Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.12164394C>A | CA383946532 | BCL2L14,LRP6 | c.1931G>T (p.Arg644Leu) c.*25-22911C>A (n.*25-22911C>A) c.1525G>T c.1478G>T (p.Arg493Leu) n.2064G>T | |
12 | g.12164394C>G | CA383946533 | BCL2L14,LRP6 | c.1931G>C (p.Arg644Pro) c.*25-22911C>G (n.*25-22911C>G) c.1525G>C c.1478G>C (p.Arg493Pro) n.2064G>C | |
12 | g.12164394C>T | CA383946531 | BCL2L14,LRP6 | c.1931G>A (p.Arg644Gln) c.*25-22911C>T (n.*25-22911C>T) c.1525G>A c.1478G>A (p.Arg493Gln) n.2064G>A | gnomAD v4 COSMIC |
12 | g.12164395G>A | CA383946535 | BCL2L14,LRP6 | c.1930C>T (p.Arg644Ter) c.*25-22910G>A (n.*25-22910G>A) c.1524C>T c.1477C>T (p.Arg493Ter) n.2063C>T | ClinVar gnomAD v4 COSMIC |
12 | g.12164395G>C | CA383946536 | BCL2L14,LRP6 | c.1930C>G (p.Arg644Gly) c.*25-22910G>C (n.*25-22910G>C) c.1524C>G c.1477C>G (p.Arg493Gly) n.2063C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.12164395G= | CA2016783048 | BCL2L14,LRP6 | c.1930C= (p.Arg644=) c.*25-22910G= (n.*25-22910G=) c.1524C= c.1477C= (p.Arg493=) n.2063C= | |
12 | g.12164395G>T | CA478660573 | BCL2L14,LRP6 | c.1930C>A (p.Arg644=) c.*25-22910G>T (n.*25-22910G>T) c.1524C>A c.1477C>A (p.Arg493=) n.2063C>A | |
12 | g.12164396T>A | CA383946537 | BCL2L14,LRP6 | c.1929A>T (p.Arg643Ser) c.*25-22909T>A (n.*25-22909T>A) c.1523A>T c.1476A>T (p.Arg492Ser) n.2062A>T | dbSNP |
12 | g.12164396T>C | CA478660574 | BCL2L14,LRP6 | c.1929A>G (p.Arg643=) c.*25-22909T>C (n.*25-22909T>C) c.1523A>G c.1476A>G (p.Arg492=) n.2062A>G | gnomAD v3 gnomAD v4 |
12 | g.12164396T>G | CA383946538 | BCL2L14,LRP6 | c.1929A>C (p.Arg643Ser) c.*25-22909T>G (n.*25-22909T>G) c.1523A>C c.1476A>C (p.Arg492Ser) n.2062A>C | |
12 | g.12164396T= | CA2016783049 | BCL2L14,LRP6 | c.1929A= (p.Arg643=) c.*25-22909T= (n.*25-22909T=) c.1523A= c.1476A= (p.Arg492=) n.2062A= | |
12 | g.12164397C>A | CA383946539 | BCL2L14,LRP6 | c.1928G>T (p.Arg643Ile) c.*25-22908C>A (n.*25-22908C>A) c.1522G>T c.1475G>T (p.Arg492Ile) n.2061G>T | |
12 | g.12164397C>G | CA383946540 | BCL2L14,LRP6 | c.1928G>C (p.Arg643Thr) c.*25-22908C>G (n.*25-22908C>G) c.1522G>C c.1475G>C (p.Arg492Thr) n.2061G>C | |
12 | g.12164397C>T | CA383946541 | BCL2L14,LRP6 | c.1928G>A (p.Arg643Lys) c.*25-22908C>T (n.*25-22908C>T) c.1522G>A c.1475G>A (p.Arg492Lys) n.2061G>A | |
12 | g.12164398T>A | CA383946542 | BCL2L14,LRP6 | c.1927A>T (p.Arg643Ter) c.*25-22907T>A (n.*25-22907T>A) c.1521A>T c.1474A>T (p.Arg492Ter) n.2060A>T | |
12 | g.12164398T>C | CA383946543 | BCL2L14,LRP6 | c.1927A>G (p.Arg643Gly) c.*25-22907T>C (n.*25-22907T>C) c.1521A>G c.1474A>G (p.Arg492Gly) n.2060A>G | |
