Tyr474Ter)
c.1644C>G (p.Tyr548Ter)
4g.186287796C>TCA442641168F11,F11-AS1c.1689C>T (p.Tyr563=)
c.289C>T
c.1527C>T (p.Tyr509=)
n.208C>T
n.1066+632G>A
c.1692C>T (p.Tyr564=)
c.1596C>T (p.Tyr532=)
c.1422C>T (p.Tyr474=)
c.1644C>T (p.Tyr548=)
 gnomAD v4
4g.186287797A>CCA442641169F11,F11-AS1c.1690A>C (p.Arg564=)
c.290A>C
c.1528A>C (p.Arg510=)
n.209A>C
n.1066+631T>G
c.1693A>C (p.Arg565=)
c.1597A>C (p.Arg533=)
c.1423A>C (p.Arg475=)
c.1645A>C (p.Arg549=)
4g.186287797A>GCA358945697F11,F11-AS1c.1690A>G (p.Arg564Gly)
c.290A>G
c.1528A>G (p.Arg510Gly)
n.209A>G
n.1066+631T>C
c.1693A>G (p.Arg565Gly)
c.1597A>G (p.Arg533Gly)
c.1423A>G (p.Arg475Gly)
c.1645A>G (p.Arg549Gly)
4g.186287797A>TCA358945698F11,F11-AS1c.1690A>T (p.Arg564Trp)
c.290A>T
c.1528A>T (p.Arg510Trp)
n.209A>T
n.1066+631T>A
c.1693A>T (p.Arg565Trp)
c.1597A>T (p.Arg533Trp)
c.1423A>T (p.Arg475Trp)
c.1645A>T (p.Arg549Trp)
4g.186287798G>ACA358945699F11,F11-AS1c.1691G>A (p.Arg564Lys)
c.291G>A
c.1529G>A (p.Arg510Lys)
n.210G>A
n.1066+630C>T
c.1694G>A (p.Arg565Lys)
c.1598G>A (p.Arg533Lys)
c.1424G>A (p.Arg475Lys)
c.1646G>A (p.Arg549Lys)
4g.186287798G>CCA358945700F11,F11-AS1c.1691G>C (p.Arg564Thr)
c.291G>C
c.1529G>C (p.Arg510Thr)
n.210G>C
n.1066+630C>G
c.1694G>C (p.Arg565Thr)
c.1598G>C (p.Arg533Thr)
c.1424G>C (p.Arg475Thr)
c.1646G>C (p.Arg549Thr)
4g.186287798G>TCA358945701F11,F11-AS1c.1691G>T (p.Arg564Met)
c.291G>T
c.1529G>T (p.Arg510Met)
n.210G>T
n.1066+630C>A
c.1694G>T (p.Arg565Met)
c.1598G>T (p.Arg533Met)
c.1424G>T (p.Arg475Met)
c.1646G>T (p.Arg549Met)
4g.186287799G>ACA442641171F11,F11-AS1c.1692G>A (p.Arg564=)
c.292G>A
c.1530G>A (p.Arg510=)
n.211G>A
n.1066+629C>T
c.1695G>A (p.Arg565=)
c.1599G>A (p.Arg533=)
c.1425G>A (p.Arg475=)
c.1647G>A (p.Arg549=)
 dbSNP
4g.186287799G>CCA358945702F11,F11-AS1c.1692G>C (p.Arg564Ser)
c.292G>C
c.1530G>C (p.Arg510Ser)
n.211G>C
n.1066+629C>G
c.1695G>C (p.Arg565Ser)
c.1599G>C (p.Arg533Ser)
c.1425G>C (p.Arg475Ser)
c.1647G>C (p.Arg549Ser)
4g.186287799G=CA1519939443F11,F11-AS1c.1692G= (p.Arg564=)
c.292G=
c.1530G= (p.Arg510=)
n.211G=
n.1066+629C=
c.1695G= (p.Arg565=)
c.1599G= (p.Arg533=)
c.1425G= (p.Arg475=)
c.1647G= (p.Arg549=)
4g.186287799G>TCA358945703F11,F11-AS1c.1692G>T (p.Arg564Ser)
c.292G>T
c.1530G>T (p.Arg510Ser)
n.211G>T
n.1066+629C>A
c.1695G>T (p.Arg565Ser)
c.1599G>T (p.Arg533Ser)
c.1425G>T (p.Arg475Ser)
c.1647G>T (p.Arg549Ser)
4g.186287800G>ACA199064F11,F11-AS1c.1693G>A (p.Glu565Lys)
c.293G>A
c.1531G>A (p.Glu511Lys)
n.212G>A
n.1066+628C>T
c.1696G>A (p.Glu566Lys)
c.1600G>A (p.Glu534Lys)
c.1426G>A (p.Glu476Lys)
c.1648G>A (p.Glu550Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186287800G>CCA358945704F11,F11-AS1c.1693G>C (p.Glu565Gln)
c.293G>C
c.1531G>C (p.Glu511Gln)
n.212G>C
n.1066+628C>G
c.1696G>C (p.Glu566Gln)
c.1600G>C (p.Glu534Gln)
c.1426G>C (p.Glu476Gln)
c.1648G>C (p.Glu550Gln)
4g.186287800G=CA1519939444F11,F11-AS1c.1693G= (p.Glu565=)
c.293G=
c.1531G= (p.Glu511=)
n.212G=
n.1066+628C=
c.1696G= (p.Glu566=)
c.1600G= (p.Glu534=)
c.1426G= (p.Glu476=)
c.1648G= (p.Glu550=)
4g.186287800G>TCA358945705F11,F11-AS1c.1693G>T (p.Glu565Ter)
c.293G>T
c.1531G>T (p.Glu511Ter)
n.212G>T
n.1066+628C>A
c.1696G>T (p.Glu566Ter)
c.1600G>T (p.Glu534Ter)
c.1426G>T (p.Glu476Ter)
c.1648G>T (p.Glu550Ter)
4g.186287801A>CCA358945706F11,F11-AS1c.1694A>C (p.Glu565Ala)
c.294A>C
c.1532A>C (p.Glu511Ala)
n.213A>C
n.1066+627T>G
c.1697A>C (p.Glu566Ala)
c.1601A>C (p.Glu534Ala)
c.1427A>C (p.Glu476Ala)
c.1649A>C (p.Glu550Ala)
4g.186287801A>GCA358945707F11,F11-AS1c.1694A>G (p.Glu565Gly)
c.294A>G
c.1532A>G (p.Glu511Gly)
n.213A>G
n.1066+627T>C
c.1697A>G (p.Glu566Gly)
c.1601A>G (p.Glu534Gly)
c.1427A>G (p.Glu476Gly)
c.1649A>G (p.Glu550Gly)
4g.186287801A>TCA358945708F11,F11-AS1c.1694A>T (p.Glu565Val)
c.294A>T
c.1532A>T (p.Glu511Val)
n.213A>T
n.1066+627T>A
c.1697A>T (p.Glu566Val)
c.1601A>T (p.Glu534Val)
c.1427A>T (p.Glu476Val)
c.1649A>T (p.Glu550Val)
4g.186287802A>CCA358945709F11,F11-AS1c.1695A>C (p.Glu565Asp)
c.295A>C
c.1533A>C (p.Glu511Asp)
n.214A>C
n.1066+626T>G
c.1698A>C (p.Glu566Asp)
c.1602A>C (p.Glu534Asp)
c.1428A>C (p.Glu476Asp)
c.1650A>C (p.Glu550Asp)
4g.186287802A>GCA442641172F11,F11-AS1c.1695A>G (p.Glu565=)
c.295A>G
c.1533A>G (p.Glu511=)
n.214A>G
n.1066+626T>C
c.1698A>G (p.Glu566=)
c.1602A>G (p.Glu534=)
c.1428A>G (p.Glu476=)
c.1650A>G (p.Glu550=)

Number of alleles fetched