| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113400006A= | CA2001153409 | ANKK1 | c.2037A= (p.Leu679=) c.2070A= (p.Leu690=) c.2040A= (p.Leu680=) c.1848A= (p.Leu616=) c.2067A= (p.Leu689=) | |
| 11 | g.113400006A>C | CA477043009 | ANKK1 | c.2037A>C (p.Leu679=) c.2070A>C (p.Leu690=) c.2040A>C (p.Leu680=) c.1848A>C (p.Leu616=) c.2067A>C (p.Leu689=) | |
| 11 | g.113400006A>G | CA6281067 | ANKK1 | c.2037A>G (p.Leu679=) c.2070A>G (p.Leu690=) c.2040A>G (p.Leu680=) c.1848A>G (p.Leu616=) c.2067A>G (p.Leu689=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400006A>T | CA477043010 | ANKK1 | c.2037A>T (p.Leu679=) c.2070A>T (p.Leu690=) c.2040A>T (p.Leu680=) c.1848A>T (p.Leu616=) c.2067A>T (p.Leu689=) | COSMIC |
| 11 | g.113400007G>A | CA228616070 | ANKK1 | c.2038G>A (p.Glu680Lys) c.2071G>A (p.Glu691Lys) c.2041G>A (p.Glu681Lys) c.1849G>A (p.Glu617Lys) c.2068G>A (p.Glu690Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400007G>C | CA382647108 | ANKK1 | c.2038G>C (p.Glu680Gln) c.2071G>C (p.Glu691Gln) c.2041G>C (p.Glu681Gln) c.1849G>C (p.Glu617Gln) c.2068G>C (p.Glu690Gln) | |
| 11 | g.113400007G= | CA2001153412 | ANKK1 | c.2038G= (p.Glu680=) c.2071G= (p.Glu691=) c.2041G= (p.Glu681=) c.1849G= (p.Glu617=) c.2068G= (p.Glu690=) | |
| 11 | g.113400007G>T | CA382647109 | ANKK1 | c.2038G>T (p.Glu680Ter) c.2071G>T (p.Glu691Ter) c.2041G>T (p.Glu681Ter) c.1849G>T (p.Glu617Ter) c.2068G>T (p.Glu690Ter) | |
| 11 | g.113400008A= | CA2001153416 | ANKK1 | c.2039A= (p.Glu680=) c.2072A= (p.Glu691=) c.2042A= (p.Glu681=) c.1850A= (p.Glu617=) c.2069A= (p.Glu690=) | |
| 11 | g.113400008A>C | CA382647113 | ANKK1 | c.2039A>C (p.Glu680Ala) c.2072A>C (p.Glu691Ala) c.2042A>C (p.Glu681Ala) c.1850A>C (p.Glu617Ala) c.2069A>C (p.Glu690Ala) | dbSNP gnomAD v4 |
| 11 | g.113400008A>G | CA382647114 | ANKK1 | c.2039A>G (p.Glu680Gly) c.2072A>G (p.Glu691Gly) c.2042A>G (p.Glu681Gly) c.1850A>G (p.Glu617Gly) c.2069A>G (p.Glu690Gly) | |
| 11 | g.113400008A>T | CA382647111 | ANKK1 | c.2039A>T (p.Glu680Val) c.2072A>T (p.Glu691Val) c.2042A>T (p.Glu681Val) c.1850A>T (p.Glu617Val) c.2069A>T (p.Glu690Val) | |
| 11 | g.113400009A= | CA2001153423 | ANKK1 | c.2040A= (p.Glu680=) c.2073A= (p.Glu691=) c.2043A= (p.Glu681=) c.1851A= (p.Glu617=) c.2070A= (p.Glu690=) | |
| 11 | g.113400009A>C | CA382647117 | ANKK1 | c.2040A>C (p.Glu680Asp) c.2073A>C (p.Glu691Asp) c.2043A>C (p.Glu681Asp) c.1851A>C (p.Glu617Asp) c.2070A>C (p.Glu690Asp) | |
| 11 | g.113400009A>G | CA477043011 | ANKK1 | c.2040A>G (p.Glu680=) c.2073A>G (p.Glu691=) c.2043A>G (p.Glu681=) c.1851A>G (p.Glu617=) c.2070A>G (p.Glu690=) | |
| 11 | g.113400009A>T | CA228616090 | ANKK1 | c.2040A>T (p.Glu680Asp) c.2073A>T (p.Glu691Asp) c.2043A>T (p.Glu681Asp) c.1851A>T (p.Glu617Asp) c.2070A>T (p.Glu690Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113400010C>A | CA382647123 | ANKK1 | c.2041C>A (p.His681Asn) c.2074C>A (p.His692Asn) c.2044C>A (p.His682Asn) c.1852C>A (p.His618Asn) c.2071C>A (p.His691Asn) | |