12 | g.12164398T>G | CA478660575 | BCL2L14,LRP6 | c.1927A>C (p.Arg643=) c.*25-22907T>G (n.*25-22907T>G) c.1521A>C c.1474A>C (p.Arg492=) n.2060A>C | |
12 | g.12164398dup | CA2580615134 | BCL2L14,LRP6 | c.1927dup (p.Arg643LysfsTer10) c.*25-22907dup (n.*25-22907dup) c.1521dup c.1474dup (p.Arg492LysfsTer10) n.2060dup | ClinVar |
12 | g.12164399G>A | CA478660577 | BCL2L14,LRP6 | c.1926C>T (p.Ile642=) c.*25-22906G>A (n.*25-22906G>A) c.1520C>T c.1473C>T (p.Ile491=) n.2059C>T | |
12 | g.12164399G>C | CA383946544 | BCL2L14,LRP6 | c.1926C>G (p.Ile642Met) c.*25-22906G>C (n.*25-22906G>C) c.1520C>G c.1473C>G (p.Ile491Met) n.2059C>G | |
12 | g.12164399G>T | CA478660576 | BCL2L14,LRP6 | c.1926C>A (p.Ile642=) c.*25-22906G>T (n.*25-22906G>T) c.1520C>A c.1473C>A (p.Ile491=) n.2059C>A | |
12 | g.12164400A>C | CA383946545 | BCL2L14,LRP6 | c.1925T>G (p.Ile642Ser) c.*25-22905A>C (n.*25-22905A>C) c.1519T>G c.1472T>G (p.Ile491Ser) n.2058T>G | |
12 | g.12164400A>G | CA383946546 | BCL2L14,LRP6 | c.1925T>C (p.Ile642Thr) c.*25-22905A>G (n.*25-22905A>G) c.1519T>C c.1472T>C (p.Ile491Thr) n.2058T>C | |
12 | g.12164400A>T | CA383946547 | BCL2L14,LRP6 | c.1925T>A (p.Ile642Asn) c.*25-22905A>T (n.*25-22905A>T) c.1519T>A c.1472T>A (p.Ile491Asn) n.2058T>A | |
12 | g.12164401T>A | CA383946549 | BCL2L14,LRP6 | c.1924A>T (p.Ile642Phe) c.*25-22904T>A (n.*25-22904T>A) c.1518A>T c.1471A>T (p.Ile491Phe) n.2057A>T | |
12 | g.12164401T>C | CA232993127 | BCL2L14,LRP6 | c.1924A>G (p.Ile642Val) c.*25-22904T>C (n.*25-22904T>C) c.1518A>G c.1471A>G (p.Ile491Val) n.2057A>G | dbSNP gnomAD v4 |
12 | g.12164401T>G | CA383946548 | BCL2L14,LRP6 | c.1924A>C (p.Ile642Leu) c.*25-22904T>G (n.*25-22904T>G) c.1518A>C c.1471A>C (p.Ile491Leu) n.2057A>C | |
12 | g.12164401T= | CA2016783050 | BCL2L14,LRP6 | c.1924A= (p.Ile642=) c.*25-22904T= (n.*25-22904T=) c.1518A= c.1471A= (p.Ile491=) n.2057A= | |
12 | g.12164401dup | CA2695216095 | BCL2L14,LRP6 | c.1924dup (p.Ile642AsnfsTer11) c.*25-22904dup (n.*25-22904dup) c.1518dup c.1471dup (p.Ile491AsnfsTer11) n.2057dup | |
12 | g.12164402A= | CA2016783051 | BCL2L14,LRP6 | c.1923T= (p.Asp641=) c.*25-22903A= (n.*25-22903A=) c.1517T= c.1470T= (p.Asp490=) n.2056T= | |
12 | g.12164402A>C | CA383946550 | BCL2L14,LRP6 | c.1923T>G (p.Asp641Glu) c.*25-22903A>C (n.*25-22903A>C) c.1517T>G c.1470T>G (p.Asp490Glu) n.2056T>G | |
12 | g.12164402A>G | CA478660578 | BCL2L14,LRP6 | c.1923T>C (p.Asp641=) c.*25-22903A>G (n.*25-22903A>G) c.1517T>C c.1470T>C (p.Asp490=) n.2056T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.12164402A>T | CA383946551 | BCL2L14,LRP6 | c.1923T>A (p.Asp641Glu) c.*25-22903A>T (n.*25-22903A>T) c.1517T>A c.1470T>A (p.Asp490Glu) n.2056T>A | |
