Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61483373dupCA2576344909TBX4c.1498dup (p.Gln500ProfsTer4)
c.1495dup (p.Gln499ProfsTer4)
c.1687dup (p.Gln563ProfsTer4)
c.1684dup (p.Gln562ProfsTer4)
17g.61483370C>ACA400476934TBX4c.1495C>A (p.Pro499Thr)
c.1492C>A (p.Pro498Thr)
n.1161C>A
c.1684C>A (p.Pro562Thr)
c.1681C>A (p.Pro561Thr)
17g.61483370C>GCA400476935TBX4c.1495C>G (p.Pro499Ala)
c.1492C>G (p.Pro498Ala)
n.1161C>G
c.1684C>G (p.Pro562Ala)
c.1681C>G (p.Pro561Ala)
17g.61483370C>TCA400476937TBX4c.1495C>T (p.Pro499Ser)
c.1492C>T (p.Pro498Ser)
n.1161C>T
c.1684C>T (p.Pro562Ser)
c.1681C>T (p.Pro561Ser)
17g.61483371C>ACA400476939TBX4c.1496C>A (p.Pro499His)
c.1493C>A (p.Pro498His)
c.1685C>A (p.Pro562His)
c.1682C>A (p.Pro561His)
17g.61483371C>GCA400476942TBX4c.1496C>G (p.Pro499Arg)
c.1493C>G (p.Pro498Arg)
c.1685C>G (p.Pro562Arg)
c.1682C>G (p.Pro561Arg)
gnomAD v4
17g.61483371C>TCA400476941TBX4c.1496C>T (p.Pro499Leu)
c.1493C>T (p.Pro498Leu)
c.1685C>T (p.Pro562Leu)
c.1682C>T (p.Pro561Leu)
COSMIC
17g.61483372C>ACA501143718TBX4c.1497C>A (p.Pro499=)
c.1494C>A (p.Pro498=)
c.1686C>A (p.Pro562=)
c.1683C>A (p.Pro561=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61483372C=CA2269043658TBX4c.1497C= (p.Pro499=)
c.1494C= (p.Pro498=)
c.1686C= (p.Pro562=)
c.1683C= (p.Pro561=)
17g.61483372C>GCA8690110TBX4c.1497C>G (p.Pro499=)
c.1494C>G (p.Pro498=)
c.1686C>G (p.Pro562=)
c.1683C>G (p.Pro561=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61483372C>TCA8690111TBX4c.1497C>T (p.Pro499=)
c.1494C>T (p.Pro498=)
c.1686C>T (p.Pro562=)
c.1683C>T (p.Pro561=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.61483373C>ACA400476946TBX4c.1498C>A (p.Gln500Lys)
c.1495C>A (p.Gln499Lys)
c.1687C>A (p.Gln563Lys)
c.1684C>A (p.Gln562Lys)
dbSNP
17g.61483373C=CA2269043659TBX4c.1498C= (p.Gln500=)
c.1495C= (p.Gln499=)
c.1687C= (p.Gln563=)
c.1684C= (p.Gln562=)
17g.61483373C>GCA400476947TBX4c.1498C>G (p.Gln500Glu)
c.1495C>G (p.Gln499Glu)
c.1687C>G (p.Gln563Glu)
c.1684C>G (p.Gln562Glu)
dbSNP
17g.61483373C>TCA400476950TBX4c.1498C>T (p.Gln500Ter)
c.1495C>T (p.Gln499Ter)
c.1687C>T (p.Gln563Ter)
c.1684C>T (p.Gln562Ter)
dbSNP
17g.61483374A=CA2269043660TBX4c.1499A= (p.Gln500=)
c.1496A= (p.Gln499=)
c.1688A= (p.Gln563=)
c.1685A= (p.Gln562=)