| 11 | g.113400010C>G | CA382647120 | ANKK1 | c.2041C>G (p.His681Asp) c.2074C>G (p.His692Asp) c.2044C>G (p.His682Asp) c.1852C>G (p.His618Asp) c.2071C>G (p.His691Asp) | |
| 11 | g.113400010C>T | CA382647121 | ANKK1 | c.2041C>T (p.His681Tyr) c.2074C>T (p.His692Tyr) c.2044C>T (p.His682Tyr) c.1852C>T (p.His618Tyr) c.2071C>T (p.His691Tyr) | gnomAD v4 |
| 11 | g.113400011A>C | CA382647124 | ANKK1 | c.2042A>C (p.His681Pro) c.2075A>C (p.His692Pro) c.2045A>C (p.His682Pro) c.1853A>C (p.His618Pro) c.2072A>C (p.His691Pro) | |
| 11 | g.113400011A>G | CA382647126 | ANKK1 | c.2042A>G (p.His681Arg) c.2075A>G (p.His692Arg) c.2045A>G (p.His682Arg) c.1853A>G (p.His618Arg) c.2072A>G (p.His691Arg) | |
| 11 | g.113400011A>T | CA382647127 | ANKK1 | c.2042A>T (p.His681Leu) c.2075A>T (p.His692Leu) c.2045A>T (p.His682Leu) c.1853A>T (p.His618Leu) c.2072A>T (p.His691Leu) | |
| 11 | g.113400012T>A | CA382647129 | ANKK1 | c.2043T>A (p.His681Gln) c.2076T>A (p.His692Gln) c.2046T>A (p.His682Gln) c.1854T>A (p.His618Gln) c.2073T>A (p.His691Gln) | |
| 11 | g.113400012T>C | CA477043012 | ANKK1 | c.2043T>C (p.His681=) c.2076T>C (p.His692=) c.2046T>C (p.His682=) c.1854T>C (p.His618=) c.2073T>C (p.His691=) | |
| 11 | g.113400012T>G | CA382647131 | ANKK1 | c.2043T>G (p.His681Gln) c.2076T>G (p.His692Gln) c.2046T>G (p.His682Gln) c.1854T>G (p.His618Gln) c.2073T>G (p.His691Gln) | ClinVar gnomAD v4 |
| 11 | g.113400013C>A | CA382647133 | ANKK1 | c.2044C>A (p.His682Asn) c.2077C>A (p.His693Asn) c.2047C>A (p.His683Asn) c.1855C>A (p.His619Asn) c.2074C>A (p.His692Asn) | |
| 11 | g.113400013C>G | CA382647135 | ANKK1 | c.2044C>G (p.His682Asp) c.2077C>G (p.His693Asp) c.2047C>G (p.His683Asp) c.1855C>G (p.His619Asp) c.2074C>G (p.His692Asp) | |
| 11 | g.113400013C>T | CA382647136 | ANKK1 | c.2044C>T (p.His682Tyr) c.2077C>T (p.His693Tyr) c.2047C>T (p.His683Tyr) c.1855C>T (p.His619Tyr) c.2074C>T (p.His692Tyr) | COSMIC |
| 11 | g.113400014A>C | CA382647139 | ANKK1 | c.2045A>C (p.His682Pro) c.2078A>C (p.His693Pro) c.2048A>C (p.His683Pro) c.1856A>C (p.His619Pro) c.2075A>C (p.His692Pro) | |
| 11 | g.113400014A>G | CA382647141 | ANKK1 | c.2045A>G (p.His682Arg) c.2078A>G (p.His693Arg) c.2048A>G (p.His683Arg) c.1856A>G (p.His619Arg) c.2075A>G (p.His692Arg) | |
| 11 | g.113400014A>T | CA382647142 | ANKK1 | c.2045A>T (p.His682Leu) c.2078A>T (p.His693Leu) c.2048A>T (p.His683Leu) c.1856A>T (p.His619Leu) c.2075A>T (p.His692Leu) | |
| 11 | g.113400015C>A | CA382647144 | ANKK1 | c.2046C>A (p.His682Gln) c.2079C>A (p.His693Gln) c.2049C>A (p.His683Gln) c.1857C>A (p.His619Gln) c.2076C>A (p.His692Gln) | gnomAD v4 |
| 11 | g.113400015C= | CA2001153426 | ANKK1 | c.2046C= (p.His682=) c.2079C= (p.His693=) c.2049C= (p.His683=) c.1857C= (p.His619=) c.2076C= (p.His692=) | |
| 11 | g.113400015C>G | CA382647143 | ANKK1 | c.2046C>G (p.His682Gln) c.2079C>G (p.His693Gln) c.2049C>G (p.His683Gln) c.1857C>G (p.His619Gln) c.2076C>G (p.His692Gln) | dbSNP gnomAD v4 |
