UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.47609126_47609141del | CA2679027991 | CD2AP | c.1636_1651del (p.Ser546HisfsTer14) n.161_176del c.1624_1639del (p.Ser542HisfsTer14) c.1489_1504del (p.Ser497HisfsTer14) | gnomAD v4 |
| 6 | g.47609141A= | CA1626461972 | CD2AP | c.1651A= (p.Thr551=) n.176A= c.1639A= (p.Thr547=) c.1504A= (p.Thr502=) | |
| 6 | g.47609141A>C | CA363942352 | CD2AP | c.1651A>C (p.Thr551Pro) n.176A>C c.1639A>C (p.Thr547Pro) c.1504A>C (p.Thr502Pro) | |
| 6 | g.47609141A>G | CA3844426 | CD2AP | c.1651A>G (p.Thr551Ala) n.176A>G c.1639A>G (p.Thr547Ala) c.1504A>G (p.Thr502Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609141A>T | CA363942357 | CD2AP | c.1651A>T (p.Thr551Ser) n.176A>T c.1639A>T (p.Thr547Ser) c.1504A>T (p.Thr502Ser) | |
| 6 | g.47609142C>A | CA363942362 | CD2AP | c.1652C>A (p.Thr551Lys) n.177C>A c.1640C>A (p.Thr547Lys) c.1505C>A (p.Thr502Lys) | |
| 6 | g.47609142C= | CA1626461977 | CD2AP | c.1652C= (p.Thr551=) n.177C= c.1640C= (p.Thr547=) c.1505C= (p.Thr502=) | |
| 6 | g.47609142C>G | CA363942364 | CD2AP | c.1652C>G (p.Thr551Arg) n.177C>G c.1640C>G (p.Thr547Arg) c.1505C>G (p.Thr502Arg) | |
| 6 | g.47609142C>T | CA363942360 | CD2AP | c.1652C>T (p.Thr551Ile) n.177C>T c.1640C>T (p.Thr547Ile) c.1505C>T (p.Thr502Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609143A>C | CA450396884 | CD2AP | c.1653A>C (p.Thr551=) n.178A>C c.1641A>C (p.Thr547=) c.1506A>C (p.Thr502=) | |
| 6 | g.47609143A>G | CA450396881 | CD2AP | c.1653A>G (p.Thr551=) n.178A>G c.1641A>G (p.Thr547=) c.1506A>G (p.Thr502=) | |
| 6 | g.47609143A>T | CA450396883 | CD2AP | c.1653A>T (p.Thr551=) n.178A>T c.1641A>T (p.Thr547=) c.1506A>T (p.Thr502=) | gnomAD v4 |
| 6 | g.47609144C>A | CA363942368 | CD2AP | c.1654C>A (p.Pro552Thr) n.179C>A c.1642C>A (p.Pro548Thr) c.1507C>A (p.Pro503Thr) | |
| 6 | g.47609144C= | CA1626461980 | CD2AP | c.1654C= (p.Pro552=) n.179C= c.1642C= (p.Pro548=) c.1507C= (p.Pro503=) | |
| 6 | g.47609144C>G | CA363942371 | CD2AP | c.1654C>G (p.Pro552Ala) n.179C>G c.1642C>G (p.Pro548Ala) c.1507C>G (p.Pro503Ala) | |
| 6 | g.47609144C>T | CA3844427 | CD2AP | c.1654C>T (p.Pro552Ser) n.179C>T c.1642C>T (p.Pro548Ser) c.1507C>T (p.Pro503Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47609145C>A | CA363942375 | CD2AP | c.1655C>A (p.Pro552His) n.180C>A c.1643C>A (p.Pro548His) c.1508C>A (p.Pro503His) | |
| 6 | g.47609145C= | CA1626461983 | CD2AP | c.1655C= (p.Pro552=) n.180C= c.1643C= (p.Pro548=) c.1508C= (p.Pro503=) | |
| 6 | g.47609145C>G | CA363942378 | CD2AP | c.1655C>G (p.Pro552Arg) n.180C>G c.1643C>G (p.Pro548Arg) c.1508C>G (p.Pro503Arg) | |
| 6 | g.47609145C>T | CA3844428 | CD2AP | c.1655C>T (p.Pro552Leu) n.180C>T c.1643C>T (p.Pro548Leu) c.1508C>T (p.Pro503Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609146T>A | CA450396887 | CD2AP | c.1656T>A (p.Pro552=) n.181T>A c.1644T>A (p.Pro548=) c.1509T>A (p.Pro503=) | |
| 6 | g.47609146T>C | CA450396890 | CD2AP | c.1656T>C (p.Pro552=) n.181T>C c.1644T>C (p.Pro548=) c.1509T>C (p.Pro503=) | |
| 6 | g.47609146T>G | CA450396889 | CD2AP | c.1656T>G (p.Pro552=) n.181T>G c.1644T>G (p.Pro548=) c.1509T>G (p.Pro503=) | |
| 6 | g.47609147T>A | CA363942381 | CD2AP | c.1657T>A (p.Ser553Thr) n.182T>A c.1645T>A (p.Ser549Thr) c.1510T>A (p.Ser504Thr) | |
| 6 | g.47609147T>C | CA363942383 | CD2AP | c.1657T>C (p.Ser553Pro) n.182T>C c.1645T>C (p.Ser549Pro) c.1510T>C (p.Ser504Pro) | |
| 6 | g.47609147T>G | CA363942386 | CD2AP | c.1657T>G (p.Ser553Ala) n.182T>G c.1645T>G (p.Ser549Ala) c.1510T>G (p.Ser504Ala) | |
| 6 | g.47609148C>A | CA363942389 | CD2AP | c.1658C>A (p.Ser553Tyr) n.183C>A c.1646C>A (p.Ser549Tyr) c.1511C>A (p.Ser504Tyr) | |
| 6 | g.47609148C>G | CA363942391 | CD2AP | c.1658C>G (p.Ser553Cys) n.183C>G c.1646C>G (p.Ser549Cys) c.1511C>G (p.Ser504Cys) | |
| 6 | g.47609148C>T | CA363942392 | CD2AP | c.1658C>T (p.Ser553Phe) n.183C>T c.1646C>T (p.Ser549Phe) c.1511C>T (p.Ser504Phe) | |
| 6 | g.47609149C>A | CA3844429 | CD2AP | c.1659C>A (p.Ser553=) n.184C>A c.1647C>A (p.Ser549=) c.1512C>A (p.Ser504=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47609149C= | CA1626461986 | CD2AP | c.1659C= (p.Ser553=) n.184C= c.1647C= (p.Ser549=) c.1512C= (p.Ser504=) | |
| 6 | g.47609149C>G | CA450396894 | CD2AP | c.1659C>G (p.Ser553=) n.184C>G c.1647C>G (p.Ser549=) c.1512C>G (p.Ser504=) | |
| 6 | g.47609149C>T | CA450396895 | CD2AP | c.1659C>T (p.Ser553=) n.184C>T c.1647C>T (p.Ser549=) c.1512C>T (p.Ser504=) | |
| 6 | g.47609150A>C | CA363942395 | CD2AP | c.1660A>C (p.Ser554Arg) n.185A>C c.1648A>C (p.Ser550Arg) c.1513A>C (p.Ser505Arg) | |
| 6 | g.47609150A>G | CA363942394 | CD2AP | c.1660A>G (p.Ser554Gly) n.185A>G c.1648A>G (p.Ser550Gly) c.1513A>G (p.Ser505Gly) | |
| 6 | g.47609150A>T | CA363942393 | CD2AP | c.1660A>T (p.Ser554Cys) n.185A>T c.1648A>T (p.Ser550Cys) c.1513A>T (p.Ser505Cys) | |
| 6 | g.47609151G>A | CA363942396 | CD2AP | c.1661G>A (p.Ser554Asn) n.186G>A c.1649G>A (p.Ser550Asn) c.1514G>A (p.Ser505Asn) | |
| 6 | g.47609151G>C | CA363942397 | CD2AP | c.1661G>C (p.Ser554Thr) n.186G>C c.1649G>C (p.Ser550Thr) c.1514G>C (p.Ser505Thr) | |
| 6 | g.47609151G= | CA1626461990 | CD2AP | c.1661G= (p.Ser554=) n.186G= c.1649G= (p.Ser550=) c.1514G= (p.Ser505=) | |
| 6 | g.47609151G>T | CA3844430 | CD2AP | c.1661G>T (p.Ser554Ile) n.186G>T c.1649G>T (p.Ser550Ile) c.1514G>T (p.Ser505Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47609152T>A | CA363942398 | CD2AP | c.1662T>A (p.Ser554Arg) n.187T>A c.1650T>A (p.Ser550Arg) c.1515T>A (p.Ser505Arg) | |
| 6 | g.47609152T>C | CA450396905 | CD2AP | c.1662T>C (p.Ser554=) n.187T>C c.1650T>C (p.Ser550=) c.1515T>C (p.Ser505=) | |
| 6 | g.47609152T>G | CA363942399 | CD2AP | c.1662T>G (p.Ser554Arg) n.187T>G c.1650T>G (p.Ser550Arg) c.1515T>G (p.Ser505Arg) | |