17g.61483374A>CCA400476951TBX4c.1499A>C (p.Gln500Pro)
c.1496A>C (p.Gln499Pro)
c.1688A>C (p.Gln563Pro)
c.1685A>C (p.Gln562Pro)
dbSNP
17g.61483374A>GCA8690112TBX4c.1499A>G (p.Gln500Arg)
c.1496A>G (p.Gln499Arg)
c.1688A>G (p.Gln563Arg)
c.1685A>G (p.Gln562Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61483374A>TCA400476953TBX4c.1499A>T (p.Gln500Leu)
c.1496A>T (p.Gln499Leu)
c.1688A>T (p.Gln563Leu)
c.1685A>T (p.Gln562Leu)
17g.61483375A=CA2269043661TBX4c.1500A= (p.Gln500=)
c.1497A= (p.Gln499=)
c.1689A= (p.Gln563=)
c.1686A= (p.Gln562=)
17g.61483375A>CCA400476954TBX4c.1500A>C (p.Gln500His)
c.1497A>C (p.Gln499His)
c.1689A>C (p.Gln563His)
c.1686A>C (p.Gln562His)
17g.61483375A>GCA292269058TBX4c.1500A>G (p.Gln500=)
c.1497A>G (p.Gln499=)
c.1689A>G (p.Gln563=)
c.1686A>G (p.Gln562=)
dbSNP gnomAD v3 gnomAD v4
17g.61483375A>TCA400476956TBX4c.1500A>T (p.Gln500His)
c.1497A>T (p.Gln499His)
c.1689A>T (p.Gln563His)
c.1686A>T (p.Gln562His)
17g.61483377_61483384dupCA2639152227TBX4c.1502_1509dup (p.Arg504GlyfsTer11)
c.1499_1506dup (p.Arg503GlyfsTer11)
c.1691_1698dup (p.Arg567GlyfsTer11)
c.1688_1695dup (p.Arg566GlyfsTer11)
gnomAD v4
17g.61483376G>ACA400476957TBX4c.1501G>A (p.Gly501Arg)
c.1498G>A (p.Gly500Arg)
c.1690G>A (p.Gly564Arg)
c.1687G>A (p.Gly563Arg)
dbSNP COSMIC
17g.61483376G>CCA400476958TBX4c.1501G>C (p.Gly501Arg)
c.1498G>C (p.Gly500Arg)
c.1690G>C (p.Gly564Arg)
c.1687G>C (p.Gly563Arg)
dbSNP
17g.61483376G=CA2269043662TBX4c.1501G= (p.Gly501=)
c.1498G= (p.Gly500=)
c.1690G= (p.Gly564=)
c.1687G= (p.Gly563=)
17g.61483376G>TCA400476960TBX4c.1501G>T (p.Gly501Trp)
c.1498G>T (p.Gly500Trp)
c.1690G>T (p.Gly564Trp)
c.1687G>T (p.Gly563Trp)
17g.61483377G>ACA400476965TBX4c.1502G>A (p.Gly501Glu)
c.1499G>A (p.Gly500Glu)
c.1691G>A (p.Gly564Glu)
c.1688G>A (p.Gly563Glu)
17g.61483377G>CCA400476961TBX4c.1502G>C (p.Gly501Ala)
c.1499G>C (p.Gly500Ala)
c.1691G>C (p.Gly564Ala)
c.1688G>C (p.Gly563Ala)
17g.61483377G>TCA400476963TBX4c.1502G>T (p.Gly501Val)
c.1499G>T (p.Gly500Val)
c.1691G>T (p.Gly564Val)
c.1688G>T (p.Gly563Val)
17g.61483378G>ACA501143747TBX4c.1503G>A (p.Gly501=)
c.1500G>A (p.Gly500=)
c.1692G>A (p.Gly564=)
c.1689G>A (p.Gly563=)
gnomAD v4
17g.61483378G>CCA501143745TBX4c.1503G>C (p.Gly501=)
c.1500G>C (p.Gly500=)
