Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186288446G>ACA3164104F11,F11-AS1c.1717-7G>A (n.1717-7G>A)
c.317-7G>A
c.1555-7G>A (n.1555-7G>A)
n.236-7G>A
n.1048C>T
c.1720-7G>A (n.1720-7G>A)
c.1624-7G>A (n.1624-7G>A)
c.1450-7G>A (n.1450-7G>A)
c.1672-7G>A (n.1672-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288446G>CCA442641317F11,F11-AS1c.1717-7G>C (n.1717-7G>C)
c.317-7G>C
c.1555-7G>C (n.1555-7G>C)
n.236-7G>C
n.1048C>G
c.1720-7G>C (n.1720-7G>C)
c.1624-7G>C (n.1624-7G>C)
c.1450-7G>C (n.1450-7G>C)
c.1672-7G>C (n.1672-7G>C)
 dbSNP gnomAD v4
4g.186288446G=CA1519939796F11,F11-AS1c.1717-7G= (n.1717-7G=)
c.317-7G=
c.1555-7G= (n.1555-7G=)
n.236-7G=
n.1048C=
c.1720-7G= (n.1720-7G=)
c.1624-7G= (n.1624-7G=)
c.1450-7G= (n.1450-7G=)
c.1672-7G= (n.1672-7G=)
4g.186288446G>TCA442641318F11,F11-AS1c.1717-7G>T (n.1717-7G>T)
c.317-7G>T
c.1555-7G>T (n.1555-7G>T)
n.236-7G>T
n.1048C>A
c.1720-7G>T (n.1720-7G>T)
c.1624-7G>T (n.1624-7G>T)
c.1450-7G>T (n.1450-7G>T)
c.1672-7G>T (n.1672-7G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186288447T>ACA442641319F11,F11-AS1c.1717-6T>A (n.1717-6T>A)
c.317-6T>A
c.1555-6T>A (n.1555-6T>A)
n.236-6T>A
n.1047A>T
c.1720-6T>A (n.1720-6T>A)
c.1624-6T>A (n.1624-6T>A)
c.1450-6T>A (n.1450-6T>A)
c.1672-6T>A (n.1672-6T>A)
4g.186288447T>CCA442641320F11,F11-AS1c.1717-6T>C (n.1717-6T>C)
c.317-6T>C
c.1555-6T>C (n.1555-6T>C)
n.236-6T>C
n.1047A>G
c.1720-6T>C (n.1720-6T>C)
c.1624-6T>C (n.1624-6T>C)
c.1450-6T>C (n.1450-6T>C)
c.1672-6T>C (n.1672-6T>C)
4g.186288447T>GCA442641321F11,F11-AS1c.1717-6T>G (n.1717-6T>G)
c.317-6T>G
c.1555-6T>G (n.1555-6T>G)
n.236-6T>G
n.1047A>C
c.1720-6T>G (n.1720-6T>G)
c.1624-6T>G (n.1624-6T>G)
c.1450-6T>G (n.1450-6T>G)
c.1672-6T>G (n.1672-6T>G)
4g.186288448T>ACA442641322F11,F11-AS1c.1717-5T>A (n.1717-5T>A)
c.317-5T>A
c.1555-5T>A (n.1555-5T>A)
n.236-5T>A
n.1046A>T
c.1720-5T>A (n.1720-5T>A)
c.1624-5T>A (n.1624-5T>A)
c.1450-5T>A (n.1450-5T>A)
c.1672-5T>A (n.1672-5T>A)
4g.186288448T>CCA442641323F11,F11-AS1c.1717-5T>C (n.1717-5T>C)
c.317-5T>C
c.1555-5T>C (n.1555-5T>C)
n.236-5T>C
n.1046A>G
c.1720-5T>C (n.1720-5T>C)
c.1624-5T>C (n.1624-5T>C)
c.1450-5T>C (n.1450-5T>C)
c.1672-5T>C (n.1672-5T>C)
4g.186288448T>GCA442641324F11,F11-AS1c.1717-5T>G (n.1717-5T>G)
c.317-5T>G
c.1555-5T>G (n.1555-5T>G)
n.236-5T>G
n.1046A>C
c.1720-5T>G (n.1720-5T>G)
c.1624-5T>G (n.1624-5T>G)
c.1450-5T>G (n.1450-5T>G)
c.1672-5T>G (n.1672-5T>G)
4g.186288449C>ACA442641327F11,F11-AS1c.1717-4C>A (n.1717-4C>A)
c.317-4C>A
c.1555-4C>A (n.1555-4C>A)
n.236-4C>A
n.1045G>T
c.1720-4C>A (n.1720-4C>A)
c.1624-4C>A (n.1624-4C>A)
c.1450-4C>A (n.1450-4C>A)
c.1672-4C>A (n.1672-4C>A)
4g.186288449C>GCA442641326F11,F11-AS1c.1717-4C>G (n.1717-4C>G)
c.317-4C>G
c.1555-4C>G (n.1555-4C>G)
n.236-4C>G
n.1045G>C
c.1720-4C>G (n.1720-4C>G)
c.1624-4C>G (n.1624-4C>G)
c.1450-4C>G (n.1450-4C>G)
c.1672-4C>G (n.1672-4C>G)
 gnomAD v4
4g.186288449C>TCA442641325F11,F11-AS1c.1717-4C>T (n.1717-4C>T)
c.317-4C>T
c.1555-4C>T (n.1555-4C>T)
n.236-4C>T
n.1045G>A
c.1720-4C>T (n.1720-4C>T)
c.1624-4C>T (n.1624-4C>T)
c.1450-4C>T (n.1450-4C>T)
c.1672-4C>T (n.1672-4C>T)
 ClinVar
4g.186288450T>ACA442641328F11,F11-AS1c.1717-3T>A (n.1717-3T>A)
c.317-3T>A
c.1555-3T>A (n.1555-3T>A)
n.236-3T>A
n.1044A>T
c.1720-3T>A (n.1720-3T>A)
c.1624-3T>A (n.1624-3T>A)
c.1450-3T>A (n.1450-3T>A)
c.1672-3T>A (n.1672-3T>A)
4g.186288450T>CCA442641329F11,F11-AS1c.1717-3T>C (n.1717-3T>C)
c.317-3T>C
c.1555-3T>C (n.1555-3T>C)
n.236-3T>C
n.1044A>G
c.1720-3T>C (n.1720-3T>C)
c.1624-3T>C (n.1624-3T>C)
c.1450-3T>C (n.1450-3T>C)
c.1672-3T>C (n.1672-3T>C)
 gnomAD v4
4g.186288450T>GCA442641330F11,F11-AS1c.1717-3T>G (n.1717-3T>G)
c.317-3T>G
c.1555-3T>G (n.1555-3T>G)
n.236-3T>G
n.1044A>C
c.1720-3T>G (n.1720-3T>G)
c.1624-3T>G (n.1624-3T>G)
c.1450-3T>G (n.1450-3T>G)
c.1672-3T>G (n.1672-3T>G)
4g.186288451A>CCA358945791F11,F11-AS1c.1717-2A>C (n.1717-2A>C)
c.317-2A>C
c.1555-2A>C (n.1555-2A>C)
n.236-2A>C
n.1043T>G
c.1720-2A>C (n.1720-2A>C)
c.1624-2A>C (n.1624-2A>C)
c.1450-2A>C (n.1450-2A>C)
c.1672-2A>C (n.1672-2A>C)
4g.186288451A>GCA358945793F11,F11-AS1c.1717-2A>G (n.1717-2A>G)
c.317-2A>G
c.1555-2A>G (n.1555-2A>G)
n.236-2A>G
n.1043T>C
c.1720-2A>G (n.1720-2A>G)
c.1624-2A>G (n.1624-2A>G)
c.1450-2A>G (n.1450-2A>G)
c.1672-2A>G (n.1672-2A>G)
4g.186288451A>TCA358945794F11,F11-AS1c.1717-2A>T (n.1717-2A>T)
c.317-2A>T
c.1555-2A>T (n.1555-2A>T)
n.236-2A>T
n.1043T>A
c.1720-2A>T (n.1720-2A>T)
c.1624-2A>T (n.1624-2A>T)
c.1450-2A>T (n.1450-2A>T)
c.1672-2A>T (n.1672-2A>T)
4g.186288452G>ACA358945797F11,F11-AS1c.1717-1G>A (n.1717-1G>A)
c.317-1G>A
c.1555-1G>A (n.1555-1G>A)
n.236-1G>A
n.1042C>T
c.1720-1G>A (n.1720-1G>A)
c.1624-1G>A (n.1624-1G>A)
c.1450-1G>A (n.1450-1G>A)
c.1672-1G>A (n.1672-1G>A)
 gnomAD v4
4g.186288452G>CCA358945798F11,F11-AS1c.1717-1G>C (n.1717-1G>C)
c.317-1G>C
c.1555-1G>C (n.1555-1G>C)
n.236-1G>C
n.1042C>G
c.1720-1G>C (n.1720-1G>C)
c.1624-1G>C (n.1624-1G>C)
c.1450-1G>C (n.1450-1G>C)
c.1672-1G>C (n.1672-1G>C)
 gnomAD v4
4g.186288452G>TCA358945799F11,F11-AS1c.1717-1G>T (n.1717-1G>T)
c.317-1G>T
c.1555-1G>T (n.1555-1G>T)
n.236-1G>T
n.1042C>A
c.1720-1G>T (n.1720-1G>T)
c.1624-1G>T (n.1624-1G>T)
c.1450-1G>T (n.1450-1G>T)
c.1672-1G>T (n.1672-1G>T)
4g.186288454delCA2672904049F11,F11-AS1c.1718del
c.318del
c.1556del
n.237del
n.1042del
c.1721del
c.1625del
c.1451del
c.1673del
 gnomAD v4
4g.186288453G>ACA358945802F11,F11-AS1c.1717G>A (p.Gly573Arg)
c.317G>A
c.1555G>A (p.Gly519Arg)
n.236G>A
n.1041C>T
c.1720G>A (p.Gly574Arg)
c.1624G>A (p.Gly542Arg)
c.1450G>A (p.Gly484Arg)
c.1672G>A (p.Gly558Arg)
4g.186288453G>CCA358945804F11,F11-AS1c.1717G>C (p.Gly573Arg)
c.317G>C
c.1555G>C (p.Gly519Arg)
n.236G>C
n.1041C>G
c.1720G>C (p.Gly574Arg)
c.1624G>C (p.Gly542Arg)
c.1450G>C (p.Gly484Arg)
c.1672G>C (p.Gly558Arg)
4g.186288453G>TCA358945807F11,F11-AS1c.1717G>T (p.Gly573Ter)
c.317G>T
c.1555G>T (p.Gly519Ter)
n.236G>T
n.1041C>A
c.1720G>T (p.Gly574Ter)
c.1624G>T (p.Gly542Ter)
c.1450G>T (p.Gly484Ter)
c.1672G>T (p.Gly558Ter)
4g.186288454G>ACA3164105F11,F11-AS1c.1718G>A (p.Gly573Glu)
c.318G>A
c.1556G>A (p.Gly519Glu)
n.237G>A
n.1040C>T
c.1721G>A (p.Gly574Glu)
c.1625G>A (p.Gly542Glu)
c.1451G>A (p.Gly484Glu)
c.1673G>A (p.Gly558Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.186288454G>CCA358945812F11,F11-AS1c.1718G>C (p.Gly573Ala)
c.318G>C
c.1556G>C (p.Gly519Ala)
n.237G>C
n.1040C>G
c.1721G>C (p.Gly574Ala)
c.1625G>C (p.Gly542Ala)
c.1451G>C (p.Gly484Ala)
c.1673G>C (p.Gly558Ala)
4g.186288454G=CA1519939797F11,F11-AS1c.1718G= (p.Gly573=)
c.318G=
c.1556G= (p.Gly519=)
n.237G=
n.1040C=
c.1721G= (p.Gly574=)
c.1625G= (p.Gly542=)
c.1451G= (p.Gly484=)
c.1673G= (p.Gly558=)
4g.186288454G>TCA358945810F11,F11-AS1c.1718G>T (p.Gly573Val)
c.318G>T
c.1556G>T (p.Gly519Val)
n.237G>T
n.1040C>A
c.1721G>T (p.Gly574Val)
c.1625G>T (p.Gly542Val)
c.1451G>T (p.Gly484Val)
c.1673G>T (p.Gly558Val)
 dbSNP
4g.186288455A>CCA442641335F11,F11-AS1c.1719A>C (p.Gly573=)
c.319A>C
c.1557A>C (p.Gly519=)
n.238A>C
n.1039T>G
c.1722A>C (p.Gly574=)
c.1626A>C (p.Gly542=)
c.1452A>C (p.Gly484=)
c.1674A>C (p.Gly558=)
4g.186288455A>GCA442641337F11,F11-AS1c.1719A>G (p.Gly573=)
c.319A>G
c.1557A>G (p.Gly519=)
n.238A>G
n.1039T>C
c.1722A>G (p.Gly574=)
c.1626A>G (p.Gly542=)
c.1452A>G (p.Gly484=)
c.1674A>G (p.Gly558=)
4g.186288455A>TCA442641336F11,F11-AS1c.1719A>T (p.Gly573=)
c.319A>T
c.1557A>T (p.Gly519=)
n.238A>T
n.1039T>A
c.1722A>T (p.Gly574=)
c.1626A>T (p.Gly542=)
c.1452A>T (p.Gly484=)
c.1674A>T (p.Gly558=)
4g.186288456G>ACA358945821F11,F11-AS1c.1720G>A (p.Asp574Asn)
c.320G>A
c.1558G>A (p.Asp520Asn)
n.239G>A
n.1038C>T
c.1723G>A (p.Asp575Asn)
c.1627G>A (p.Asp543Asn)
c.1453G>A (p.Asp485Asn)
c.1675G>A (p.Asp559Asn)
4g.186288456G>CCA358945815F11,F11-AS1c.1720G>C (p.Asp574His)
c.320G>C
c.1558G>C (p.Asp520His)
n.239G>C
n.1038C>G
c.1723G>C (p.Asp575His)
c.1627G>C (p.Asp543His)
c.1453G>C (p.Asp485His)
c.1675G>C (p.Asp559His)
4g.186288456G=CA1519939798F11,F11-AS1c.1720G= (p.Asp574=)
c.320G=
c.1558G= (p.Asp520=)
n.239G=
n.1038C=
c.1723G= (p.Asp575=)
c.1627G= (p.Asp543=)
c.1453G= (p.Asp485=)
c.1675G= (p.Asp559=)
4g.186288456G>TCA3164106F11,F11-AS1c.1720G>T (p.Asp574Tyr)
c.320G>T
c.1558G>T (p.Asp520Tyr)
n.239G>T
n.1038C>A
c.1723G>T (p.Asp575Tyr)
c.1627G>T (p.Asp543Tyr)
c.1453G>T (p.Asp485Tyr)
c.1675G>T (p.Asp559Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288457A>CCA358945823F11,F11-AS1c.1721A>C (p.Asp574Ala)
c.321A>C
c.1559A>C (p.Asp520Ala)
n.240A>C
n.1037T>G
c.1724A>C (p.Asp575Ala)
c.1628A>C (p.Asp543Ala)
c.1454A>C (p.Asp485Ala)
c.1676A>C (p.Asp559Ala)
4g.186288457A>GCA358945825F11,F11-AS1c.1721A>G (p.Asp574Gly)
c.321A>G
c.1559A>G (p.Asp520Gly)
n.240A>G
n.1037T>C
c.1724A>G (p.Asp575Gly)
c.1628A>G (p.Asp543Gly)
c.1454A>G (p.Asp485Gly)
c.1676A>G (p.Asp559Gly)
4g.186288457A>TCA358945827F11,F11-AS1c.1721A>T (p.Asp574Val)
c.321A>T
c.1559A>T (p.Asp520Val)
n.240A>T
n.1037T>A
c.1724A>T (p.Asp575Val)
c.1628A>T (p.Asp543Val)
c.1454A>T (p.Asp485Val)
c.1676A>T (p.Asp559Val)
4g.186288458T>ACA358945829F11,F11-AS1c.1722T>A (p.Asp574Glu)
c.322T>A
c.1560T>A (p.Asp520Glu)
n.241T>A
n.1036A>T
c.1725T>A (p.Asp575Glu)
c.1629T>A (p.Asp543Glu)
c.1455T>A (p.Asp485Glu)
c.1677T>A (p.Asp559Glu)
 gnomAD v4
4g.186288458T>CCA442641338F11,F11-AS1c.1722T>C (p.Asp574=)
c.322T>C
c.1560T>C (p.Asp520=)
n.241T>C
n.1036A>G
c.1725T>C (p.Asp575=)
c.1629T>C (p.Asp543=)
c.1455T>C (p.Asp485=)
c.1677T>C (p.Asp559=)
 dbSNP
4g.186288458T>GCA358945830F11,F11-AS1c.1722T>G (p.Asp574Glu)
c.322T>G
c.1560T>G (p.Asp520Glu)
n.241T>G
n.1036A>C
c.1725T>G (p.Asp575Glu)
c.1629T>G (p.Asp543Glu)
c.1455T>G (p.Asp485Glu)
c.1677T>G (p.Asp559Glu)
4g.186288459T>ACA358945831F11,F11-AS1c.1723T>A (p.Ser575Thr)
c.323T>A
c.1561T>A (p.Ser521Thr)
n.242T>A
n.1035A>T
c.1726T>A (p.Ser576Thr)
c.1630T>A (p.Ser544Thr)
c.1456T>A (p.Ser486Thr)