| 6 | g.47609153G>A | CA363942400 | CD2AP | c.1663G>A (p.Ala555Thr) n.188G>A c.1651G>A (p.Ala551Thr) c.1516G>A (p.Ala506Thr) | |
| 6 | g.47609153G>C | CA363942401 | CD2AP | c.1663G>C (p.Ala555Pro) n.188G>C c.1651G>C (p.Ala551Pro) c.1516G>C (p.Ala506Pro) | |
| 6 | g.47609153G>T | CA363942402 | CD2AP | c.1663G>T (p.Ala555Ser) n.188G>T c.1651G>T (p.Ala551Ser) c.1516G>T (p.Ala506Ser) | gnomAD v4 |
| 6 | g.47609154C>A | CA363942403 | CD2AP | c.1664C>A (p.Ala555Asp) n.189C>A c.1652C>A (p.Ala551Asp) c.1517C>A (p.Ala506Asp) | |
| 6 | g.47609154C>G | CA363942404 | CD2AP | c.1664C>G (p.Ala555Gly) n.189C>G c.1652C>G (p.Ala551Gly) c.1517C>G (p.Ala506Gly) | |
| 6 | g.47609154C>T | CA363942405 | CD2AP | c.1664C>T (p.Ala555Val) n.189C>T c.1652C>T (p.Ala551Val) c.1517C>T (p.Ala506Val) | |
| 6 | g.47609155T>A | CA450396912 | CD2AP | c.1665T>A (p.Ala555=) n.190T>A c.1653T>A (p.Ala551=) c.1518T>A (p.Ala506=) | |
| 6 | g.47609155T>C | CA450396913 | CD2AP | c.1665T>C (p.Ala555=) n.190T>C c.1653T>C (p.Ala551=) c.1518T>C (p.Ala506=) | |
| 6 | g.47609155T>G | CA450396915 | CD2AP | c.1665T>G (p.Ala555=) n.190T>G c.1653T>G (p.Ala551=) c.1518T>G (p.Ala506=) | |
| 6 | g.47609156T>A | CA363942406 | CD2AP | c.1666T>A (p.Ser556Thr) n.191T>A c.1654T>A (p.Ser552Thr) c.1519T>A (p.Ser507Thr) | |
| 6 | g.47609156T>C | CA363942407 | CD2AP | c.1666T>C (p.Ser556Pro) n.191T>C c.1654T>C (p.Ser552Pro) c.1519T>C (p.Ser507Pro) | |
| 6 | g.47609156T>G | CA363942408 | CD2AP | c.1666T>G (p.Ser556Ala) n.191T>G c.1654T>G (p.Ser552Ala) c.1519T>G (p.Ser507Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609156T= | CA1626461994 | CD2AP | c.1666T= (p.Ser556=) n.191T= c.1654T= (p.Ser552=) c.1519T= (p.Ser507=) | |
| 6 | g.47609157C>A | CA363942410 | CD2AP | c.1667C>A (p.Ser556Tyr) n.192C>A c.1655C>A (p.Ser552Tyr) c.1520C>A (p.Ser507Tyr) | |
| 6 | g.47609157C= | CA1626462000 | CD2AP | c.1667C= (p.Ser556=) n.192C= c.1655C= (p.Ser552=) c.1520C= (p.Ser507=) | |
| 6 | g.47609157C>G | CA363942411 | CD2AP | c.1667C>G (p.Ser556Cys) n.192C>G c.1655C>G (p.Ser552Cys) c.1520C>G (p.Ser507Cys) | |
| 6 | g.47609157C>T | CA363942409 | CD2AP | c.1667C>T (p.Ser556Phe) n.192C>T c.1655C>T (p.Ser552Phe) c.1520C>T (p.Ser507Phe) | dbSNP gnomAD v4 |
| 6 | g.47609158T>A | CA450396926 | CD2AP | c.1668T>A (p.Ser556=) n.193T>A c.1656T>A (p.Ser552=) c.1521T>A (p.Ser507=) | |
| 6 | g.47609158T>C | CA450396928 | CD2AP | c.1668T>C (p.Ser556=) n.193T>C c.1656T>C (p.Ser552=) c.1521T>C (p.Ser507=) | |
| 6 | g.47609158T>G | CA450396930 | CD2AP | c.1668T>G (p.Ser556=) n.193T>G c.1656T>G (p.Ser552=) c.1521T>G (p.Ser507=) | |
| 6 | g.47609159A= | CA1626462002 | CD2AP | c.1669A= (p.Lys557=) n.194A= c.1657A= (p.Lys553=) c.1522A= (p.Lys508=) | |
| 6 | g.47609159A>C | CA363942412 | CD2AP | c.1669A>C (p.Lys557Gln) n.194A>C c.1657A>C (p.Lys553Gln) c.1522A>C (p.Lys508Gln) | |
| 6 | g.47609159A>G | CA363942413 | CD2AP | c.1669A>G (p.Lys557Glu) n.194A>G c.1657A>G (p.Lys553Glu) c.1522A>G (p.Lys508Glu) | dbSNP |
| 6 | g.47609159A>T | CA363942414 | CD2AP | c.1669A>T (p.Lys557Ter) n.194A>T c.1657A>T (p.Lys553Ter) c.1522A>T (p.Lys508Ter) | |
| 6 | g.47609160A>C | CA363942415 | CD2AP | c.1670A>C (p.Lys557Thr) n.195A>C c.1658A>C (p.Lys553Thr) c.1523A>C (p.Lys508Thr) | |
| 6 | g.47609160A>G | CA363942416 | CD2AP | c.1670A>G (p.Lys557Arg) n.195A>G c.1658A>G (p.Lys553Arg) c.1523A>G (p.Lys508Arg) | |
| 6 | g.47609160A>T | CA363942417 | CD2AP | c.1670A>T (p.Lys557Ile) n.195A>T c.1658A>T (p.Lys553Ile) c.1523A>T (p.Lys508Ile) | |
| 6 | g.47609161A>C | CA363942418 | CD2AP | c.1671A>C (p.Lys557Asn) n.196A>C c.1659A>C (p.Lys553Asn) c.1524A>C (p.Lys508Asn) | |
| 6 | g.47609161A>G | CA450396934 | CD2AP | c.1671A>G (p.Lys557=) n.196A>G c.1659A>G (p.Lys553=) c.1524A>G (p.Lys508=) | |
| 6 | g.47609161A>T | CA363942419 | CD2AP | c.1671A>T (p.Lys557Asn) n.196A>T c.1659A>T (p.Lys553Asn) c.1524A>T (p.Lys508Asn) | |
| 6 | g.47609162G>A | CA363942420 | CD2AP | c.1672G>A (p.Ala558Thr) n.197G>A c.1660G>A (p.Ala554Thr) c.1525G>A (p.Ala509Thr) | |
| 6 | g.47609162G>C | CA363942421 | CD2AP | c.1672G>C (p.Ala558Pro) n.197G>C c.1660G>C (p.Ala554Pro) c.1525G>C (p.Ala509Pro) | |
| 6 | g.47609162G>T | CA363942422 | CD2AP | c.1672G>T (p.Ala558Ser) n.197G>T c.1660G>T (p.Ala554Ser) c.1525G>T (p.Ala509Ser) | |
| 6 | g.47609163C>A | CA363942424 | CD2AP | c.1673C>A (p.Ala558Glu) n.198C>A c.1661C>A (p.Ala554Glu) c.1526C>A (p.Ala509Glu) | |
| 6 | g.47609163C= | CA1626462008 | CD2AP | c.1673C= (p.Ala558=) n.198C= c.1661C= (p.Ala554=) c.1526C= (p.Ala509=) | |
| 6 | g.47609163C>G | CA363942423 | CD2AP | c.1673C>G (p.Ala558Gly) n.198C>G c.1661C>G (p.Ala554Gly) c.1526C>G (p.Ala509Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609163C>T | CA3844431 | CD2AP | c.1673C>T (p.Ala558Val) n.198C>T c.1661C>T (p.Ala554Val) c.1526C>T (p.Ala509Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609164A>C | CA450396937 | CD2AP | c.1674A>C (p.Ala558=) n.199A>C c.1662A>C (p.Ala554=) c.1527A>C (p.Ala509=) | |
| 6 | g.47609164A>G | CA450396938 | CD2AP | c.1674A>G (p.Ala558=) n.199A>G c.1662A>G (p.Ala554=) c.1527A>G (p.Ala509=) | |
| 6 | g.47609164A>T | CA450396939 | CD2AP | c.1674A>T (p.Ala558=) n.199A>T c.1662A>T (p.Ala554=) c.1527A>T (p.Ala509=) | |
| 6 | g.47609165A= | CA1626462015 | CD2AP | c.1675A= (p.Asn559=) n.200A= c.1663A= (p.Asn555=) c.1528A= (p.Asn510=) | |
| 6 | g.47609165A>C | CA363942425 | CD2AP | c.1675A>C (p.Asn559His) n.200A>C c.1663A>C (p.Asn555His) c.1528A>C (p.Asn510His) | |
| 6 | g.47609165A>G | CA137928358 | CD2AP | c.1675A>G (p.Asn559Asp) n.200A>G c.1663A>G (p.Asn555Asp) c.1528A>G (p.Asn510Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609165A>T | CA363942426 | CD2AP | c.1675A>T (p.Asn559Tyr) n.200A>T c.1663A>T (p.Asn555Tyr) c.1528A>T (p.Asn510Tyr) | |
| 6 | g.47609166A= | CA1626462018 | CD2AP | c.1676A= (p.Asn559=) n.201A= c.1664A= (p.Asn555=) c.1529A= (p.Asn510=) | |