| 11 | g.113400015C>T | CA6281068 | ANKK1 | c.2046C>T (p.His682=) c.2079C>T (p.His693=) c.2049C>T (p.His683=) c.1857C>T (p.His619=) c.2076C>T (p.His692=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400020_113400035del | CA2574982166 | ANKK1 | c.2051_2066del (p.Asn684ThrfsTer?) c.2084_2099del (p.Asn695ThrfsTer?) c.2054_2069del (p.Asn685ThrfsTer?) c.1862_1877del (p.Asn621ThrfsTer?) c.2081_2096del (p.Asn694ThrfsTer?) | |
| 11 | g.113400016G>A | CA6281069 | ANKK1 | c.2047G>A (p.Ala683Thr) c.2080G>A (p.Ala694Thr) c.2050G>A (p.Ala684Thr) c.1858G>A (p.Ala620Thr) c.2077G>A (p.Ala693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.113400016G>C | CA6281070 | ANKK1 | c.2047G>C (p.Ala683Pro) c.2080G>C (p.Ala694Pro) c.2050G>C (p.Ala684Pro) c.1858G>C (p.Ala620Pro) c.2077G>C (p.Ala693Pro) | dbSNP ExAC gnomAD v4 |
| 11 | g.113400016G= | CA2001153435 | ANKK1 | c.2047G= (p.Ala683=) c.2080G= (p.Ala694=) c.2050G= (p.Ala684=) c.1858G= (p.Ala620=) c.2077G= (p.Ala693=) | |
| 11 | g.113400016G>T | CA382647146 | ANKK1 | c.2047G>T (p.Ala683Ser) c.2080G>T (p.Ala694Ser) c.2050G>T (p.Ala684Ser) c.1858G>T (p.Ala620Ser) c.2077G>T (p.Ala693Ser) | |
| 11 | g.113400017C>A | CA382647149 | ANKK1 | c.2048C>A (p.Ala683Glu) c.2081C>A (p.Ala694Glu) c.2051C>A (p.Ala684Glu) c.1859C>A (p.Ala620Glu) c.2078C>A (p.Ala693Glu) | |
| 11 | g.113400017C= | CA2001153439 | ANKK1 | c.2048C= (p.Ala683=) c.2081C= (p.Ala694=) c.2051C= (p.Ala684=) c.1859C= (p.Ala620=) c.2078C= (p.Ala693=) | |
| 11 | g.113400017C>G | CA382647150 | ANKK1 | c.2048C>G (p.Ala683Gly) c.2081C>G (p.Ala694Gly) c.2051C>G (p.Ala684Gly) c.1859C>G (p.Ala620Gly) c.2078C>G (p.Ala693Gly) | |
| 11 | g.113400017C>T | CA382647152 | ANKK1 | c.2048C>T (p.Ala683Val) c.2081C>T (p.Ala694Val) c.2051C>T (p.Ala684Val) c.1859C>T (p.Ala620Val) c.2078C>T (p.Ala693Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400018A>C | CA477043013 | ANKK1 | c.2049A>C (p.Ala683=) c.2082A>C (p.Ala694=) c.2052A>C (p.Ala684=) c.1860A>C (p.Ala620=) c.2079A>C (p.Ala693=) | |
| 11 | g.113400018A>G | CA477043014 | ANKK1 | c.2049A>G (p.Ala683=) c.2082A>G (p.Ala694=) c.2052A>G (p.Ala684=) c.1860A>G (p.Ala620=) c.2079A>G (p.Ala693=) | |
| 11 | g.113400018A>T | CA477043015 | ANKK1 | c.2049A>T (p.Ala683=) c.2082A>T (p.Ala694=) c.2052A>T (p.Ala684=) c.1860A>T (p.Ala620=) c.2079A>T (p.Ala693=) | |
| 11 | g.113400019A= | CA2001153441 | ANKK1 | c.2050A= (p.Asn684=) c.2083A= (p.Asn695=) c.2053A= (p.Asn685=) c.1861A= (p.Asn621=) c.2080A= (p.Asn694=) | |
| 11 | g.113400019A>C | CA6281071 | ANKK1 | c.2050A>C (p.Asn684His) c.2083A>C (p.Asn695His) c.2053A>C (p.Asn685His) c.1861A>C (p.Asn621His) c.2080A>C (p.Asn694His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113400019A>G | CA382647155 | ANKK1 | c.2050A>G (p.Asn684Asp) c.2083A>G (p.Asn695Asp) c.2053A>G (p.Asn685Asp) c.1861A>G (p.Asn621Asp) c.2080A>G (p.Asn694Asp) | gnomAD v4 |