c.1678T>A (p.Ser560Thr)
4g.186288459T>CCA358945835F11,F11-AS1c.1723T>C (p.Ser575Pro)
c.323T>C
c.1561T>C (p.Ser521Pro)
n.242T>C
n.1035A>G
c.1726T>C (p.Ser576Pro)
c.1630T>C (p.Ser544Pro)
c.1456T>C (p.Ser486Pro)
c.1678T>C (p.Ser560Pro)
4g.186288459T>GCA358945833F11,F11-AS1c.1723T>G (p.Ser575Ala)
c.323T>G
c.1561T>G (p.Ser521Ala)
n.242T>G
n.1035A>C
c.1726T>G (p.Ser576Ala)
c.1630T>G (p.Ser544Ala)
c.1456T>G (p.Ser486Ala)
c.1678T>G (p.Ser560Ala)
4g.186288460C>ACA358945837F11,F11-AS1c.1724C>A (p.Ser575Ter)
c.324C>A
c.1562C>A (p.Ser521Ter)
n.243C>A
n.1034G>T
c.1727C>A (p.Ser576Ter)
c.1631C>A (p.Ser544Ter)
c.1457C>A (p.Ser486Ter)
c.1679C>A (p.Ser560Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186288460C=CA1519939799F11,F11-AS1c.1724C= (p.Ser575=)
c.324C=
c.1562C= (p.Ser521=)
n.243C=
n.1034G=
c.1727C= (p.Ser576=)
c.1631C= (p.Ser544=)
c.1457C= (p.Ser486=)
c.1679C= (p.Ser560=)
4g.186288460C>GCA358945839F11,F11-AS1c.1724C>G (p.Ser575Trp)
c.324C>G
c.1562C>G (p.Ser521Trp)
n.243C>G
n.1034G>C
c.1727C>G (p.Ser576Trp)
c.1631C>G (p.Ser544Trp)
c.1457C>G (p.Ser486Trp)
c.1679C>G (p.Ser560Trp)
4g.186288460C>TCA219128F11,F11-AS1c.1724C>T (p.Ser575Leu)
c.324C>T
c.1562C>T (p.Ser521Leu)
n.243C>T
n.1034G>A
c.1727C>T (p.Ser576Leu)
c.1631C>T (p.Ser544Leu)
c.1457C>T (p.Ser486Leu)
c.1679C>T (p.Ser560Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.186288461G>ACA3164107F11,F11-AS1c.1725G>A (p.Ser575=)
c.325G>A
c.1563G>A (p.Ser521=)
n.244G>A
n.1033C>T
c.1728G>A (p.Ser576=)
c.1632G>A (p.Ser544=)
c.1458G>A (p.Ser486=)
c.1680G>A (p.Ser560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288461G>CCA442641340F11,F11-AS1c.1725G>C (p.Ser575=)
c.325G>C
c.1563G>C (p.Ser521=)
n.244G>C
n.1033C>G
c.1728G>C (p.Ser576=)
c.1632G>C (p.Ser544=)
c.1458G>C (p.Ser486=)
c.1680G>C (p.Ser560=)
 ClinVar
4g.186288461G=CA1519939800F11,F11-AS1c.1725G= (p.Ser575=)
c.325G=
c.1563G= (p.Ser521=)
n.244G=
n.1033C=
c.1728G= (p.Ser576=)
c.1632G= (p.Ser544=)
c.1458G= (p.Ser486=)
c.1680G= (p.Ser560=)
4g.186288461G>TCA442641339F11,F11-AS1c.1725G>T (p.Ser575=)
c.325G>T
c.1563G>T (p.Ser521=)
n.244G>T
n.1033C>A
c.1728G>T (p.Ser576=)
c.1632G>T (p.Ser544=)
c.1458G>T (p.Ser486=)
c.1680G>T (p.Ser560=)
 COSMIC
4g.186288462G>ACA358945843F11,F11-AS1c.1726G>A (p.Gly576Arg)
c.326G>A
c.1564G>A (p.Gly522Arg)
n.245G>A
n.1032C>T
c.1729G>A (p.Gly577Arg)
c.1633G>A (p.Gly545Arg)
c.1459G>A (p.Gly487Arg)
c.1681G>A (p.Gly561Arg)
4g.186288462G>CCA358945846F11,F11-AS1c.1726G>C (p.Gly576Arg)
c.326G>C
c.1564G>C (p.Gly522Arg)
n.245G>C
n.1032C>G
c.1729G>C (p.Gly577Arg)
c.1633G>C (p.Gly545Arg)
c.1459G>C (p.Gly487Arg)
c.1681G>C (p.Gly561Arg)
4g.186288462G>TCA358945844F11,F11-AS1c.1726G>T (p.Gly576Ter)
c.326G>T
c.1564G>T (p.Gly522Ter)
n.245G>T
n.1032C>A
c.1729G>T (p.Gly577Ter)
c.1633G>T (p.Gly545Ter)
c.1459G>T (p.Gly487Ter)
c.1681G>T (p.Gly561Ter)
 ClinVar
4g.186288463G>ACA3164108F11,F11-AS1c.1727G>A (p.Gly576Glu)
c.327G>A
c.1565G>A (p.Gly522Glu)
n.246G>A
n.1031C>T
c.1730G>A (p.Gly577Glu)
c.1634G>A (p.Gly545Glu)
c.1460G>A (p.Gly487Glu)
c.1682G>A (p.Gly561Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288463G>CCA358945850F11,F11-AS1c.1727G>C (p.Gly576Ala)
c.327G>C
c.1565G>C (p.Gly522Ala)
n.246G>C
n.1031C>G
c.1730G>C (p.Gly577Ala)
c.1634G>C (p.Gly545Ala)
c.1460G>C (p.Gly487Ala)
c.1682G>C (p.Gly561Ala)
 gnomAD v4
4g.186288463G=CA1519939801F11,F11-AS1c.1727G= (p.Gly576=)
c.327G=
c.1565G= (p.Gly522=)
n.246G=
n.1031C=
c.1730G= (p.Gly577=)
c.1634G= (p.Gly545=)
c.1460G= (p.Gly487=)
c.1682G= (p.Gly561=)
4g.186288463G>TCA358945851F11,F11-AS1c.1727G>T (p.Gly576Val)
c.327G>T
c.1565G>T (p.Gly522Val)
n.246G>T
n.1031C>A
c.1730G>T (p.Gly577Val)
c.1634G>T (p.Gly545Val)
c.1460G>T (p.Gly487Val)
c.1682G>T (p.Gly561Val)
4g.186288464A=CA1519939802F11,F11-AS1c.1728A= (p.Gly576=)
c.328A=
c.1566A= (p.Gly522=)
n.247A=
n.1030T=
c.1731A= (p.Gly577=)
c.1635A= (p.Gly545=)
c.1461A= (p.Gly487=)
c.1683A= (p.Gly561=)
4g.186288464A>CCA442641341F11,F11-AS1c.1728A>C (p.Gly576=)
c.328A>C
c.1566A>C (p.Gly522=)
n.247A>C
n.1030T>G
c.1731A>C (p.Gly577=)
c.1635A>C (p.Gly545=)
c.1461A>C (p.Gly487=)
c.1683A>C (p.Gly561=)
4g.186288464A>GCA442641342F11,F11-AS1c.1728A>G (p.Gly576=)
c.328A>G
c.1566A>G (p.Gly522=)
n.247A>G
n.1030T>C
c.1731A>G (p.Gly577=)
c.1635A>G (p.Gly545=)
c.1461A>G (p.Gly487=)
c.1683A>G (p.Gly561=)
4g.186288464A>TCA3164109F11,F11-AS1c.1728A>T (p.Gly576=)
c.328A>T
c.1566A>T (p.Gly522=)
n.247A>T
n.1030T>A
c.1731A>T (p.Gly577=)
c.1635A>T (p.Gly545=)
c.1461A>T (p.Gly487=)
c.1683A>T (p.Gly561=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288465G>ACA112106166F11,F11-AS1c.1729G>A (p.Gly577Ser)
c.329G>A
c.1567G>A (p.Gly523Ser)
n.248G>A
n.1029C>T
c.1732G>A (p.Gly578Ser)
c.1636G>A (p.Gly546Ser)
c.1462G>A (p.Gly488Ser)
c.1684G>A (p.Gly562Ser)
 dbSNP
4g.186288465G>CCA358945854F11,F11-AS1c.1729G>C (p.Gly577Arg)
c.329G>C
c.1567G>C (p.Gly523Arg)
n.248G>C
n.1029C>G
c.1732G>C (p.Gly578Arg)
c.1636G>C (p.Gly546Arg)
c.1462G>C (p.Gly488Arg)
c.1684G>C (p.Gly562Arg)
4g.186288465G=CA1519939803F11,F11-AS1c.1729G= (p.Gly577=)
c.329G=
c.1567G= (p.Gly523=)
n.248G=
n.1029C=
c.1732G= (p.Gly578=)
c.1636G= (p.Gly546=)
c.1462G= (p.Gly488=)
c.1684G= (p.Gly562=)
4g.186288465G>TCA358945856F11,F11-AS1c.1729G>T (p.Gly577Cys)
c.329G>T
c.1567G>T (p.Gly523Cys)
n.248G>T
n.1029C>A
c.1732G>T (p.Gly578Cys)
c.1636G>T (p.Gly546Cys)
c.1462G>T (p.Gly488Cys)
c.1684G>T (p.Gly562Cys)
4g.186288466G>ACA358945857F11,F11-AS1c.1730G>A (p.Gly577Asp)
c.330G>A
c.1568G>A (p.Gly523Asp)
n.249G>A
n.1028C>T
c.1733G>A (p.Gly578Asp)
c.1637G>A (p.Gly546Asp)
c.1463G>A (p.Gly488Asp)
c.1685G>A (p.Gly562Asp)
 gnomAD v4
4g.186288466G>CCA358945859F11,F11-AS1c.1730G>C (p.Gly577Ala)
c.330G>C
c.1568G>C (p.Gly523Ala)
n.249G>C
n.1028C>G
c.1733G>C (p.Gly578Ala)
c.1637G>C (p.Gly546Ala)
c.1463G>C (p.Gly488Ala)
c.1685G>C (p.Gly562Ala)
4g.186288466G>TCA358945860F11,F11-AS1c.1730G>T (p.Gly577Val)
c.330G>T
c.1568G>T (p.Gly523Val)
n.249G>T
n.1028C>A
c.1733G>T (p.Gly578Val)
c.1637G>T (p.Gly546Val)
c.1463G>T (p.Gly488Val)
c.1685G>T (p.Gly562Val)
4g.186288467C>ACA442641343F11,F11-AS1c.1731C>A (p.Gly577=)
c.331C>A
c.1569C>A (p.Gly523=)
n.250C>A
n.1027G>T
c.1734C>A (p.Gly578=)
c.1638C>A (p.Gly546=)
c.1464C>A (p.Gly488=)
c.1686C>A (p.Gly562=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288467C=CA1519939804F11,F11-AS1c.1731C= (p.Gly577=)
c.331C=
c.1569C= (p.Gly523=)
n.250C=
n.1027G=
c.1734C= (p.Gly578=)
c.1638C= (p.Gly546=)
c.1464C= (p.Gly488=)
c.1686C= (p.Gly562=)
4g.186288467C>GCA442641344F11,F11-AS1c.1731C>G (p.Gly577=)
c.331C>G
c.1569C>G (p.Gly523=)
n.250C>G
n.1027G>C
c.1734C>G (p.Gly578=)
c.1638C>G (p.Gly546=)
c.1464C>G (p.Gly488=)
c.1686C>G (p.Gly562=)
4g.186288467C>TCA3164110F11,F11-AS1c.1731C>T (p.Gly577=)
c.331C>T
c.1569C>T (p.Gly523=)
n.250C>T
n.1027G>A
c.1734C>T (p.Gly578=)
c.1638C>T (p.Gly546=)
c.1464C>T (p.Gly488=)
c.1686C>T (p.Gly562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288468C>ACA358945865F11,F11-AS1c.1732C>A (p.Pro578Thr)
c.332C>A
c.1570C>A (p.Pro524Thr)
n.251C>A
n.1026G>T
c.1735C>A (p.Pro579Thr)
c.1639C>A (p.Pro547Thr)
c.1465C>A (p.Pro489Thr)
c.1687C>A (p.Pro563Thr)
4g.186288468C>GCA358945866F11,F11-AS1c.1732C>G (p.Pro578Ala)
c.332C>G
c.1570C>G (p.Pro524Ala)
n.251C>G
n.1026G>C
c.1735C>G (p.Pro579Ala)
c.1639C>G (p.Pro547Ala)
c.1465C>G (p.Pro489Ala)
c.1687C>G (p.Pro563Ala)
4g.186288468C>TCA358945863F11,F11-AS1c.1732C>T (p.Pro578Ser)
c.332C>T
c.1570C>T (p.Pro524Ser)
n.251C>T
n.1026G>A
c.1735C>T (p.Pro579Ser)
c.1639C>T (p.Pro547Ser)
c.1465C>T (p.Pro489Ser)
c.1687C>T (p.Pro563Ser)
4g.186288469C>ACA358945867F11,F11-AS1c.1733C>A (p.Pro578His)
c.333C>A
c.1571C>A (p.Pro524His)
n.252C>A
n.1025G>T
c.1736C>A (p.Pro579His)
c.1640C>A (p.Pro547His)
c.1466C>A (p.Pro489His)
c.1688C>A (p.Pro563His)
4g.186288469C>GCA358945870F11,F11-AS1c.1733C>G (p.Pro578Arg)
c.333C>G
c.1571C>G (p.Pro524Arg)
n.252C>G
n.1025G>C
c.1736C>G (p.Pro579Arg)
c.1640C>G (p.Pro547Arg)
c.1466C>G (p.Pro489Arg)
c.1688C>G (p.Pro563Arg)
4g.186288469C>TCA358945869F11,F11-AS1c.1733C>T (p.Pro578Leu)
c.333C>T
c.1571C>T (p.Pro524Leu)
n.252C>T
n.1025G>A
c.1736C>T (p.Pro579Leu)
c.1640C>T (p.Pro547Leu)
c.1466C>T (p.Pro489Leu)
c.1688C>T (p.Pro563Leu)
4g.186288470T>ACA442641345F11,F11-AS1c.1734T>A (p.Pro578=)
c.334T>A
c.1572T>A (p.Pro524=)
n.253T>A
n.1024A>T
c.1737T>A (p.Pro579=)
c.1641T>A (p.Pro547=)
c.1467T>A (p.Pro489=)
c.1689T>A (p.Pro563=)
4g.186288470T>CCA442641346F11,F11-AS1c.1734T>C (p.Pro578=)
c.334T>C
c.1572T>C (p.Pro524=)
n.253T>C
n.1024A>G
c.1737T>C (p.Pro579=)
c.1641T>C (p.Pro547=)
c.1467T>C (p.Pro489=)
c.1689T>C (p.Pro563=)
4g.186288470T>GCA442641347F11,F11-AS1c.1734T>G (p.Pro578=)
c.334T>G
c.1572T>G (p.Pro524=)
n.253T>G
n.1024A>C
c.1737T>G (p.Pro579=)
c.1641T>G (p.Pro547=)
c.1467T>G (p.Pro489=)
c.1689T>G (p.Pro563=)
4g.186288471C>ACA358945872F11,F11-AS1c.1735C>A (p.Leu579Met)
c.335C>A
c.1573C>A (p.Leu525Met)
n.254C>A
n.1023G>T
c.1738C>A (p.Leu580Met)
c.1642C>A (p.Leu548Met)
c.1468C>A (p.Leu490Met)
c.1690C>A (p.Leu564Met)
4g.186288471C>GCA358945874F11,F11-AS1c.1735C>G (p.Leu579Val)
c.335C>G
c.1573C>G (p.Leu525Val)
n.254C>G
n.1023G>C
c.1738C>G (p.Leu580Val)
c.1642C>G (p.Leu548Val)
c.1468C>G (p.Leu490Val)
c.1690C>G (p.Leu564Val)
4g.186288471C>TCA442641348F11,F11-AS1c.1735C>T (p.Leu579=)
c.335C>T
c.1573C>T (p.Leu525=)
n.254C>T
n.1023G>A
c.1738C>T (p.Leu580=)
c.1642C>T (p.Leu548=)
c.1468C>T (p.Leu490=)
c.1690C>T (p.Leu564=)
 ClinVar COSMIC COSMIC
4g.186288472T>ACA358945876F11,F11-AS1c.1736T>A (p.Leu579Gln)
c.336T>A
c.1574T>A (p.Leu525Gln)
n.255T>A
n.1022A>T
c.1739T>A (p.Leu580Gln)
c.1643T>A (p.Leu548Gln)
c.1469T>A (p.Leu490Gln)
c.1691T>A (p.Leu564Gln)
4g.186288472T>CCA358945878F11,F11-AS1c.1736T>C (p.Leu579Pro)
c.336T>C
c.1574T>C (p.Leu525Pro)
n.255T>C
n.1022A>G
c.1739T>C (p.Leu580Pro)