| 6 | g.47609166A>C | CA363942427 | CD2AP | c.1676A>C (p.Asn559Thr) n.201A>C c.1664A>C (p.Asn555Thr) c.1529A>C (p.Asn510Thr) | gnomAD v4 |
| 6 | g.47609166A>G | CA363942428 | CD2AP | c.1676A>G (p.Asn559Ser) n.201A>G c.1664A>G (p.Asn555Ser) c.1529A>G (p.Asn510Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609166A>T | CA363942429 | CD2AP | c.1676A>T (p.Asn559Ile) n.201A>T c.1664A>T (p.Asn555Ile) c.1529A>T (p.Asn510Ile) | |
| 6 | g.47609167T>A | CA363942430 | CD2AP | c.1677T>A (p.Asn559Lys) n.202T>A c.1665T>A (p.Asn555Lys) c.1530T>A (p.Asn510Lys) | |
| 6 | g.47609167T>C | CA3844432 | CD2AP | c.1677T>C (p.Asn559=) n.202T>C c.1665T>C (p.Asn555=) c.1530T>C (p.Asn510=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609167T>G | CA363942431 | CD2AP | c.1677T>G (p.Asn559Lys) n.202T>G c.1665T>G (p.Asn555Lys) c.1530T>G (p.Asn510Lys) | |
| 6 | g.47609167T= | CA1626462022 | CD2AP | c.1677T= (p.Asn559=) n.202T= c.1665T= (p.Asn555=) c.1530T= (p.Asn510=) | |
| 6 | g.47609168A= | CA1626462027 | CD2AP | c.1678A= (p.Thr560=) n.203A= c.1666A= (p.Thr556=) c.1531A= (p.Thr511=) | |
| 6 | g.47609168A>C | CA363942432 | CD2AP | c.1678A>C (p.Thr560Pro) n.203A>C c.1666A>C (p.Thr556Pro) c.1531A>C (p.Thr511Pro) | |
| 6 | g.47609168A>G | CA3844433 | CD2AP | c.1678A>G (p.Thr560Ala) n.203A>G c.1666A>G (p.Thr556Ala) c.1531A>G (p.Thr511Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609168A>T | CA363942433 | CD2AP | c.1678A>T (p.Thr560Ser) n.203A>T c.1666A>T (p.Thr556Ser) c.1531A>T (p.Thr511Ser) | |
| 6 | g.47609169C>A | CA363942434 | CD2AP | c.1679C>A (p.Thr560Lys) n.204C>A c.1667C>A (p.Thr556Lys) c.1532C>A (p.Thr511Lys) | |
| 6 | g.47609169C= | CA1626462031 | CD2AP | c.1679C= (p.Thr560=) n.204C= c.1667C= (p.Thr556=) c.1532C= (p.Thr511=) | |
| 6 | g.47609169C>G | CA363942436 | CD2AP | c.1679C>G (p.Thr560Arg) n.204C>G c.1667C>G (p.Thr556Arg) c.1532C>G (p.Thr511Arg) | |
| 6 | g.47609169C>T | CA363942435 | CD2AP | c.1679C>T (p.Thr560Ile) n.204C>T c.1667C>T (p.Thr556Ile) c.1532C>T (p.Thr511Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609170A>C | CA450396942 | CD2AP | c.1680A>C (p.Thr560=) n.205A>C c.1668A>C (p.Thr556=) c.1533A>C (p.Thr511=) | |
| 6 | g.47609170A>G | CA450396944 | CD2AP | c.1680A>G (p.Thr560=) n.205A>G c.1668A>G (p.Thr556=) c.1533A>G (p.Thr511=) | |
| 6 | g.47609170A>T | CA450396945 | CD2AP | c.1680A>T (p.Thr560=) n.205A>T c.1668A>T (p.Thr556=) c.1533A>T (p.Thr511=) | gnomAD v4 |
| 6 | g.47609171A= | CA1626462034 | CD2AP | c.1681A= (p.Thr561=) n.206A= c.1669A= (p.Thr557=) c.1534A= (p.Thr512=) | |
| 6 | g.47609171A>C | CA363942437 | CD2AP | c.1681A>C (p.Thr561Pro) n.206A>C c.1669A>C (p.Thr557Pro) c.1534A>C (p.Thr512Pro) | |
| 6 | g.47609171A>G | CA3844434 | CD2AP | c.1681A>G (p.Thr561Ala) n.206A>G c.1669A>G (p.Thr557Ala) c.1534A>G (p.Thr512Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609171A>T | CA363942438 | CD2AP | c.1681A>T (p.Thr561Ser) n.206A>T c.1669A>T (p.Thr557Ser) c.1534A>T (p.Thr512Ser) | |
| 6 | g.47609172C>A | CA363942439 | CD2AP | c.1682C>A (p.Thr561Asn) n.207C>A c.1670C>A (p.Thr557Asn) c.1535C>A (p.Thr512Asn) | |
| 6 | g.47609172C>G | CA363942441 | CD2AP | c.1682C>G (p.Thr561Ser) n.207C>G c.1670C>G (p.Thr557Ser) c.1535C>G (p.Thr512Ser) | |
| 6 | g.47609172C>T | CA363942440 | CD2AP | c.1682C>T (p.Thr561Ile) n.207C>T c.1670C>T (p.Thr557Ile) c.1535C>T (p.Thr512Ile) | |
| 6 | g.47609173T>A | CA450396946 | CD2AP | c.1683T>A (p.Thr561=) n.208T>A c.1671T>A (p.Thr557=) c.1536T>A (p.Thr512=) | |
| 6 | g.47609173T>C | CA450396947 | CD2AP | c.1683T>C (p.Thr561=) n.208T>C c.1671T>C (p.Thr557=) c.1536T>C (p.Thr512=) | |
| 6 | g.47609173T>G | CA450396948 | CD2AP | c.1683T>G (p.Thr561=) n.208T>G c.1671T>G (p.Thr557=) c.1536T>G (p.Thr512=) | |
| 6 | g.47609174G>A | CA363942442 | CD2AP | c.1684G>A (p.Ala562Thr) n.209G>A c.1672G>A (p.Ala558Thr) c.1537G>A (p.Ala513Thr) | |
| 6 | g.47609174G>C | CA363942443 | CD2AP | c.1684G>C (p.Ala562Pro) n.209G>C c.1672G>C (p.Ala558Pro) c.1537G>C (p.Ala513Pro) | gnomAD v4 |
| 6 | g.47609174G>T | CA363942444 | CD2AP | c.1684G>T (p.Ala562Ser) n.209G>T c.1672G>T (p.Ala558Ser) c.1537G>T (p.Ala513Ser) | |
| 6 | g.47609175C>A | CA363942445 | CD2AP | c.1685C>A (p.Ala562Asp) n.210C>A c.1673C>A (p.Ala558Asp) c.1538C>A (p.Ala513Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609175C= | CA1626462037 | CD2AP | c.1685C= (p.Ala562=) n.210C= c.1673C= (p.Ala558=) c.1538C= (p.Ala513=) | |
| 6 | g.47609175C>G | CA363942446 | CD2AP | c.1685C>G (p.Ala562Gly) n.210C>G c.1673C>G (p.Ala558Gly) c.1538C>G (p.Ala513Gly) | |
| 6 | g.47609175C>T | CA363942447 | CD2AP | c.1685C>T (p.Ala562Val) n.210C>T c.1673C>T (p.Ala558Val) c.1538C>T (p.Ala513Val) | |
| 6 | g.47609176T>A | CA450396950 | CD2AP | c.1686T>A (p.Ala562=) n.211T>A c.1674T>A (p.Ala558=) c.1539T>A (p.Ala513=) | |
| 6 | g.47609176T>C | CA450396951 | CD2AP | c.1686T>C (p.Ala562=) n.211T>C c.1674T>C (p.Ala558=) c.1539T>C (p.Ala513=) | |
| 6 | g.47609176T>G | CA450396952 | CD2AP | c.1686T>G (p.Ala562=) n.211T>G c.1674T>G (p.Ala558=) c.1539T>G (p.Ala513=) | |
| 6 | g.47609177T>A | CA363942448 | CD2AP | c.1687T>A (p.Phe563Ile) n.212T>A c.1675T>A (p.Phe559Ile) c.1540T>A (p.Phe514Ile) | |
| 6 | g.47609177T>C | CA363942449 | CD2AP | c.1687T>C (p.Phe563Leu) n.212T>C c.1675T>C (p.Phe559Leu) c.1540T>C (p.Phe514Leu) | |
| 6 | g.47609177T>G | CA363942450 | CD2AP | c.1687T>G (p.Phe563Val) n.212T>G c.1675T>G (p.Phe559Val) c.1540T>G (p.Phe514Val) | |
| 6 | g.47609178T>A | CA363942451 | CD2AP | c.1688T>A (p.Phe563Tyr) n.213T>A c.1676T>A (p.Phe559Tyr) c.1541T>A (p.Phe514Tyr) | |
| 6 | g.47609178T>C | CA363942452 | CD2AP | c.1688T>C (p.Phe563Ser) n.213T>C c.1676T>C (p.Phe559Ser) c.1541T>C (p.Phe514Ser) | |
| 6 | g.47609178T>G | CA363942453 | CD2AP | c.1688T>G (p.Phe563Cys) n.213T>G c.1676T>G (p.Phe559Cys) c.1541T>G (p.Phe514Cys) | |
