Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.61483373dup | CA2576344909 | TBX4 | c.1498dup (p.Gln500ProfsTer4) c.1495dup (p.Gln499ProfsTer4) c.1687dup (p.Gln563ProfsTer4) c.1684dup (p.Gln562ProfsTer4) | |
17 | g.61483370C>A | CA400476934 | TBX4 | c.1495C>A (p.Pro499Thr) c.1492C>A (p.Pro498Thr) n.1161C>A c.1684C>A (p.Pro562Thr) c.1681C>A (p.Pro561Thr) | |
17 | g.61483370C>G | CA400476935 | TBX4 | c.1495C>G (p.Pro499Ala) c.1492C>G (p.Pro498Ala) n.1161C>G c.1684C>G (p.Pro562Ala) c.1681C>G (p.Pro561Ala) | |
17 | g.61483370C>T | CA400476937 | TBX4 | c.1495C>T (p.Pro499Ser) c.1492C>T (p.Pro498Ser) n.1161C>T c.1684C>T (p.Pro562Ser) c.1681C>T (p.Pro561Ser) | |
17 | g.61483371C>A | CA400476939 | TBX4 | c.1496C>A (p.Pro499His) c.1493C>A (p.Pro498His) c.1685C>A (p.Pro562His) c.1682C>A (p.Pro561His) | |
17 | g.61483371C>G | CA400476942 | TBX4 | c.1496C>G (p.Pro499Arg) c.1493C>G (p.Pro498Arg) c.1685C>G (p.Pro562Arg) c.1682C>G (p.Pro561Arg) | gnomAD v4 |
17 | g.61483371C>T | CA400476941 | TBX4 | c.1496C>T (p.Pro499Leu) c.1493C>T (p.Pro498Leu) c.1685C>T (p.Pro562Leu) c.1682C>T (p.Pro561Leu) | COSMIC |
17 | g.61483372C>A | CA501143718 | TBX4 | c.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 |
17 | g.61483372C= | CA2269043658 | TBX4 | c.1497C= (p.Pro499=) c.1494C= (p.Pro498=) c.1686C= (p.Pro562=) c.1683C= (p.Pro561=) | |
17 | g.61483372C>G | CA8690110 | TBX4 | c.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 |
17 | g.61483372C>T | CA8690111 | TBX4 | c.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 |
17 | g.61483373C>A | CA400476946 | TBX4 | c.1498C>A (p.Gln500Lys) c.1495C>A (p.Gln499Lys) c.1687C>A (p.Gln563Lys) c.1684C>A (p.Gln562Lys) | dbSNP |
17 | g.61483373C= | CA2269043659 | TBX4 | c.1498C= (p.Gln500=) c.1495C= (p.Gln499=) c.1687C= (p.Gln563=) c.1684C= (p.Gln562=) | |
17 | g.61483373C>G | CA400476947 | TBX4 | c.1498C>G (p.Gln500Glu) c.1495C>G (p.Gln499Glu) c.1687C>G (p.Gln563Glu) c.1684C>G (p.Gln562Glu) | dbSNP |
17 | g.61483373C>T | CA400476950 | TBX4 | c.1498C>T (p.Gln500Ter) c.1495C>T (p.Gln499Ter) c.1687C>T (p.Gln563Ter) c.1684C>T (p.Gln562Ter) | dbSNP |
17 | g.61483374A= | CA2269043660 | TBX4 | c.1499A= (p.Gln500=) c.1496A= (p.Gln499=) c.1688A= (p.Gln563=) c.1685A= (p.Gln562=) | |
17 | g.61483374A>C | CA400476951 | TBX4 | c.1499A>C (p.Gln500Pro) c.1496A>C (p.Gln499Pro) c.1688A>C (p.Gln563Pro) c.1685A>C (p.Gln562Pro) | dbSNP |
17 | g.61483374A>G | CA8690112 | TBX4 | c.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 |
17 | g.61483374A>T | CA400476953 | TBX4 | c.1499A>T (p.Gln500Leu) c.1496A>T (p.Gln499Leu) c.1688A>T (p.Gln563Leu) c.1685A>T (p.Gln562Leu) | |
17 | g.61483375A= | CA2269043661 | TBX4 | c.1500A= (p.Gln500=) c.1497A= (p.Gln499=) c.1689A= (p.Gln563=) c.1686A= (p.Gln562=) | |
17 | g.61483375A>C | CA400476954 | TBX4 | c.1500A>C (p.Gln500His) c.1497A>C (p.Gln499His) c.1689A>C (p.Gln563His) c.1686A>C (p.Gln562His) | |
17 | g.61483375A>G | CA292269058 | TBX4 | c.1500A>G (p.Gln500=) c.1497A>G (p.Gln499=) c.1689A>G (p.Gln563=) c.1686A>G (p.Gln562=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.61483375A>T | CA400476956 | TBX4 | c.1500A>T (p.Gln500His) c.1497A>T (p.Gln499His) c.1689A>T (p.Gln563His) c.1686A>T (p.Gln562His) | |
17 | g.61483377_61483384dup | CA2639152227 | TBX4 | c.1502_1509dup (p.Arg504GlyfsTer11) c.1499_1506dup (p.Arg503GlyfsTer11) c.1691_1698dup (p.Arg567GlyfsTer11) c.1688_1695dup (p.Arg566GlyfsTer11) | gnomAD v4 |
17 | g.61483376G>A | CA400476957 | TBX4 | c.1501G>A (p.Gly501Arg) c.1498G>A (p.Gly500Arg) c.1690G>A (p.Gly564Arg) c.1687G>A (p.Gly563Arg) | dbSNP COSMIC |