c.1643T>C (p.Leu548Pro)
c.1469T>C (p.Leu490Pro)
c.1691T>C (p.Leu564Pro)
 COSMIC COSMIC
4g.186288472T>GCA358945879F11,F11-AS1c.1736T>G (p.Leu579Arg)
c.336T>G
c.1574T>G (p.Leu525Arg)
n.255T>G
n.1022A>C
c.1739T>G (p.Leu580Arg)
c.1643T>G (p.Leu548Arg)
c.1469T>G (p.Leu490Arg)
c.1691T>G (p.Leu564Arg)
4g.186288473G>ACA442641349F11,F11-AS1c.1737G>A (p.Leu579=)
c.337G>A
c.1575G>A (p.Leu525=)
n.256G>A
n.1021C>T
c.1740G>A (p.Leu580=)
c.1644G>A (p.Leu548=)
c.1470G>A (p.Leu490=)
c.1692G>A (p.Leu564=)
 gnomAD v4
4g.186288473G>CCA442641350F11,F11-AS1c.1737G>C (p.Leu579=)
c.337G>C
c.1575G>C (p.Leu525=)
n.256G>C
n.1021C>G
c.1740G>C (p.Leu580=)
c.1644G>C (p.Leu548=)
c.1470G>C (p.Leu490=)
c.1692G>C (p.Leu564=)
4g.186288473G>TCA442641351F11,F11-AS1c.1737G>T (p.Leu579=)
c.337G>T
c.1575G>T (p.Leu525=)
n.256G>T
n.1021C>A
c.1740G>T (p.Leu580=)
c.1644G>T (p.Leu548=)
c.1470G>T (p.Leu490=)
c.1692G>T (p.Leu564=)
4g.186288474T>ACA358945881F11,F11-AS1c.1738T>A (p.Ser580Thr)
c.338T>A
c.1576T>A (p.Ser526Thr)
n.257T>A
n.1020A>T
c.1741T>A (p.Ser581Thr)
c.1645T>A (p.Ser549Thr)
c.1471T>A (p.Ser491Thr)
c.1693T>A (p.Ser565Thr)
4g.186288474T>CCA358945883F11,F11-AS1c.1738T>C (p.Ser580Pro)
c.338T>C
c.1576T>C (p.Ser526Pro)
n.257T>C
n.1020A>G
c.1741T>C (p.Ser581Pro)
c.1645T>C (p.Ser549Pro)
c.1471T>C (p.Ser491Pro)
c.1693T>C (p.Ser565Pro)
4g.186288474T>GCA358945885F11,F11-AS1c.1738T>G (p.Ser580Ala)
c.338T>G
c.1576T>G (p.Ser526Ala)
n.257T>G
n.1020A>C
c.1741T>G (p.Ser581Ala)
c.1645T>G (p.Ser549Ala)
c.1471T>G (p.Ser491Ala)
c.1693T>G (p.Ser565Ala)
4g.186288475C>ACA358945887F11,F11-AS1c.1739C>A (p.Ser580Tyr)
c.339C>A
c.1577C>A (p.Ser526Tyr)
n.258C>A
n.1019G>T
c.1742C>A (p.Ser581Tyr)
c.1646C>A (p.Ser549Tyr)
c.1472C>A (p.Ser491Tyr)
c.1694C>A (p.Ser565Tyr)
4g.186288475C=CA1519939805F11,F11-AS1c.1739C= (p.Ser580=)
c.339C=
c.1577C= (p.Ser526=)
n.258C=
n.1019G=
c.1742C= (p.Ser581=)
c.1646C= (p.Ser549=)
c.1472C= (p.Ser491=)
c.1694C= (p.Ser565=)
4g.186288475C>GCA358945889F11,F11-AS1c.1739C>G (p.Ser580Cys)
c.339C>G
c.1577C>G (p.Ser526Cys)
n.258C>G
n.1019G>C
c.1742C>G (p.Ser581Cys)
c.1646C>G (p.Ser549Cys)
c.1472C>G (p.Ser491Cys)
c.1694C>G (p.Ser565Cys)
4g.186288475C>TCA3164111F11,F11-AS1c.1739C>T (p.Ser580Phe)
c.339C>T
c.1577C>T (p.Ser526Phe)
n.258C>T
n.1019G>A
c.1742C>T (p.Ser581Phe)
c.1646C>T (p.Ser549Phe)
c.1472C>T (p.Ser491Phe)
c.1694C>T (p.Ser565Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288476C>ACA442641354F11,F11-AS1c.1740C>A (p.Ser580=)
c.340C>A
c.1578C>A (p.Ser526=)
n.259C>A
n.1018G>T
c.1743C>A (p.Ser581=)
c.1647C>A (p.Ser549=)
c.1473C>A (p.Ser491=)
c.1695C>A (p.Ser565=)
4g.186288476C=CA1519939806F11,F11-AS1c.1740C= (p.Ser580=)
c.340C=
c.1578C= (p.Ser526=)
n.259C=
n.1018G=
c.1743C= (p.Ser581=)
c.1647C= (p.Ser549=)
c.1473C= (p.Ser491=)
c.1695C= (p.Ser565=)
4g.186288476C>GCA442641352F11,F11-AS1c.1740C>G (p.Ser580=)
c.340C>G
c.1578C>G (p.Ser526=)
n.259C>G
n.1018G>C
c.1743C>G (p.Ser581=)
c.1647C>G (p.Ser549=)
c.1473C>G (p.Ser491=)
c.1695C>G (p.Ser565=)
4g.186288476C>TCA442641353F11,F11-AS1c.1740C>T (p.Ser580=)
c.340C>T
c.1578C>T (p.Ser526=)
n.259C>T
n.1018G>A
c.1743C>T (p.Ser581=)
c.1647C>T (p.Ser549=)
c.1473C>T (p.Ser491=)
c.1695C>T (p.Ser565=)
 dbSNP
4g.186288477T>ACA358945895F11,F11-AS1c.1741T>A (p.Cys581Ser)
c.341T>A
c.1579T>A (p.Cys527Ser)
n.260T>A
n.1017A>T
c.1744T>A (p.Cys582Ser)
c.1648T>A (p.Cys550Ser)
c.1474T>A (p.Cys492Ser)
c.1696T>A (p.Cys566Ser)
4g.186288477T>CCA358945891F11,F11-AS1c.1741T>C (p.Cys581Arg)
c.341T>C
c.1579T>C (p.Cys527Arg)
n.260T>C
n.1017A>G
c.1744T>C (p.Cys582Arg)
c.1648T>C (p.Cys550Arg)
c.1474T>C (p.Cys492Arg)
c.1696T>C (p.Cys566Arg)
 ClinVar dbSNP
4g.186288477T>GCA358945893F11,F11-AS1c.1741T>G (p.Cys581Gly)
c.341T>G
c.1579T>G (p.Cys527Gly)
n.260T>G
n.1017A>C
c.1744T>G (p.Cys582Gly)
c.1648T>G (p.Cys550Gly)
c.1474T>G (p.Cys492Gly)
c.1696T>G (p.Cys566Gly)
4g.186288477T=CA1519939807F11,F11-AS1c.1741T= (p.Cys581=)
c.341T=
c.1579T= (p.Cys527=)
n.260T=
n.1017A=
c.1744T= (p.Cys582=)
c.1648T= (p.Cys550=)
c.1474T= (p.Cys492=)
c.1696T= (p.Cys566=)
4g.186288478G>ACA358945897F11,F11-AS1c.1742G>A (p.Cys581Tyr)
c.342G>A
c.1580G>A (p.Cys527Tyr)
n.261G>A
n.1016C>T
c.1745G>A (p.Cys582Tyr)
c.1649G>A (p.Cys550Tyr)
c.1475G>A (p.Cys492Tyr)
c.1697G>A (p.Cys566Tyr)
 dbSNP
4g.186288478G>CCA358945899F11,F11-AS1c.1742G>C (p.Cys581Ser)
c.342G>C
c.1580G>C (p.Cys527Ser)
n.261G>C
n.1016C>G
c.1745G>C (p.Cys582Ser)
c.1649G>C (p.Cys550Ser)
c.1475G>C (p.Cys492Ser)
c.1697G>C (p.Cys566Ser)
4g.186288478G=CA1519939808F11,F11-AS1c.1742G= (p.Cys581=)
c.342G=
c.1580G= (p.Cys527=)
n.261G=
n.1016C=
c.1745G= (p.Cys582=)
c.1649G= (p.Cys550=)
c.1475G= (p.Cys492=)
c.1697G= (p.Cys566=)
4g.186288478G>TCA358945901F11,F11-AS1c.1742G>T (p.Cys581Phe)
c.342G>T
c.1580G>T (p.Cys527Phe)
n.261G>T
n.1016C>A
c.1745G>T (p.Cys582Phe)
c.1649G>T (p.Cys550Phe)
c.1475G>T (p.Cys492Phe)
c.1697G>T (p.Cys566Phe)
4g.186288479C>ACA3164112F11,F11-AS1c.1743C>A (p.Cys581Ter)
c.343C>A
c.1581C>A (p.Cys527Ter)
n.262C>A
n.1015G>T
c.1746C>A (p.Cys582Ter)
c.1650C>A (p.Cys550Ter)
c.1476C>A (p.Cys492Ter)
c.1698C>A (p.Cys566Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288479C=CA1519939809F11,F11-AS1c.1743C= (p.Cys581=)
c.343C=
c.1581C= (p.Cys527=)
n.262C=
n.1015G=
c.1746C= (p.Cys582=)
c.1650C= (p.Cys550=)
c.1476C= (p.Cys492=)
c.1698C= (p.Cys566=)
4g.186288479C>GCA358945908F11,F11-AS1c.1743C>G (p.Cys581Trp)
c.343C>G
c.1581C>G (p.Cys527Trp)
n.262C>G
n.1015G>C
c.1746C>G (p.Cys582Trp)
c.1650C>G (p.Cys550Trp)
c.1476C>G (p.Cys492Trp)
c.1698C>G (p.Cys566Trp)
4g.186288479C>TCA442641355F11,F11-AS1c.1743C>T (p.Cys581=)
c.343C>T
c.1581C>T (p.Cys527=)
n.262C>T
n.1015G>A
c.1746C>T (p.Cys582=)
c.1650C>T (p.Cys550=)
c.1476C>T (p.Cys492=)
c.1698C>T (p.Cys566=)
4g.186288480A>CCA358945910F11,F11-AS1c.1744A>C (p.Lys582Gln)
c.344A>C
c.1582A>C (p.Lys528Gln)
n.263A>C
n.1014T>G
c.1747A>C (p.Lys583Gln)
c.1651A>C (p.Lys551Gln)
c.1477A>C (p.Lys493Gln)
c.1699A>C (p.Lys567Gln)
4g.186288480A>GCA358945911F11,F11-AS1c.1744A>G (p.Lys582Glu)
c.344A>G
c.1582A>G (p.Lys528Glu)
n.263A>G
n.1014T>C
c.1747A>G (p.Lys583Glu)
c.1651A>G (p.Lys551Glu)
c.1477A>G (p.Lys493Glu)
c.1699A>G (p.Lys567Glu)
4g.186288480A>TCA358945913F11,F11-AS1c.1744A>T (p.Lys582Ter)
c.344A>T
c.1582A>T (p.Lys528Ter)
n.263A>T
n.1014T>A
c.1747A>T (p.Lys583Ter)
c.1651A>T (p.Lys551Ter)
c.1477A>T (p.Lys493Ter)
c.1699A>T (p.Lys567Ter)
4g.186288482delCA2573138194F11,F11-AS1c.1746del (p.Lys582AsnfsTer9)
c.346del
c.1584del (p.Lys528AsnfsTer9)
n.265del
n.1014del
c.1749del (p.Lys583AsnfsTer9)
c.1653del (p.Lys551AsnfsTer9)
c.1479del (p.Lys493AsnfsTer9)
c.1701del (p.Lys567AsnfsTer9)
 ClinVar dbSNP
4g.186288481A>CCA358945915F11,F11-AS1c.1745A>C (p.Lys582Thr)
c.345A>C
c.1583A>C (p.Lys528Thr)
n.264A>C
n.1013T>G
c.1748A>C (p.Lys583Thr)
c.1652A>C (p.Lys551Thr)
c.1478A>C (p.Lys493Thr)
c.1700A>C (p.Lys567Thr)
4g.186288481A>GCA358945917F11,F11-AS1c.1745A>G (p.Lys582Arg)
c.345A>G
c.1583A>G (p.Lys528Arg)
n.264A>G
n.1013T>C
c.1748A>G (p.Lys583Arg)
c.1652A>G (p.Lys551Arg)
c.1478A>G (p.Lys493Arg)
c.1700A>G (p.Lys567Arg)
 gnomAD v4
4g.186288481A>TCA358945918F11,F11-AS1c.1745A>T (p.Lys582Ile)
c.345A>T
c.1583A>T (p.Lys528Ile)
n.264A>T
n.1013T>A
c.1748A>T (p.Lys583Ile)
c.1652A>T (p.Lys551Ile)
c.1478A>T (p.Lys493Ile)
c.1700A>T (p.Lys567Ile)
4g.186288482A=CA1519939810F11,F11-AS1c.1746A= (p.Lys582=)
c.346A=
c.1584A= (p.Lys528=)
n.265A=
n.1012T=
c.1749A= (p.Lys583=)
c.1653A= (p.Lys551=)
c.1479A= (p.Lys493=)
c.1701A= (p.Lys567=)
4g.186288482A>CCA112106175F11,F11-AS1c.1746A>C (p.Lys582Asn)
c.346A>C
c.1584A>C (p.Lys528Asn)
n.265A>C
n.1012T>G
c.1749A>C (p.Lys583Asn)
c.1653A>C (p.Lys551Asn)
c.1479A>C (p.Lys493Asn)
c.1701A>C (p.Lys567Asn)
 dbSNP
4g.186288482A>GCA442641356F11,F11-AS1c.1746A>G (p.Lys582=)
c.346A>G
c.1584A>G (p.Lys528=)
n.265A>G
n.1012T>C
c.1749A>G (p.Lys583=)
c.1653A>G (p.Lys551=)
c.1479A>G (p.Lys493=)
c.1701A>G (p.Lys567=)
4g.186288482A>TCA358945921F11,F11-AS1c.1746A>T (p.Lys582Asn)
c.346A>T
c.1584A>T (p.Lys528Asn)
n.265A>T
n.1012T>A
c.1749A>T (p.Lys583Asn)
c.1653A>T (p.Lys551Asn)
c.1479A>T (p.Lys493Asn)
c.1701A>T (p.Lys567Asn)
 gnomAD v4
4g.186288483C>ACA358945923F11,F11-AS1c.1747C>A (p.His583Asn)
c.347C>A
c.1585C>A (p.His529Asn)
n.266C>A
n.1011G>T
c.1750C>A (p.His584Asn)
c.1654C>A (p.His552Asn)
c.1480C>A (p.His494Asn)
c.1702C>A (p.His568Asn)
4g.186288483C>GCA358945925F11,F11-AS1c.1747C>G (p.His583Asp)
c.347C>G
c.1585C>G (p.His529Asp)
n.266C>G
n.1011G>C
c.1750C>G (p.His584Asp)
c.1654C>G (p.His552Asp)
c.1480C>G (p.His494Asp)
c.1702C>G (p.His568Asp)
4g.186288483C>TCA358945926F11,F11-AS1c.1747C>T (p.His583Tyr)
c.347C>T
c.1585C>T (p.His529Tyr)
n.266C>T
n.1011G>A
c.1750C>T (p.His584Tyr)
c.1654C>T (p.His552Tyr)
c.1480C>T (p.His494Tyr)
c.1702C>T (p.His568Tyr)
 gnomAD v4
4g.186288483dupCA3164113F11,F11-AS1c.1747dup (p.His583ProfsTer3)
c.347dup
c.1585dup (p.His529ProfsTer3)
n.266dup
n.1011dup
c.1750dup (p.His584ProfsTer3)
c.1654dup (p.His552ProfsTer3)
c.1480dup (p.His494ProfsTer3)
c.1702dup (p.His568ProfsTer3)
 dbSNP ExAC gnomAD v2
4g.186288484A=CA1519939811F11,F11-AS1c.1748A= (p.His583=)
c.348A=
c.1586A= (p.His529=)
n.267A=
n.1010T=
c.1751A= (p.His584=)
c.1655A= (p.His552=)
c.1481A= (p.His494=)
c.1703A= (p.His568=)
4g.186288484A>CCA358945928F11,F11-AS1c.1748A>C (p.His583Pro)
c.348A>C
c.1586A>C (p.His529Pro)
n.267A>C
n.1010T>G
c.1751A>C (p.His584Pro)
c.1655A>C (p.His552Pro)
c.1481A>C (p.His494Pro)
c.1703A>C (p.His568Pro)
4g.186288484A>GCA358945930F11,F11-AS1c.1748A>G (p.His583Arg)
c.348A>G
c.1586A>G (p.His529Arg)
n.267A>G
n.1010T>C
c.1751A>G (p.His584Arg)
c.1655A>G (p.His552Arg)
c.1481A>G (p.His494Arg)
c.1703A>G (p.His568Arg)
4g.186288484A>TCA3164114F11,F11-AS1c.1748A>T (p.His583Leu)
c.348A>T
c.1586A>T (p.His529Leu)
n.267A>T
n.1010T>A
c.1751A>T (p.His584Leu)