| 6 | g.47609179C>A | CA363942454 | CD2AP | c.1689C>A (p.Phe563Leu) n.214C>A c.1677C>A (p.Phe559Leu) c.1542C>A (p.Phe514Leu) | |
| 6 | g.47609179C>G | CA363942455 | CD2AP | c.1689C>G (p.Phe563Leu) n.214C>G c.1677C>G (p.Phe559Leu) c.1542C>G (p.Phe514Leu) | |
| 6 | g.47609179C>T | CA450396955 | CD2AP | c.1689C>T (p.Phe563=) n.214C>T c.1677C>T (p.Phe559=) c.1542C>T (p.Phe514=) | |
| 6 | g.47609180C>A | CA363942456 | CD2AP | c.1690C>A (p.Leu564Met) n.215C>A c.1678C>A (p.Leu560Met) c.1543C>A (p.Leu515Met) | |
| 6 | g.47609180C= | CA1626462042 | CD2AP | c.1690C= (p.Leu564=) n.215C= c.1678C= (p.Leu560=) c.1543C= (p.Leu515=) | |
| 6 | g.47609180C>G | CA363942457 | CD2AP | c.1690C>G (p.Leu564Val) n.215C>G c.1678C>G (p.Leu560Val) c.1543C>G (p.Leu515Val) | |
| 6 | g.47609180C>T | CA450396957 | CD2AP | c.1690C>T (p.Leu564=) n.215C>T c.1678C>T (p.Leu560=) c.1543C>T (p.Leu515=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609181T>A | CA363942458 | CD2AP | c.1691T>A (p.Leu564Gln) n.216T>A c.1679T>A (p.Leu560Gln) c.1544T>A (p.Leu515Gln) | |
| 6 | g.47609181T>C | CA363942459 | CD2AP | c.1691T>C (p.Leu564Pro) n.216T>C c.1679T>C (p.Leu560Pro) c.1544T>C (p.Leu515Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609181T>G | CA363942460 | CD2AP | c.1691T>G (p.Leu564Arg) n.216T>G c.1679T>G (p.Leu560Arg) c.1544T>G (p.Leu515Arg) | gnomAD v4 |
| 6 | g.47609181T= | CA1626462044 | CD2AP | c.1691T= (p.Leu564=) n.216T= c.1679T= (p.Leu560=) c.1544T= (p.Leu515=) | |
| 6 | g.47609182G>A | CA450396959 | CD2AP | c.1692G>A (p.Leu564=) n.217G>A c.1680G>A (p.Leu560=) c.1545G>A (p.Leu515=) | |
| 6 | g.47609182G>C | CA450396960 | CD2AP | c.1692G>C (p.Leu564=) n.217G>C c.1680G>C (p.Leu560=) c.1545G>C (p.Leu515=) | dbSNP |
| 6 | g.47609182G= | CA1626462049 | CD2AP | c.1692G= (p.Leu564=) n.217G= c.1680G= (p.Leu560=) c.1545G= (p.Leu515=) | |
| 6 | g.47609182G>T | CA450396958 | CD2AP | c.1692G>T (p.Leu564=) n.217G>T c.1680G>T (p.Leu560=) c.1545G>T (p.Leu515=) | |
| 6 | g.47609183A= | CA1626462051 | CD2AP | c.1693A= (p.Thr565=) n.218A= c.1681A= (p.Thr561=) c.1546A= (p.Thr516=) | |
| 6 | g.47609183A>C | CA363942461 | CD2AP | c.1693A>C (p.Thr565Pro) n.218A>C c.1681A>C (p.Thr561Pro) c.1546A>C (p.Thr516Pro) | |
| 6 | g.47609183A>G | CA363942462 | CD2AP | c.1693A>G (p.Thr565Ala) n.218A>G c.1681A>G (p.Thr561Ala) c.1546A>G (p.Thr516Ala) | dbSNP |
| 6 | g.47609183A>T | CA363942463 | CD2AP | c.1693A>T (p.Thr565Ser) n.218A>T c.1681A>T (p.Thr561Ser) c.1546A>T (p.Thr516Ser) | |
| 6 | g.47609184C>A | CA363942464 | CD2AP | c.1694C>A (p.Thr565Asn) n.219C>A c.1682C>A (p.Thr561Asn) c.1547C>A (p.Thr516Asn) | |
| 6 | g.47609184C>G | CA363942465 | CD2AP | c.1694C>G (p.Thr565Ser) n.219C>G c.1682C>G (p.Thr561Ser) c.1547C>G (p.Thr516Ser) | gnomAD v4 |
| 6 | g.47609184C>T | CA363942466 | CD2AP | c.1694C>T (p.Thr565Ile) n.219C>T c.1682C>T (p.Thr561Ile) c.1547C>T (p.Thr516Ile) | |
| 6 | g.47609185T>A | CA450396964 | CD2AP | c.1695T>A (p.Thr565=) n.220T>A c.1683T>A (p.Thr561=) c.1548T>A (p.Thr516=) | gnomAD v4 |
| 6 | g.47609185T>C | CA450396962 | CD2AP | c.1695T>C (p.Thr565=) n.220T>C c.1683T>C (p.Thr561=) c.1548T>C (p.Thr516=) | |
| 6 | g.47609185T>G | CA450396963 | CD2AP | c.1695T>G (p.Thr565=) n.220T>G c.1683T>G (p.Thr561=) c.1548T>G (p.Thr516=) | |
| 6 | g.47609186C>A | CA363942467 | CD2AP | c.1696C>A (p.Pro566Thr) n.221C>A c.1684C>A (p.Pro562Thr) c.1549C>A (p.Pro517Thr) | |
| 6 | g.47609186C= | CA1626462055 | CD2AP | c.1696C= (p.Pro566=) n.221C= c.1684C= (p.Pro562=) c.1549C= (p.Pro517=) | |
| 6 | g.47609186C>G | CA363942468 | CD2AP | c.1696C>G (p.Pro566Ala) n.221C>G c.1684C>G (p.Pro562Ala) c.1549C>G (p.Pro517Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609186C>T | CA3844435 | CD2AP | c.1696C>T (p.Pro566Ser) n.221C>T c.1684C>T (p.Pro562Ser) c.1549C>T (p.Pro517Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.47609187C>A | CA363942470 | CD2AP | c.1697C>A (p.Pro566Gln) n.222C>A c.1685C>A (p.Pro562Gln) c.1550C>A (p.Pro517Gln) | |
| 6 | g.47609187C>G | CA363942474 | CD2AP | c.1697C>G (p.Pro566Arg) n.222C>G c.1685C>G (p.Pro562Arg) c.1550C>G (p.Pro517Arg) | |
| 6 | g.47609187C>T | CA363942472 | CD2AP | c.1697C>T (p.Pro566Leu) n.222C>T c.1685C>T (p.Pro562Leu) c.1550C>T (p.Pro517Leu) | |
| 6 | g.47609188A>C | CA450396966 | CD2AP | c.1698A>C (p.Pro566=) n.223A>C c.1686A>C (p.Pro562=) c.1551A>C (p.Pro517=) | |
| 6 | g.47609188A>G | CA450396968 | CD2AP | c.1698A>G (p.Pro566=) n.223A>G c.1686A>G (p.Pro562=) c.1551A>G (p.Pro517=) | |
| 6 | g.47609188A>T | CA450396967 | CD2AP | c.1698A>T (p.Pro566=) n.223A>T c.1686A>T (p.Pro562=) c.1551A>T (p.Pro517=) | |
| 6 | g.47609189T>A | CA363942476 | CD2AP | c.1699T>A (p.Leu567Ile) n.224T>A c.1687T>A (p.Leu563Ile) c.1552T>A (p.Leu518Ile) | |
| 6 | g.47609189T>C | CA450396972 | CD2AP | c.1699T>C (p.Leu567=) n.224T>C c.1687T>C (p.Leu563=) c.1552T>C (p.Leu518=) | |
| 6 | g.47609189T>G | CA363942478 | CD2AP | c.1699T>G (p.Leu567Val) n.224T>G c.1687T>G (p.Leu563Val) c.1552T>G (p.Leu518Val) | gnomAD v4 |
| 6 | g.47609190T>A | CA363942479 | CD2AP | c.1700T>A (p.Leu567Ter) n.225T>A c.1688T>A (p.Leu563Ter) c.1553T>A (p.Leu518Ter) | |
| 6 | g.47609190T>C | CA363942480 | CD2AP | c.1700T>C (p.Leu567Ser) n.225T>C c.1688T>C (p.Leu563Ser) c.1553T>C (p.Leu518Ser) | gnomAD v4 |
| 6 | g.47609190T>G | CA363942481 | CD2AP | c.1700T>G (p.Leu567Ter) n.225T>G c.1688T>G (p.Leu563Ter) c.1553T>G (p.Leu518Ter) | |
| 6 | g.47609191A= | CA1626462060 | CD2AP | c.1701A= (p.Leu567=) n.226A= c.1689A= (p.Leu563=) c.1554A= (p.Leu518=) | |
| 6 | g.47609191A>C | CA363942482 | CD2AP | c.1701A>C (p.Leu567Phe) n.226A>C c.1689A>C (p.Leu563Phe) c.1554A>C (p.Leu518Phe) | |
| 6 | g.47609191A>G | CA450396975 | CD2AP | c.1701A>G (p.Leu567=) n.226A>G c.1689A>G (p.Leu563=) c.1554A>G (p.Leu518=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609191A>T | CA363942483 | CD2AP | c.1701A>T (p.Leu567Phe) n.226A>T c.1689A>T (p.Leu563Phe) c.1554A>T (p.Leu518Phe) | |