12 | g.12164403T>A | CA6455564 | BCL2L14,LRP6 | c.1922A>T (p.Asp641Val) c.*25-22902T>A (n.*25-22902T>A) c.1516A>T c.1469A>T (p.Asp490Val) n.2055A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.12164403T>C | CA383946552 | BCL2L14,LRP6 | c.1922A>G (p.Asp641Gly) c.*25-22902T>C (n.*25-22902T>C) c.1516A>G c.1469A>G (p.Asp490Gly) n.2055A>G | gnomAD v4 |
12 | g.12164403T>G | CA383946553 | BCL2L14,LRP6 | c.1922A>C (p.Asp641Ala) c.*25-22902T>G (n.*25-22902T>G) c.1516A>C c.1469A>C (p.Asp490Ala) n.2055A>C | |
12 | g.12164403T= | CA2016783052 | BCL2L14,LRP6 | c.1922A= (p.Asp641=) c.*25-22902T= (n.*25-22902T=) c.1516A= c.1469A= (p.Asp490=) n.2055A= | |
12 | g.12164404C>A | CA383946554 | BCL2L14,LRP6 | c.1921G>T (p.Asp641Tyr) c.*25-22901C>A (n.*25-22901C>A) c.1515G>T c.1468G>T (p.Asp490Tyr) n.2054G>T | |
12 | g.12164404C>G | CA383946555 | BCL2L14,LRP6 | c.1921G>C (p.Asp641His) c.*25-22901C>G (n.*25-22901C>G) c.1515G>C c.1468G>C (p.Asp490His) n.2054G>C | |
12 | g.12164404C>T | CA383946556 | BCL2L14,LRP6 | c.1921G>A (p.Asp641Asn) c.*25-22901C>T (n.*25-22901C>T) c.1515G>A c.1468G>A (p.Asp490Asn) n.2054G>A | |
12 | g.12164405T>A | CA478660580 | BCL2L14,LRP6 | c.1920A>T (p.Ala640=) c.*25-22900T>A (n.*25-22900T>A) c.1514A>T c.1467A>T (p.Ala489=) n.2053A>T | |
12 | g.12164405T>C | CA478660579 | BCL2L14,LRP6 | c.1920A>G (p.Ala640=) c.*25-22900T>C (n.*25-22900T>C) c.1514A>G c.1467A>G (p.Ala489=) n.2053A>G | |
12 | g.12164405T>G | CA478660581 | BCL2L14,LRP6 | c.1920A>C (p.Ala640=) c.*25-22900T>G (n.*25-22900T>G) c.1514A>C c.1467A>C (p.Ala489=) n.2053A>C | |
12 | g.12164406G>A | CA383946557 | BCL2L14,LRP6 | c.1919C>T (p.Ala640Val) c.*25-22899G>A (n.*25-22899G>A) c.1513C>T c.1466C>T (p.Ala489Val) n.2052C>T | |
12 | g.12164406G>C | CA383946558 | BCL2L14,LRP6 | c.1919C>G (p.Ala640Gly) c.*25-22899G>C (n.*25-22899G>C) c.1513C>G c.1466C>G (p.Ala489Gly) n.2052C>G | |
12 | g.12164406G>T | CA383946559 | BCL2L14,LRP6 | c.1919C>A (p.Ala640Glu) c.*25-22899G>T (n.*25-22899G>T) c.1513C>A c.1466C>A (p.Ala489Glu) n.2052C>A | |
12 | g.12164407C>A | CA383946560 | BCL2L14,LRP6 | c.1918G>T (p.Ala640Ser) c.*25-22898C>A (n.*25-22898C>A) c.1512G>T c.1465G>T (p.Ala489Ser) n.2051G>T | |
12 | g.12164407C= | CA2016783053 | BCL2L14,LRP6 | c.1918G= (p.Ala640=) c.*25-22898C= (n.*25-22898C=) c.1512G= c.1465G= (p.Ala489=) n.2051G= | |
12 | g.12164407C>G | CA383946561 | BCL2L14,LRP6 | c.1918G>C (p.Ala640Pro) c.*25-22898C>G (n.*25-22898C>G) c.1512G>C c.1465G>C (p.Ala489Pro) n.2051G>C | |
12 | g.12164407C>T | CA383946562 | BCL2L14,LRP6 | c.1918G>A (p.Ala640Thr) c.*25-22898C>T (n.*25-22898C>T) c.1512G>A c.1465G>A (p.Ala489Thr) n.2051G>A | dbSNP gnomAD v4 |