c.1655A>T (p.His552Leu)
c.1481A>T (p.His494Leu)
c.1703A>T (p.His568Leu)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
4g.186288485C>ACA358945933F11,F11-AS1c.1749C>A (p.His583Gln)
c.349C>A
c.1587C>A (p.His529Gln)
n.268C>A
n.1009G>T
c.1752C>A (p.His584Gln)
c.1656C>A (p.His552Gln)
c.1482C>A (p.His494Gln)
c.1704C>A (p.His568Gln)
4g.186288485C=CA1519939812F11,F11-AS1c.1749C= (p.His583=)
c.349C=
c.1587C= (p.His529=)
n.268C=
n.1009G=
c.1752C= (p.His584=)
c.1656C= (p.His552=)
c.1482C= (p.His494=)
c.1704C= (p.His568=)
4g.186288485C>GCA358945935F11,F11-AS1c.1749C>G (p.His583Gln)
c.349C>G
c.1587C>G (p.His529Gln)
n.268C>G
n.1009G>C
c.1752C>G (p.His584Gln)
c.1656C>G (p.His552Gln)
c.1482C>G (p.His494Gln)
c.1704C>G (p.His568Gln)
4g.186288485C>TCA442641358F11,F11-AS1c.1749C>T (p.His583=)
c.349C>T
c.1587C>T (p.His529=)
n.268C>T
n.1009G>A
c.1752C>T (p.His584=)
c.1656C>T (p.His552=)
c.1482C>T (p.His494=)
c.1704C>T (p.His568=)
 dbSNP gnomAD v2 gnomAD v4
4g.186288486A=CA1519939813F11,F11-AS1c.1750A= (p.Asn584=)
c.350A=
c.1588A= (p.Asn530=)
n.269A=
n.1008T=
c.1753A= (p.Asn585=)
c.1657A= (p.Asn553=)
c.1483A= (p.Asn495=)
c.1705A= (p.Asn569=)
4g.186288486A>CCA358945937F11,F11-AS1c.1750A>C (p.Asn584His)
c.350A>C
c.1588A>C (p.Asn530His)
n.269A>C
n.1008T>G
c.1753A>C (p.Asn585His)
c.1657A>C (p.Asn553His)
c.1483A>C (p.Asn495His)
c.1705A>C (p.Asn569His)
4g.186288486A>GCA3164115F11,F11-AS1c.1750A>G (p.Asn584Asp)
c.350A>G
c.1588A>G (p.Asn530Asp)
n.269A>G
n.1008T>C
c.1753A>G (p.Asn585Asp)
c.1657A>G (p.Asn553Asp)
c.1483A>G (p.Asn495Asp)
c.1705A>G (p.Asn569Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288486A>TCA358945940F11,F11-AS1c.1750A>T (p.Asn584Tyr)
c.350A>T
c.1588A>T (p.Asn530Tyr)
n.269A>T
n.1008T>A
c.1753A>T (p.Asn585Tyr)
c.1657A>T (p.Asn553Tyr)
c.1483A>T (p.Asn495Tyr)
c.1705A>T (p.Asn569Tyr)
4g.186288486_186288487insTTGCA3164116F11,F11-AS1c.1750_1751insTTG (p.Asn584delinsIleAsp)
c.350_351insTTG
c.1588_1589insTTG (p.Asn530delinsIleAsp)
n.269_270insTTG
n.1007_1008insCAA
c.1753_1754insTTG (p.Asn585delinsIleAsp)
c.1657_1658insTTG (p.Asn553delinsIleAsp)
c.1483_1484insTTG (p.Asn495delinsIleAsp)
c.1705_1706insTTG (p.Asn569delinsIleAsp)
 dbSNP ExAC gnomAD v2
4g.186288487A=CA1519939814F11,F11-AS1c.1751A= (p.Asn584=)
c.351A=
c.1589A= (p.Asn530=)
n.270A=
n.1007T=
c.1754A= (p.Asn585=)
c.1658A= (p.Asn553=)
c.1484A= (p.Asn495=)
c.1706A= (p.Asn569=)
4g.186288487A>CCA358945946F11,F11-AS1c.1751A>C (p.Asn584Thr)
c.351A>C
c.1589A>C (p.Asn530Thr)
n.270A>C
n.1007T>G
c.1754A>C (p.Asn585Thr)
c.1658A>C (p.Asn553Thr)
c.1484A>C (p.Asn495Thr)
c.1706A>C (p.Asn569Thr)
4g.186288487A>GCA3164117F11,F11-AS1c.1751A>G (p.Asn584Ser)
c.351A>G
c.1589A>G (p.Asn530Ser)
n.270A>G
n.1007T>C
c.1754A>G (p.Asn585Ser)
c.1658A>G (p.Asn553Ser)
c.1484A>G (p.Asn495Ser)
c.1706A>G (p.Asn569Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288487A>TCA3164118F11,F11-AS1c.1751A>T (p.Asn584Ile)
c.351A>T
c.1589A>T (p.Asn530Ile)
n.270A>T
n.1007T>A
c.1754A>T (p.Asn585Ile)
c.1658A>T (p.Asn553Ile)
c.1484A>T (p.Asn495Ile)
c.1706A>T (p.Asn569Ile)
 ClinVar dbSNP ExAC gnomAD v2
4g.186288488T>ACA358945949F11,F11-AS1c.1752T>A (p.Asn584Lys)
c.352T>A
c.1590T>A (p.Asn530Lys)
n.271T>A
n.1006A>T
c.1755T>A (p.Asn585Lys)
c.1659T>A (p.Asn553Lys)
c.1485T>A (p.Asn495Lys)
c.1707T>A (p.Asn569Lys)
4g.186288488T>CCA112106189F11,F11-AS1c.1752T>C (p.Asn584=)
c.352T>C
c.1590T>C (p.Asn530=)
n.271T>C
n.1006A>G
c.1755T>C (p.Asn585=)
c.1659T>C (p.Asn553=)
c.1485T>C (p.Asn495=)
c.1707T>C (p.Asn569=)
 dbSNP gnomAD v4
4g.186288488T>GCA358945951F11,F11-AS1c.1752T>G (p.Asn584Lys)
c.352T>G
c.1590T>G (p.Asn530Lys)
n.271T>G
n.1006A>C
c.1755T>G (p.Asn585Lys)
c.1659T>G (p.Asn553Lys)
c.1485T>G (p.Asn495Lys)
c.1707T>G (p.Asn569Lys)
4g.186288488T=CA1519939815F11,F11-AS1c.1752T= (p.Asn584=)
c.352T=
c.1590T= (p.Asn530=)
n.271T=
n.1006A=
c.1755T= (p.Asn585=)
c.1659T= (p.Asn553=)
c.1485T= (p.Asn495=)
c.1707T= (p.Asn569=)
4g.186288489G>ACA358945953F11,F11-AS1c.1753G>A (p.Glu585Lys)
c.353G>A
c.1591G>A (p.Glu531Lys)
n.272G>A
n.1005C>T
c.1756G>A (p.Glu586Lys)
c.1660G>A (p.Glu554Lys)
c.1486G>A (p.Glu496Lys)
c.1708G>A (p.Glu570Lys)
 gnomAD v4
4g.186288489G>CCA358945955F11,F11-AS1c.1753G>C (p.Glu585Gln)
c.353G>C
c.1591G>C (p.Glu531Gln)
n.272G>C
n.1005C>G
c.1756G>C (p.Glu586Gln)
c.1660G>C (p.Glu554Gln)
c.1486G>C (p.Glu496Gln)
c.1708G>C (p.Glu570Gln)
4g.186288489G>TCA358945956F11,F11-AS1c.1753G>T (p.Glu585Ter)
c.353G>T
c.1591G>T (p.Glu531Ter)
n.272G>T
n.1005C>A
c.1756G>T (p.Glu586Ter)
c.1660G>T (p.Glu554Ter)
c.1486G>T (p.Glu496Ter)
c.1708G>T (p.Glu570Ter)
4g.186288490A=CA1519939816F11,F11-AS1c.1754A= (p.Glu585=)
c.354A=
c.1592A= (p.Glu531=)
n.273A=
n.1004T=
c.1757A= (p.Glu586=)
c.1661A= (p.Glu554=)
c.1487A= (p.Glu496=)
c.1709A= (p.Glu570=)
4g.186288490A>CCA358945959F11,F11-AS1c.1754A>C (p.Glu585Ala)
c.354A>C
c.1592A>C (p.Glu531Ala)
n.273A>C
n.1004T>G
c.1757A>C (p.Glu586Ala)
c.1661A>C (p.Glu554Ala)
c.1487A>C (p.Glu496Ala)
c.1709A>C (p.Glu570Ala)
4g.186288490A>GCA112106194F11,F11-AS1c.1754A>G (p.Glu585Gly)
c.354A>G
c.1592A>G (p.Glu531Gly)
n.273A>G
n.1004T>C
c.1757A>G (p.Glu586Gly)
c.1661A>G (p.Glu554Gly)
c.1487A>G (p.Glu496Gly)
c.1709A>G (p.Glu570Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.186288490A>TCA358945961F11,F11-AS1c.1754A>T (p.Glu585Val)
c.354A>T
c.1592A>T (p.Glu531Val)
n.273A>T
n.1004T>A
c.1757A>T (p.Glu586Val)
c.1661A>T (p.Glu554Val)
c.1487A>T (p.Glu496Val)
c.1709A>T (p.Glu570Val)
4g.186288491G>ACA442641359F11,F11-AS1c.1755G>A (p.Glu585=)
c.355G>A
c.1593G>A (p.Glu531=)
n.274G>A
n.1003C>T
c.1758G>A (p.Glu586=)
c.1662G>A (p.Glu554=)
c.1488G>A (p.Glu496=)
c.1710G>A (p.Glu570=)
 dbSNP gnomAD v4
4g.186288491G>CCA358945964F11,F11-AS1c.1755G>C (p.Glu585Asp)
c.355G>C
c.1593G>C (p.Glu531Asp)
n.274G>C
n.1003C>G
c.1758G>C (p.Glu586Asp)
c.1662G>C (p.Glu554Asp)
c.1488G>C (p.Glu496Asp)
c.1710G>C (p.Glu570Asp)
4g.186288491G=CA1519939817F11,F11-AS1c.1755G= (p.Glu585=)
c.355G=
c.1593G= (p.Glu531=)
n.274G=
n.1003C=
c.1758G= (p.Glu586=)
c.1662G= (p.Glu554=)
c.1488G= (p.Glu496=)
c.1710G= (p.Glu570=)
4g.186288491G>TCA358945966F11,F11-AS1c.1755G>T (p.Glu585Asp)
c.355G>T
c.1593G>T (p.Glu531Asp)
n.274G>T
n.1003C>A
c.1758G>T (p.Glu586Asp)
c.1662G>T (p.Glu554Asp)
c.1488G>T (p.Glu496Asp)
c.1710G>T (p.Glu570Asp)
4g.186288492G>ACA358945969F11,F11-AS1c.1756G>A (p.Val586Ile)
c.356G>A
c.1594G>A (p.Val532Ile)
n.275G>A
n.1002C>T
c.1759G>A (p.Val587Ile)
c.1663G>A (p.Val555Ile)
c.1489G>A (p.Val497Ile)
c.1711G>A (p.Val571Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.186288492G>CCA358945970F11,F11-AS1c.1756G>C (p.Val586Leu)
c.356G>C
c.1594G>C (p.Val532Leu)
n.275G>C
n.1002C>G
c.1759G>C (p.Val587Leu)
c.1663G>C (p.Val555Leu)
c.1489G>C (p.Val497Leu)
c.1711G>C (p.Val571Leu)
4g.186288492G=CA1519939818F11,F11-AS1c.1756G= (p.Val586=)
c.356G=
c.1594G= (p.Val532=)
n.275G=
n.1002C=
c.1759G= (p.Val587=)
c.1663G= (p.Val555=)
c.1489G= (p.Val497=)
c.1711G= (p.Val571=)
4g.186288492G>TCA358945972F11,F11-AS1c.1756G>T (p.Val586Phe)
c.356G>T
c.1594G>T (p.Val532Phe)
n.275G>T
n.1002C>A
c.1759G>T (p.Val587Phe)
c.1663G>T (p.Val555Phe)
c.1489G>T (p.Val497Phe)
c.1711G>T (p.Val571Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.186288493T>ACA358945976F11,F11-AS1c.1757T>A (p.Val586Asp)
c.357T>A
c.1595T>A (p.Val532Asp)
n.276T>A
n.1001A>T
c.1760T>A (p.Val587Asp)
c.1664T>A (p.Val555Asp)
c.1490T>A (p.Val497Asp)
c.1712T>A (p.Val571Asp)
4g.186288493T>CCA358945977F11,F11-AS1c.1757T>C (p.Val586Ala)
c.357T>C
c.1595T>C (p.Val532Ala)
n.276T>C
n.1001A>G
c.1760T>C (p.Val587Ala)
c.1664T>C (p.Val555Ala)
c.1490T>C (p.Val497Ala)
c.1712T>C (p.Val571Ala)
4g.186288493T>GCA358945975F11,F11-AS1c.1757T>G (p.Val586Gly)
c.357T>G
c.1595T>G (p.Val532Gly)
n.276T>G
n.1001A>C
c.1760T>G (p.Val587Gly)
c.1664T>G (p.Val555Gly)
c.1490T>G (p.Val497Gly)
c.1712T>G (p.Val571Gly)
4g.186288494C>ACA442641360F11,F11-AS1c.1758C>A (p.Val586=)
c.358C>A
c.1596C>A (p.Val532=)
n.277C>A
n.1000G>T
c.1761C>A (p.Val587=)
c.1665C>A (p.Val555=)
c.1491C>A (p.Val497=)
c.1713C>A (p.Val571=)
4g.186288494C>GCA442641361F11,F11-AS1c.1758C>G (p.Val586=)
c.358C>G
c.1596C>G (p.Val532=)
n.277C>G
n.1000G>C
c.1761C>G (p.Val587=)
c.1665C>G (p.Val555=)
c.1491C>G (p.Val497=)
c.1713C>G (p.Val571=)
4g.186288494C>TCA442641362F11,F11-AS1c.1758C>T (p.Val586=)
c.358C>T
c.1596C>T (p.Val532=)
n.277C>T
n.1000G>A
c.1761C>T (p.Val587=)
c.1665C>T (p.Val555=)
c.1491C>T (p.Val497=)
c.1713C>T (p.Val571=)
 COSMIC COSMIC
4g.186288495T>ACA358945981F11,F11-AS1c.1759T>A (p.Trp587Arg)
c.359T>A
c.1597T>A (p.Trp533Arg)
n.278T>A
n.999A>T
c.1762T>A (p.Trp588Arg)
c.1666T>A (p.Trp556Arg)
c.1492T>A (p.Trp498Arg)
c.1714T>A (p.Trp572Arg)
4g.186288495T>CCA358945979F11,F11-AS1c.1759T>C (p.Trp587Arg)
c.359T>C
c.1597T>C (p.Trp533Arg)
n.278T>C
n.999A>G
c.1762T>C (p.Trp588Arg)
c.1666T>C (p.Trp556Arg)
c.1492T>C (p.Trp498Arg)
c.1714T>C (p.Trp572Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.186288495T>GCA358945982F11,F11-AS1c.1759T>G (p.Trp587Gly)
c.359T>G
c.1597T>G (p.Trp533Gly)
n.278T>G
n.999A>C
c.1762T>G (p.Trp588Gly)
c.1666T>G (p.Trp556Gly)
c.1492T>G (p.Trp498Gly)
c.1714T>G (p.Trp572Gly)
4g.186288495T=CA1519939819F11,F11-AS1c.1759T= (p.Trp587=)
c.359T=
c.1597T= (p.Trp533=)
n.278T=
n.999A=
c.1762T= (p.Trp588=)
c.1666T= (p.Trp556=)
c.1492T= (p.Trp498=)
c.1714T= (p.Trp572=)
4g.186288496G>ACA358945985F11,F11-AS1c.1760G>A (p.Trp587Ter)
c.360G>A
c.1598G>A (p.Trp533Ter)
n.279G>A
n.998C>T
c.1763G>A (p.Trp588Ter)
c.1667G>A (p.Trp556Ter)
c.1493G>A (p.Trp498Ter)
c.1715G>A (p.Trp572Ter)
4g.186288496G>CCA121769F11,F11-AS1c.1760G>C (p.Trp587Ser)
c.360G>C
c.1598G>C (p.Trp533Ser)
n.279G>C
n.998C>G
c.1763G>C (p.Trp588Ser)
c.1667G>C (p.Trp556Ser)
c.1493G>C (p.Trp498Ser)
c.1715G>C (p.Trp572Ser)
 ClinVar dbSNP
4g.186288496G=CA1519939820F11,F11-AS1c.1760G= (p.Trp587=)