| 6 | g.47609192G>A | CA363942484 | CD2AP | c.1702G>A (p.Glu568Lys) n.227G>A c.1690G>A (p.Glu564Lys) c.1555G>A (p.Glu519Lys) | |
| 6 | g.47609192G>C | CA363942485 | CD2AP | c.1702G>C (p.Glu568Gln) n.227G>C c.1690G>C (p.Glu564Gln) c.1555G>C (p.Glu519Gln) | gnomAD v4 |
| 6 | g.47609192G>T | CA363942486 | CD2AP | c.1702G>T (p.Glu568Ter) n.227G>T c.1690G>T (p.Glu564Ter) c.1555G>T (p.Glu519Ter) | |
| 6 | g.47609193A>C | CA363942487 | CD2AP | c.1703A>C (p.Glu568Ala) n.228A>C c.1691A>C (p.Glu564Ala) c.1556A>C (p.Glu519Ala) | |
| 6 | g.47609193A>G | CA363942488 | CD2AP | c.1703A>G (p.Glu568Gly) n.228A>G c.1691A>G (p.Glu564Gly) c.1556A>G (p.Glu519Gly) | gnomAD v4 |
| 6 | g.47609193A>T | CA363942489 | CD2AP | c.1703A>T (p.Glu568Val) n.228A>T c.1691A>T (p.Glu564Val) c.1556A>T (p.Glu519Val) | |
| 6 | g.47609194A= | CA1626462064 | CD2AP | c.1704A= (p.Glu568=) n.229A= c.1692A= (p.Glu564=) c.1557A= (p.Glu519=) | |
| 6 | g.47609194A>C | CA363942490 | CD2AP | c.1704A>C (p.Glu568Asp) n.229A>C c.1692A>C (p.Glu564Asp) c.1557A>C (p.Glu519Asp) | |
| 6 | g.47609194A>G | CA450396978 | CD2AP | c.1704A>G (p.Glu568=) n.229A>G c.1692A>G (p.Glu564=) c.1557A>G (p.Glu519=) | |
| 6 | g.47609194A>T | CA3844436 | CD2AP | c.1704A>T (p.Glu568Asp) n.229A>T c.1692A>T (p.Glu564Asp) c.1557A>T (p.Glu519Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609195A>C | CA363942491 | CD2AP | c.1705A>C (p.Ile569Leu) n.230A>C c.1693A>C (p.Ile565Leu) c.1558A>C (p.Ile520Leu) | |
| 6 | g.47609195A>G | CA363942492 | CD2AP | c.1705A>G (p.Ile569Val) n.230A>G c.1693A>G (p.Ile565Val) c.1558A>G (p.Ile520Val) | |
| 6 | g.47609195A>T | CA363942493 | CD2AP | c.1705A>T (p.Ile569Phe) n.230A>T c.1693A>T (p.Ile565Phe) c.1558A>T (p.Ile520Phe) | |
| 6 | g.47609196T>A | CA363942494 | CD2AP | c.1706T>A (p.Ile569Asn) n.231T>A c.1694T>A (p.Ile565Asn) c.1559T>A (p.Ile520Asn) | |
| 6 | g.47609196T>C | CA363942495 | CD2AP | c.1706T>C (p.Ile569Thr) n.231T>C c.1694T>C (p.Ile565Thr) c.1559T>C (p.Ile520Thr) | |
| 6 | g.47609196T>G | CA363942496 | CD2AP | c.1706T>G (p.Ile569Ser) n.231T>G c.1694T>G (p.Ile565Ser) c.1559T>G (p.Ile520Ser) | |
| 6 | g.47609197C>A | CA450396980 | CD2AP | c.1707C>A (p.Ile569=) n.232C>A c.1695C>A (p.Ile565=) c.1560C>A (p.Ile520=) | |
| 6 | g.47609197C= | CA1626462067 | CD2AP | c.1707C= (p.Ile569=) n.232C= c.1695C= (p.Ile565=) c.1560C= (p.Ile520=) | |
| 6 | g.47609197C>G | CA3844437 | CD2AP | c.1707C>G (p.Ile569Met) n.232C>G c.1695C>G (p.Ile565Met) c.1560C>G (p.Ile520Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47609197C>T | CA450396981 | CD2AP | c.1707C>T (p.Ile569=) n.232C>T c.1695C>T (p.Ile565=) c.1560C>T (p.Ile520=) | COSMIC |
| 6 | g.47609198A= | CA1626462069 | CD2AP | c.1708A= (p.Lys570=) n.233A= c.1696A= (p.Lys566=) c.1561A= (p.Lys521=) | |
| 6 | g.47609198A>C | CA363942497 | CD2AP | c.1708A>C (p.Lys570Gln) n.233A>C c.1696A>C (p.Lys566Gln) c.1561A>C (p.Lys521Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609198A>G | CA363942498 | CD2AP | c.1708A>G (p.Lys570Glu) n.233A>G c.1696A>G (p.Lys566Glu) c.1561A>G (p.Lys521Glu) | |
| 6 | g.47609198A>T | CA363942499 | CD2AP | c.1708A>T (p.Lys570Ter) n.233A>T c.1696A>T (p.Lys566Ter) c.1561A>T (p.Lys521Ter) | |
| 6 | g.47609199A>C | CA363942502 | CD2AP | c.1709A>C (p.Lys570Thr) n.234A>C c.1697A>C (p.Lys566Thr) c.1562A>C (p.Lys521Thr) | |
| 6 | g.47609199A>G | CA363942501 | CD2AP | c.1709A>G (p.Lys570Arg) n.234A>G c.1697A>G (p.Lys566Arg) c.1562A>G (p.Lys521Arg) | |
| 6 | g.47609199A>T | CA363942500 | CD2AP | c.1709A>T (p.Lys570Ile) n.234A>T c.1697A>T (p.Lys566Ile) c.1562A>T (p.Lys521Ile) | |
| 6 | g.47609200A>C | CA363942503 | CD2AP | c.1710A>C (p.Lys570Asn) n.235A>C c.1698A>C (p.Lys566Asn) c.1563A>C (p.Lys521Asn) | |
| 6 | g.47609200A>G | CA450396983 | CD2AP | c.1710A>G (p.Lys570=) n.235A>G c.1698A>G (p.Lys566=) c.1563A>G (p.Lys521=) | |
| 6 | g.47609200A>T | CA363942504 | CD2AP | c.1710A>T (p.Lys570Asn) n.235A>T c.1698A>T (p.Lys566Asn) c.1563A>T (p.Lys521Asn) | |
| 6 | g.47609201G>A | CA3844438 | CD2AP | c.1711G>A (p.Ala571Thr) n.236G>A c.1699G>A (p.Ala567Thr) c.1564G>A (p.Ala522Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609201G>C | CA137928416 | CD2AP | c.1711G>C (p.Ala571Pro) n.236G>C c.1699G>C (p.Ala567Pro) c.1564G>C (p.Ala522Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609201G= | CA1626462076 | CD2AP | c.1711G= (p.Ala571=) n.236G= c.1699G= (p.Ala567=) c.1564G= (p.Ala522=) | |
| 6 | g.47609201G>T | CA363942505 | CD2AP | c.1711G>T (p.Ala571Ser) n.236G>T c.1699G>T (p.Ala567Ser) c.1564G>T (p.Ala522Ser) | |
| 6 | g.47609202C>A | CA363942506 | CD2AP | c.1712C>A (p.Ala571Asp) n.237C>A c.1700C>A (p.Ala567Asp) c.1565C>A (p.Ala522Asp) | |
| 6 | g.47609202C>G | CA363942507 | CD2AP | c.1712C>G (p.Ala571Gly) n.237C>G c.1700C>G (p.Ala567Gly) c.1565C>G (p.Ala522Gly) | |
| 6 | g.47609202C>T | CA363942508 | CD2AP | c.1712C>T (p.Ala571Val) n.237C>T c.1700C>T (p.Ala567Val) c.1565C>T (p.Ala522Val) | |
| 6 | g.47609203T>A | CA450396987 | CD2AP | c.1713T>A (p.Ala571=) n.238T>A c.1701T>A (p.Ala567=) c.1566T>A (p.Ala522=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609203T>C | CA450396986 | CD2AP | c.1713T>C (p.Ala571=) n.238T>C c.1701T>C (p.Ala567=) c.1566T>C (p.Ala522=) | |
| 6 | g.47609203T>G | CA450396985 | CD2AP | c.1713T>G (p.Ala571=) n.238T>G c.1701T>G (p.Ala567=) c.1566T>G (p.Ala522=) | |
| 6 | g.47609203T= | CA1626462078 | CD2AP | c.1713T= (p.Ala571=) n.238T= c.1701T= (p.Ala567=) c.1566T= (p.Ala522=) | |
| 6 | g.47609204A= | CA1626462081 | CD2AP | c.1714A= (p.Lys572=) n.239A= c.1702A= (p.Lys568=) c.1567A= (p.Lys523=) | |
| 6 | g.47609204A>C | CA363942509 | CD2AP | c.1714A>C (p.Lys572Gln) n.239A>C c.1702A>C (p.Lys568Gln) c.1567A>C (p.Lys523Gln) | |