17 | g.61483376G>C | CA400476958 | TBX4 | c.1501G>C (p.Gly501Arg) c.1498G>C (p.Gly500Arg) c.1690G>C (p.Gly564Arg) c.1687G>C (p.Gly563Arg) | dbSNP |
17 | g.61483376G= | CA2269043662 | TBX4 | c.1501G= (p.Gly501=) c.1498G= (p.Gly500=) c.1690G= (p.Gly564=) c.1687G= (p.Gly563=) | |
17 | g.61483376G>T | CA400476960 | TBX4 | c.1501G>T (p.Gly501Trp) c.1498G>T (p.Gly500Trp) c.1690G>T (p.Gly564Trp) c.1687G>T (p.Gly563Trp) | |
17 | g.61483377G>A | CA400476965 | TBX4 | c.1502G>A (p.Gly501Glu) c.1499G>A (p.Gly500Glu) c.1691G>A (p.Gly564Glu) c.1688G>A (p.Gly563Glu) | |
17 | g.61483377G>C | CA400476961 | TBX4 | c.1502G>C (p.Gly501Ala) c.1499G>C (p.Gly500Ala) c.1691G>C (p.Gly564Ala) c.1688G>C (p.Gly563Ala) | |
17 | g.61483377G>T | CA400476963 | TBX4 | c.1502G>T (p.Gly501Val) c.1499G>T (p.Gly500Val) c.1691G>T (p.Gly564Val) c.1688G>T (p.Gly563Val) | |
17 | g.61483378G>A | CA501143747 | TBX4 | c.1503G>A (p.Gly501=) c.1500G>A (p.Gly500=) c.1692G>A (p.Gly564=) c.1689G>A (p.Gly563=) | gnomAD v4 |
17 | g.61483378G>C | CA501143745 | TBX4 | c.1503G>C (p.Gly501=) c.1500G>C (p.Gly500=) c.1692G>C (p.Gly564=) c.1689G>C (p.Gly563=) | |
17 | g.61483378G>T | CA501143743 | TBX4 | c.1503G>T (p.Gly501=) c.1500G>T (p.Gly500=) c.1692G>T (p.Gly564=) c.1689G>T (p.Gly563=) | |
17 | g.61483379T>A | CA400476966 | TBX4 | c.1504T>A (p.Cys502Ser) c.1501T>A (p.Cys501Ser) c.1693T>A (p.Cys565Ser) c.1690T>A (p.Cys564Ser) | |
17 | g.61483379T>C | CA8690113 | TBX4 | c.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 |
17 | g.61483379T>G | CA400476968 | TBX4 | c.1504T>G (p.Cys502Gly) c.1501T>G (p.Cys501Gly) c.1693T>G (p.Cys565Gly) c.1690T>G (p.Cys564Gly) | |
17 | g.61483379T= | CA2269043663 | TBX4 | c.1504T= (p.Cys502=) c.1501T= (p.Cys501=) c.1693T= (p.Cys565=) c.1690T= (p.Cys564=) | |
17 | g.61483380G>A | CA400476970 | TBX4 | c.1505G>A (p.Cys502Tyr) c.1502G>A (p.Cys501Tyr) c.1694G>A (p.Cys565Tyr) c.1691G>A (p.Cys564Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.61483380G>C | CA400476972 | TBX4 | c.1505G>C (p.Cys502Ser) c.1502G>C (p.Cys501Ser) c.1694G>C (p.Cys565Ser) c.1691G>C (p.Cys564Ser) | |
17 | g.61483380G= | CA2269043664 | TBX4 | c.1505G= (p.Cys502=) c.1502G= (p.Cys501=) c.1694G= (p.Cys565=) c.1691G= (p.Cys564=) | |
17 | g.61483380G>T | CA400476973 | TBX4 | c.1505G>T (p.Cys502Phe) c.1502G>T (p.Cys501Phe) c.1694G>T (p.Cys565Phe) c.1691G>T (p.Cys564Phe) | |
17 | g.61483381T>A | CA400476975 | TBX4 | c.1506T>A (p.Cys502Ter) c.1503T>A (p.Cys501Ter) c.1695T>A (p.Cys565Ter) c.1692T>A (p.Cys564Ter) | |
17 | g.61483381T>C | CA501143759 | TBX4 | c.1506T>C (p.Cys502=) c.1503T>C (p.Cys501=) c.1695T>C (p.Cys565=) c.1692T>C (p.Cys564=) | |
17 | g.61483381T>G | CA400476977 | TBX4 | c.1506T>G (p.Cys502Trp) c.1503T>G (p.Cys501Trp) c.1695T>G (p.Cys565Trp) c.1692T>G (p.Cys564Trp) | |
17 | g.61483382G>A | CA400476978 | TBX4 | c.1507G>A (p.Glu503Lys) c.1504G>A (p.Glu502Lys) c.1696G>A (p.Glu566Lys) c.1693G>A (p.Glu565Lys) | |
17 | g.61483382G>C | CA400476980 | TBX4 | c.1507G>C (p.Glu503Gln) c.1504G>C (p.Glu502Gln) c.1696G>C (p.Glu566Gln) c.1693G>C (p.Glu565Gln) | |
17 | g.61483382G>T | CA400476981 | TBX4 | c.1507G>T (p.Glu503Ter) c.1504G>T (p.Glu502Ter) c.1696G>T (p.Glu566Ter) c.1693G>T (p.Glu565Ter) | |
17 | g.61483383A= | CA2269043665 | TBX4 | c.1508A= (p.Glu503=) c.1505A= (p.Glu502=) c.1697A= (p.Glu566=) c.1694A= (p.Glu565=) | |
17 | g.61483383A>C | CA400476986 | TBX4 | c.1508A>C (p.Glu503Ala) c.1505A>C (p.Glu502Ala) c.1697A>C (p.Glu566Ala) c.1694A>C (p.Glu565Ala) |