c.360G=
c.1598G= (p.Trp533=)
n.279G=
n.998C=
c.1763G= (p.Trp588=)
c.1667G= (p.Trp556=)
c.1493G= (p.Trp498=)
c.1715G= (p.Trp572=)
4g.186288496G>TCA358945986F11,F11-AS1c.1760G>T (p.Trp587Leu)
c.360G>T
c.1598G>T (p.Trp533Leu)
n.279G>T
n.998C>A
c.1763G>T (p.Trp588Leu)
c.1667G>T (p.Trp556Leu)
c.1493G>T (p.Trp498Leu)
c.1715G>T (p.Trp572Leu)
4g.186288497G>ACA358945989F11,F11-AS1c.1761G>A (p.Trp587Ter)
c.361G>A
c.1599G>A (p.Trp533Ter)
n.280G>A
n.997C>T
c.1764G>A (p.Trp588Ter)
c.1668G>A (p.Trp556Ter)
c.1494G>A (p.Trp498Ter)
c.1716G>A (p.Trp572Ter)
4g.186288497G>CCA358945990F11,F11-AS1c.1761G>C (p.Trp587Cys)
c.361G>C
c.1599G>C (p.Trp533Cys)
n.280G>C
n.997C>G
c.1764G>C (p.Trp588Cys)
c.1668G>C (p.Trp556Cys)
c.1494G>C (p.Trp498Cys)
c.1716G>C (p.Trp572Cys)
4g.186288497G>TCA358945992F11,F11-AS1c.1761G>T (p.Trp587Cys)
c.361G>T
c.1599G>T (p.Trp533Cys)
n.280G>T
n.997C>A
c.1764G>T (p.Trp588Cys)
c.1668G>T (p.Trp556Cys)
c.1494G>T (p.Trp498Cys)
c.1716G>T (p.Trp572Cys)
4g.186288498C>ACA358945994F11,F11-AS1c.1762C>A (p.His588Asn)
c.362C>A
c.1600C>A (p.His534Asn)
n.281C>A
n.996G>T
c.1765C>A (p.His589Asn)
c.1669C>A (p.His557Asn)
c.1495C>A (p.His499Asn)
c.1717C>A (p.His573Asn)
4g.186288498C>GCA358945995F11,F11-AS1c.1762C>G (p.His588Asp)
c.362C>G
c.1600C>G (p.His534Asp)
n.281C>G
n.996G>C
c.1765C>G (p.His589Asp)
c.1669C>G (p.His557Asp)
c.1495C>G (p.His499Asp)
c.1717C>G (p.His573Asp)
4g.186288498C>TCA358945998F11,F11-AS1c.1762C>T (p.His588Tyr)
c.362C>T
c.1600C>T (p.His534Tyr)
n.281C>T
n.996G>A
c.1765C>T (p.His589Tyr)
c.1669C>T (p.His557Tyr)
c.1495C>T (p.His499Tyr)
c.1717C>T (p.His573Tyr)
4g.186288499A>CCA358946000F11,F11-AS1c.1763A>C (p.His588Pro)
c.363A>C
c.1601A>C (p.His534Pro)
n.282A>C
n.995T>G
c.1766A>C (p.His589Pro)
c.1670A>C (p.His557Pro)
c.1496A>C (p.His499Pro)
c.1718A>C (p.His573Pro)
4g.186288499A>GCA358946002F11,F11-AS1c.1763A>G (p.His588Arg)
c.363A>G
c.1601A>G (p.His534Arg)
n.282A>G
n.995T>C
c.1766A>G (p.His589Arg)
c.1670A>G (p.His557Arg)
c.1496A>G (p.His499Arg)
c.1718A>G (p.His573Arg)
4g.186288499A>TCA358946004F11,F11-AS1c.1763A>T (p.His588Leu)
c.363A>T
c.1601A>T (p.His534Leu)
n.282A>T
n.995T>A
c.1766A>T (p.His589Leu)
c.1670A>T (p.His557Leu)
c.1496A>T (p.His499Leu)
c.1718A>T (p.His573Leu)
4g.186288500T>ACA358946005F11,F11-AS1c.1764T>A (p.His588Gln)
c.364T>A
c.1602T>A (p.His534Gln)
n.283T>A
n.994A>T
c.1767T>A (p.His589Gln)
c.1671T>A (p.His557Gln)
c.1497T>A (p.His499Gln)
c.1719T>A (p.His573Gln)
 dbSNP
4g.186288500T>CCA442641363F11,F11-AS1c.1764T>C (p.His588=)
c.364T>C
c.1602T>C (p.His534=)
n.283T>C
n.994A>G
c.1767T>C (p.His589=)
c.1671T>C (p.His557=)
c.1497T>C (p.His499=)
c.1719T>C (p.His573=)
4g.186288500T>GCA358946006F11,F11-AS1c.1764T>G (p.His588Gln)
c.364T>G
c.1602T>G (p.His534Gln)
n.283T>G
n.994A>C
c.1767T>G (p.His589Gln)
c.1671T>G (p.His557Gln)
c.1497T>G (p.His499Gln)
c.1719T>G (p.His573Gln)
4g.186288500T=CA1519939821F11,F11-AS1c.1764T= (p.His588=)
c.364T=
c.1602T= (p.His534=)
n.283T=
n.994A=
c.1767T= (p.His589=)
c.1671T= (p.His557=)
c.1497T= (p.His499=)
c.1719T= (p.His573=)
4g.186288501C>ACA358946008F11,F11-AS1c.1765C>A (p.Leu589Met)
c.365C>A
c.1603C>A (p.Leu535Met)
n.284C>A
n.993G>T
c.1768C>A (p.Leu590Met)
c.1672C>A (p.Leu558Met)
c.1498C>A (p.Leu500Met)
c.1720C>A (p.Leu574Met)
4g.186288501C>GCA358946010F11,F11-AS1c.1765C>G (p.Leu589Val)
c.365C>G
c.1603C>G (p.Leu535Val)
n.284C>G
n.993G>C
c.1768C>G (p.Leu590Val)
c.1672C>G (p.Leu558Val)
c.1498C>G (p.Leu500Val)
c.1720C>G (p.Leu574Val)
4g.186288501C>TCA442641364F11,F11-AS1c.1765C>T (p.Leu589=)
c.365C>T
c.1603C>T (p.Leu535=)
n.284C>T
n.993G>A
c.1768C>T (p.Leu590=)
c.1672C>T (p.Leu558=)
c.1498C>T (p.Leu500=)
c.1720C>T (p.Leu574=)
4g.186288502T>ACA358946015F11,F11-AS1c.1766T>A (p.Leu589Gln)
c.366T>A
c.1604T>A (p.Leu535Gln)
n.285T>A
n.992A>T
c.1769T>A (p.Leu590Gln)
c.1673T>A (p.Leu558Gln)
c.1499T>A (p.Leu500Gln)
c.1721T>A (p.Leu574Gln)
4g.186288502T>CCA112106205F11,F11-AS1c.1766T>C (p.Leu589Pro)
c.366T>C
c.1604T>C (p.Leu535Pro)
n.285T>C
n.992A>G
c.1769T>C (p.Leu590Pro)
c.1673T>C (p.Leu558Pro)
c.1499T>C (p.Leu500Pro)
c.1721T>C (p.Leu574Pro)
 dbSNP gnomAD v3 gnomAD v4
4g.186288502T>GCA358946012F11,F11-AS1c.1766T>G (p.Leu589Arg)
c.366T>G
c.1604T>G (p.Leu535Arg)
n.285T>G
n.992A>C
c.1769T>G (p.Leu590Arg)
c.1673T>G (p.Leu558Arg)
c.1499T>G (p.Leu500Arg)
c.1721T>G (p.Leu574Arg)
4g.186288502T=CA1519939822F11,F11-AS1c.1766T= (p.Leu589=)
c.366T=
c.1604T= (p.Leu535=)
n.285T=
n.992A=
c.1769T= (p.Leu590=)
c.1673T= (p.Leu558=)
c.1499T= (p.Leu500=)
c.1721T= (p.Leu574=)
4g.186288503G>ACA442641365F11,F11-AS1c.1767G>A (p.Leu589=)
c.367G>A
c.1605G>A (p.Leu535=)
n.286G>A
n.991C>T
c.1770G>A (p.Leu590=)
c.1674G>A (p.Leu558=)
c.1500G>A (p.Leu500=)
c.1722G>A (p.Leu574=)
4g.186288503G>CCA442641366F11,F11-AS1c.1767G>C (p.Leu589=)
c.367G>C
c.1605G>C (p.Leu535=)
n.286G>C
n.991C>G
c.1770G>C (p.Leu590=)
c.1674G>C (p.Leu558=)
c.1500G>C (p.Leu500=)
c.1722G>C (p.Leu574=)
4g.186288503G=CA1519939823F11,F11-AS1c.1767G= (p.Leu589=)
c.367G=
c.1605G= (p.Leu535=)
n.286G=
n.991C=
c.1770G= (p.Leu590=)
c.1674G= (p.Leu558=)
c.1500G= (p.Leu500=)
c.1722G= (p.Leu574=)
4g.186288503G>TCA3164119F11,F11-AS1c.1767G>T (p.Leu589=)
c.367G>T
c.1605G>T (p.Leu535=)
n.286G>T
n.991C>A
c.1770G>T (p.Leu590=)
c.1674G>T (p.Leu558=)
c.1500G>T (p.Leu500=)
c.1722G>T (p.Leu574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288504delCA2695204112F11,F11-AS1c.1768del (p.Val590Ter)
c.368del
c.1606del (p.Val536Ter)
n.287del
n.991del
c.1771del (p.Val591Ter)
c.1675del (p.Val559Ter)
c.1501del (p.Val501Ter)
c.1723del (p.Val575Ter)
4g.186288504G>ACA358946019F11,F11-AS1c.1768G>A (p.Val590Ile)
c.368G>A
c.1606G>A (p.Val536Ile)
n.287G>A
n.990C>T
c.1771G>A (p.Val591Ile)
c.1675G>A (p.Val559Ile)
c.1501G>A (p.Val501Ile)
c.1723G>A (p.Val575Ile)
4g.186288504G>CCA358946020F11,F11-AS1c.1768G>C (p.Val590Leu)
c.368G>C
c.1606G>C (p.Val536Leu)
n.287G>C
n.990C>G
c.1771G>C (p.Val591Leu)
c.1675G>C (p.Val559Leu)
c.1501G>C (p.Val501Leu)
c.1723G>C (p.Val575Leu)
4g.186288504G>TCA358946022F11,F11-AS1c.1768G>T (p.Val590Leu)
c.368G>T
c.1606G>T (p.Val536Leu)
n.287G>T
n.990C>A
c.1771G>T (p.Val591Leu)
c.1675G>T (p.Val559Leu)
c.1501G>T (p.Val501Leu)
c.1723G>T (p.Val575Leu)
4g.186288505T>ACA358946025F11,F11-AS1c.1769T>A (p.Val590Glu)
c.369T>A
c.1607T>A (p.Val536Glu)
n.288T>A
n.989A>T
c.1772T>A (p.Val591Glu)
c.1676T>A (p.Val559Glu)
c.1502T>A (p.Val501Glu)
c.1724T>A (p.Val575Glu)
4g.186288505T>CCA358946026F11,F11-AS1c.1769T>C (p.Val590Ala)
c.369T>C
c.1607T>C (p.Val536Ala)
n.288T>C
n.989A>G
c.1772T>C (p.Val591Ala)
c.1676T>C (p.Val559Ala)
c.1502T>C (p.Val501Ala)
c.1724T>C (p.Val575Ala)
 gnomAD v4
4g.186288505T>GCA358946028F11,F11-AS1c.1769T>G (p.Val590Gly)
c.369T>G
c.1607T>G (p.Val536Gly)
n.288T>G
n.989A>C
c.1772T>G (p.Val591Gly)
c.1676T>G (p.Val559Gly)
c.1502T>G (p.Val501Gly)
c.1724T>G (p.Val575Gly)
4g.186288506A>CCA442641369F11,F11-AS1c.1770A>C (p.Val590=)
c.370A>C
c.1608A>C (p.Val536=)
n.289A>C
n.988T>G
c.1773A>C (p.Val591=)
c.1677A>C (p.Val559=)
c.1503A>C (p.Val501=)
c.1725A>C (p.Val575=)
4g.186288506A>GCA442641368F11,F11-AS1c.1770A>G (p.Val590=)
c.370A>G
c.1608A>G (p.Val536=)
n.289A>G
n.988T>C
c.1773A>G (p.Val591=)
c.1677A>G (p.Val559=)
c.1503A>G (p.Val501=)
c.1725A>G (p.Val575=)
 gnomAD v4
4g.186288506A>TCA442641367F11,F11-AS1c.1770A>T (p.Val590=)
c.370A>T
c.1608A>T (p.Val536=)
n.289A>T
n.988T>A
c.1773A>T (p.Val591=)
c.1677A>T (p.Val559=)
c.1503A>T (p.Val501=)
c.1725A>T (p.Val575=)
4g.186288507G>ACA358946029F11,F11-AS1c.1771G>A (p.Gly591Ser)
c.371G>A
c.1609G>A (p.Gly537Ser)
n.290G>A
n.987C>T
c.1774G>A (p.Gly592Ser)
c.1678G>A (p.Gly560Ser)
c.1504G>A (p.Gly502Ser)
c.1726G>A (p.Gly576Ser)
 COSMIC COSMIC
4g.186288507G>CCA358946031F11,F11-AS1c.1771G>C (p.Gly591Arg)
c.371G>C
c.1609G>C (p.Gly537Arg)
n.290G>C
n.987C>G
c.1774G>C (p.Gly592Arg)
c.1678G>C (p.Gly560Arg)
c.1504G>C (p.Gly502Arg)
c.1726G>C (p.Gly576Arg)
4g.186288507G>TCA358946033F11,F11-AS1c.1771G>T (p.Gly591Cys)
c.371G>T
c.1609G>T (p.Gly537Cys)
n.290G>T
n.987C>A
c.1774G>T (p.Gly592Cys)
c.1678G>T (p.Gly560Cys)
c.1504G>T (p.Gly502Cys)
c.1726G>T (p.Gly576Cys)
4g.186288507_186288508delinsAACA645540562F11,F11-AS1c.1771_1772delinsAA (p.Gly591Asn)
c.371_372delinsAA
c.1609_1610delinsAA (p.Gly537Asn)
n.290_291delinsAA
n.986_987delinsTT
c.1774_1775delinsAA (p.Gly592Asn)
c.1678_1679delinsAA (p.Gly560Asn)
c.1504_1505delinsAA (p.Gly502Asn)
c.1726_1727delinsAA (p.Gly576Asn)
 COSMIC COSMIC
4g.186288508G>ACA358946036F11,F11-AS1c.1772G>A (p.Gly591Asp)
c.372G>A
c.1610G>A (p.Gly537Asp)
n.291G>A
n.986C>T
c.1775G>A (p.Gly592Asp)
c.1679G>A (p.Gly560Asp)
c.1505G>A (p.Gly502Asp)
c.1727G>A (p.Gly576Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186288508G>CCA358946038F11,F11-AS1c.1772G>C (p.Gly591Ala)
c.372G>C
c.1610G>C (p.Gly537Ala)
n.291G>C
n.986C>G
c.1775G>C (p.Gly592Ala)
c.1679G>C (p.Gly560Ala)
c.1505G>C (p.Gly502Ala)
c.1727G>C (p.Gly576Ala)
 ClinVar dbSNP
4g.186288508G=CA1519939824F11,F11-AS1c.1772G= (p.Gly591=)
c.372G=
c.1610G= (p.Gly537=)
n.291G=
n.986C=
c.1775G= (p.Gly592=)
c.1679G= (p.Gly560=)
c.1505G= (p.Gly502=)
c.1727G= (p.Gly576=)
4g.186288508G>TCA358946040F11,F11-AS1c.1772G>T (p.Gly591Val)
c.372G>T
c.1610G>T (p.Gly537Val)
n.291G>T
n.986C>A
c.1775G>T (p.Gly592Val)
c.1679G>T (p.Gly560Val)
c.1505G>T (p.Gly502Val)
c.1727G>T (p.Gly576Val)
4g.186288509C>ACA442641370F11,F11-AS1c.1773C>A (p.Gly591=)
c.373C>A
c.1611C>A (p.Gly537=)
n.292C>A
n.985G>T
c.1776C>A (p.Gly592=)
c.1680C>A (p.Gly560=)
c.1506C>A (p.Gly502=)
c.1728C>A (p.Gly576=)
4g.186288509C=CA1519939825F11,F11-AS1c.1773C= (p.Gly591=)
c.373C=
c.1611C= (p.Gly537=)
n.292C=
n.985G=
c.1776C= (p.Gly592=)
c.1680C= (p.Gly560=)
c.1506C= (p.Gly502=)
c.1728C= (p.Gly576=)
4g.186288509C>GCA442641371F11,F11-AS1c.1773C>G (p.Gly591=)
c.373C>G
c.1611C>G (p.Gly537=)