| 6 | g.47609204A>G | CA363942510 | CD2AP | c.1714A>G (p.Lys572Glu) n.239A>G c.1702A>G (p.Lys568Glu) c.1567A>G (p.Lys523Glu) | dbSNP |
| 6 | g.47609204A>T | CA363942511 | CD2AP | c.1714A>T (p.Lys572Ter) n.239A>T c.1702A>T (p.Lys568Ter) c.1567A>T (p.Lys523Ter) | |
| 6 | g.47609205A= | CA1626462083 | CD2AP | c.1715A= (p.Lys572=) n.240A= c.1703A= (p.Lys568=) c.1568A= (p.Lys523=) | |
| 6 | g.47609205A>C | CA137928427 | CD2AP | c.1715A>C (p.Lys572Thr) n.240A>C c.1703A>C (p.Lys568Thr) c.1568A>C (p.Lys523Thr) | dbSNP |
| 6 | g.47609205A>G | CA363942512 | CD2AP | c.1715A>G (p.Lys572Arg) n.240A>G c.1703A>G (p.Lys568Arg) c.1568A>G (p.Lys523Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609205A>T | CA363942513 | CD2AP | c.1715A>T (p.Lys572Ile) n.240A>T c.1703A>T (p.Lys568Ile) c.1568A>T (p.Lys523Ile) | |
| 6 | g.47609206A>C | CA363942515 | CD2AP | c.1716A>C (p.Lys572Asn) n.241A>C c.1704A>C (p.Lys568Asn) c.1569A>C (p.Lys523Asn) | |
| 6 | g.47609206A>G | CA450396988 | CD2AP | c.1716A>G (p.Lys572=) n.241A>G c.1704A>G (p.Lys568=) c.1569A>G (p.Lys523=) | |
| 6 | g.47609206A>T | CA363942514 | CD2AP | c.1716A>T (p.Lys572Asn) n.241A>T c.1704A>T (p.Lys568Asn) c.1569A>T (p.Lys523Asn) | |
| 6 | g.47609207G>A | CA363942516 | CD2AP | c.1717G>A (p.Val573Met) n.242G>A c.1705G>A (p.Val569Met) c.1570G>A (p.Val524Met) | |
| 6 | g.47609207G>C | CA363942517 | CD2AP | c.1717G>C (p.Val573Leu) n.242G>C c.1705G>C (p.Val569Leu) c.1570G>C (p.Val524Leu) | |
| 6 | g.47609207G>T | CA363942518 | CD2AP | c.1717G>T (p.Val573Leu) n.242G>T c.1705G>T (p.Val569Leu) c.1570G>T (p.Val524Leu) | |
| 6 | g.47609208T>A | CA363942519 | CD2AP | c.1718T>A (p.Val573Glu) n.243T>A c.1706T>A (p.Val569Glu) c.1571T>A (p.Val524Glu) | |
| 6 | g.47609208T>C | CA363942520 | CD2AP | c.1718T>C (p.Val573Ala) n.243T>C c.1706T>C (p.Val569Ala) c.1571T>C (p.Val524Ala) | |
| 6 | g.47609208T>G | CA363942521 | CD2AP | c.1718T>G (p.Val573Gly) n.243T>G c.1706T>G (p.Val569Gly) c.1571T>G (p.Val524Gly) | |
| 6 | g.47609209G>A | CA450396990 | CD2AP | c.1719G>A (p.Val573=) n.244G>A c.1707G>A (p.Val569=) c.1572G>A (p.Val524=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609209G>C | CA450396991 | CD2AP | c.1719G>C (p.Val573=) n.244G>C c.1707G>C (p.Val569=) c.1572G>C (p.Val524=) | |
| 6 | g.47609209G= | CA1626462087 | CD2AP | c.1719G= (p.Val573=) n.244G= c.1707G= (p.Val569=) c.1572G= (p.Val524=) | |
| 6 | g.47609209G>T | CA450396992 | CD2AP | c.1719G>T (p.Val573=) n.244G>T c.1707G>T (p.Val569=) c.1572G>T (p.Val524=) | |
| 6 | g.47609210G>A | CA363942522 | CD2AP | c.1720G>A (p.Glu574Lys) n.245G>A c.1708G>A (p.Glu570Lys) c.1573G>A (p.Glu525Lys) | |
| 6 | g.47609210G>C | CA363942523 | CD2AP | c.1720G>C (p.Glu574Gln) n.245G>C c.1708G>C (p.Glu570Gln) c.1573G>C (p.Glu525Gln) | |
| 6 | g.47609210G>T | CA363942524 | CD2AP | c.1720G>T (p.Glu574Ter) n.245G>T c.1708G>T (p.Glu570Ter) c.1573G>T (p.Glu525Ter) | gnomAD v4 |
| 6 | g.47609211A= | CA1626462090 | CD2AP | c.1721A= (p.Glu574=) n.246A= c.1709A= (p.Glu570=) c.1574A= (p.Glu525=) | |
| 6 | g.47609211A>C | CA363942525 | CD2AP | c.1721A>C (p.Glu574Ala) n.246A>C c.1709A>C (p.Glu570Ala) c.1574A>C (p.Glu525Ala) | |
| 6 | g.47609211A>G | CA363942526 | CD2AP | c.1721A>G (p.Glu574Gly) n.246A>G c.1709A>G (p.Glu570Gly) c.1574A>G (p.Glu525Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47609211A>T | CA363942527 | CD2AP | c.1721A>T (p.Glu574Val) n.246A>T c.1709A>T (p.Glu570Val) c.1574A>T (p.Glu525Val) | |
| 6 | g.47609212A>C | CA363942529 | CD2AP | c.1722A>C (p.Glu574Asp) n.247A>C c.1710A>C (p.Glu570Asp) c.1575A>C (p.Glu525Asp) | |
| 6 | g.47609212A>G | CA450396994 | CD2AP | c.1722A>G (p.Glu574=) n.247A>G c.1710A>G (p.Glu570=) c.1575A>G (p.Glu525=) | |
| 6 | g.47609212A>T | CA363942528 | CD2AP | c.1722A>T (p.Glu574Asp) n.247A>T c.1710A>T (p.Glu570Asp) c.1575A>T (p.Glu525Asp) | |
| 6 | g.47609213A>C | CA363942530 | CD2AP | c.1723A>C (p.Thr575Pro) n.248A>C c.1711A>C (p.Thr571Pro) c.1576A>C (p.Thr526Pro) | |
| 6 | g.47609213A>G | CA363942531 | CD2AP | c.1723A>G (p.Thr575Ala) n.248A>G c.1711A>G (p.Thr571Ala) c.1576A>G (p.Thr526Ala) | gnomAD v4 |
| 6 | g.47609213A>T | CA363942532 | CD2AP | c.1723A>T (p.Thr575Ser) n.248A>T c.1711A>T (p.Thr571Ser) c.1576A>T (p.Thr526Ser) | gnomAD v4 |
| 6 | g.47609214C>A | CA363942533 | CD2AP | c.1724C>A (p.Thr575Lys) n.249C>A c.1712C>A (p.Thr571Lys) c.1577C>A (p.Thr526Lys) | |
| 6 | g.47609214C>G | CA363942534 | CD2AP | c.1724C>G (p.Thr575Arg) n.249C>G c.1712C>G (p.Thr571Arg) c.1577C>G (p.Thr526Arg) | gnomAD v4 |
| 6 | g.47609214C>T | CA363942535 | CD2AP | c.1724C>T (p.Thr575Ile) n.249C>T c.1712C>T (p.Thr571Ile) c.1577C>T (p.Thr526Ile) | gnomAD v4 |
| 6 | g.47609215A= | CA1626462092 | CD2AP | c.1725A= (p.Thr575=) n.250A= c.1713A= (p.Thr571=) c.1578A= (p.Thr526=) | |
| 6 | g.47609215A>C | CA450396996 | CD2AP | c.1725A>C (p.Thr575=) n.250A>C c.1713A>C (p.Thr571=) c.1578A>C (p.Thr526=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47609215A>G | CA450396997 | CD2AP | c.1725A>G (p.Thr575=) n.250A>G c.1713A>G (p.Thr571=) c.1578A>G (p.Thr526=) | gnomAD v4 |
| 6 | g.47609215A>T | CA450396998 | CD2AP | c.1725A>T (p.Thr575=) n.250A>T c.1713A>T (p.Thr571=) c.1578A>T (p.Thr526=) | |
| 6 | g.47609216G>A | CA363942538 | CD2AP | c.1726G>A (p.Asp576Asn) n.251G>A c.1714G>A (p.Asp572Asn) c.1579G>A (p.Asp527Asn) | |
| 6 | g.47609216G>C | CA363942536 | CD2AP | c.1726G>C (p.Asp576His) n.251G>C c.1714G>C (p.Asp572His) c.1579G>C (p.Asp527His) | |
| 6 | g.47609216G>T | CA363942537 | CD2AP | c.1726G>T (p.Asp576Tyr) n.251G>T c.1714G>T (p.Asp572Tyr) c.1579G>T (p.Asp527Tyr) | |
| 6 | g.47609217A= | CA1626462095 | CD2AP | c.1727A= (p.Asp576=) n.252A= c.1715A= (p.Asp572=) c.1580A= (p.Asp527=) | |
| 6 | g.47609217A>C | CA363942539 | CD2AP | c.1727A>C (p.Asp576Ala) n.252A>C c.1715A>C (p.Asp572Ala) c.1580A>C (p.Asp527Ala) | |