c.1692G>C (p.Gly564=)
c.1689G>C (p.Gly563=)
17g.61483378G>TCA501143743TBX4c.1503G>T (p.Gly501=)
c.1500G>T (p.Gly500=)
c.1692G>T (p.Gly564=)
c.1689G>T (p.Gly563=)
17g.61483379T>ACA400476966TBX4c.1504T>A (p.Cys502Ser)
c.1501T>A (p.Cys501Ser)
c.1693T>A (p.Cys565Ser)
c.1690T>A (p.Cys564Ser)
17g.61483379T>CCA8690113TBX4c.1504T>C (p.Cys502Arg)
c.1501T>C (p.Cys501Arg)
c.1693T>C (p.Cys565Arg)
c.1690T>C (p.Cys564Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61483379T>GCA400476968TBX4c.1504T>G (p.Cys502Gly)
c.1501T>G (p.Cys501Gly)
c.1693T>G (p.Cys565Gly)
c.1690T>G (p.Cys564Gly)
17g.61483379T=CA2269043663TBX4c.1504T= (p.Cys502=)
c.1501T= (p.Cys501=)
c.1693T= (p.Cys565=)
c.1690T= (p.Cys564=)
17g.61483380G>ACA400476970TBX4c.1505G>A (p.Cys502Tyr)
c.1502G>A (p.Cys501Tyr)
c.1694G>A (p.Cys565Tyr)
c.1691G>A (p.Cys564Tyr)
dbSNP gnomAD v3 gnomAD v4
17g.61483380G>CCA400476972TBX4c.1505G>C (p.Cys502Ser)
c.1502G>C (p.Cys501Ser)
c.1694G>C (p.Cys565Ser)
c.1691G>C (p.Cys564Ser)
17g.61483380G=CA2269043664TBX4c.1505G= (p.Cys502=)
c.1502G= (p.Cys501=)
c.1694G= (p.Cys565=)
c.1691G= (p.Cys564=)
17g.61483380G>TCA400476973TBX4c.1505G>T (p.Cys502Phe)
c.1502G>T (p.Cys501Phe)
c.1694G>T (p.Cys565Phe)
c.1691G>T (p.Cys564Phe)
17g.61483381T>ACA400476975TBX4c.1506T>A (p.Cys502Ter)
c.1503T>A (p.Cys501Ter)
c.1695T>A (p.Cys565Ter)
c.1692T>A (p.Cys564Ter)
17g.61483381T>CCA501143759TBX4c.1506T>C (p.Cys502=)
c.1503T>C (p.Cys501=)
c.1695T>C (p.Cys565=)
c.1692T>C (p.Cys564=)
17g.61483381T>GCA400476977TBX4c.1506T>G (p.Cys502Trp)
c.1503T>G (p.Cys501Trp)
c.1695T>G (p.Cys565Trp)
c.1692T>G (p.Cys564Trp)
17g.61483382G>ACA400476978TBX4c.1507G>A (p.Glu503Lys)
c.1504G>A (p.Glu502Lys)
c.1696G>A (p.Glu566Lys)
c.1693G>A (p.Glu565Lys)
17g.61483382G>CCA400476980TBX4c.1507G>C (p.Glu503Gln)
c.1504G>C (p.Glu502Gln)
c.1696G>C (p.Glu566Gln)
c.1693G>C (p.Glu565Gln)
17g.61483382G>TCA400476981TBX4c.1507G>T (p.Glu503Ter)
c.1504G>T (p.Glu502Ter)
c.1696G>T (p.Glu566Ter)
c.1693G>T (p.Glu565Ter)
17g.61483383A=CA2269043665TBX4c.1508A= (p.Glu503=)
c.1505A= (p.Glu502=)
c.1697A= (p.Glu566=)
c.1694A= (p.Glu565=)
17g.61483383A>CCA400476986TBX4c.1508A>C (p.Glu503Ala)
c.1505A>C (p.Glu502Ala)
c.1697A>C (p.Glu566Ala)
c.1694A>C (p.Glu565Ala)

Number of alleles fetched