n.292C>G
n.985G>C
c.1776C>G (p.Gly592=)
c.1680C>G (p.Gly560=)
c.1506C>G (p.Gly502=)
c.1728C>G (p.Gly576=)
4g.186288509C>TCA442641372F11,F11-AS1c.1773C>T (p.Gly591=)
c.373C>T
c.1611C>T (p.Gly537=)
n.292C>T
n.985G>A
c.1776C>T (p.Gly592=)
c.1680C>T (p.Gly560=)
c.1506C>T (p.Gly502=)
c.1728C>T (p.Gly576=)
 dbSNP gnomAD v3 gnomAD v4
4g.186288510A=CA1519939826F11,F11-AS1c.1774A= (p.Ile592=)
c.374A=
c.1612A= (p.Ile538=)
n.293A=
n.984T=
c.1777A= (p.Ile593=)
c.1681A= (p.Ile561=)
c.1507A= (p.Ile503=)
c.1729A= (p.Ile577=)
4g.186288510A>CCA358946044F11,F11-AS1c.1774A>C (p.Ile592Leu)
c.374A>C
c.1612A>C (p.Ile538Leu)
n.293A>C
n.984T>G
c.1777A>C (p.Ile593Leu)
c.1681A>C (p.Ile561Leu)
c.1507A>C (p.Ile503Leu)
c.1729A>C (p.Ile577Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.186288510A>GCA358946046F11,F11-AS1c.1774A>G (p.Ile592Val)
c.374A>G
c.1612A>G (p.Ile538Val)
n.293A>G
n.984T>C
c.1777A>G (p.Ile593Val)
c.1681A>G (p.Ile561Val)
c.1507A>G (p.Ile503Val)
c.1729A>G (p.Ile577Val)
4g.186288510A>TCA358946042F11,F11-AS1c.1774A>T (p.Ile592Phe)
c.374A>T
c.1612A>T (p.Ile538Phe)
n.293A>T
n.984T>A
c.1777A>T (p.Ile593Phe)
c.1681A>T (p.Ile561Phe)
c.1507A>T (p.Ile503Phe)
c.1729A>T (p.Ile577Phe)
4g.186288511T>ACA358946048F11,F11-AS1c.1775T>A (p.Ile592Asn)
c.375T>A
c.1613T>A (p.Ile538Asn)
n.294T>A
n.983A>T
c.1778T>A (p.Ile593Asn)
c.1682T>A (p.Ile561Asn)
c.1508T>A (p.Ile503Asn)
c.1730T>A (p.Ile577Asn)
4g.186288511T>CCA358946050F11,F11-AS1c.1775T>C (p.Ile592Thr)
c.375T>C
c.1613T>C (p.Ile538Thr)
n.294T>C
n.983A>G
c.1778T>C (p.Ile593Thr)
c.1682T>C (p.Ile561Thr)
c.1508T>C (p.Ile503Thr)
c.1730T>C (p.Ile577Thr)
4g.186288511T>GCA358946052F11,F11-AS1c.1775T>G (p.Ile592Ser)
c.375T>G
c.1613T>G (p.Ile538Ser)
n.294T>G
n.983A>C
c.1778T>G (p.Ile593Ser)
c.1682T>G (p.Ile561Ser)
c.1508T>G (p.Ile503Ser)
c.1730T>G (p.Ile577Ser)
4g.186288512C>ACA442641373F11,F11-AS1c.1776C>A (p.Ile592=)
c.376C>A
c.1614C>A (p.Ile538=)
n.295C>A
n.982G>T
c.1779C>A (p.Ile593=)
c.1683C>A (p.Ile561=)
c.1509C>A (p.Ile503=)
c.1731C>A (p.Ile577=)
4g.186288512C=CA1519939827F11,F11-AS1c.1776C= (p.Ile592=)
c.376C=
c.1614C= (p.Ile538=)
n.295C=
n.982G=
c.1779C= (p.Ile593=)
c.1683C= (p.Ile561=)
c.1509C= (p.Ile503=)
c.1731C= (p.Ile577=)
4g.186288512C>GCA358946054F11,F11-AS1c.1776C>G (p.Ile592Met)
c.376C>G
c.1614C>G (p.Ile538Met)
n.295C>G
n.982G>C
c.1779C>G (p.Ile593Met)
c.1683C>G (p.Ile561Met)
c.1509C>G (p.Ile503Met)
c.1731C>G (p.Ile577Met)
 gnomAD v4
4g.186288512C>TCA3164120F11,F11-AS1c.1776C>T (p.Ile592=)
c.376C>T
c.1614C>T (p.Ile538=)
n.295C>T
n.982G>A
c.1779C>T (p.Ile593=)
c.1683C>T (p.Ile561=)
c.1509C>T (p.Ile503=)
c.1731C>T (p.Ile577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288513A=CA1519939828F11,F11-AS1c.1777A= (p.Thr593=)
c.377A=
c.1615A= (p.Thr539=)
n.296A=
n.981T=
c.1780A= (p.Thr594=)
c.1684A= (p.Thr562=)
c.1510A= (p.Thr504=)
c.1732A= (p.Thr578=)
4g.186288513A>CCA358946057F11,F11-AS1c.1777A>C (p.Thr593Pro)
c.377A>C
c.1615A>C (p.Thr539Pro)
n.296A>C
n.981T>G
c.1780A>C (p.Thr594Pro)
c.1684A>C (p.Thr562Pro)
c.1510A>C (p.Thr504Pro)
c.1732A>C (p.Thr578Pro)
4g.186288513A>GCA358946059F11,F11-AS1c.1777A>G (p.Thr593Ala)
c.377A>G
c.1615A>G (p.Thr539Ala)
n.296A>G
n.981T>C
c.1780A>G (p.Thr594Ala)
c.1684A>G (p.Thr562Ala)
c.1510A>G (p.Thr504Ala)
c.1732A>G (p.Thr578Ala)
 ClinVar dbSNP gnomAD v4
4g.186288513A>TCA358946061F11,F11-AS1c.1777A>T (p.Thr593Ser)
c.377A>T
c.1615A>T (p.Thr539Ser)
n.296A>T
n.981T>A
c.1780A>T (p.Thr594Ser)
c.1684A>T (p.Thr562Ser)
c.1510A>T (p.Thr504Ser)
c.1732A>T (p.Thr578Ser)
 ClinVar gnomAD v4
4g.186288514C>ACA358946063F11,F11-AS1c.1778C>A (p.Thr593Lys)
c.378C>A
c.1616C>A (p.Thr539Lys)
n.297C>A
n.980G>T
c.1781C>A (p.Thr594Lys)
c.1685C>A (p.Thr562Lys)
c.1511C>A (p.Thr504Lys)
c.1733C>A (p.Thr578Lys)
4g.186288514C=CA1519939829F11,F11-AS1c.1778C= (p.Thr593=)
c.378C=
c.1616C= (p.Thr539=)
n.297C=
n.980G=
c.1781C= (p.Thr594=)
c.1685C= (p.Thr562=)
c.1511C= (p.Thr504=)
c.1733C= (p.Thr578=)
4g.186288514C>GCA358946065F11,F11-AS1c.1778C>G (p.Thr593Arg)
c.378C>G
c.1616C>G (p.Thr539Arg)
n.297C>G
n.980G>C
c.1781C>G (p.Thr594Arg)
c.1685C>G (p.Thr562Arg)
c.1511C>G (p.Thr504Arg)
c.1733C>G (p.Thr578Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.186288514C>TCA3164121F11,F11-AS1c.1778C>T (p.Thr593Met)
c.378C>T
c.1616C>T (p.Thr539Met)
n.297C>T
n.980G>A
c.1781C>T (p.Thr594Met)
c.1685C>T (p.Thr562Met)
c.1511C>T (p.Thr504Met)
c.1733C>T (p.Thr578Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288515G>ACA442641374F11,F11-AS1c.1779G>A (p.Thr593=)
c.379G>A
c.1617G>A (p.Thr539=)
n.298G>A
n.979C>T
c.1782G>A (p.Thr594=)
c.1686G>A (p.Thr562=)
c.1512G>A (p.Thr504=)
c.1734G>A (p.Thr578=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
4g.186288515G>CCA442641375F11,F11-AS1c.1779G>C (p.Thr593=)
c.379G>C
c.1617G>C (p.Thr539=)
n.298G>C
n.979C>G
c.1782G>C (p.Thr594=)
c.1686G>C (p.Thr562=)
c.1512G>C (p.Thr504=)
c.1734G>C (p.Thr578=)
4g.186288515G>TCA442641376F11,F11-AS1c.1779G>T (p.Thr593=)
c.379G>T
c.1617G>T (p.Thr539=)
n.298G>T
n.979C>A
c.1782G>T (p.Thr594=)
c.1686G>T (p.Thr562=)
c.1512G>T (p.Thr504=)
c.1734G>T (p.Thr578=)
 gnomAD v4
4g.186288516A>CCA358946072F11,F11-AS1c.1780A>C (p.Ser594Arg)
c.380A>C
c.1618A>C (p.Ser540Arg)
n.299A>C
n.978T>G
c.1783A>C (p.Ser595Arg)
c.1687A>C (p.Ser563Arg)
c.1513A>C (p.Ser505Arg)
c.1735A>C (p.Ser579Arg)
4g.186288516A>GCA358946071F11,F11-AS1c.1780A>G (p.Ser594Gly)
c.380A>G
c.1618A>G (p.Ser540Gly)
n.299A>G
n.978T>C
c.1783A>G (p.Ser595Gly)
c.1687A>G (p.Ser563Gly)
c.1513A>G (p.Ser505Gly)
c.1735A>G (p.Ser579Gly)
4g.186288516A>TCA358946069F11,F11-AS1c.1780A>T (p.Ser594Cys)
c.380A>T
c.1618A>T (p.Ser540Cys)
n.299A>T
n.978T>A
c.1783A>T (p.Ser595Cys)
c.1687A>T (p.Ser563Cys)
c.1513A>T (p.Ser505Cys)
c.1735A>T (p.Ser579Cys)
4g.186288517G>ACA358946075F11,F11-AS1c.1781G>A (p.Ser594Asn)
c.381G>A
c.1619G>A (p.Ser540Asn)
n.300G>A
n.977C>T
c.1784G>A (p.Ser595Asn)
c.1688G>A (p.Ser563Asn)
c.1514G>A (p.Ser505Asn)
c.1736G>A (p.Ser579Asn)
4g.186288517G>CCA358946077F11,F11-AS1c.1781G>C (p.Ser594Thr)
c.381G>C
c.1619G>C (p.Ser540Thr)
n.300G>C
n.977C>G
c.1784G>C (p.Ser595Thr)
c.1688G>C (p.Ser563Thr)
c.1514G>C (p.Ser505Thr)
c.1736G>C (p.Ser579Thr)
4g.186288517G>TCA358946078F11,F11-AS1c.1781G>T (p.Ser594Ile)
c.381G>T
c.1619G>T (p.Ser540Ile)
n.300G>T
n.977C>A
c.1784G>T (p.Ser595Ile)
c.1688G>T (p.Ser563Ile)
c.1514G>T (p.Ser505Ile)
c.1736G>T (p.Ser579Ile)
4g.186288518C>ACA121761F11,F11-AS1c.1782C>A (p.Ser594Arg)
c.382C>A
c.1620C>A (p.Ser540Arg)
n.301C>A
n.976G>T
c.1785C>A (p.Ser595Arg)
c.1689C>A (p.Ser563Arg)
c.1515C>A (p.Ser505Arg)
c.1737C>A (p.Ser579Arg)
 ClinVar dbSNP gnomAD v4
4g.186288518C=CA1519939830F11,F11-AS1c.1782C= (p.Ser594=)
c.382C=
c.1620C= (p.Ser540=)
n.301C=
n.976G=
c.1785C= (p.Ser595=)
c.1689C= (p.Ser563=)
c.1515C= (p.Ser505=)
c.1737C= (p.Ser579=)
4g.186288518C>GCA358946080F11,F11-AS1c.1782C>G (p.Ser594Arg)
c.382C>G
c.1620C>G (p.Ser540Arg)
n.301C>G
n.976G>C
c.1785C>G (p.Ser595Arg)
c.1689C>G (p.Ser563Arg)
c.1515C>G (p.Ser505Arg)
c.1737C>G (p.Ser579Arg)
4g.186288518C>TCA442641377F11,F11-AS1c.1782C>T (p.Ser594=)
c.382C>T
c.1620C>T (p.Ser540=)
n.301C>T
n.976G>A
c.1785C>T (p.Ser595=)
c.1689C>T (p.Ser563=)
c.1515C>T (p.Ser505=)
c.1737C>T (p.Ser579=)
 ClinVar dbSNP gnomAD v4
4g.186288519T>ACA3164122F11,F11-AS1c.1783T>A (p.Trp595Arg)
c.383T>A
c.1621T>A (p.Trp541Arg)
n.302T>A
n.975A>T
c.1786T>A (p.Trp596Arg)
c.1690T>A (p.Trp564Arg)
c.1516T>A (p.Trp506Arg)
c.1738T>A (p.Trp580Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.186288519T>CCA358946083F11,F11-AS1c.1783T>C (p.Trp595Arg)
c.383T>C
c.1621T>C (p.Trp541Arg)
n.302T>C
n.975A>G
c.1786T>C (p.Trp596Arg)
c.1690T>C (p.Trp564Arg)
c.1516T>C (p.Trp506Arg)
c.1738T>C (p.Trp580Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.186288519T>GCA358946085F11,F11-AS1c.1783T>G (p.Trp595Gly)
c.383T>G
c.1621T>G (p.Trp541Gly)
n.302T>G
n.975A>C
c.1786T>G (p.Trp596Gly)
c.1690T>G (p.Trp564Gly)
c.1516T>G (p.Trp506Gly)
c.1738T>G (p.Trp580Gly)
4g.186288519T=CA1519939831F11,F11-AS1c.1783T= (p.Trp595=)
c.383T=
c.1621T= (p.Trp541=)
n.302T=
n.975A=
c.1786T= (p.Trp596=)
c.1690T= (p.Trp564=)
c.1516T= (p.Trp506=)
c.1738T= (p.Trp580=)
4g.186288520G>ACA3164123F11,F11-AS1c.1784G>A (p.Trp595Ter)
c.384G>A
c.1622G>A (p.Trp541Ter)
n.303G>A
n.974C>T
c.1787G>A (p.Trp596Ter)
c.1691G>A (p.Trp564Ter)
c.1517G>A (p.Trp506Ter)
c.1739G>A (p.Trp580Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288520G>CCA358946088F11,F11-AS1c.1784G>C (p.Trp595Ser)
c.384G>C
c.1622G>C (p.Trp541Ser)
n.303G>C
n.974C>G
c.1787G>C (p.Trp596Ser)
c.1691G>C (p.Trp564Ser)
c.1517G>C (p.Trp506Ser)
c.1739G>C (p.Trp580Ser)
4g.186288520G=CA1519939832F11,F11-AS1c.1784G= (p.Trp595=)
c.384G=
c.1622G= (p.Trp541=)
n.303G=
n.974C=
c.1787G= (p.Trp596=)
c.1691G= (p.Trp564=)
c.1517G= (p.Trp506=)
c.1739G= (p.Trp580=)
4g.186288520G>TCA358946090F11,F11-AS1c.1784G>T (p.Trp595Leu)
c.384G>T
c.1622G>T (p.Trp541Leu)
n.303G>T
n.974C>A
c.1787G>T (p.Trp596Leu)
c.1691G>T (p.Trp564Leu)
c.1517G>T (p.Trp506Leu)
c.1739G>T (p.Trp580Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.186288521G>ACA358946097F11,F11-AS1c.1785G>A (p.Trp595Ter)
c.385G>A
c.1623G>A (p.Trp541Ter)
n.304G>A
n.973C>T
c.1788G>A (p.Trp596Ter)
c.1692G>A (p.Trp564Ter)
c.1518G>A (p.Trp506Ter)
c.1740G>A (p.Trp580Ter)
4g.186288521G>CCA358946095F11,F11-AS1c.1785G>C (p.Trp595Cys)
c.385G>C
c.1623G>C (p.Trp541Cys)
n.304G>C
n.973C>G
c.1788G>C (p.Trp596Cys)
c.1692G>C (p.Trp564Cys)
c.1518G>C (p.Trp506Cys)
c.1740G>C (p.Trp580Cys)
4g.186288521G>TCA358946093F11,F11-AS1c.1785G>T (p.Trp595Cys)
c.385G>T
c.1623G>T (p.Trp541Cys)
n.304G>T
n.973C>A
c.1788G>T (p.Trp596Cys)
c.1692G>T (p.Trp564Cys)
c.1518G>T (p.Trp506Cys)
c.1740G>T (p.Trp580Cys)
4g.186288521_186288527delinsGGGCGAACA1519939833F11,F11-AS1c.1785_1791delinsGGGCGAA (p.Trp595=)