| 6 | g.47609217A>G | CA3844439 | CD2AP | c.1727A>G (p.Asp576Gly) n.252A>G c.1715A>G (p.Asp572Gly) c.1580A>G (p.Asp527Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609217A>T | CA3844440 | CD2AP | c.1727A>T (p.Asp576Val) n.252A>T c.1715A>T (p.Asp572Val) c.1580A>T (p.Asp527Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47609218T>A | CA363942540 | CD2AP | c.1728T>A (p.Asp576Glu) n.253T>A c.1716T>A (p.Asp572Glu) c.1581T>A (p.Asp527Glu) | gnomAD v4 |
| 6 | g.47609218T>C | CA450397001 | CD2AP | c.1728T>C (p.Asp576=) n.253T>C c.1716T>C (p.Asp572=) c.1581T>C (p.Asp527=) | gnomAD v4 |
| 6 | g.47609218T>G | CA363942541 | CD2AP | c.1728T>G (p.Asp576Glu) n.253T>G c.1716T>G (p.Asp572Glu) c.1581T>G (p.Asp527Glu) | |
| 6 | g.47609219G>A | CA363942542 | CD2AP | c.1729G>A (p.Asp577Asn) n.254G>A c.1717G>A (p.Asp573Asn) c.1582G>A (p.Asp528Asn) | gnomAD v4 |
| 6 | g.47609219G>C | CA363942544 | CD2AP | c.1729G>C (p.Asp577His) n.254G>C c.1717G>C (p.Asp573His) c.1582G>C (p.Asp528His) | |
| 6 | g.47609219G>T | CA363942543 | CD2AP | c.1729G>T (p.Asp577Tyr) n.254G>T c.1717G>T (p.Asp573Tyr) c.1582G>T (p.Asp528Tyr) | |
| 6 | g.47609220A= | CA1626462103 | CD2AP | c.1730A= (p.Asp577=) n.255A= c.1718A= (p.Asp573=) c.1583A= (p.Asp528=) | |
| 6 | g.47609220A>C | CA363942545 | CD2AP | c.1730A>C (p.Asp577Ala) n.255A>C c.1718A>C (p.Asp573Ala) c.1583A>C (p.Asp528Ala) | |
| 6 | g.47609220A>G | CA363942546 | CD2AP | c.1730A>G (p.Asp577Gly) n.255A>G c.1718A>G (p.Asp573Gly) c.1583A>G (p.Asp528Gly) | |
| 6 | g.47609220A>T | CA3844441 | CD2AP | c.1730A>T (p.Asp577Val) n.255A>T c.1718A>T (p.Asp573Val) c.1583A>T (p.Asp528Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609221T>A | CA363942547 | CD2AP | c.1731T>A (p.Asp577Glu) n.256T>A c.1719T>A (p.Asp573Glu) c.1584T>A (p.Asp528Glu) | |
| 6 | g.47609221T>C | CA450397003 | CD2AP | c.1731T>C (p.Asp577=) n.256T>C c.1719T>C (p.Asp573=) c.1584T>C (p.Asp528=) | gnomAD v4 |
| 6 | g.47609221T>G | CA363942548 | CD2AP | c.1731T>G (p.Asp577Glu) n.256T>G c.1719T>G (p.Asp573Glu) c.1584T>G (p.Asp528Glu) | |
| 6 | g.47609222G>A | CA363942549 | CD2AP | c.1732G>A (p.Val578Met) n.257G>A c.1720G>A (p.Val574Met) c.1585G>A (p.Val529Met) | gnomAD v4 |
| 6 | g.47609222G>C | CA363942550 | CD2AP | c.1732G>C (p.Val578Leu) n.257G>C c.1720G>C (p.Val574Leu) c.1585G>C (p.Val529Leu) | |
| 6 | g.47609222G>T | CA363942551 | CD2AP | c.1732G>T (p.Val578Leu) n.257G>T c.1720G>T (p.Val574Leu) c.1585G>T (p.Val529Leu) | gnomAD v4 |
| 6 | g.47609223T>A | CA363942552 | CD2AP | c.1733T>A (p.Val578Glu) n.258T>A c.1721T>A (p.Val574Glu) c.1586T>A (p.Val529Glu) | |
| 6 | g.47609223T>C | CA363942553 | CD2AP | c.1733T>C (p.Val578Ala) n.258T>C c.1721T>C (p.Val574Ala) c.1586T>C (p.Val529Ala) | |
| 6 | g.47609223T>G | CA363942554 | CD2AP | c.1733T>G (p.Val578Gly) n.258T>G c.1721T>G (p.Val574Gly) c.1586T>G (p.Val529Gly) | |
| 6 | g.47609224G>A | CA450397005 | CD2AP | c.1734G>A (p.Val578=) n.259G>A c.1722G>A (p.Val574=) c.1587G>A (p.Val529=) | |
| 6 | g.47609224G>C | CA450397006 | CD2AP | c.1734G>C (p.Val578=) n.259G>C c.1722G>C (p.Val574=) c.1587G>C (p.Val529=) | |
| 6 | g.47609224G>T | CA450397007 | CD2AP | c.1734G>T (p.Val578=) n.259G>T c.1722G>T (p.Val574=) c.1587G>T (p.Val529=) | |
| 6 | g.47609224dup | CA2679027992 | CD2AP | c.1734dup (p.Lys579GlufsTer7) n.259dup c.1722dup (p.Lys575GlufsTer7) c.1587dup (p.Lys530GlufsTer7) | gnomAD v4 |
| 6 | g.47609224_47609225delinsGA | CA1626462106 | CD2AP | c.1734_1735delinsGA (p.Val578=) n.259_260delinsGA c.1722_1723delinsGA (p.Val574=) c.1587_1588delinsGA (p.Val529=) | |
| 6 | g.47609225A>C | CA363942557 | CD2AP | c.1735A>C (p.Lys579Gln) n.260A>C c.1723A>C (p.Lys575Gln) c.1588A>C (p.Lys530Gln) | |
| 6 | g.47609225A>G | CA363942556 | CD2AP | c.1735A>G (p.Lys579Glu) n.260A>G c.1723A>G (p.Lys575Glu) c.1588A>G (p.Lys530Glu) | |
| 6 | g.47609225A>T | CA363942555 | CD2AP | c.1735A>T (p.Lys579Ter) n.260A>T c.1723A>T (p.Lys575Ter) c.1588A>T (p.Lys530Ter) | |
| 6 | g.47609232dup | CA3844442 | CD2AP | c.1742dup (p.Asn581LysfsTer5) n.267dup c.1730dup (p.Asn577LysfsTer5) c.1595dup (p.Asn532LysfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.47609231_47609232dup | CA2770948558 | CD2AP | c.1741_1742dup (p.Asn581LysfsTer18) n.266_267dup c.1729_1730dup (p.Asn577LysfsTer18) c.1594_1595dup (p.Asn532LysfsTer18) | |
| 6 | g.47609232del | CA450397008 | CD2AP | c.1742del (p.Asn581IlefsTer17) n.267del c.1730del (p.Asn577IlefsTer17) c.1595del (p.Asn532IlefsTer17) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.47609226A>C | CA363942558 | CD2AP | c.1736A>C (p.Lys579Thr) n.261A>C c.1724A>C (p.Lys575Thr) c.1589A>C (p.Lys530Thr) | |
| 6 | g.47609226A>G | CA363942559 | CD2AP | c.1736A>G (p.Lys579Arg) n.261A>G c.1724A>G (p.Lys575Arg) c.1589A>G (p.Lys530Arg) | |
| 6 | g.47609226A>T | CA363942560 | CD2AP | c.1736A>T (p.Lys579Ile) n.261A>T c.1724A>T (p.Lys575Ile) c.1589A>T (p.Lys530Ile) | |
| 6 | g.47609227A>C | CA363942561 | CD2AP | c.1737A>C (p.Lys579Asn) n.262A>C c.1725A>C (p.Lys575Asn) c.1590A>C (p.Lys530Asn) | |
| 6 | g.47609227A>G | CA450397010 | CD2AP | c.1737A>G (p.Lys579=) n.262A>G c.1725A>G (p.Lys575=) c.1590A>G (p.Lys530=) | |
| 6 | g.47609227A>T | CA363942562 | CD2AP | c.1737A>T (p.Lys579Asn) n.262A>T c.1725A>T (p.Lys575Asn) c.1590A>T (p.Lys530Asn) | |
| 6 | g.47609228A>C | CA363942565 | CD2AP | c.1738A>C (p.Lys580Gln) n.263A>C c.1726A>C (p.Lys576Gln) c.1591A>C (p.Lys531Gln) | |
| 6 | g.47609228A>G | CA363942563 | CD2AP | c.1738A>G (p.Lys580Glu) n.263A>G c.1726A>G (p.Lys576Glu) c.1591A>G (p.Lys531Glu) | |
| 6 | g.47609228A>T | CA363942564 | CD2AP | c.1738A>T (p.Lys580Ter) n.263A>T c.1726A>T (p.Lys576Ter) c.1591A>T (p.Lys531Ter) | |
| 6 | g.47609229A>C | CA363942566 | CD2AP | c.1739A>C (p.Lys580Thr) n.264A>C c.1727A>C (p.Lys576Thr) c.1592A>C (p.Lys531Thr) | |