c.385_391delinsGGGCGAA
c.1623_1629delinsGGGCGAA (p.Trp541=)
n.304_310delinsGGGCGAA
n.967_973delinsTTCGCCC
c.1788_1794delinsGGGCGAA (p.Trp596=)
c.1692_1698delinsGGGCGAA (p.Trp564=)
c.1518_1524delinsGGGCGAA (p.Trp506=)
c.1740_1746delinsGGGCGAA (p.Trp580=)
4g.186288522G>ACA358946099F11,F11-AS1c.1786G>A (p.Gly596Ser)
c.386G>A
c.1624G>A (p.Gly542Ser)
n.305G>A
n.972C>T
c.1789G>A (p.Gly597Ser)
c.1693G>A (p.Gly565Ser)
c.1519G>A (p.Gly507Ser)
c.1741G>A (p.Gly581Ser)
4g.186288522G>CCA358946101F11,F11-AS1c.1786G>C (p.Gly596Arg)
c.386G>C
c.1624G>C (p.Gly542Arg)
n.305G>C
n.972C>G
c.1789G>C (p.Gly597Arg)
c.1693G>C (p.Gly565Arg)
c.1519G>C (p.Gly507Arg)
c.1741G>C (p.Gly581Arg)
4g.186288522G=CA1519939834F11,F11-AS1c.1786G= (p.Gly596=)
c.386G=
c.1624G= (p.Gly542=)
n.305G=
n.972C=
c.1789G= (p.Gly597=)
c.1693G= (p.Gly565=)
c.1519G= (p.Gly507=)
c.1741G= (p.Gly581=)
4g.186288522G>TCA358946102F11,F11-AS1c.1786G>T (p.Gly596Cys)
c.386G>T
c.1624G>T (p.Gly542Cys)
n.305G>T
n.972C>A
c.1789G>T (p.Gly597Cys)
c.1693G>T (p.Gly565Cys)
c.1519G>T (p.Gly507Cys)
c.1741G>T (p.Gly581Cys)
 dbSNP
4g.186288523_186288525dupCA2672904153F11,F11-AS1c.1787_1789dup (p.Gly596_Glu597insGly)
c.387_389dup
c.1625_1627dup (p.Gly542_Glu543insGly)
n.306_308dup
n.970_972dup
c.1790_1792dup (p.Gly597_Glu598insGly)
c.1694_1696dup (p.Gly565_Glu566insGly)
c.1520_1522dup (p.Gly507_Glu508insGly)
c.1742_1744dup (p.Gly581_Glu582insGly)
 gnomAD v4
4g.186288525_186288530delCA1071927986F11,F11-AS1c.1789_1794del (p.Glu597_Gly598del)
c.389_394del
c.1627_1632del (p.Glu543_Gly544del)
n.308_313del
n.967_972del
c.1792_1797del (p.Glu598_Gly599del)
c.1696_1701del (p.Glu566_Gly567del)
c.1522_1527del (p.Glu508_Gly509del)
c.1744_1749del (p.Glu582_Gly583del)
 dbSNP gnomAD v3 gnomAD v4
4g.186288523G>ACA3164124F11,F11-AS1c.1787G>A (p.Gly596Asp)
c.387G>A
c.1625G>A (p.Gly542Asp)
n.306G>A
n.971C>T
c.1790G>A (p.Gly597Asp)
c.1694G>A (p.Gly565Asp)
c.1520G>A (p.Gly507Asp)
c.1742G>A (p.Gly581Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288523G>CCA358946106F11,F11-AS1c.1787G>C (p.Gly596Ala)
c.387G>C
c.1625G>C (p.Gly542Ala)
n.306G>C
n.971C>G
c.1790G>C (p.Gly597Ala)
c.1694G>C (p.Gly565Ala)
c.1520G>C (p.Gly507Ala)
c.1742G>C (p.Gly581Ala)
4g.186288523G=CA1519939835F11,F11-AS1c.1787G= (p.Gly596=)
c.387G=
c.1625G= (p.Gly542=)
n.306G=
n.971C=
c.1790G= (p.Gly597=)
c.1694G= (p.Gly565=)
c.1520G= (p.Gly507=)
c.1742G= (p.Gly581=)
4g.186288523G>TCA358946107F11,F11-AS1c.1787G>T (p.Gly596Val)
c.387G>T
c.1625G>T (p.Gly542Val)
n.306G>T
n.971C>A
c.1790G>T (p.Gly597Val)
c.1694G>T (p.Gly565Val)
c.1520G>T (p.Gly507Val)
c.1742G>T (p.Gly581Val)
4g.186288524C>ACA442641378F11,F11-AS1c.1788C>A (p.Gly596=)
c.388C>A
c.1626C>A (p.Gly542=)
n.307C>A
n.970G>T
c.1791C>A (p.Gly597=)
c.1695C>A (p.Gly565=)
c.1521C>A (p.Gly507=)
c.1743C>A (p.Gly581=)
 ClinVar
4g.186288524C=CA1519939836F11,F11-AS1c.1788C= (p.Gly596=)
c.388C=
c.1626C= (p.Gly542=)
n.307C=
n.970G=
c.1791C= (p.Gly597=)
c.1695C= (p.Gly565=)
c.1521C= (p.Gly507=)
c.1743C= (p.Gly581=)
4g.186288524C>GCA442641379F11,F11-AS1c.1788C>G (p.Gly596=)
c.388C>G
c.1626C>G (p.Gly542=)
n.307C>G
n.970G>C
c.1791C>G (p.Gly597=)
c.1695C>G (p.Gly565=)
c.1521C>G (p.Gly507=)
c.1743C>G (p.Gly581=)
4g.186288524C>TCA442641380F11,F11-AS1c.1788C>T (p.Gly596=)
c.388C>T
c.1626C>T (p.Gly542=)
n.307C>T
n.970G>A
c.1791C>T (p.Gly597=)
c.1695C>T (p.Gly565=)
c.1521C>T (p.Gly507=)
c.1743C>T (p.Gly581=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186288524dupCA2708194158F11,F11-AS1c.1788dup (p.Glu597ArgfsTer?)
c.388dup
c.1626dup (p.Glu543ArgfsTer?)
n.307dup
n.970dup
c.1791dup (p.Glu598ArgfsTer?)
c.1695dup (p.Glu566ArgfsTer?)
c.1521dup (p.Glu508ArgfsTer?)
c.1743dup (p.Glu582ArgfsTer?)
 dbSNP
4g.186288525G>ACA219130F11,F11-AS1c.1789G>A (p.Glu597Lys)
c.389G>A
c.1627G>A (p.Glu543Lys)
n.308G>A
n.969C>T
c.1792G>A (p.Glu598Lys)
c.1696G>A (p.Glu566Lys)
c.1522G>A (p.Glu508Lys)
c.1744G>A (p.Glu582Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288525G>CCA358946110F11,F11-AS1c.1789G>C (p.Glu597Gln)
c.389G>C
c.1627G>C (p.Glu543Gln)
n.308G>C
n.969C>G
c.1792G>C (p.Glu598Gln)
c.1696G>C (p.Glu566Gln)
c.1522G>C (p.Glu508Gln)
c.1744G>C (p.Glu582Gln)
4g.186288525G=CA1519939837F11,F11-AS1c.1789G= (p.Glu597=)
c.389G=
c.1627G= (p.Glu543=)
n.308G=
n.969C=
c.1792G= (p.Glu598=)
c.1696G= (p.Glu566=)
c.1522G= (p.Glu508=)
c.1744G= (p.Glu582=)
4g.186288525G>TCA16040952F11,F11-AS1c.1789G>T (p.Glu597Ter)
c.389G>T
c.1627G>T (p.Glu543Ter)
n.308G>T
n.969C>A
c.1792G>T (p.Glu598Ter)
c.1696G>T (p.Glu566Ter)
c.1522G>T (p.Glu508Ter)
c.1744G>T (p.Glu582Ter)
 ClinVar dbSNP gnomAD v4
4g.186288526A>CCA358946114F11,F11-AS1c.1790A>C (p.Glu597Ala)
c.390A>C
c.1628A>C (p.Glu543Ala)
n.309A>C
n.968T>G
c.1793A>C (p.Glu598Ala)
c.1697A>C (p.Glu566Ala)
c.1523A>C (p.Glu508Ala)
c.1745A>C (p.Glu582Ala)
4g.186288526A>GCA358946116F11,F11-AS1c.1790A>G (p.Glu597Gly)
c.390A>G
c.1628A>G (p.Glu543Gly)
n.309A>G
n.968T>C
c.1793A>G (p.Glu598Gly)
c.1697A>G (p.Glu566Gly)
c.1523A>G (p.Glu508Gly)
c.1745A>G (p.Glu582Gly)
4g.186288526A>TCA358946118F11,F11-AS1c.1790A>T (p.Glu597Val)
c.390A>T
c.1628A>T (p.Glu543Val)
n.309A>T
n.968T>A
c.1793A>T (p.Glu598Val)
c.1697A>T (p.Glu566Val)
c.1523A>T (p.Glu508Val)
c.1745A>T (p.Glu582Val)
4g.186288527A>CCA358946120F11,F11-AS1c.1791A>C (p.Glu597Asp)
c.391A>C
c.1629A>C (p.Glu543Asp)
n.310A>C
n.967T>G
c.1794A>C (p.Glu598Asp)
c.1698A>C (p.Glu566Asp)
c.1524A>C (p.Glu508Asp)
c.1746A>C (p.Glu582Asp)
4g.186288527A>GCA442641381F11,F11-AS1c.1791A>G (p.Glu597=)
c.391A>G
c.1629A>G (p.Glu543=)
n.310A>G
n.967T>C
c.1794A>G (p.Glu598=)
c.1698A>G (p.Glu566=)
c.1524A>G (p.Glu508=)
c.1746A>G (p.Glu582=)
 COSMIC COSMIC
4g.186288527A>TCA358946122F11,F11-AS1c.1791A>T (p.Glu597Asp)
c.391A>T
c.1629A>T (p.Glu543Asp)
n.310A>T
n.967T>A
c.1794A>T (p.Glu598Asp)
c.1698A>T (p.Glu566Asp)
c.1524A>T (p.Glu508Asp)
c.1746A>T (p.Glu582Asp)
4g.186288528G>ACA358946128F11,F11-AS1c.1792G>A (p.Gly598Ser)
c.392G>A
c.1630G>A (p.Gly544Ser)
n.311G>A
n.966C>T
c.1795G>A (p.Gly599Ser)
c.1699G>A (p.Gly567Ser)
c.1525G>A (p.Gly509Ser)
c.1747G>A (p.Gly583Ser)
4g.186288528G>CCA358946124F11,F11-AS1c.1792G>C (p.Gly598Arg)
c.392G>C
c.1630G>C (p.Gly544Arg)
n.311G>C
n.966C>G
c.1795G>C (p.Gly599Arg)
c.1699G>C (p.Gly567Arg)
c.1525G>C (p.Gly509Arg)
c.1747G>C (p.Gly583Arg)
4g.186288528G>TCA358946126F11,F11-AS1c.1792G>T (p.Gly598Cys)
c.392G>T
c.1630G>T (p.Gly544Cys)
n.311G>T
n.966C>A
c.1795G>T (p.Gly599Cys)
c.1699G>T (p.Gly567Cys)
c.1525G>T (p.Gly509Cys)
c.1747G>T (p.Gly583Cys)
4g.186288529G>ACA358946131F11,F11-AS1c.1793G>A (p.Gly598Asp)
c.393G>A
c.1631G>A (p.Gly544Asp)
n.312G>A
n.965C>T
c.1796G>A (p.Gly599Asp)
c.1700G>A (p.Gly567Asp)
c.1526G>A (p.Gly509Asp)
c.1748G>A (p.Gly583Asp)
4g.186288529G>CCA358946132F11,F11-AS1c.1793G>C (p.Gly598Ala)
c.393G>C
c.1631G>C (p.Gly544Ala)
n.312G>C
n.965C>G
c.1796G>C (p.Gly599Ala)
c.1700G>C (p.Gly567Ala)
c.1526G>C (p.Gly509Ala)
c.1748G>C (p.Gly583Ala)
4g.186288529G>TCA358946134F11,F11-AS1c.1793G>T (p.Gly598Val)
c.393G>T
c.1631G>T (p.Gly544Val)
n.312G>T
n.965C>A
c.1796G>T (p.Gly599Val)
c.1700G>T (p.Gly567Val)
c.1526G>T (p.Gly509Val)
c.1748G>T (p.Gly583Val)
4g.186288530C>ACA442641382F11,F11-AS1c.1794C>A (p.Gly598=)
c.394C>A
c.1632C>A (p.Gly544=)
n.313C>A
n.964G>T
c.1797C>A (p.Gly599=)
c.1701C>A (p.Gly567=)
c.1527C>A (p.Gly509=)
c.1749C>A (p.Gly583=)
4g.186288530C=CA1519939838F11,F11-AS1c.1794C= (p.Gly598=)
c.394C=
c.1632C= (p.Gly544=)
n.313C=
n.964G=
c.1797C= (p.Gly599=)
c.1701C= (p.Gly567=)
c.1527C= (p.Gly509=)
c.1749C= (p.Gly583=)
4g.186288530C>GCA442641383F11,F11-AS1c.1794C>G (p.Gly598=)
c.394C>G
c.1632C>G (p.Gly544=)
n.313C>G
n.964G>C
c.1797C>G (p.Gly599=)
c.1701C>G (p.Gly567=)
c.1527C>G (p.Gly509=)
c.1749C>G (p.Gly583=)
4g.186288530C>TCA3164125F11,F11-AS1c.1794C>T (p.Gly598=)
c.394C>T
c.1632C>T (p.Gly544=)
n.313C>T
n.964G>A
c.1797C>T (p.Gly599=)
c.1701C>T (p.Gly567=)
c.1527C>T (p.Gly509=)
c.1749C>T (p.Gly583=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288531T>ACA358946138F11,F11-AS1c.1795T>A (p.Cys599Ser)
c.395T>A
c.1633T>A (p.Cys545Ser)
n.314T>A
n.963A>T
c.1798T>A (p.Cys600Ser)
c.1702T>A (p.Cys568Ser)
c.1528T>A (p.Cys510Ser)
c.1750T>A (p.Cys584Ser)
4g.186288531T>CCA358946141F11,F11-AS1c.1795T>C (p.Cys599Arg)
c.395T>C
c.1633T>C (p.Cys545Arg)
n.314T>C
n.963A>G
c.1798T>C (p.Cys600Arg)
c.1702T>C (p.Cys568Arg)
c.1528T>C (p.Cys510Arg)
c.1750T>C (p.Cys584Arg)
4g.186288531T>GCA358946142F11,F11-AS1c.1795T>G (p.Cys599Gly)
c.395T>G
c.1633T>G (p.Cys545Gly)
n.314T>G
n.963A>C
c.1798T>G (p.Cys600Gly)
c.1702T>G (p.Cys568Gly)
c.1528T>G (p.Cys510Gly)
c.1750T>G (p.Cys584Gly)
4g.186288532G>ACA358946145F11,F11-AS1c.1796G>A (p.Cys599Tyr)
c.396G>A
c.1634G>A (p.Cys545Tyr)
n.315G>A
n.962C>T
c.1799G>A (p.Cys600Tyr)
c.1703G>A (p.Cys568Tyr)
c.1529G>A (p.Cys510Tyr)
c.1751G>A (p.Cys584Tyr)
4g.186288532G>CCA358946147F11,F11-AS1c.1796G>C (p.Cys599Ser)
c.396G>C
c.1634G>C (p.Cys545Ser)
n.315G>C
n.962C>G
c.1799G>C (p.Cys600Ser)
c.1703G>C (p.Cys568Ser)
c.1529G>C (p.Cys510Ser)
c.1751G>C (p.Cys584Ser)
4g.186288532G=CA1519939839F11,F11-AS1c.1796G= (p.Cys599=)
c.396G=
c.1634G= (p.Cys545=)
n.315G=
n.962C=
c.1799G= (p.Cys600=)
c.1703G= (p.Cys568=)
c.1529G= (p.Cys510=)
c.1751G= (p.Cys584=)
4g.186288532G>TCA358946149F11,F11-AS1c.1796G>T (p.Cys599Phe)
c.396G>T
c.1634G>T (p.Cys545Phe)
n.315G>T
n.962C>A
c.1799G>T (p.Cys600Phe)
c.1703G>T (p.Cys568Phe)
c.1529G>T (p.Cys510Phe)
c.1751G>T (p.Cys584Phe)
 dbSNP
4g.186288533T>ACA358946152F11,F11-AS1c.1797T>A (p.Cys599Ter)
c.397T>A
c.1635T>A (p.Cys545Ter)
n.316T>A
n.961A>T
c.1800T>A (p.Cys600Ter)
c.1704T>A (p.Cys568Ter)
c.1530T>A (p.Cys510Ter)
c.1752T>A (p.Cys584Ter)
4g.186288533T>CCA442641384F11,F11-AS1c.1797T>C (p.Cys599=)
c.397T>C
c.1635T>C (p.Cys545=)
n.316T>C
n.961A>G
c.1800T>C (p.Cys600=)
c.1704T>C (p.Cys568=)