| 6 | g.47609229A>G | CA363942567 | CD2AP | c.1739A>G (p.Lys580Arg) n.264A>G c.1727A>G (p.Lys576Arg) c.1592A>G (p.Lys531Arg) | |
| 6 | g.47609229A>T | CA363942568 | CD2AP | c.1739A>T (p.Lys580Ile) n.264A>T c.1727A>T (p.Lys576Ile) c.1592A>T (p.Lys531Ile) | |
| 6 | g.47609230A>C | CA363942569 | CD2AP | c.1740A>C (p.Lys580Asn) n.265A>C c.1728A>C (p.Lys576Asn) c.1593A>C (p.Lys531Asn) | |
| 6 | g.47609230A>G | CA450397011 | CD2AP | c.1740A>G (p.Lys580=) n.265A>G c.1728A>G (p.Lys576=) c.1593A>G (p.Lys531=) | |
| 6 | g.47609230A>T | CA363942570 | CD2AP | c.1740A>T (p.Lys580Asn) n.265A>T c.1728A>T (p.Lys576Asn) c.1593A>T (p.Lys531Asn) | |
| 6 | g.47609231A>C | CA363942573 | CD2AP | c.1741A>C (p.Asn581His) n.266A>C c.1729A>C (p.Asn577His) c.1594A>C (p.Asn532His) | |
| 6 | g.47609231A>G | CA363942571 | CD2AP | c.1741A>G (p.Asn581Asp) n.266A>G c.1729A>G (p.Asn577Asp) c.1594A>G (p.Asn532Asp) | gnomAD v4 |
| 6 | g.47609231A>T | CA363942572 | CD2AP | c.1741A>T (p.Asn581Tyr) n.266A>T c.1729A>T (p.Asn577Tyr) c.1594A>T (p.Asn532Tyr) | |
| 6 | g.47609232A>C | CA363942574 | CD2AP | c.1742A>C (p.Asn581Thr) n.267A>C c.1730A>C (p.Asn577Thr) c.1595A>C (p.Asn532Thr) | |
| 6 | g.47609232A>G | CA363942575 | CD2AP | c.1742A>G (p.Asn581Ser) n.267A>G c.1730A>G (p.Asn577Ser) c.1595A>G (p.Asn532Ser) | |
| 6 | g.47609232A>T | CA363942576 | CD2AP | c.1742A>T (p.Asn581Ile) n.267A>T c.1730A>T (p.Asn577Ile) c.1595A>T (p.Asn532Ile) | |
| 6 | g.47609233T>A | CA3844443 | CD2AP | c.1743T>A (p.Asn581Lys) n.268T>A c.1731T>A (p.Asn577Lys) c.1596T>A (p.Asn532Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47609233T>C | CA450397013 | CD2AP | c.1743T>C (p.Asn581=) n.268T>C c.1731T>C (p.Asn577=) c.1596T>C (p.Asn532=) | |
| 6 | g.47609233T>G | CA363942577 | CD2AP | c.1743T>G (p.Asn581Lys) n.268T>G c.1731T>G (p.Asn577Lys) c.1596T>G (p.Asn532Lys) | |
| 6 | g.47609233T= | CA1626462116 | CD2AP | c.1743T= (p.Asn581=) n.268T= c.1731T= (p.Asn577=) c.1596T= (p.Asn532=) | |
| 6 | g.47609234T>A | CA363942578 | CD2AP | c.1744T>A (p.Ser582Thr) n.269T>A c.1732T>A (p.Ser578Thr) c.1597T>A (p.Ser533Thr) | gnomAD v4 |
| 6 | g.47609234T>C | CA363942579 | CD2AP | c.1744T>C (p.Ser582Pro) n.269T>C c.1732T>C (p.Ser578Pro) c.1597T>C (p.Ser533Pro) | dbSNP |
| 6 | g.47609234T>G | CA363942580 | CD2AP | c.1744T>G (p.Ser582Ala) n.269T>G c.1732T>G (p.Ser578Ala) c.1597T>G (p.Ser533Ala) | |
| 6 | g.47609234T= | CA1626462120 | CD2AP | c.1744T= (p.Ser582=) n.269T= c.1732T= (p.Ser578=) c.1597T= (p.Ser533=) | |
| 6 | g.47609234_47609235insTCTGATTTTATTTAATATTATATTTA | CA917741970 | CD2AP | c.1744_1745insTCTGATTTTATTTAATATTATATTTA (p.Ser582PhefsTer2) n.269_270insTCTGATTTTATTTAATATTATATTTA c.1732_1733insTCTGATTTTATTTAATATTATATTTA (p.Ser578PhefsTer2) c.1597_1598insTCTGATTTTATTTAATATTATATTTA (p.Ser533PhefsTer2) | dbSNP |
| 6 | g.47609235C>A | CA363942581 | CD2AP | c.1745C>A (p.Ser582Tyr) n.270C>A c.1733C>A (p.Ser578Tyr) c.1598C>A (p.Ser533Tyr) | gnomAD v4 |
| 6 | g.47609235C= | CA1626462125 | CD2AP | c.1745C= (p.Ser582=) n.270C= c.1733C= (p.Ser578=) c.1598C= (p.Ser533=) | |
| 6 | g.47609235C>G | CA363942582 | CD2AP | c.1745C>G (p.Ser582Cys) n.270C>G c.1733C>G (p.Ser578Cys) c.1598C>G (p.Ser533Cys) | COSMIC |
| 6 | g.47609235C>T | CA137928447 | CD2AP | c.1745C>T (p.Ser582Phe) n.270C>T c.1733C>T (p.Ser578Phe) c.1598C>T (p.Ser533Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.47609236C>A | CA450397014 | CD2AP | c.1746C>A (p.Ser582=) n.271C>A c.1734C>A (p.Ser578=) c.1599C>A (p.Ser533=) | gnomAD v4 |
| 6 | g.47609236C>G | CA450397015 | CD2AP | c.1746C>G (p.Ser582=) n.271C>G c.1734C>G (p.Ser578=) c.1599C>G (p.Ser533=) | |
| 6 | g.47609236C>T | CA450397016 | CD2AP | c.1746C>T (p.Ser582=) n.271C>T c.1734C>T (p.Ser578=) c.1599C>T (p.Ser533=) | ClinVar COSMIC |
| 6 | g.47609237C>A | CA363942583 | CD2AP | c.1747C>A (p.Leu583Met) n.272C>A c.1735C>A (p.Leu579Met) c.1600C>A (p.Leu534Met) | |
| 6 | g.47609237C>G | CA363942584 | CD2AP | c.1747C>G (p.Leu583Val) n.272C>G c.1735C>G (p.Leu579Val) c.1600C>G (p.Leu534Val) | |
| 6 | g.47609237C>T | CA450397018 | CD2AP | c.1747C>T (p.Leu583=) n.272C>T c.1735C>T (p.Leu579=) c.1600C>T (p.Leu534=) | gnomAD v4 |
| 6 | g.47609238T>A | CA363942586 | CD2AP | c.1748T>A (p.Leu583Gln) n.273T>A c.1736T>A (p.Leu579Gln) c.1601T>A (p.Leu534Gln) | gnomAD v4 |
| 6 | g.47609238T>C | CA3844444 | CD2AP | c.1748T>C (p.Leu583Pro) n.273T>C c.1736T>C (p.Leu579Pro) c.1601T>C (p.Leu534Pro) | dbSNP ExAC gnomAD v2 |
| 6 | g.47609238T>G | CA363942585 | CD2AP | c.1748T>G (p.Leu583Arg) n.273T>G c.1736T>G (p.Leu579Arg) c.1601T>G (p.Leu534Arg) | |
| 6 | g.47609238T= | CA1626462132 | CD2AP | c.1748T= (p.Leu583=) n.273T= c.1736T= (p.Leu579=) c.1601T= (p.Leu534=) | |
| 6 | g.47609239G>A | CA450397019 | CD2AP | c.1749G>A (p.Leu583=) n.274G>A c.1737G>A (p.Leu579=) c.1602G>A (p.Leu534=) | gnomAD v4 |
| 6 | g.47609239G>C | CA450397020 | CD2AP | c.1749G>C (p.Leu583=) n.274G>C c.1737G>C (p.Leu579=) c.1602G>C (p.Leu534=) | |
| 6 | g.47609239G>T | CA450397021 | CD2AP | c.1749G>T (p.Leu583=) n.274G>T c.1737G>T (p.Leu579=) c.1602G>T (p.Leu534=) | |
| 6 | g.47609240G>A | CA363942587 | CD2AP | c.1750G>A (p.Asp584Asn) n.275G>A c.1738G>A (p.Asp580Asn) c.1603G>A (p.Asp535Asn) | |
| 6 | g.47609240G>C | CA363942588 | CD2AP | c.1750G>C (p.Asp584His) n.275G>C c.1738G>C (p.Asp580His) c.1603G>C (p.Asp535His) | |
| 6 | g.47609240G>T | CA363942589 | CD2AP | c.1750G>T (p.Asp584Tyr) n.275G>T c.1738G>T (p.Asp580Tyr) c.1603G>T (p.Asp535Tyr) | gnomAD v4 |
| 6 | g.47609241A>C | CA363942590 | CD2AP | c.1751A>C (p.Asp584Ala) n.276A>C c.1739A>C (p.Asp580Ala) c.1604A>C (p.Asp535Ala) | |
| 6 | g.47609241A>G | CA363942591 | CD2AP | c.1751A>G (p.Asp584Gly) n.276A>G c.1739A>G (p.Asp580Gly) c.1604A>G (p.Asp535Gly) | gnomAD v4 |
| 6 | g.47609241A>T | CA363942592 | CD2AP | c.1751A>T (p.Asp584Val) n.276A>T c.1739A>T (p.Asp580Val) c.1604A>T (p.Asp535Val) |