c.1530T>C (p.Cys510=)
c.1752T>C (p.Cys584=)
 dbSNP gnomAD v2 gnomAD v4
4g.186288533T>GCA358946153F11,F11-AS1c.1797T>G (p.Cys599Trp)
c.397T>G
c.1635T>G (p.Cys545Trp)
n.316T>G
n.961A>C
c.1800T>G (p.Cys600Trp)
c.1704T>G (p.Cys568Trp)
c.1530T>G (p.Cys510Trp)
c.1752T>G (p.Cys584Trp)
4g.186288533T=CA1519939840F11,F11-AS1c.1797T= (p.Cys599=)
c.397T=
c.1635T= (p.Cys545=)
n.316T=
n.961A=
c.1800T= (p.Cys600=)
c.1704T= (p.Cys568=)
c.1530T= (p.Cys510=)
c.1752T= (p.Cys584=)
4g.186288534G>ACA3164126F11,F11-AS1c.1798G>A (p.Ala600Thr)
c.398G>A
c.1636G>A (p.Ala546Thr)
n.317G>A
n.960C>T
c.1801G>A (p.Ala601Thr)
c.1705G>A (p.Ala569Thr)
c.1531G>A (p.Ala511Thr)
c.1753G>A (p.Ala585Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288534G>CCA358946158F11,F11-AS1c.1798G>C (p.Ala600Pro)
c.398G>C
c.1636G>C (p.Ala546Pro)
n.317G>C
n.960C>G
c.1801G>C (p.Ala601Pro)
c.1705G>C (p.Ala569Pro)
c.1531G>C (p.Ala511Pro)
c.1753G>C (p.Ala585Pro)
4g.186288534G=CA1519939841F11,F11-AS1c.1798G= (p.Ala600=)
c.398G=
c.1636G= (p.Ala546=)
n.317G=
n.960C=
c.1801G= (p.Ala601=)
c.1705G= (p.Ala569=)
c.1531G= (p.Ala511=)
c.1753G= (p.Ala585=)
4g.186288534G>TCA358946157F11,F11-AS1c.1798G>T (p.Ala600Ser)
c.398G>T
c.1636G>T (p.Ala546Ser)
n.317G>T
n.960C>A
c.1801G>T (p.Ala601Ser)
c.1705G>T (p.Ala569Ser)
c.1531G>T (p.Ala511Ser)
c.1753G>T (p.Ala585Ser)
4g.186288535C>ACA358946161F11,F11-AS1c.1799C>A (p.Ala600Asp)
c.399C>A
c.1637C>A (p.Ala546Asp)
n.318C>A
n.959G>T
c.1802C>A (p.Ala601Asp)
c.1706C>A (p.Ala569Asp)
c.1532C>A (p.Ala511Asp)
c.1754C>A (p.Ala585Asp)
4g.186288535C>GCA358946163F11,F11-AS1c.1799C>G (p.Ala600Gly)
c.399C>G
c.1637C>G (p.Ala546Gly)
n.318C>G
n.959G>C
c.1802C>G (p.Ala601Gly)
c.1706C>G (p.Ala569Gly)
c.1532C>G (p.Ala511Gly)
c.1754C>G (p.Ala585Gly)
4g.186288535C>TCA358946169F11,F11-AS1c.1799C>T (p.Ala600Val)
c.399C>T
c.1637C>T (p.Ala546Val)
n.318C>T
n.959G>A
c.1802C>T (p.Ala601Val)
c.1706C>T (p.Ala569Val)
c.1532C>T (p.Ala511Val)
c.1754C>T (p.Ala585Val)
4g.186288536T>ACA442641385F11,F11-AS1c.1800T>A (p.Ala600=)
c.400T>A
c.1638T>A (p.Ala546=)
n.319T>A
n.958A>T
c.1803T>A (p.Ala601=)
c.1707T>A (p.Ala569=)
c.1533T>A (p.Ala511=)
c.1755T>A (p.Ala585=)
4g.186288536T>CCA442641386F11,F11-AS1c.1800T>C (p.Ala600=)
c.400T>C
c.1638T>C (p.Ala546=)
n.319T>C
n.958A>G
c.1803T>C (p.Ala601=)
c.1707T>C (p.Ala569=)
c.1533T>C (p.Ala511=)
c.1755T>C (p.Ala585=)
4g.186288536T>GCA442641387F11,F11-AS1c.1800T>G (p.Ala600=)
c.400T>G
c.1638T>G (p.Ala546=)
n.319T>G
n.958A>C
c.1803T>G (p.Ala601=)
c.1707T>G (p.Ala569=)
c.1533T>G (p.Ala511=)
c.1755T>G (p.Ala585=)
4g.186288537C>ACA358946170F11,F11-AS1c.1801C>A (p.Gln601Lys)
c.401C>A
c.1639C>A (p.Gln547Lys)
n.320C>A
n.957G>T
c.1804C>A (p.Gln602Lys)
c.1708C>A (p.Gln570Lys)
c.1534C>A (p.Gln512Lys)
c.1756C>A (p.Gln586Lys)
4g.186288537C>GCA358946172F11,F11-AS1c.1801C>G (p.Gln601Glu)
c.401C>G
c.1639C>G (p.Gln547Glu)
n.320C>G
n.957G>C
c.1804C>G (p.Gln602Glu)
c.1708C>G (p.Gln570Glu)
c.1534C>G (p.Gln512Glu)
c.1756C>G (p.Gln586Glu)
4g.186288537C>TCA358946174F11,F11-AS1c.1801C>T (p.Gln601Ter)
c.401C>T
c.1639C>T (p.Gln547Ter)
n.320C>T
n.957G>A
c.1804C>T (p.Gln602Ter)
c.1708C>T (p.Gln570Ter)
c.1534C>T (p.Gln512Ter)
c.1756C>T (p.Gln586Ter)
4g.186288538A>CCA358946176F11,F11-AS1c.1802A>C (p.Gln601Pro)
c.402A>C
c.1640A>C (p.Gln547Pro)
n.321A>C
n.956T>G
c.1805A>C (p.Gln602Pro)
c.1709A>C (p.Gln570Pro)
c.1535A>C (p.Gln512Pro)
c.1757A>C (p.Gln586Pro)
4g.186288538A>GCA358946178F11,F11-AS1c.1802A>G (p.Gln601Arg)
c.402A>G
c.1640A>G (p.Gln547Arg)
n.321A>G
n.956T>C
c.1805A>G (p.Gln602Arg)
c.1709A>G (p.Gln570Arg)
c.1535A>G (p.Gln512Arg)
c.1757A>G (p.Gln586Arg)
4g.186288538A>TCA358946180F11,F11-AS1c.1802A>T (p.Gln601Leu)
c.402A>T
c.1640A>T (p.Gln547Leu)
n.321A>T
n.956T>A
c.1805A>T (p.Gln602Leu)
c.1709A>T (p.Gln570Leu)
c.1535A>T (p.Gln512Leu)
c.1757A>T (p.Gln586Leu)
4g.186288539A>CCA358946182F11,F11-AS1c.1803A>C (p.Gln601His)
c.403A>C
c.1641A>C (p.Gln547His)
n.322A>C
n.955T>G
c.1806A>C (p.Gln602His)
c.1710A>C (p.Gln570His)
c.1536A>C (p.Gln512His)
c.1758A>C (p.Gln586His)
4g.186288539A>GCA442641388F11,F11-AS1c.1803A>G (p.Gln601=)
c.403A>G
c.1641A>G (p.Gln547=)
n.322A>G
n.955T>C
c.1806A>G (p.Gln602=)
c.1710A>G (p.Gln570=)
c.1536A>G (p.Gln512=)
c.1758A>G (p.Gln586=)
4g.186288539A>TCA358946183F11,F11-AS1c.1803A>T (p.Gln601His)
c.403A>T
c.1641A>T (p.Gln547His)
n.322A>T
n.955T>A
c.1806A>T (p.Gln602His)
c.1710A>T (p.Gln570His)
c.1536A>T (p.Gln512His)
c.1758A>T (p.Gln586His)
4g.186288540A>CCA442641389F11,F11-AS1c.1804A>C (p.Arg602=)
c.404A>C
c.1642A>C (p.Arg548=)
n.323A>C
n.954T>G
c.1807A>C (p.Arg603=)
c.1711A>C (p.Arg571=)
c.1537A>C (p.Arg513=)
c.1759A>C (p.Arg587=)
4g.186288540A>GCA358946185F11,F11-AS1c.1804A>G (p.Arg602Gly)
c.404A>G
c.1642A>G (p.Arg548Gly)
n.323A>G
n.954T>C
c.1807A>G (p.Arg603Gly)
c.1711A>G (p.Arg571Gly)
c.1537A>G (p.Arg513Gly)
c.1759A>G (p.Arg587Gly)
4g.186288540A>TCA358946187F11,F11-AS1c.1804A>T (p.Arg602Trp)
c.404A>T
c.1642A>T (p.Arg548Trp)
n.323A>T
n.954T>A
c.1807A>T (p.Arg603Trp)
c.1711A>T (p.Arg571Trp)
c.1537A>T (p.Arg513Trp)
c.1759A>T (p.Arg587Trp)
4g.186288541G>ACA358946189F11,F11-AS1c.1805G>A (p.Arg602Lys)
c.405G>A
c.1643G>A (p.Arg548Lys)
n.324G>A
n.953C>T
c.1808G>A (p.Arg603Lys)
c.1712G>A (p.Arg571Lys)
c.1538G>A (p.Arg513Lys)
c.1760G>A (p.Arg587Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288541G>CCA358946193F11,F11-AS1c.1805G>C (p.Arg602Thr)
c.405G>C
c.1643G>C (p.Arg548Thr)
n.324G>C
n.953C>G
c.1808G>C (p.Arg603Thr)
c.1712G>C (p.Arg571Thr)
c.1538G>C (p.Arg513Thr)
c.1760G>C (p.Arg587Thr)
 gnomAD v4
4g.186288541G=CA1519939842F11,F11-AS1c.1805G= (p.Arg602=)
c.405G=
c.1643G= (p.Arg548=)
n.324G=
n.953C=
c.1808G= (p.Arg603=)
c.1712G= (p.Arg571=)
c.1538G= (p.Arg513=)
c.1760G= (p.Arg587=)
4g.186288541G>TCA358946191F11,F11-AS1c.1805G>T (p.Arg602Met)
c.405G>T
c.1643G>T (p.Arg548Met)
n.324G>T
n.953C>A
c.1808G>T (p.Arg603Met)
c.1712G>T (p.Arg571Met)
c.1538G>T (p.Arg513Met)
c.1760G>T (p.Arg587Met)
4g.186288542G>ACA3164127F11,F11-AS1c.1806G>A (p.Arg602=)
c.406G>A
c.1644G>A (p.Arg548=)
n.325G>A
n.952C>T
c.1809G>A (p.Arg603=)
c.1713G>A (p.Arg571=)
c.1539G>A (p.Arg513=)
c.1761G>A (p.Arg587=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288542G>CCA358946196F11,F11-AS1c.1806G>C (p.Arg602Ser)
c.406G>C
c.1644G>C (p.Arg548Ser)
n.325G>C
n.952C>G
c.1809G>C (p.Arg603Ser)
c.1713G>C (p.Arg571Ser)
c.1539G>C (p.Arg513Ser)
c.1761G>C (p.Arg587Ser)
4g.186288542G=CA1519939843F11,F11-AS1c.1806G= (p.Arg602=)
c.406G=
c.1644G= (p.Arg548=)
n.325G=
n.952C=
c.1809G= (p.Arg603=)
c.1713G= (p.Arg571=)
c.1539G= (p.Arg513=)
c.1761G= (p.Arg587=)
4g.186288542G>TCA358946197F11,F11-AS1c.1806G>T (p.Arg602Ser)
c.406G>T
c.1644G>T (p.Arg548Ser)
n.325G>T
n.952C>A
c.1809G>T (p.Arg603Ser)
c.1713G>T (p.Arg571Ser)
c.1539G>T (p.Arg513Ser)
c.1761G>T (p.Arg587Ser)
4g.186288543G>ACA112106270F11,F11-AS1c.1807G>A (p.Glu603Lys)
c.407G>A
c.1645G>A (p.Glu549Lys)
n.326G>A
n.951C>T
c.1810G>A (p.Glu604Lys)
c.1714G>A (p.Glu572Lys)
c.1540G>A (p.Glu514Lys)
c.1762G>A (p.Glu588Lys)
 dbSNP
4g.186288543G>CCA358946200F11,F11-AS1c.1807G>C (p.Glu603Gln)
c.407G>C
c.1645G>C (p.Glu549Gln)
n.326G>C
n.951C>G
c.1810G>C (p.Glu604Gln)
c.1714G>C (p.Glu572Gln)
c.1540G>C (p.Glu514Gln)
c.1762G>C (p.Glu588Gln)
4g.186288543G=CA1519939844F11,F11-AS1c.1807G= (p.Glu603=)
c.407G=
c.1645G= (p.Glu549=)
n.326G=
n.951C=
c.1810G= (p.Glu604=)
c.1714G= (p.Glu572=)
c.1540G= (p.Glu514=)
c.1762G= (p.Glu588=)
4g.186288543G>TCA358946201F11,F11-AS1c.1807G>T (p.Glu603Ter)
c.407G>T
c.1645G>T (p.Glu549Ter)
n.326G>T
n.951C>A
c.1810G>T (p.Glu604Ter)
c.1714G>T (p.Glu572Ter)
c.1540G>T (p.Glu514Ter)
c.1762G>T (p.Glu588Ter)
4g.186288544A>CCA358946202F11,F11-AS1c.1808A>C (p.Glu603Ala)
c.408A>C
c.1646A>C (p.Glu549Ala)
n.327A>C
n.950T>G
c.1811A>C (p.Glu604Ala)
c.1715A>C (p.Glu572Ala)
c.1541A>C (p.Glu514Ala)
c.1763A>C (p.Glu588Ala)
4g.186288544A>GCA358946203F11,F11-AS1c.1808A>G (p.Glu603Gly)
c.408A>G
c.1646A>G (p.Glu549Gly)
n.327A>G
n.950T>C
c.1811A>G (p.Glu604Gly)
c.1715A>G (p.Glu572Gly)
c.1541A>G (p.Glu514Gly)
c.1763A>G (p.Glu588Gly)
4g.186288544A>TCA358946204F11,F11-AS1c.1808A>T (p.Glu603Val)
c.408A>T
c.1646A>T (p.Glu549Val)
n.327A>T
n.950T>A
c.1811A>T (p.Glu604Val)
c.1715A>T (p.Glu572Val)
c.1541A>T (p.Glu514Val)
c.1763A>T (p.Glu588Val)
4g.186288545G>ACA442641390F11,F11-AS1c.1809G>A (p.Glu603=)
c.409G>A
c.1647G>A (p.Glu549=)
n.328G>A
n.949C>T
c.1812G>A (p.Glu604=)
c.1716G>A (p.Glu572=)
c.1542G>A (p.Glu514=)
c.1764G>A (p.Glu588=)
4g.186288545G>CCA358946205F11,F11-AS1c.1809G>C (p.Glu603Asp)
c.409G>C
c.1647G>C (p.Glu549Asp)
n.328G>C
n.949C>G
c.1812G>C (p.Glu604Asp)
c.1716G>C (p.Glu572Asp)
c.1542G>C (p.Glu514Asp)
c.1764G>C (p.Glu588Asp)
4g.186288545G>TCA358946206F11,F11-AS1c.1809G>T (p.Glu603Asp)
c.409G>T
c.1647G>T (p.Glu549Asp)
n.328G>T
n.949C>A
c.1812G>T (p.Glu604Asp)
c.1716G>T (p.Glu572Asp)
c.1542G>T (p.Glu514Asp)
c.1764G>T (p.Glu588Asp)
4g.186288546C>ACA3164128F11,F11-AS1c.1810C>A (p.Arg604=)
c.410C>A
c.1648C>A (p.Arg550=)
n.329C>A
n.948G>T
c.1813C>A (p.Arg605=)
c.1717C>A (p.Arg573=)
c.1543C>A (p.Arg515=)
c.1765C>A (p.Arg589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288546C=CA1519939845F11,F11-AS1c.1810C= (p.Arg604=)
c.410C=
c.1648C= (p.Arg550=)
n.329C=
n.948G=
c.1813C= (p.Arg605=)
c.1717C= (p.Arg573=)
c.1543C= (p.Arg515=)
c.1765C= (p.Arg589=)
4g.186288546C>GCA358946207F11,F11-AS1c.1810C>G (p.Arg604Gly)
c.410C>G
c.1648C>G (p.Arg550Gly)
n.329C>G
n.948G>C
c.1813C>G (p.Arg605Gly)
c.1717C>G (p.Arg573Gly)
c.1543C>G (p.Arg515Gly)
c.1765C>G (p.Arg589Gly)
4g.186288546C>TCA3164129F11,F11-AS1c.1810C>T (p.Arg604Trp)
c.410C>T
c.1648C>T (p.Arg550Trp)
n.329C>T
n.948G>A
c.1813C>T (p.Arg605Trp)
c.1717C>T (p.Arg573Trp)
c.1543C>T (p.Arg515Trp)
c.1765C>T (p.Arg589Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched