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 |
|---|---|---|---|---|---|
| 3 | g.113327704T>A | CA353777690 | CFAP44 | c.4232A>T (p.Glu1411Val) c.94A>T c.1641A>T c.1937A>T (p.Glu646Val) c.4364A>T (p.Glu1455Val) c.4211A>T (p.Glu1404Val) c.3992A>T (p.Glu1331Val) c.3683A>T (p.Glu1228Val) c.3332A>T (p.Glu1111Val) n.4889A>T | |
| 3 | g.113327704T>C | CA353777692 | CFAP44 | c.4232A>G (p.Glu1411Gly) c.94A>G c.1641A>G c.1937A>G (p.Glu646Gly) c.4364A>G (p.Glu1455Gly) c.4211A>G (p.Glu1404Gly) c.3992A>G (p.Glu1331Gly) c.3683A>G (p.Glu1228Gly) c.3332A>G (p.Glu1111Gly) n.4889A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327704T>G | CA353777691 | CFAP44 | c.4232A>C (p.Glu1411Ala) c.94A>C c.1641A>C c.1937A>C (p.Glu646Ala) c.4364A>C (p.Glu1455Ala) c.4211A>C (p.Glu1404Ala) c.3992A>C (p.Glu1331Ala) c.3683A>C (p.Glu1228Ala) c.3332A>C (p.Glu1111Ala) n.4889A>C | |
| 3 | g.113327704T= | CA1394216479 | CFAP44 | c.4232A= (p.Glu1411=) c.94A= c.1641A= c.1937A= (p.Glu646=) c.4364A= (p.Glu1455=) c.4211A= (p.Glu1404=) c.3992A= (p.Glu1331=) c.3683A= (p.Glu1228=) c.3332A= (p.Glu1111=) n.4889A= | |
| 3 | g.113327705C>A | CA81542475 | CFAP44 | c.4231G>T (p.Glu1411Ter) c.93G>T c.1640G>T c.1936G>T (p.Glu646Ter) c.4363G>T (p.Glu1455Ter) c.4210G>T (p.Glu1404Ter) c.3991G>T (p.Glu1331Ter) c.3682G>T (p.Glu1228Ter) c.3331G>T (p.Glu1111Ter) n.4888G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327705C= | CA1394216486 | CFAP44 | c.4231G= (p.Glu1411=) c.93G= c.1640G= c.1936G= (p.Glu646=) c.4363G= (p.Glu1455=) c.4210G= (p.Glu1404=) c.3991G= (p.Glu1331=) c.3682G= (p.Glu1228=) c.3331G= (p.Glu1111=) n.4888G= | |
| 3 | g.113327705C>G | CA353777693 | CFAP44 | c.4231G>C (p.Glu1411Gln) c.93G>C c.1640G>C c.1936G>C (p.Glu646Gln) c.4363G>C (p.Glu1455Gln) c.4210G>C (p.Glu1404Gln) c.3991G>C (p.Glu1331Gln) c.3682G>C (p.Glu1228Gln) c.3331G>C (p.Glu1111Gln) n.4888G>C | |
| 3 | g.113327705C>T | CA353777694 | CFAP44 | c.4231G>A (p.Glu1411Lys) c.93G>A c.1640G>A c.1936G>A (p.Glu646Lys) c.4363G>A (p.Glu1455Lys) c.4210G>A (p.Glu1404Lys) c.3991G>A (p.Glu1331Lys) c.3682G>A (p.Glu1228Lys) c.3331G>A (p.Glu1111Lys) n.4888G>A | |
| 3 | g.113327706T>A | CA353777695 | CFAP44 | c.4230A>T (p.Gln1410His) c.92A>T c.1639A>T c.1935A>T (p.Gln645His) c.4362A>T (p.Gln1454His) c.4209A>T (p.Gln1403His) c.3990A>T (p.Gln1330His) c.3681A>T (p.Gln1227His) c.3330A>T (p.Gln1110His) n.4887A>T | |
| 3 | g.113327706T>C | CA434930834 | CFAP44 | c.4230A>G (p.Gln1410=) c.92A>G c.1639A>G c.1935A>G (p.Gln645=) c.4362A>G (p.Gln1454=) c.4209A>G (p.Gln1403=) c.3990A>G (p.Gln1330=) c.3681A>G (p.Gln1227=) c.3330A>G (p.Gln1110=) n.4887A>G | |
| 3 | g.113327706T>G | CA353777696 | CFAP44 | c.4230A>C (p.Gln1410His) c.92A>C c.1639A>C c.1935A>C (p.Gln645His) c.4362A>C (p.Gln1454His) c.4209A>C (p.Gln1403His) c.3990A>C (p.Gln1330His) c.3681A>C (p.Gln1227His) c.3330A>C (p.Gln1110His) n.4887A>C | |
| 3 | g.113327707T>A | CA353777697 | CFAP44 | c.4229A>T (p.Gln1410Leu) c.91A>T c.1638A>T c.1934A>T (p.Gln645Leu) c.4361A>T (p.Gln1454Leu) c.4208A>T (p.Gln1403Leu) c.3989A>T (p.Gln1330Leu) c.3680A>T (p.Gln1227Leu) c.3329A>T (p.Gln1110Leu) n.4886A>T | |
| 3 | g.113327707T>C | CA353777698 | CFAP44 | c.4229A>G (p.Gln1410Arg) c.91A>G c.1638A>G c.1934A>G (p.Gln645Arg) c.4361A>G (p.Gln1454Arg) c.4208A>G (p.Gln1403Arg) c.3989A>G (p.Gln1330Arg) c.3680A>G (p.Gln1227Arg) c.3329A>G (p.Gln1110Arg) n.4886A>G | gnomAD v4 |
| 3 | g.113327707T>G | CA353777699 | CFAP44 | c.4229A>C (p.Gln1410Pro) c.91A>C c.1638A>C c.1934A>C (p.Gln645Pro) c.4361A>C (p.Gln1454Pro) c.4208A>C (p.Gln1403Pro) c.3989A>C (p.Gln1330Pro) c.3680A>C (p.Gln1227Pro) c.3329A>C (p.Gln1110Pro) n.4886A>C | |
| 3 | g.113327708G>A | CA353777700 | CFAP44 | c.4228C>T (p.Gln1410Ter) c.90C>T c.1637C>T c.1933C>T (p.Gln645Ter) c.4360C>T (p.Gln1454Ter) c.4207C>T (p.Gln1403Ter) c.3988C>T (p.Gln1330Ter) c.3679C>T (p.Gln1227Ter) c.3328C>T (p.Gln1110Ter) n.4885C>T | |
| 3 | g.113327708G>C | CA353777701 | CFAP44 | c.4228C>G (p.Gln1410Glu) c.90C>G c.1637C>G c.1933C>G (p.Gln645Glu) c.4360C>G (p.Gln1454Glu) c.4207C>G (p.Gln1403Glu) c.3988C>G (p.Gln1330Glu) c.3679C>G (p.Gln1227Glu) c.3328C>G (p.Gln1110Glu) n.4885C>G | |
| 3 | g.113327708G>T | CA353777702 | CFAP44 | c.4228C>A (p.Gln1410Lys) c.90C>A c.1637C>A c.1933C>A (p.Gln645Lys) c.4360C>A (p.Gln1454Lys) c.4207C>A (p.Gln1403Lys) c.3988C>A (p.Gln1330Lys) c.3679C>A (p.Gln1227Lys) c.3328C>A (p.Gln1110Lys) n.4885C>A | gnomAD v4 |
| 3 | g.113327709A>C | CA353777704 | CFAP44 | c.4227T>G (p.Phe1409Leu) c.89T>G c.1636T>G c.1932T>G (p.Phe644Leu) c.4359T>G (p.Phe1453Leu) c.4206T>G (p.Phe1402Leu) c.3987T>G (p.Phe1329Leu) c.3678T>G (p.Phe1226Leu) c.3327T>G (p.Phe1109Leu) n.4884T>G | |
| 3 | g.113327709A>G | CA434930841 | CFAP44 | c.4227T>C (p.Phe1409=) c.89T>C c.1636T>C c.1932T>C (p.Phe644=) c.4359T>C (p.Phe1453=) c.4206T>C (p.Phe1402=) c.3987T>C (p.Phe1329=) c.3678T>C (p.Phe1226=) c.3327T>C (p.Phe1109=) n.4884T>C | |
| 3 | g.113327709A>T | CA353777703 | CFAP44 | c.4227T>A (p.Phe1409Leu) c.89T>A c.1636T>A c.1932T>A (p.Phe644Leu) c.4359T>A (p.Phe1453Leu) c.4206T>A (p.Phe1402Leu) c.3987T>A (p.Phe1329Leu) c.3678T>A (p.Phe1226Leu) c.3327T>A (p.Phe1109Leu) n.4884T>A | |
| 3 | g.113327711del | CA2667000119 | CFAP44 | c.4227del (p.Gln1410LysfsTer6) c.89del c.1636del c.1932del (p.Gln645LysfsTer6) c.4359del (p.Gln1454LysfsTer6) c.4206del (p.Gln1403LysfsTer6) c.3987del (p.Gln1330LysfsTer6) c.3678del (p.Gln1227LysfsTer6) c.3327del (p.Gln1110LysfsTer6) n.4884del | gnomAD v4 |
| 3 | g.113327710A>C | CA353777705 | CFAP44 | c.4226T>G (p.Phe1409Cys) c.88T>G c.1635T>G c.1931T>G (p.Phe644Cys) c.4358T>G (p.Phe1453Cys) c.4205T>G (p.Phe1402Cys) c.3986T>G (p.Phe1329Cys) c.3677T>G (p.Phe1226Cys) c.3326T>G (p.Phe1109Cys) n.4883T>G | |
| 3 | g.113327710A>G | CA353777706 | CFAP44 | c.4226T>C (p.Phe1409Ser) c.88T>C c.1635T>C c.1931T>C (p.Phe644Ser) c.4358T>C (p.Phe1453Ser) c.4205T>C (p.Phe1402Ser) c.3986T>C (p.Phe1329Ser) c.3677T>C (p.Phe1226Ser) c.3326T>C (p.Phe1109Ser) n.4883T>C | |
| 3 | g.113327710A>T | CA353777707 | CFAP44 | c.4226T>A (p.Phe1409Tyr) c.88T>A c.1635T>A c.1931T>A (p.Phe644Tyr) c.4358T>A (p.Phe1453Tyr) c.4205T>A (p.Phe1402Tyr) c.3986T>A (p.Phe1329Tyr) c.3677T>A (p.Phe1226Tyr) c.3326T>A (p.Phe1109Tyr) n.4883T>A | |
| 3 | g.113327711A>C | CA353777708 | CFAP44 | c.4225T>G (p.Phe1409Val) c.87T>G c.1634T>G c.1930T>G (p.Phe644Val) c.4357T>G (p.Phe1453Val) c.4204T>G (p.Phe1402Val) c.3985T>G (p.Phe1329Val) c.3676T>G (p.Phe1226Val) c.3325T>G (p.Phe1109Val) n.4882T>G | gnomAD v4 |
| 3 | g.113327711A>G | CA353777709 | CFAP44 | c.4225T>C (p.Phe1409Leu) c.87T>C c.1634T>C c.1930T>C (p.Phe644Leu) c.4357T>C (p.Phe1453Leu) c.4204T>C (p.Phe1402Leu) c.3985T>C (p.Phe1329Leu) c.3676T>C (p.Phe1226Leu) c.3325T>C (p.Phe1109Leu) n.4882T>C | gnomAD v4 |
| 3 | g.113327711A>T | CA353777710 | CFAP44 | c.4225T>A (p.Phe1409Ile) c.87T>A c.1634T>A c.1930T>A (p.Phe644Ile) c.4357T>A (p.Phe1453Ile) c.4204T>A (p.Phe1402Ile) c.3985T>A (p.Phe1329Ile) c.3676T>A (p.Phe1226Ile) c.3325T>A (p.Phe1109Ile) n.4882T>A | |
| 3 | g.113327712T>A | CA353777711 | CFAP44 | c.4224A>T (p.Leu1408Phe) c.86A>T c.1633A>T c.1929A>T (p.Leu643Phe) c.4356A>T (p.Leu1452Phe) c.4203A>T (p.Leu1401Phe) c.3984A>T (p.Leu1328Phe) c.3675A>T (p.Leu1225Phe) c.3324A>T (p.Leu1108Phe) n.4881A>T | |
| 3 | g.113327712T>C | CA434930850 | CFAP44 | c.4224A>G (p.Leu1408=) c.86A>G c.1633A>G c.1929A>G (p.Leu643=) c.4356A>G (p.Leu1452=) c.4203A>G (p.Leu1401=) c.3984A>G (p.Leu1328=) c.3675A>G (p.Leu1225=) c.3324A>G (p.Leu1108=) n.4881A>G | |
| 3 | g.113327712T>G | CA353777712 | CFAP44 | c.4224A>C (p.Leu1408Phe) c.86A>C c.1633A>C c.1929A>C (p.Leu643Phe) c.4356A>C (p.Leu1452Phe) c.4203A>C (p.Leu1401Phe) c.3984A>C (p.Leu1328Phe) c.3675A>C (p.Leu1225Phe) c.3324A>C (p.Leu1108Phe) n.4881A>C | |
| 3 | g.113327713A>C | CA353777713 | CFAP44 | c.4223T>G (p.Leu1408Ter) c.85T>G c.1632T>G c.1928T>G (p.Leu643Ter) c.4355T>G (p.Leu1452Ter) c.4202T>G (p.Leu1401Ter) c.3983T>G (p.Leu1328Ter) c.3674T>G (p.Leu1225Ter) c.3323T>G (p.Leu1108Ter) n.4880T>G | |
| 3 | g.113327713A>G | CA353777714 | CFAP44 | c.4223T>C (p.Leu1408Ser) c.85T>C c.1632T>C c.1928T>C (p.Leu643Ser) c.4355T>C (p.Leu1452Ser) c.4202T>C (p.Leu1401Ser) c.3983T>C (p.Leu1328Ser) c.3674T>C (p.Leu1225Ser) c.3323T>C (p.Leu1108Ser) n.4880T>C | gnomAD v4 |
| 3 | g.113327713A>T | CA353777715 | CFAP44 | c.4223T>A (p.Leu1408Ter) c.85T>A c.1632T>A c.1928T>A (p.Leu643Ter) c.4355T>A (p.Leu1452Ter) c.4202T>A (p.Leu1401Ter) c.3983T>A (p.Leu1328Ter) c.3674T>A (p.Leu1225Ter) c.3323T>A (p.Leu1108Ter) n.4880T>A | |
| 3 | g.113327714A>C | CA353777717 | CFAP44 | c.4222T>G (p.Leu1408Val) c.84T>G c.1631T>G c.1927T>G (p.Leu643Val) c.4354T>G (p.Leu1452Val) c.4201T>G (p.Leu1401Val) c.3982T>G (p.Leu1328Val) c.3673T>G (p.Leu1225Val) c.3322T>G (p.Leu1108Val) n.4879T>G | |
| 3 | g.113327714A>G | CA434930857 | CFAP44 | c.4222T>C (p.Leu1408=) c.84T>C c.1631T>C c.1927T>C (p.Leu643=) c.4354T>C (p.Leu1452=) c.4201T>C (p.Leu1401=) c.3982T>C (p.Leu1328=) c.3673T>C (p.Leu1225=) c.3322T>C (p.Leu1108=) n.4879T>C | |
| 3 | g.113327714A>T | CA353777716 | CFAP44 | c.4222T>A (p.Leu1408Ile) c.84T>A c.1631T>A c.1927T>A (p.Leu643Ile) c.4354T>A (p.Leu1452Ile) c.4201T>A (p.Leu1401Ile) c.3982T>A (p.Leu1328Ile) c.3673T>A (p.Leu1225Ile) c.3322T>A (p.Leu1108Ile) n.4879T>A | |
| 3 | g.113327715G>A | CA434930860 | CFAP44 | c.4221C>T (p.Thr1407=) c.83C>T c.1630C>T c.1926C>T (p.Thr642=) c.4353C>T (p.Thr1451=) c.4200C>T (p.Thr1400=) c.3981C>T (p.Thr1327=) c.3672C>T (p.Thr1224=) c.3321C>T (p.Thr1107=) n.4878C>T | |
| 3 | g.113327715G>C | CA434930862 | CFAP44 | c.4221C>G (p.Thr1407=) c.83C>G c.1630C>G c.1926C>G (p.Thr642=) c.4353C>G (p.Thr1451=) c.4200C>G (p.Thr1400=) c.3981C>G (p.Thr1327=) c.3672C>G (p.Thr1224=) c.3321C>G (p.Thr1107=) n.4878C>G | |
| 3 | g.113327715G= | CA1394216491 | CFAP44 | c.4221C= (p.Thr1407=) c.83C= c.1630C= c.1926C= (p.Thr642=) c.4353C= (p.Thr1451=) c.4200C= (p.Thr1400=) c.3981C= (p.Thr1327=) c.3672C= (p.Thr1224=) c.3321C= (p.Thr1107=) n.4878C= | |
| 3 | g.113327715G>T | CA434930861 | CFAP44 | c.4221C>A (p.Thr1407=) c.83C>A c.1630C>A c.1926C>A (p.Thr642=) c.4353C>A (p.Thr1451=) c.4200C>A (p.Thr1400=) c.3981C>A (p.Thr1327=) c.3672C>A (p.Thr1224=) c.3321C>A (p.Thr1107=) n.4878C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113327716G>A | CA353777718 | CFAP44 | c.4220C>T (p.Thr1407Ile) c.82C>T c.1629C>T c.1925C>T (p.Thr642Ile) c.4352C>T (p.Thr1451Ile) c.4199C>T (p.Thr1400Ile) c.3980C>T (p.Thr1327Ile) c.3671C>T (p.Thr1224Ile) c.3320C>T (p.Thr1107Ile) n.4877C>T | |
| 3 | g.113327716G>C | CA353777719 | CFAP44 | c.4220C>G (p.Thr1407Ser) c.82C>G c.1629C>G c.1925C>G (p.Thr642Ser) c.4352C>G (p.Thr1451Ser) c.4199C>G (p.Thr1400Ser) c.3980C>G (p.Thr1327Ser) c.3671C>G (p.Thr1224Ser) c.3320C>G (p.Thr1107Ser) n.4877C>G | |
| 3 | g.113327716G>T | CA353777720 | CFAP44 | c.4220C>A (p.Thr1407Asn) c.82C>A c.1629C>A c.1925C>A (p.Thr642Asn) c.4352C>A (p.Thr1451Asn) c.4199C>A (p.Thr1400Asn) c.3980C>A (p.Thr1327Asn) c.3671C>A (p.Thr1224Asn) c.3320C>A (p.Thr1107Asn) n.4877C>A | gnomAD v4 |
| 3 | g.113327717T>A | CA353777721 | CFAP44 | c.4219A>T (p.Thr1407Ser) c.81A>T c.1628A>T c.1924A>T (p.Thr642Ser) c.4351A>T (p.Thr1451Ser) c.4198A>T (p.Thr1400Ser) c.3979A>T (p.Thr1327Ser) c.3670A>T (p.Thr1224Ser) c.3319A>T (p.Thr1107Ser) n.4876A>T | |
| 3 | g.113327717T>C | CA353777722 | CFAP44 | c.4219A>G (p.Thr1407Ala) c.81A>G c.1628A>G c.1924A>G (p.Thr642Ala) c.4351A>G (p.Thr1451Ala) c.4198A>G (p.Thr1400Ala) c.3979A>G (p.Thr1327Ala) c.3670A>G (p.Thr1224Ala) c.3319A>G (p.Thr1107Ala) n.4876A>G | |
| 3 | g.113327717T>G | CA353777723 | CFAP44 | c.4219A>C (p.Thr1407Pro) c.81A>C c.1628A>C c.1924A>C (p.Thr642Pro) c.4351A>C (p.Thr1451Pro) c.4198A>C (p.Thr1400Pro) c.3979A>C (p.Thr1327Pro) c.3670A>C (p.Thr1224Pro) c.3319A>C (p.Thr1107Pro) n.4876A>C | |
| 3 | g.113327718G>A | CA434930867 | CFAP44 | c.4218C>T (p.Val1406=) c.80C>T c.1627C>T c.1923C>T (p.Val641=) c.4350C>T (p.Val1450=) c.4197C>T (p.Val1399=) c.3978C>T (p.Val1326=) c.3669C>T (p.Val1223=) c.3318C>T (p.Val1106=) n.4875C>T | |
| 3 | g.113327718G>C | CA434930868 | CFAP44 | c.4218C>G (p.Val1406=) c.80C>G c.1627C>G c.1923C>G (p.Val641=) c.4350C>G (p.Val1450=) c.4197C>G (p.Val1399=) c.3978C>G (p.Val1326=) c.3669C>G (p.Val1223=) c.3318C>G (p.Val1106=) n.4875C>G | |
| 3 | g.113327718G>T | CA434930870 | CFAP44 | c.4218C>A (p.Val1406=) c.80C>A c.1627C>A c.1923C>A (p.Val641=) c.4350C>A (p.Val1450=) c.4197C>A (p.Val1399=) c.3978C>A (p.Val1326=) c.3669C>A (p.Val1223=) c.3318C>A (p.Val1106=) n.4875C>A | |
| 3 | g.113327719A>C | CA353777726 | CFAP44 | c.4217T>G (p.Val1406Gly) c.79T>G c.1626T>G c.1922T>G (p.Val641Gly) c.4349T>G (p.Val1450Gly) c.4196T>G (p.Val1399Gly) c.3977T>G (p.Val1326Gly) c.3668T>G (p.Val1223Gly) c.3317T>G (p.Val1106Gly) n.4874T>G | |
| 3 | g.113327719A>G | CA353777724 | CFAP44 | c.4217T>C (p.Val1406Ala) c.79T>C c.1626T>C c.1922T>C (p.Val641Ala) c.4349T>C (p.Val1450Ala) c.4196T>C (p.Val1399Ala) c.3977T>C (p.Val1326Ala) c.3668T>C (p.Val1223Ala) c.3317T>C (p.Val1106Ala) n.4874T>C | |
| 3 | g.113327719A>T | CA353777725 | CFAP44 | c.4217T>A (p.Val1406Asp) c.79T>A c.1626T>A c.1922T>A (p.Val641Asp) c.4349T>A (p.Val1450Asp) c.4196T>A (p.Val1399Asp) c.3977T>A (p.Val1326Asp) c.3668T>A (p.Val1223Asp) c.3317T>A (p.Val1106Asp) n.4874T>A | |
| 3 | g.113327720C>A | CA353777727 | CFAP44 | c.4216G>T (p.Val1406Phe) c.78G>T c.1625G>T c.1921G>T (p.Val641Phe) c.4348G>T (p.Val1450Phe) c.4195G>T (p.Val1399Phe) c.3976G>T (p.Val1326Phe) c.3667G>T (p.Val1223Phe) c.3316G>T (p.Val1106Phe) n.4873G>T | |
| 3 | g.113327720C>G | CA353777728 | CFAP44 | c.4216G>C (p.Val1406Leu) c.78G>C c.1625G>C c.1921G>C (p.Val641Leu) c.4348G>C (p.Val1450Leu) c.4195G>C (p.Val1399Leu) c.3976G>C (p.Val1326Leu) c.3667G>C (p.Val1223Leu) c.3316G>C (p.Val1106Leu) n.4873G>C | |
| 3 | g.113327720C>T | CA353777729 | CFAP44 | c.4216G>A (p.Val1406Ile) c.78G>A c.1625G>A c.1921G>A (p.Val641Ile) c.4348G>A (p.Val1450Ile) c.4195G>A (p.Val1399Ile) c.3976G>A (p.Val1326Ile) c.3667G>A (p.Val1223Ile) c.3316G>A (p.Val1106Ile) n.4873G>A | gnomAD v4 |
| 3 | g.113327721A>C | CA353777730 | CFAP44 | c.4215T>G (p.His1405Gln) c.77T>G c.1624T>G c.1920T>G (p.His640Gln) c.4347T>G (p.His1449Gln) c.4194T>G (p.His1398Gln) c.3975T>G (p.His1325Gln) c.3666T>G (p.His1222Gln) c.3315T>G (p.His1105Gln) n.4872T>G | |
| 3 | g.113327721A>G | CA434930877 | CFAP44 | c.4215T>C (p.His1405=) c.77T>C c.1624T>C c.1920T>C (p.His640=) c.4347T>C (p.His1449=) c.4194T>C (p.His1398=) c.3975T>C (p.His1325=) c.3666T>C (p.His1222=) c.3315T>C (p.His1105=) n.4872T>C | |
| 3 | g.113327721A>T | CA353777731 | CFAP44 | c.4215T>A (p.His1405Gln) c.77T>A c.1624T>A c.1920T>A (p.His640Gln) c.4347T>A (p.His1449Gln) c.4194T>A (p.His1398Gln) c.3975T>A (p.His1325Gln) c.3666T>A (p.His1222Gln) c.3315T>A (p.His1105Gln) n.4872T>A | |
| 3 | g.113327722T>A | CA353777732 | CFAP44 | c.4214A>T (p.His1405Leu) c.76A>T c.1623A>T c.1919A>T (p.His640Leu) c.4346A>T (p.His1449Leu) c.4193A>T (p.His1398Leu) c.3974A>T (p.His1325Leu) c.3665A>T (p.His1222Leu) c.3314A>T (p.His1105Leu) n.4871A>T | gnomAD v4 |
| 3 | g.113327722T>C | CA353777734 | CFAP44 | c.4214A>G (p.His1405Arg) c.76A>G c.1623A>G c.1919A>G (p.His640Arg) c.4346A>G (p.His1449Arg) c.4193A>G (p.His1398Arg) c.3974A>G (p.His1325Arg) c.3665A>G (p.His1222Arg) c.3314A>G (p.His1105Arg) n.4871A>G | gnomAD v4 COSMIC COSMIC |
| 3 | g.113327722T>G | CA353777733 | CFAP44 | c.4214A>C (p.His1405Pro) c.76A>C c.1623A>C c.1919A>C (p.His640Pro) c.4346A>C (p.His1449Pro) c.4193A>C (p.His1398Pro) c.3974A>C (p.His1325Pro) c.3665A>C (p.His1222Pro) c.3314A>C (p.His1105Pro) n.4871A>C | |
| 3 | g.113327723G>A | CA353777735 | CFAP44 | c.4213C>T (p.His1405Tyr) c.75C>T c.1622C>T c.1918C>T (p.His640Tyr) c.4345C>T (p.His1449Tyr) c.4192C>T (p.His1398Tyr) c.3973C>T (p.His1325Tyr) c.3664C>T (p.His1222Tyr) c.3313C>T (p.His1105Tyr) n.4870C>T | dbSNP |
| 3 | g.113327723G>C | CA353777736 | CFAP44 | c.4213C>G (p.His1405Asp) c.75C>G c.1622C>G c.1918C>G (p.His640Asp) c.4345C>G (p.His1449Asp) c.4192C>G (p.His1398Asp) c.3973C>G (p.His1325Asp) c.3664C>G (p.His1222Asp) c.3313C>G (p.His1105Asp) n.4870C>G | |
| 3 | g.113327723G= | CA1394216496 | CFAP44 | c.4213C= (p.His1405=) c.75C= c.1622C= c.1918C= (p.His640=) c.4345C= (p.His1449=) c.4192C= (p.His1398=) c.3973C= (p.His1325=) c.3664C= (p.His1222=) c.3313C= (p.His1105=) n.4870C= | |
| 3 | g.113327723G>T | CA353777737 | CFAP44 | c.4213C>A (p.His1405Asn) c.75C>A c.1622C>A c.1918C>A (p.His640Asn) c.4345C>A (p.His1449Asn) c.4192C>A (p.His1398Asn) c.3973C>A (p.His1325Asn) c.3664C>A (p.His1222Asn) c.3313C>A (p.His1105Asn) n.4870C>A | dbSNP |
| 3 | g.113327724dup | CA2559538679 | CFAP44 | c.4213dup (p.His1405ProfsTer15) c.75dup c.1622dup c.1918dup (p.His640ProfsTer15) c.4345dup (p.His1449ProfsTer15) c.4192dup (p.His1398ProfsTer15) c.3973dup (p.His1325ProfsTer15) c.3664dup (p.His1222ProfsTer15) c.3313dup (p.His1105ProfsTer15) n.4870dup | |
| 3 | g.113327724G>A | CA434930881 | CFAP44 | c.4212C>T (p.His1404=) c.74C>T c.1621C>T c.1917C>T (p.His639=) c.4344C>T (p.His1448=) c.4191C>T (p.His1397=) c.3972C>T (p.His1324=) c.3663C>T (p.His1221=) c.3312C>T (p.His1104=) n.4869C>T | gnomAD v4 |
| 3 | g.113327724G>C | CA353777738 | CFAP44 | c.4212C>G (p.His1404Gln) c.74C>G c.1621C>G c.1917C>G (p.His639Gln) c.4344C>G (p.His1448Gln) c.4191C>G (p.His1397Gln) c.3972C>G (p.His1324Gln) c.3663C>G (p.His1221Gln) c.3312C>G (p.His1104Gln) n.4869C>G | |
| 3 | g.113327724G= | CA1394216500 | CFAP44 | c.4212C= (p.His1404=) c.74C= c.1621C= c.1917C= (p.His639=) c.4344C= (p.His1448=) c.4191C= (p.His1397=) c.3972C= (p.His1324=) c.3663C= (p.His1221=) c.3312C= (p.His1104=) n.4869C= | |
| 3 | g.113327724G>T | CA353777739 | CFAP44 | c.4212C>A (p.His1404Gln) c.74C>A c.1621C>A c.1917C>A (p.His639Gln) c.4344C>A (p.His1448Gln) c.4191C>A (p.His1397Gln) c.3972C>A (p.His1324Gln) c.3663C>A (p.His1221Gln) c.3312C>A (p.His1104Gln) n.4869C>A | dbSNP |
| 3 | g.113327725T>A | CA353777740 | CFAP44 | c.4211A>T (p.His1404Leu) c.73A>T c.1620A>T c.1916A>T (p.His639Leu) c.4343A>T (p.His1448Leu) c.4190A>T (p.His1397Leu) c.3971A>T (p.His1324Leu) c.3662A>T (p.His1221Leu) c.3311A>T (p.His1104Leu) n.4868A>T | |
| 3 | g.113327725T>C | CA353777741 | CFAP44 | c.4211A>G (p.His1404Arg) c.73A>G c.1620A>G c.1916A>G (p.His639Arg) c.4343A>G (p.His1448Arg) c.4190A>G (p.His1397Arg) c.3971A>G (p.His1324Arg) c.3662A>G (p.His1221Arg) c.3311A>G (p.His1104Arg) n.4868A>G | |
| 3 | g.113327725T>G | CA353777742 | CFAP44 | c.4211A>C (p.His1404Pro) c.73A>C c.1620A>C c.1916A>C (p.His639Pro) c.4343A>C (p.His1448Pro) c.4190A>C (p.His1397Pro) c.3971A>C (p.His1324Pro) c.3662A>C (p.His1221Pro) c.3311A>C (p.His1104Pro) n.4868A>C | |
| 3 | g.113327726G>A | CA353777743 | CFAP44 | c.4210C>T (p.His1404Tyr) c.72C>T c.1619C>T c.1915C>T (p.His639Tyr) c.4342C>T (p.His1448Tyr) c.4189C>T (p.His1397Tyr) c.3970C>T (p.His1324Tyr) c.3661C>T (p.His1221Tyr) c.3310C>T (p.His1104Tyr) n.4867C>T | gnomAD v4 |
| 3 | g.113327726G>C | CA353777744 | CFAP44 | c.4210C>G (p.His1404Asp) c.72C>G c.1619C>G c.1915C>G (p.His639Asp) c.4342C>G (p.His1448Asp) c.4189C>G (p.His1397Asp) c.3970C>G (p.His1324Asp) c.3661C>G (p.His1221Asp) c.3310C>G (p.His1104Asp) n.4867C>G | gnomAD v4 |
| 3 | g.113327726G>T | CA353777745 | CFAP44 | c.4210C>A (p.His1404Asn) c.72C>A c.1619C>A c.1915C>A (p.His639Asn) c.4342C>A (p.His1448Asn) c.4189C>A (p.His1397Asn) c.3970C>A (p.His1324Asn) c.3661C>A (p.His1221Asn) c.3310C>A (p.His1104Asn) n.4867C>A | |
| 3 | g.113327727C>A | CA434930888 | CFAP44 | c.4209G>T (p.Leu1403=) c.71G>T c.1618G>T c.1914G>T (p.Leu638=) c.4341G>T (p.Leu1447=) c.4188G>T (p.Leu1396=) c.3969G>T (p.Leu1323=) c.3660G>T (p.Leu1220=) c.3309G>T (p.Leu1103=) n.4866G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113327727C= | CA1394216502 | CFAP44 | c.4209G= (p.Leu1403=) c.71G= c.1618G= c.1914G= (p.Leu638=) c.4341G= (p.Leu1447=) c.4188G= (p.Leu1396=) c.3969G= (p.Leu1323=) c.3660G= (p.Leu1220=) c.3309G= (p.Leu1103=) n.4866G= | |
| 3 | g.113327727C>G | CA434930889 | CFAP44 | c.4209G>C (p.Leu1403=) c.71G>C c.1618G>C c.1914G>C (p.Leu638=) c.4341G>C (p.Leu1447=) c.4188G>C (p.Leu1396=) c.3969G>C (p.Leu1323=) c.3660G>C (p.Leu1220=) c.3309G>C (p.Leu1103=) n.4866G>C | |
| 3 | g.113327727C>T | CA434930891 | CFAP44 | c.4209G>A (p.Leu1403=) c.71G>A c.1618G>A c.1914G>A (p.Leu638=) c.4341G>A (p.Leu1447=) c.4188G>A (p.Leu1396=) c.3969G>A (p.Leu1323=) c.3660G>A (p.Leu1220=) c.3309G>A (p.Leu1103=) n.4866G>A | |
| 3 | g.113327728A>C | CA353777747 | CFAP44 | c.4208T>G (p.Leu1403Arg) c.70T>G c.1617T>G c.1913T>G (p.Leu638Arg) c.4340T>G (p.Leu1447Arg) c.4187T>G (p.Leu1396Arg) c.3968T>G (p.Leu1323Arg) c.3659T>G (p.Leu1220Arg) c.3308T>G (p.Leu1103Arg) n.4865T>G | |
| 3 | g.113327728A>G | CA353777748 | CFAP44 | c.4208T>C (p.Leu1403Pro) c.70T>C c.1617T>C c.1913T>C (p.Leu638Pro) c.4340T>C (p.Leu1447Pro) c.4187T>C (p.Leu1396Pro) c.3968T>C (p.Leu1323Pro) c.3659T>C (p.Leu1220Pro) c.3308T>C (p.Leu1103Pro) n.4865T>C | |
| 3 | g.113327728A>T | CA353777746 | CFAP44 | c.4208T>A (p.Leu1403Gln) c.70T>A c.1617T>A c.1913T>A (p.Leu638Gln) c.4340T>A (p.Leu1447Gln) c.4187T>A (p.Leu1396Gln) c.3968T>A (p.Leu1323Gln) c.3659T>A (p.Leu1220Gln) c.3308T>A (p.Leu1103Gln) n.4865T>A | |
| 3 | g.113327729G>A | CA434930894 | CFAP44 | c.4207C>T (p.Leu1403=) c.69C>T c.1616C>T c.1912C>T (p.Leu638=) c.4339C>T (p.Leu1447=) c.4186C>T (p.Leu1396=) c.3967C>T (p.Leu1323=) c.3658C>T (p.Leu1220=) c.3307C>T (p.Leu1103=) n.4864C>T | dbSNP gnomAD v4 |
| 3 | g.113327729G>C | CA2543653 | CFAP44 | c.4207C>G (p.Leu1403Val) c.69C>G c.1616C>G c.1912C>G (p.Leu638Val) c.4339C>G (p.Leu1447Val) c.4186C>G (p.Leu1396Val) c.3967C>G (p.Leu1323Val) c.3658C>G (p.Leu1220Val) c.3307C>G (p.Leu1103Val) n.4864C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327729G= | CA1394216507 | CFAP44 | c.4207C= (p.Leu1403=) c.69C= c.1616C= c.1912C= (p.Leu638=) c.4339C= (p.Leu1447=) c.4186C= (p.Leu1396=) c.3967C= (p.Leu1323=) c.3658C= (p.Leu1220=) c.3307C= (p.Leu1103=) n.4864C= | |
| 3 | g.113327729G>T | CA353777749 | CFAP44 | c.4207C>A (p.Leu1403Met) c.69C>A c.1616C>A c.1912C>A (p.Leu638Met) c.4339C>A (p.Leu1447Met) c.4186C>A (p.Leu1396Met) c.3967C>A (p.Leu1323Met) c.3658C>A (p.Leu1220Met) c.3307C>A (p.Leu1103Met) n.4864C>A | |
| 3 | g.113327730G>A | CA434930898 | CFAP44 | c.4206C>T (p.Asp1402=) c.68C>T c.1615C>T c.1911C>T (p.Asp637=) c.4338C>T (p.Asp1446=) c.4185C>T (p.Asp1395=) c.3966C>T (p.Asp1322=) c.3657C>T (p.Asp1219=) c.3306C>T (p.Asp1102=) n.4863C>T | |
| 3 | g.113327730G>C | CA353777750 | CFAP44 | c.4206C>G (p.Asp1402Glu) c.68C>G c.1615C>G c.1911C>G (p.Asp637Glu) c.4338C>G (p.Asp1446Glu) c.4185C>G (p.Asp1395Glu) c.3966C>G (p.Asp1322Glu) c.3657C>G (p.Asp1219Glu) c.3306C>G (p.Asp1102Glu) n.4863C>G | |
| 3 | g.113327730G>T | CA353777751 | CFAP44 | c.4206C>A (p.Asp1402Glu) c.68C>A c.1615C>A c.1911C>A (p.Asp637Glu) c.4338C>A (p.Asp1446Glu) c.4185C>A (p.Asp1395Glu) c.3966C>A (p.Asp1322Glu) c.3657C>A (p.Asp1219Glu) c.3306C>A (p.Asp1102Glu) n.4863C>A | |
| 3 | g.113327731T>A | CA353777752 | CFAP44 | c.4205A>T (p.Asp1402Val) c.67A>T c.1614A>T c.1910A>T (p.Asp637Val) c.4337A>T (p.Asp1446Val) c.4184A>T (p.Asp1395Val) c.3965A>T (p.Asp1322Val) c.3656A>T (p.Asp1219Val) c.3305A>T (p.Asp1102Val) n.4862A>T | |
| 3 | g.113327731T>C | CA353777753 | CFAP44 | c.4205A>G (p.Asp1402Gly) c.67A>G c.1614A>G c.1910A>G (p.Asp637Gly) c.4337A>G (p.Asp1446Gly) c.4184A>G (p.Asp1395Gly) c.3965A>G (p.Asp1322Gly) c.3656A>G (p.Asp1219Gly) c.3305A>G (p.Asp1102Gly) n.4862A>G | |
| 3 | g.113327731T>G | CA353777754 | CFAP44 | c.4205A>C (p.Asp1402Ala) c.67A>C c.1614A>C c.1910A>C (p.Asp637Ala) c.4337A>C (p.Asp1446Ala) c.4184A>C (p.Asp1395Ala) c.3965A>C (p.Asp1322Ala) c.3656A>C (p.Asp1219Ala) c.3305A>C (p.Asp1102Ala) n.4862A>C | |
| 3 | g.113327732C>A | CA353777755 | CFAP44 | c.4204G>T (p.Asp1402Tyr) c.66G>T c.1613G>T c.1909G>T (p.Asp637Tyr) c.4336G>T (p.Asp1446Tyr) c.4183G>T (p.Asp1395Tyr) c.3964G>T (p.Asp1322Tyr) c.3655G>T (p.Asp1219Tyr) c.3304G>T (p.Asp1102Tyr) n.4861G>T | |
| 3 | g.113327732C>G | CA353777756 | CFAP44 | c.4204G>C (p.Asp1402His) c.66G>C c.1613G>C c.1909G>C (p.Asp637His) c.4336G>C (p.Asp1446His) c.4183G>C (p.Asp1395His) c.3964G>C (p.Asp1322His) c.3655G>C (p.Asp1219His) c.3304G>C (p.Asp1102His) n.4861G>C | |
| 3 | g.113327732C>T | CA353777757 | CFAP44 | c.4204G>A (p.Asp1402Asn) c.66G>A c.1613G>A c.1909G>A (p.Asp637Asn) c.4336G>A (p.Asp1446Asn) c.4183G>A (p.Asp1395Asn) c.3964G>A (p.Asp1322Asn) c.3655G>A (p.Asp1219Asn) c.3304G>A (p.Asp1102Asn) n.4861G>A | COSMIC COSMIC |
| 3 | g.113327733A= | CA1394216514 | CFAP44 | c.4203T= (p.Ser1401=) c.65T= c.1612T= c.1908T= (p.Ser636=) c.4335T= (p.Ser1445=) c.4182T= (p.Ser1394=) c.3963T= (p.Ser1321=) c.3654T= (p.Ser1218=) c.3303T= (p.Ser1101=) n.4860T= | |
| 3 | g.113327733A>C | CA434930906 | CFAP44 | c.4203T>G (p.Ser1401=) c.65T>G c.1612T>G c.1908T>G (p.Ser636=) c.4335T>G (p.Ser1445=) c.4182T>G (p.Ser1394=) c.3963T>G (p.Ser1321=) c.3654T>G (p.Ser1218=) c.3303T>G (p.Ser1101=) n.4860T>G | |
| 3 | g.113327733A>G | CA434930907 | CFAP44 | c.4203T>C (p.Ser1401=) c.65T>C c.1612T>C c.1908T>C (p.Ser636=) c.4335T>C (p.Ser1445=) c.4182T>C (p.Ser1394=) c.3963T>C (p.Ser1321=) c.3654T>C (p.Ser1218=) c.3303T>C (p.Ser1101=) n.4860T>C | dbSNP |
| 3 | g.113327733A>T | CA434930909 | CFAP44 | c.4203T>A (p.Ser1401=) c.65T>A c.1612T>A c.1908T>A (p.Ser636=) c.4335T>A (p.Ser1445=) c.4182T>A (p.Ser1394=) c.3963T>A (p.Ser1321=) c.3654T>A (p.Ser1218=) c.3303T>A (p.Ser1101=) n.4860T>A | COSMIC COSMIC |
| 3 | g.113327734G>A | CA353777758 | CFAP44 | c.4202C>T (p.Ser1401Phe) c.64C>T c.1611C>T c.1907C>T (p.Ser636Phe) c.4334C>T (p.Ser1445Phe) c.4181C>T (p.Ser1394Phe) c.3962C>T (p.Ser1321Phe) c.3653C>T (p.Ser1218Phe) c.3302C>T (p.Ser1101Phe) n.4859C>T | |
| 3 | g.113327734G>C | CA353777759 | CFAP44 | c.4202C>G (p.Ser1401Cys) c.64C>G c.1611C>G c.1907C>G (p.Ser636Cys) c.4334C>G (p.Ser1445Cys) c.4181C>G (p.Ser1394Cys) c.3962C>G (p.Ser1321Cys) c.3653C>G (p.Ser1218Cys) c.3302C>G (p.Ser1101Cys) n.4859C>G | |
| 3 | g.113327734G>T | CA353777760 | CFAP44 | c.4202C>A (p.Ser1401Tyr) c.64C>A c.1611C>A c.1907C>A (p.Ser636Tyr) c.4334C>A (p.Ser1445Tyr) c.4181C>A (p.Ser1394Tyr) c.3962C>A (p.Ser1321Tyr) c.3653C>A (p.Ser1218Tyr) c.3302C>A (p.Ser1101Tyr) n.4859C>A | |
| 3 | g.113327735A>C | CA353777763 | CFAP44 | c.4201T>G (p.Ser1401Ala) c.63T>G c.1610T>G c.1906T>G (p.Ser636Ala) c.4333T>G (p.Ser1445Ala) c.4180T>G (p.Ser1394Ala) c.3961T>G (p.Ser1321Ala) c.3652T>G (p.Ser1218Ala) c.3301T>G (p.Ser1101Ala) n.4858T>G | |
| 3 | g.113327735A>G | CA353777762 | CFAP44 | c.4201T>C (p.Ser1401Pro) c.63T>C c.1610T>C c.1906T>C (p.Ser636Pro) c.4333T>C (p.Ser1445Pro) c.4180T>C (p.Ser1394Pro) c.3961T>C (p.Ser1321Pro) c.3652T>C (p.Ser1218Pro) c.3301T>C (p.Ser1101Pro) n.4858T>C | gnomAD v4 |
| 3 | g.113327735A>T | CA353777761 | CFAP44 | c.4201T>A (p.Ser1401Thr) c.63T>A c.1610T>A c.1906T>A (p.Ser636Thr) c.4333T>A (p.Ser1445Thr) c.4180T>A (p.Ser1394Thr) c.3961T>A (p.Ser1321Thr) c.3652T>A (p.Ser1218Thr) c.3301T>A (p.Ser1101Thr) n.4858T>A | |
| 3 | g.113327736T>A | CA353777764 | CFAP44 | c.4200A>T (p.Leu1400Phe) c.62A>T c.1609A>T c.1905A>T (p.Leu635Phe) c.4332A>T (p.Leu1444Phe) c.4179A>T (p.Leu1393Phe) c.3960A>T (p.Leu1320Phe) c.3651A>T (p.Leu1217Phe) c.3300A>T (p.Leu1100Phe) n.4857A>T | |
| 3 | g.113327736T>C | CA434930916 | CFAP44 | c.4200A>G (p.Leu1400=) c.62A>G c.1609A>G c.1905A>G (p.Leu635=) c.4332A>G (p.Leu1444=) c.4179A>G (p.Leu1393=) c.3960A>G (p.Leu1320=) c.3651A>G (p.Leu1217=) c.3300A>G (p.Leu1100=) n.4857A>G | |
| 3 | g.113327736T>G | CA353777765 | CFAP44 | c.4200A>C (p.Leu1400Phe) c.62A>C c.1609A>C c.1905A>C (p.Leu635Phe) c.4332A>C (p.Leu1444Phe) c.4179A>C (p.Leu1393Phe) c.3960A>C (p.Leu1320Phe) c.3651A>C (p.Leu1217Phe) c.3300A>C (p.Leu1100Phe) n.4857A>C | |
| 3 | g.113327737A= | CA1394216522 | CFAP44 | c.4199T= (p.Leu1400=) c.61T= c.1608T= c.1904T= (p.Leu635=) c.4331T= (p.Leu1444=) c.4178T= (p.Leu1393=) c.3959T= (p.Leu1320=) c.3650T= (p.Leu1217=) c.3299T= (p.Leu1100=) n.4856T= | |
| 3 | g.113327737A>C | CA353777766 | CFAP44 | c.4199T>G (p.Leu1400Ter) c.61T>G c.1608T>G c.1904T>G (p.Leu635Ter) c.4331T>G (p.Leu1444Ter) c.4178T>G (p.Leu1393Ter) c.3959T>G (p.Leu1320Ter) c.3650T>G (p.Leu1217Ter) c.3299T>G (p.Leu1100Ter) n.4856T>G | |
| 3 | g.113327737A>G | CA353777767 | CFAP44 | c.4199T>C (p.Leu1400Ser) c.61T>C c.1608T>C c.1904T>C (p.Leu635Ser) c.4331T>C (p.Leu1444Ser) c.4178T>C (p.Leu1393Ser) c.3959T>C (p.Leu1320Ser) c.3650T>C (p.Leu1217Ser) c.3299T>C (p.Leu1100Ser) n.4856T>C | dbSNP |
| 3 | g.113327737A>T | CA353777768 | CFAP44 | c.4199T>A (p.Leu1400Ter) c.61T>A c.1608T>A c.1904T>A (p.Leu635Ter) c.4331T>A (p.Leu1444Ter) c.4178T>A (p.Leu1393Ter) c.3959T>A (p.Leu1320Ter) c.3650T>A (p.Leu1217Ter) c.3299T>A (p.Leu1100Ter) n.4856T>A | |
| 3 | g.113327738A= | CA1394216531 | CFAP44 | c.4198T= (p.Leu1400=) c.60T= c.1607T= c.1903T= (p.Leu635=) c.4330T= (p.Leu1444=) c.4177T= (p.Leu1393=) c.3958T= (p.Leu1320=) c.3649T= (p.Leu1217=) c.3298T= (p.Leu1100=) n.4855T= | |
| 3 | g.113327738A>C | CA81542508 | CFAP44 | c.4198T>G (p.Leu1400Val) c.60T>G c.1607T>G c.1903T>G (p.Leu635Val) c.4330T>G (p.Leu1444Val) c.4177T>G (p.Leu1393Val) c.3958T>G (p.Leu1320Val) c.3649T>G (p.Leu1217Val) c.3298T>G (p.Leu1100Val) n.4855T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327738A>G | CA434930921 | CFAP44 | c.4198T>C (p.Leu1400=) c.60T>C c.1607T>C c.1903T>C (p.Leu635=) c.4330T>C (p.Leu1444=) c.4177T>C (p.Leu1393=) c.3958T>C (p.Leu1320=) c.3649T>C (p.Leu1217=) c.3298T>C (p.Leu1100=) n.4855T>C | |
| 3 | g.113327738A>T | CA353777769 | CFAP44 | c.4198T>A (p.Leu1400Ile) c.60T>A c.1607T>A c.1903T>A (p.Leu635Ile) c.4330T>A (p.Leu1444Ile) c.4177T>A (p.Leu1393Ile) c.3958T>A (p.Leu1320Ile) c.3649T>A (p.Leu1217Ile) c.3298T>A (p.Leu1100Ile) n.4855T>A | |
| 3 | g.113327739T>A | CA353777770 | CFAP44 | c.4197A>T (p.Lys1399Asn) c.59A>T c.1606A>T c.1902A>T (p.Lys634Asn) c.4329A>T (p.Lys1443Asn) c.4176A>T (p.Lys1392Asn) c.3957A>T (p.Lys1319Asn) c.3648A>T (p.Lys1216Asn) c.3297A>T (p.Lys1099Asn) n.4854A>T | |
| 3 | g.113327739T>C | CA434930924 | CFAP44 | c.4197A>G (p.Lys1399=) c.59A>G c.1606A>G c.1902A>G (p.Lys634=) c.4329A>G (p.Lys1443=) c.4176A>G (p.Lys1392=) c.3957A>G (p.Lys1319=) c.3648A>G (p.Lys1216=) c.3297A>G (p.Lys1099=) n.4854A>G | |
| 3 | g.113327739T>G | CA353777771 | CFAP44 | c.4197A>C (p.Lys1399Asn) c.59A>C c.1606A>C c.1902A>C (p.Lys634Asn) c.4329A>C (p.Lys1443Asn) c.4176A>C (p.Lys1392Asn) c.3957A>C (p.Lys1319Asn) c.3648A>C (p.Lys1216Asn) c.3297A>C (p.Lys1099Asn) n.4854A>C | |
| 3 | g.113327740T>A | CA353777772 | CFAP44 | c.4196A>T (p.Lys1399Ile) c.58A>T c.1605A>T c.1901A>T (p.Lys634Ile) c.4328A>T (p.Lys1443Ile) c.4175A>T (p.Lys1392Ile) c.3956A>T (p.Lys1319Ile) c.3647A>T (p.Lys1216Ile) c.3296A>T (p.Lys1099Ile) n.4853A>T | |
| 3 | g.113327740T>C | CA353777773 | CFAP44 | c.4196A>G (p.Lys1399Arg) c.58A>G c.1605A>G c.1901A>G (p.Lys634Arg) c.4328A>G (p.Lys1443Arg) c.4175A>G (p.Lys1392Arg) c.3956A>G (p.Lys1319Arg) c.3647A>G (p.Lys1216Arg) c.3296A>G (p.Lys1099Arg) n.4853A>G | |
| 3 | g.113327740T>G | CA353777774 | CFAP44 | c.4196A>C (p.Lys1399Thr) c.58A>C c.1605A>C c.1901A>C (p.Lys634Thr) c.4328A>C (p.Lys1443Thr) c.4175A>C (p.Lys1392Thr) c.3956A>C (p.Lys1319Thr) c.3647A>C (p.Lys1216Thr) c.3296A>C (p.Lys1099Thr) n.4853A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327740T= | CA1394216535 | CFAP44 | c.4196A= (p.Lys1399=) c.58A= c.1605A= c.1901A= (p.Lys634=) c.4328A= (p.Lys1443=) c.4175A= (p.Lys1392=) c.3956A= (p.Lys1319=) c.3647A= (p.Lys1216=) c.3296A= (p.Lys1099=) n.4853A= | |
| 3 | g.113327741T>A | CA353777777 | CFAP44 | c.4195A>T (p.Lys1399Ter) c.57A>T c.1604A>T c.1900A>T (p.Lys634Ter) c.4327A>T (p.Lys1443Ter) c.4174A>T (p.Lys1392Ter) c.3955A>T (p.Lys1319Ter) c.3646A>T (p.Lys1216Ter) c.3295A>T (p.Lys1099Ter) n.4852A>T | |
| 3 | g.113327741T>C | CA353777776 | CFAP44 | c.4195A>G (p.Lys1399Glu) c.57A>G c.1604A>G c.1900A>G (p.Lys634Glu) c.4327A>G (p.Lys1443Glu) c.4174A>G (p.Lys1392Glu) c.3955A>G (p.Lys1319Glu) c.3646A>G (p.Lys1216Glu) c.3295A>G (p.Lys1099Glu) n.4852A>G | |
| 3 | g.113327741T>G | CA353777775 | CFAP44 | c.4195A>C (p.Lys1399Gln) c.57A>C c.1604A>C c.1900A>C (p.Lys634Gln) c.4327A>C (p.Lys1443Gln) c.4174A>C (p.Lys1392Gln) c.3955A>C (p.Lys1319Gln) c.3646A>C (p.Lys1216Gln) c.3295A>C (p.Lys1099Gln) n.4852A>C | |
| 3 | g.113327742C>A | CA353777778 | CFAP44 | c.4194G>T (p.Met1398Ile) c.56G>T c.1603G>T c.1899G>T (p.Met633Ile) c.4326G>T (p.Met1442Ile) c.4173G>T (p.Met1391Ile) c.3954G>T (p.Met1318Ile) c.3645G>T (p.Met1215Ile) c.3294G>T (p.Met1098Ile) n.4851G>T | |
| 3 | g.113327742C>G | CA353777779 | CFAP44 | c.4194G>C (p.Met1398Ile) c.56G>C c.1603G>C c.1899G>C (p.Met633Ile) c.4326G>C (p.Met1442Ile) c.4173G>C (p.Met1391Ile) c.3954G>C (p.Met1318Ile) c.3645G>C (p.Met1215Ile) c.3294G>C (p.Met1098Ile) n.4851G>C | |
| 3 | g.113327742C>T | CA353777780 | CFAP44 | c.4194G>A (p.Met1398Ile) c.56G>A c.1603G>A c.1899G>A (p.Met633Ile) c.4326G>A (p.Met1442Ile) c.4173G>A (p.Met1391Ile) c.3954G>A (p.Met1318Ile) c.3645G>A (p.Met1215Ile) c.3294G>A (p.Met1098Ile) n.4851G>A | gnomAD v4 |
| 3 | g.113327743A>C | CA353777781 | CFAP44 | c.4193T>G (p.Met1398Arg) c.55T>G c.1602T>G c.1898T>G (p.Met633Arg) c.4325T>G (p.Met1442Arg) c.4172T>G (p.Met1391Arg) c.3953T>G (p.Met1318Arg) c.3644T>G (p.Met1215Arg) c.3293T>G (p.Met1098Arg) n.4850T>G | |
| 3 | g.113327743A>G | CA353777782 | CFAP44 | c.4193T>C (p.Met1398Thr) c.55T>C c.1602T>C c.1898T>C (p.Met633Thr) c.4325T>C (p.Met1442Thr) c.4172T>C (p.Met1391Thr) c.3953T>C (p.Met1318Thr) c.3644T>C (p.Met1215Thr) c.3293T>C (p.Met1098Thr) n.4850T>C | |
| 3 | g.113327743A>T | CA353777783 | CFAP44 | c.4193T>A (p.Met1398Lys) c.55T>A c.1602T>A c.1898T>A (p.Met633Lys) c.4325T>A (p.Met1442Lys) c.4172T>A (p.Met1391Lys) c.3953T>A (p.Met1318Lys) c.3644T>A (p.Met1215Lys) c.3293T>A (p.Met1098Lys) n.4850T>A | |
| 3 | g.113327744T>A | CA353777785 | CFAP44 | c.4192A>T (p.Met1398Leu) c.54A>T c.1601A>T c.1897A>T (p.Met633Leu) c.4324A>T (p.Met1442Leu) c.4171A>T (p.Met1391Leu) c.3952A>T (p.Met1318Leu) c.3643A>T (p.Met1215Leu) c.3292A>T (p.Met1098Leu) n.4849A>T | gnomAD v4 |
| 3 | g.113327744T>C | CA353777784 | CFAP44 | c.4192A>G (p.Met1398Val) c.54A>G c.1601A>G c.1897A>G (p.Met633Val) c.4324A>G (p.Met1442Val) c.4171A>G (p.Met1391Val) c.3952A>G (p.Met1318Val) c.3643A>G (p.Met1215Val) c.3292A>G (p.Met1098Val) n.4849A>G | gnomAD v4 |
| 3 | g.113327744T>G | CA81542527 | CFAP44 | c.4192A>C (p.Met1398Leu) c.54A>C c.1601A>C c.1897A>C (p.Met633Leu) c.4324A>C (p.Met1442Leu) c.4171A>C (p.Met1391Leu) c.3952A>C (p.Met1318Leu) c.3643A>C (p.Met1215Leu) c.3292A>C (p.Met1098Leu) n.4849A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327744T= | CA1394216540 | CFAP44 | c.4192A= (p.Met1398=) c.54A= c.1601A= c.1897A= (p.Met633=) c.4324A= (p.Met1442=) c.4171A= (p.Met1391=) c.3952A= (p.Met1318=) c.3643A= (p.Met1215=) c.3292A= (p.Met1098=) n.4849A= | |
| 3 | g.113327745C>A | CA353777786 | CFAP44 | c.4191G>T (p.Gln1397His) c.53G>T c.1600G>T c.1896G>T (p.Gln632His) c.4323G>T (p.Gln1441His) c.4170G>T (p.Gln1390His) c.3951G>T (p.Gln1317His) c.3642G>T (p.Gln1214His) c.3291G>T (p.Gln1097His) n.4848G>T | |
| 3 | g.113327745C>G | CA353777787 | CFAP44 | c.4191G>C (p.Gln1397His) c.53G>C c.1600G>C c.1896G>C (p.Gln632His) c.4323G>C (p.Gln1441His) c.4170G>C (p.Gln1390His) c.3951G>C (p.Gln1317His) c.3642G>C (p.Gln1214His) c.3291G>C (p.Gln1097His) n.4848G>C | |
| 3 | g.113327745C>T | CA434930936 | CFAP44 | c.4191G>A (p.Gln1397=) c.53G>A c.1600G>A c.1896G>A (p.Gln632=) c.4323G>A (p.Gln1441=) c.4170G>A (p.Gln1390=) c.3951G>A (p.Gln1317=) c.3642G>A (p.Gln1214=) c.3291G>A (p.Gln1097=) n.4848G>A | gnomAD v4 |
| 3 | g.113327746T>A | CA353777788 | CFAP44 | c.4190A>T (p.Gln1397Leu) c.52A>T c.1599A>T c.1895A>T (p.Gln632Leu) c.4322A>T (p.Gln1441Leu) c.4169A>T (p.Gln1390Leu) c.3950A>T (p.Gln1317Leu) c.3641A>T (p.Gln1214Leu) c.3290A>T (p.Gln1097Leu) n.4847A>T | |
| 3 | g.113327746T>C | CA353777789 | CFAP44 | c.4190A>G (p.Gln1397Arg) c.52A>G c.1599A>G c.1895A>G (p.Gln632Arg) c.4322A>G (p.Gln1441Arg) c.4169A>G (p.Gln1390Arg) c.3950A>G (p.Gln1317Arg) c.3641A>G (p.Gln1214Arg) c.3290A>G (p.Gln1097Arg) n.4847A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327746T>G | CA353777790 | CFAP44 | c.4190A>C (p.Gln1397Pro) c.52A>C c.1599A>C c.1895A>C (p.Gln632Pro) c.4322A>C (p.Gln1441Pro) c.4169A>C (p.Gln1390Pro) c.3950A>C (p.Gln1317Pro) c.3641A>C (p.Gln1214Pro) c.3290A>C (p.Gln1097Pro) n.4847A>C | |
| 3 | g.113327746T= | CA1394216547 | CFAP44 | c.4190A= (p.Gln1397=) c.52A= c.1599A= c.1895A= (p.Gln632=) c.4322A= (p.Gln1441=) c.4169A= (p.Gln1390=) c.3950A= (p.Gln1317=) c.3641A= (p.Gln1214=) c.3290A= (p.Gln1097=) n.4847A= | |
| 3 | g.113327747G>A | CA353777791 | CFAP44 | c.4189C>T (p.Gln1397Ter) c.51C>T c.1598C>T c.1894C>T (p.Gln632Ter) c.4321C>T (p.Gln1441Ter) c.4168C>T (p.Gln1390Ter) c.3949C>T (p.Gln1317Ter) c.3640C>T (p.Gln1214Ter) c.3289C>T (p.Gln1097Ter) n.4846C>T | |
| 3 | g.113327747G>C | CA353777793 | CFAP44 | c.4189C>G (p.Gln1397Glu) c.51C>G c.1598C>G c.1894C>G (p.Gln632Glu) c.4321C>G (p.Gln1441Glu) c.4168C>G (p.Gln1390Glu) c.3949C>G (p.Gln1317Glu) c.3640C>G (p.Gln1214Glu) c.3289C>G (p.Gln1097Glu) n.4846C>G | |
| 3 | g.113327747G>T | CA353777792 | CFAP44 | c.4189C>A (p.Gln1397Lys) c.51C>A c.1598C>A c.1894C>A (p.Gln632Lys) c.4321C>A (p.Gln1441Lys) c.4168C>A (p.Gln1390Lys) c.3949C>A (p.Gln1317Lys) c.3640C>A (p.Gln1214Lys) c.3289C>A (p.Gln1097Lys) n.4846C>A | |
| 3 | g.113327748A>C | CA434930942 | CFAP44 | c.4188T>G (p.Thr1396=) c.50T>G c.1597T>G c.1893T>G (p.Thr631=) c.4320T>G (p.Thr1440=) c.4167T>G (p.Thr1389=) c.3948T>G (p.Thr1316=) c.3639T>G (p.Thr1213=) c.3288T>G (p.Thr1096=) n.4845T>G | gnomAD v4 |
| 3 | g.113327748A>G | CA434930943 | CFAP44 | c.4188T>C (p.Thr1396=) c.50T>C c.1597T>C c.1893T>C (p.Thr631=) c.4320T>C (p.Thr1440=) c.4167T>C (p.Thr1389=) c.3948T>C (p.Thr1316=) c.3639T>C (p.Thr1213=) c.3288T>C (p.Thr1096=) n.4845T>C | gnomAD v4 |
| 3 | g.113327748A>T | CA434930945 | CFAP44 | c.4188T>A (p.Thr1396=) c.50T>A c.1597T>A c.1893T>A (p.Thr631=) c.4320T>A (p.Thr1440=) c.4167T>A (p.Thr1389=) c.3948T>A (p.Thr1316=) c.3639T>A (p.Thr1213=) c.3288T>A (p.Thr1096=) n.4845T>A | |
| 3 | g.113327749G>A | CA353777794 | CFAP44 | c.4187C>T (p.Thr1396Ile) c.49C>T c.1596C>T c.1892C>T (p.Thr631Ile) c.4319C>T (p.Thr1440Ile) c.4166C>T (p.Thr1389Ile) c.3947C>T (p.Thr1316Ile) c.3638C>T (p.Thr1213Ile) c.3287C>T (p.Thr1096Ile) n.4844C>T | |
| 3 | g.113327749G>C | CA353777795 | CFAP44 | c.4187C>G (p.Thr1396Ser) c.49C>G c.1596C>G c.1892C>G (p.Thr631Ser) c.4319C>G (p.Thr1440Ser) c.4166C>G (p.Thr1389Ser) c.3947C>G (p.Thr1316Ser) c.3638C>G (p.Thr1213Ser) c.3287C>G (p.Thr1096Ser) n.4844C>G | |
| 3 | g.113327749G>T | CA353777796 | CFAP44 | c.4187C>A (p.Thr1396Asn) c.49C>A c.1596C>A c.1892C>A (p.Thr631Asn) c.4319C>A (p.Thr1440Asn) c.4166C>A (p.Thr1389Asn) c.3947C>A (p.Thr1316Asn) c.3638C>A (p.Thr1213Asn) c.3287C>A (p.Thr1096Asn) n.4844C>A | |
| 3 | g.113327750T>A | CA353777797 | CFAP44 | c.4186A>T (p.Thr1396Ser) c.48A>T c.1595A>T c.1891A>T (p.Thr631Ser) c.4318A>T (p.Thr1440Ser) c.4165A>T (p.Thr1389Ser) c.3946A>T (p.Thr1316Ser) c.3637A>T (p.Thr1213Ser) c.3286A>T (p.Thr1096Ser) n.4843A>T | |
| 3 | g.113327750T>C | CA353777798 | CFAP44 | c.4186A>G (p.Thr1396Ala) c.48A>G c.1595A>G c.1891A>G (p.Thr631Ala) c.4318A>G (p.Thr1440Ala) c.4165A>G (p.Thr1389Ala) c.3946A>G (p.Thr1316Ala) c.3637A>G (p.Thr1213Ala) c.3286A>G (p.Thr1096Ala) n.4843A>G | gnomAD v4 |
| 3 | g.113327750T>G | CA353777799 | CFAP44 | c.4186A>C (p.Thr1396Pro) c.48A>C c.1595A>C c.1891A>C (p.Thr631Pro) c.4318A>C (p.Thr1440Pro) c.4165A>C (p.Thr1389Pro) c.3946A>C (p.Thr1316Pro) c.3637A>C (p.Thr1213Pro) c.3286A>C (p.Thr1096Pro) n.4843A>C | |
| 3 | g.113327752_113327755del | CA2577854667 | CFAP44 | c.4183_4186del (p.Asp1395LeufsTer3) c.45_48del c.1592_1595del c.1888_1891del (p.Asp630LeufsTer3) c.4315_4318del (p.Asp1439LeufsTer3) c.4162_4165del (p.Asp1388LeufsTer3) c.3943_3946del (p.Asp1315LeufsTer3) c.3634_3637del (p.Asp1212LeufsTer3) c.3283_3286del (p.Asp1095LeufsTer3) n.4840_4843del | |
| 3 | g.113327751A>C | CA353777800 | CFAP44 | c.4185T>G (p.Asp1395Glu) c.47T>G c.1594T>G c.1890T>G (p.Asp630Glu) c.4317T>G (p.Asp1439Glu) c.4164T>G (p.Asp1388Glu) c.3945T>G (p.Asp1315Glu) c.3636T>G (p.Asp1212Glu) c.3285T>G (p.Asp1095Glu) n.4842T>G | |
| 3 | g.113327751A>G | CA434930955 | CFAP44 | c.4185T>C (p.Asp1395=) c.47T>C c.1594T>C c.1890T>C (p.Asp630=) c.4317T>C (p.Asp1439=) c.4164T>C (p.Asp1388=) c.3945T>C (p.Asp1315=) c.3636T>C (p.Asp1212=) c.3285T>C (p.Asp1095=) n.4842T>C | |
| 3 | g.113327751A>T | CA353777801 | CFAP44 | c.4185T>A (p.Asp1395Glu) c.47T>A c.1594T>A c.1890T>A (p.Asp630Glu) c.4317T>A (p.Asp1439Glu) c.4164T>A (p.Asp1388Glu) c.3945T>A (p.Asp1315Glu) c.3636T>A (p.Asp1212Glu) c.3285T>A (p.Asp1095Glu) n.4842T>A | |
| 3 | g.113327752T>A | CA353777802 | CFAP44 | c.4184A>T (p.Asp1395Val) c.46A>T c.1593A>T c.1889A>T (p.Asp630Val) c.4316A>T (p.Asp1439Val) c.4163A>T (p.Asp1388Val) c.3944A>T (p.Asp1315Val) c.3635A>T (p.Asp1212Val) c.3284A>T (p.Asp1095Val) n.4841A>T | |
| 3 | g.113327752T>C | CA353777803 | CFAP44 | c.4184A>G (p.Asp1395Gly) c.46A>G c.1593A>G c.1889A>G (p.Asp630Gly) c.4316A>G (p.Asp1439Gly) c.4163A>G (p.Asp1388Gly) c.3944A>G (p.Asp1315Gly) c.3635A>G (p.Asp1212Gly) c.3284A>G (p.Asp1095Gly) n.4841A>G | |
| 3 | g.113327752T>G | CA353777804 | CFAP44 | c.4184A>C (p.Asp1395Ala) c.46A>C c.1593A>C c.1889A>C (p.Asp630Ala) c.4316A>C (p.Asp1439Ala) c.4163A>C (p.Asp1388Ala) c.3944A>C (p.Asp1315Ala) c.3635A>C (p.Asp1212Ala) c.3284A>C (p.Asp1095Ala) n.4841A>C | |
| 3 | g.113327753C>A | CA353777807 | CFAP44 | c.4183G>T (p.Asp1395Tyr) c.45G>T c.1592G>T c.1888G>T (p.Asp630Tyr) c.4315G>T (p.Asp1439Tyr) c.4162G>T (p.Asp1388Tyr) c.3943G>T (p.Asp1315Tyr) c.3634G>T (p.Asp1212Tyr) c.3283G>T (p.Asp1095Tyr) n.4840G>T | |
| 3 | g.113327753C>G | CA353777806 | CFAP44 | c.4183G>C (p.Asp1395His) c.45G>C c.1592G>C c.1888G>C (p.Asp630His) c.4315G>C (p.Asp1439His) c.4162G>C (p.Asp1388His) c.3943G>C (p.Asp1315His) c.3634G>C (p.Asp1212His) c.3283G>C (p.Asp1095His) n.4840G>C | |
| 3 | g.113327753C>T | CA353777805 | CFAP44 | c.4183G>A (p.Asp1395Asn) c.45G>A c.1592G>A c.1888G>A (p.Asp630Asn) c.4315G>A (p.Asp1439Asn) c.4162G>A (p.Asp1388Asn) c.3943G>A (p.Asp1315Asn) c.3634G>A (p.Asp1212Asn) c.3283G>A (p.Asp1095Asn) n.4840G>A | |
| 3 | g.113327754T>A | CA434930959 | CFAP44 | c.4182A>T (p.Leu1394=) c.44A>T c.1591A>T c.1887A>T (p.Leu629=) c.4314A>T (p.Leu1438=) c.4161A>T (p.Leu1387=) c.3942A>T (p.Leu1314=) c.3633A>T (p.Leu1211=) c.3282A>T (p.Leu1094=) n.4839A>T | |
| 3 | g.113327754T>C | CA434930956 | CFAP44 | c.4182A>G (p.Leu1394=) c.44A>G c.1591A>G c.1887A>G (p.Leu629=) c.4314A>G (p.Leu1438=) c.4161A>G (p.Leu1387=) c.3942A>G (p.Leu1314=) c.3633A>G (p.Leu1211=) c.3282A>G (p.Leu1094=) n.4839A>G | |
| 3 | g.113327754T>G | CA434930957 | CFAP44 | c.4182A>C (p.Leu1394=) c.44A>C c.1591A>C c.1887A>C (p.Leu629=) c.4314A>C (p.Leu1438=) c.4161A>C (p.Leu1387=) c.3942A>C (p.Leu1314=) c.3633A>C (p.Leu1211=) c.3282A>C (p.Leu1094=) n.4839A>C | |
| 3 | g.113327755A>C | CA353777808 | CFAP44 | c.4181T>G (p.Leu1394Arg) c.43T>G c.1590T>G c.1886T>G (p.Leu629Arg) c.4313T>G (p.Leu1438Arg) c.4160T>G (p.Leu1387Arg) c.3941T>G (p.Leu1314Arg) c.3632T>G (p.Leu1211Arg) c.3281T>G (p.Leu1094Arg) n.4838T>G | gnomAD v4 |
| 3 | g.113327755A>G | CA353777810 | CFAP44 | c.4181T>C (p.Leu1394Pro) c.43T>C c.1590T>C c.1886T>C (p.Leu629Pro) c.4313T>C (p.Leu1438Pro) c.4160T>C (p.Leu1387Pro) c.3941T>C (p.Leu1314Pro) c.3632T>C (p.Leu1211Pro) c.3281T>C (p.Leu1094Pro) n.4838T>C | |
| 3 | g.113327755A>T | CA353777809 | CFAP44 | c.4181T>A (p.Leu1394Gln) c.43T>A c.1590T>A c.1886T>A (p.Leu629Gln) c.4313T>A (p.Leu1438Gln) c.4160T>A (p.Leu1387Gln) c.3941T>A (p.Leu1314Gln) c.3632T>A (p.Leu1211Gln) c.3281T>A (p.Leu1094Gln) n.4838T>A | |
| 3 | g.113327756G>A | CA434930962 | CFAP44 | c.4180C>T (p.Leu1394=) c.42C>T c.1589C>T c.1885C>T (p.Leu629=) c.4312C>T (p.Leu1438=) c.4159C>T (p.Leu1387=) c.3940C>T (p.Leu1314=) c.3631C>T (p.Leu1211=) c.3280C>T (p.Leu1094=) n.4837C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327756G>C | CA353777811 | CFAP44 | c.4180C>G (p.Leu1394Val) c.42C>G c.1589C>G c.1885C>G (p.Leu629Val) c.4312C>G (p.Leu1438Val) c.4159C>G (p.Leu1387Val) c.3940C>G (p.Leu1314Val) c.3631C>G (p.Leu1211Val) c.3280C>G (p.Leu1094Val) n.4837C>G | |
| 3 | g.113327756G= | CA1394216565 | CFAP44 | c.4180C= (p.Leu1394=) c.42C= c.1589C= c.1885C= (p.Leu629=) c.4312C= (p.Leu1438=) c.4159C= (p.Leu1387=) c.3940C= (p.Leu1314=) c.3631C= (p.Leu1211=) c.3280C= (p.Leu1094=) n.4837C= | |
| 3 | g.113327756G>T | CA353777812 | CFAP44 | c.4180C>A (p.Leu1394Ile) c.42C>A c.1589C>A c.1885C>A (p.Leu629Ile) c.4312C>A (p.Leu1438Ile) c.4159C>A (p.Leu1387Ile) c.3940C>A (p.Leu1314Ile) c.3631C>A (p.Leu1211Ile) c.3280C>A (p.Leu1094Ile) n.4837C>A | |
| 3 | g.113327757T>A | CA353777813 | CFAP44 | c.4179A>T (p.Lys1393Asn) c.41A>T c.1588A>T c.1884A>T (p.Lys628Asn) c.4311A>T (p.Lys1437Asn) c.4158A>T (p.Lys1386Asn) c.3939A>T (p.Lys1313Asn) c.3630A>T (p.Lys1210Asn) c.3279A>T (p.Lys1093Asn) n.4836A>T | |
| 3 | g.113327757T>C | CA434930963 | CFAP44 | c.4179A>G (p.Lys1393=) c.41A>G c.1588A>G c.1884A>G (p.Lys628=) c.4311A>G (p.Lys1437=) c.4158A>G (p.Lys1386=) c.3939A>G (p.Lys1313=) c.3630A>G (p.Lys1210=) c.3279A>G (p.Lys1093=) n.4836A>G | |
| 3 | g.113327757T>G | CA353777814 | CFAP44 | c.4179A>C (p.Lys1393Asn) c.41A>C c.1588A>C c.1884A>C (p.Lys628Asn) c.4311A>C (p.Lys1437Asn) c.4158A>C (p.Lys1386Asn) c.3939A>C (p.Lys1313Asn) c.3630A>C (p.Lys1210Asn) c.3279A>C (p.Lys1093Asn) n.4836A>C | |
| 3 | g.113327758T>A | CA353777815 | CFAP44 | c.4178A>T (p.Lys1393Ile) c.40A>T c.1587A>T c.1883A>T (p.Lys628Ile) c.4310A>T (p.Lys1437Ile) c.4157A>T (p.Lys1386Ile) c.3938A>T (p.Lys1313Ile) c.3629A>T (p.Lys1210Ile) c.3278A>T (p.Lys1093Ile) n.4835A>T | |
| 3 | g.113327758T>C | CA353777816 | CFAP44 | c.4178A>G (p.Lys1393Arg) c.40A>G c.1587A>G c.1883A>G (p.Lys628Arg) c.4310A>G (p.Lys1437Arg) c.4157A>G (p.Lys1386Arg) c.3938A>G (p.Lys1313Arg) c.3629A>G (p.Lys1210Arg) c.3278A>G (p.Lys1093Arg) n.4835A>G | |
| 3 | g.113327758T>G | CA353777817 | CFAP44 | c.4178A>C (p.Lys1393Thr) c.40A>C c.1587A>C c.1883A>C (p.Lys628Thr) c.4310A>C (p.Lys1437Thr) c.4157A>C (p.Lys1386Thr) c.3938A>C (p.Lys1313Thr) c.3629A>C (p.Lys1210Thr) c.3278A>C (p.Lys1093Thr) n.4835A>C | |
| 3 | g.113327759T>A | CA353777818 | CFAP44 | c.4177A>T (p.Lys1393Ter) c.39A>T c.1586A>T c.1882A>T (p.Lys628Ter) c.4309A>T (p.Lys1437Ter) c.4156A>T (p.Lys1386Ter) c.3937A>T (p.Lys1313Ter) c.3628A>T (p.Lys1210Ter) c.3277A>T (p.Lys1093Ter) n.4834A>T | |
| 3 | g.113327759T>C | CA353777819 | CFAP44 | c.4177A>G (p.Lys1393Glu) c.39A>G c.1586A>G c.1882A>G (p.Lys628Glu) c.4309A>G (p.Lys1437Glu) c.4156A>G (p.Lys1386Glu) c.3937A>G (p.Lys1313Glu) c.3628A>G (p.Lys1210Glu) c.3277A>G (p.Lys1093Glu) n.4834A>G | |
| 3 | g.113327759T>G | CA353777820 | CFAP44 | c.4177A>C (p.Lys1393Gln) c.39A>C c.1586A>C c.1882A>C (p.Lys628Gln) c.4309A>C (p.Lys1437Gln) c.4156A>C (p.Lys1386Gln) c.3937A>C (p.Lys1313Gln) c.3628A>C (p.Lys1210Gln) c.3277A>C (p.Lys1093Gln) n.4834A>C | |
| 3 | g.113327760T>A | CA434930964 | CFAP44 | c.4176A>T (p.Leu1392=) c.38A>T c.1585A>T c.1881A>T (p.Leu627=) c.4308A>T (p.Leu1436=) c.4155A>T (p.Leu1385=) c.3936A>T (p.Leu1312=) c.3627A>T (p.Leu1209=) c.3276A>T (p.Leu1092=) n.4833A>T | |
| 3 | g.113327760T>C | CA2543654 | CFAP44 | c.4176A>G (p.Leu1392=) c.38A>G c.1585A>G c.1881A>G (p.Leu627=) c.4308A>G (p.Leu1436=) c.4155A>G (p.Leu1385=) c.3936A>G (p.Leu1312=) c.3627A>G (p.Leu1209=) c.3276A>G (p.Leu1092=) n.4833A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327760T>G | CA434930965 | CFAP44 | c.4176A>C (p.Leu1392=) c.38A>C c.1585A>C c.1881A>C (p.Leu627=) c.4308A>C (p.Leu1436=) c.4155A>C (p.Leu1385=) c.3936A>C (p.Leu1312=) c.3627A>C (p.Leu1209=) c.3276A>C (p.Leu1092=) n.4833A>C | |
| 3 | g.113327760T= | CA1394216574 | CFAP44 | c.4176A= (p.Leu1392=) c.38A= c.1585A= c.1881A= (p.Leu627=) c.4308A= (p.Leu1436=) c.4155A= (p.Leu1385=) c.3936A= (p.Leu1312=) c.3627A= (p.Leu1209=) c.3276A= (p.Leu1092=) n.4833A= | |
| 3 | g.113327761A>C | CA353777821 | CFAP44 | c.4175T>G (p.Leu1392Arg) c.37T>G c.1584T>G c.1880T>G (p.Leu627Arg) c.4307T>G (p.Leu1436Arg) c.4154T>G (p.Leu1385Arg) c.3935T>G (p.Leu1312Arg) c.3626T>G (p.Leu1209Arg) c.3275T>G (p.Leu1092Arg) n.4832T>G | |
| 3 | g.113327761A>G | CA353777822 | CFAP44 | c.4175T>C (p.Leu1392Pro) c.37T>C c.1584T>C c.1880T>C (p.Leu627Pro) c.4307T>C (p.Leu1436Pro) c.4154T>C (p.Leu1385Pro) c.3935T>C (p.Leu1312Pro) c.3626T>C (p.Leu1209Pro) c.3275T>C (p.Leu1092Pro) n.4832T>C | |
| 3 | g.113327761A>T | CA353777823 | CFAP44 | c.4175T>A (p.Leu1392Gln) c.37T>A c.1584T>A c.1880T>A (p.Leu627Gln) c.4307T>A (p.Leu1436Gln) c.4154T>A (p.Leu1385Gln) c.3935T>A (p.Leu1312Gln) c.3626T>A (p.Leu1209Gln) c.3275T>A (p.Leu1092Gln) n.4832T>A | |
| 3 | g.113327762G>A | CA434930966 | CFAP44 | c.4174C>T (p.Leu1392=) c.36C>T c.1583C>T c.1879C>T (p.Leu627=) c.4306C>T (p.Leu1436=) c.4153C>T (p.Leu1385=) c.3934C>T (p.Leu1312=) c.3625C>T (p.Leu1209=) c.3274C>T (p.Leu1092=) n.4831C>T | gnomAD v4 |
| 3 | g.113327762G>C | CA353777824 | CFAP44 | c.4174C>G (p.Leu1392Val) c.36C>G c.1583C>G c.1879C>G (p.Leu627Val) c.4306C>G (p.Leu1436Val) c.4153C>G (p.Leu1385Val) c.3934C>G (p.Leu1312Val) c.3625C>G (p.Leu1209Val) c.3274C>G (p.Leu1092Val) n.4831C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113327762G= | CA1394216580 | CFAP44 | c.4174C= (p.Leu1392=) c.36C= c.1583C= c.1879C= (p.Leu627=) c.4306C= (p.Leu1436=) c.4153C= (p.Leu1385=) c.3934C= (p.Leu1312=) c.3625C= (p.Leu1209=) c.3274C= (p.Leu1092=) n.4831C= | |
| 3 | g.113327762G>T | CA353777825 | CFAP44 | c.4174C>A (p.Leu1392Ile) c.36C>A c.1583C>A c.1879C>A (p.Leu627Ile) c.4306C>A (p.Leu1436Ile) c.4153C>A (p.Leu1385Ile) c.3934C>A (p.Leu1312Ile) c.3625C>A (p.Leu1209Ile) c.3274C>A (p.Leu1092Ile) n.4831C>A | |
| 3 | g.113327763T>A | CA353777826 | CFAP44 | c.4173A>T (p.Lys1391Asn) c.35A>T c.1582A>T c.1878A>T (p.Lys626Asn) c.4305A>T (p.Lys1435Asn) c.4152A>T (p.Lys1384Asn) c.3933A>T (p.Lys1311Asn) c.3624A>T (p.Lys1208Asn) c.3273A>T (p.Lys1091Asn) n.4830A>T | |
| 3 | g.113327763T>C | CA434930967 | CFAP44 | c.4173A>G (p.Lys1391=) c.35A>G c.1582A>G c.1878A>G (p.Lys626=) c.4305A>G (p.Lys1435=) c.4152A>G (p.Lys1384=) c.3933A>G (p.Lys1311=) c.3624A>G (p.Lys1208=) c.3273A>G (p.Lys1091=) n.4830A>G | |
| 3 | g.113327763T>G | CA353777827 | CFAP44 | c.4173A>C (p.Lys1391Asn) c.35A>C c.1582A>C c.1878A>C (p.Lys626Asn) c.4305A>C (p.Lys1435Asn) c.4152A>C (p.Lys1384Asn) c.3933A>C (p.Lys1311Asn) c.3624A>C (p.Lys1208Asn) c.3273A>C (p.Lys1091Asn) n.4830A>C | |
| 3 | g.113327765del | CA2577854668 | CFAP44 | c.4173del (p.Lys1391AsnfsTer2) c.35del c.1582del c.1878del (p.Lys626AsnfsTer2) c.4305del (p.Lys1435AsnfsTer2) c.4152del (p.Lys1384AsnfsTer2) c.3933del (p.Lys1311AsnfsTer2) c.3624del (p.Lys1208AsnfsTer2) c.3273del (p.Lys1091AsnfsTer2) n.4830del | gnomAD v4 |
| 3 | g.113327764T>A | CA353777828 | CFAP44 | c.4172A>T (p.Lys1391Ile) c.34A>T c.1581A>T c.1877A>T (p.Lys626Ile) c.4304A>T (p.Lys1435Ile) c.4151A>T (p.Lys1384Ile) c.3932A>T (p.Lys1311Ile) c.3623A>T (p.Lys1208Ile) c.3272A>T (p.Lys1091Ile) n.4829A>T | |
| 3 | g.113327764T>C | CA353777829 | CFAP44 | c.4172A>G (p.Lys1391Arg) c.34A>G c.1581A>G c.1877A>G (p.Lys626Arg) c.4304A>G (p.Lys1435Arg) c.4151A>G (p.Lys1384Arg) c.3932A>G (p.Lys1311Arg) c.3623A>G (p.Lys1208Arg) c.3272A>G (p.Lys1091Arg) n.4829A>G | |
| 3 | g.113327764T>G | CA353777830 | CFAP44 | c.4172A>C (p.Lys1391Thr) c.34A>C c.1581A>C c.1877A>C (p.Lys626Thr) c.4304A>C (p.Lys1435Thr) c.4151A>C (p.Lys1384Thr) c.3932A>C (p.Lys1311Thr) c.3623A>C (p.Lys1208Thr) c.3272A>C (p.Lys1091Thr) n.4829A>C | |
| 3 | g.113327765T>A | CA353777831 | CFAP44 | c.4171A>T (p.Lys1391Ter) c.33A>T c.1580A>T c.1876A>T (p.Lys626Ter) c.4303A>T (p.Lys1435Ter) c.4150A>T (p.Lys1384Ter) c.3931A>T (p.Lys1311Ter) c.3622A>T (p.Lys1208Ter) c.3271A>T (p.Lys1091Ter) n.4828A>T | |
| 3 | g.113327765T>C | CA353777832 | CFAP44 | c.4171A>G (p.Lys1391Glu) c.33A>G c.1580A>G c.1876A>G (p.Lys626Glu) c.4303A>G (p.Lys1435Glu) c.4150A>G (p.Lys1384Glu) c.3931A>G (p.Lys1311Glu) c.3622A>G (p.Lys1208Glu) c.3271A>G (p.Lys1091Glu) n.4828A>G | |
| 3 | g.113327765T>G | CA353777833 | CFAP44 | c.4171A>C (p.Lys1391Gln) c.33A>C c.1580A>C c.1876A>C (p.Lys626Gln) c.4303A>C (p.Lys1435Gln) c.4150A>C (p.Lys1384Gln) c.3931A>C (p.Lys1311Gln) c.3622A>C (p.Lys1208Gln) c.3271A>C (p.Lys1091Gln) n.4828A>C | |
| 3 | g.113327766C>A | CA353777834 | CFAP44 | c.4170G>T (p.Gln1390His) c.32G>T c.1579G>T c.1875G>T (p.Gln625His) c.4302G>T (p.Gln1434His) c.4149G>T (p.Gln1383His) c.3930G>T (p.Gln1310His) c.3621G>T (p.Gln1207His) c.3270G>T (p.Gln1090His) n.4827G>T | |
| 3 | g.113327766C>G | CA353777835 | CFAP44 | c.4170G>C (p.Gln1390His) c.32G>C c.1579G>C c.1875G>C (p.Gln625His) c.4302G>C (p.Gln1434His) c.4149G>C (p.Gln1383His) c.3930G>C (p.Gln1310His) c.3621G>C (p.Gln1207His) c.3270G>C (p.Gln1090His) n.4827G>C | gnomAD v4 |
| 3 | g.113327766C>T | CA434930968 | CFAP44 | c.4170G>A (p.Gln1390=) c.32G>A c.1579G>A c.1875G>A (p.Gln625=) c.4302G>A (p.Gln1434=) c.4149G>A (p.Gln1383=) c.3930G>A (p.Gln1310=) c.3621G>A (p.Gln1207=) c.3270G>A (p.Gln1090=) n.4827G>A | |
| 3 | g.113327766_113327767delinsCT | CA1394216585 | CFAP44 | c.4169_4170delinsAG (p.Gln1390=) c.31_32delinsAG c.1578_1579delinsAG c.1874_1875delinsAG (p.Gln625=) c.4301_4302delinsAG (p.Gln1434=) c.4148_4149delinsAG (p.Gln1383=) c.3929_3930delinsAG (p.Gln1310=) c.3620_3621delinsAG (p.Gln1207=) c.3269_3270delinsAG (p.Gln1090=) n.4826_4827delinsAG | |
| 3 | g.113327767del | CA1394216594 | CFAP44 | c.4169del (p.Gln1390ArgfsTer3) c.31del c.1578del c.1874del (p.Gln625ArgfsTer3) c.4301del (p.Gln1434ArgfsTer3) c.4148del (p.Gln1383ArgfsTer3) c.3929del (p.Gln1310ArgfsTer3) c.3620del (p.Gln1207ArgfsTer3) c.3269del (p.Gln1090ArgfsTer3) n.4826del | dbSNP |
| 3 | g.113327767T>A | CA353777837 | CFAP44 | c.4169A>T (p.Gln1390Leu) c.31A>T c.1578A>T c.1874A>T (p.Gln625Leu) c.4301A>T (p.Gln1434Leu) c.4148A>T (p.Gln1383Leu) c.3929A>T (p.Gln1310Leu) c.3620A>T (p.Gln1207Leu) c.3269A>T (p.Gln1090Leu) n.4826A>T | |
| 3 | g.113327767T>C | CA353777838 | CFAP44 | c.4169A>G (p.Gln1390Arg) c.31A>G c.1578A>G c.1874A>G (p.Gln625Arg) c.4301A>G (p.Gln1434Arg) c.4148A>G (p.Gln1383Arg) c.3929A>G (p.Gln1310Arg) c.3620A>G (p.Gln1207Arg) c.3269A>G (p.Gln1090Arg) n.4826A>G | dbSNP |
| 3 | g.113327767T>G | CA353777836 | CFAP44 | c.4169A>C (p.Gln1390Pro) c.31A>C c.1578A>C c.1874A>C (p.Gln625Pro) c.4301A>C (p.Gln1434Pro) c.4148A>C (p.Gln1383Pro) c.3929A>C (p.Gln1310Pro) c.3620A>C (p.Gln1207Pro) c.3269A>C (p.Gln1090Pro) n.4826A>C | |
| 3 | g.113327767T= | CA1394216595 | CFAP44 | c.4169A= (p.Gln1390=) c.31A= c.1578A= c.1874A= (p.Gln625=) c.4301A= (p.Gln1434=) c.4148A= (p.Gln1383=) c.3929A= (p.Gln1310=) c.3620A= (p.Gln1207=) c.3269A= (p.Gln1090=) n.4826A= | |
| 3 | g.113327768G>A | CA353777839 | CFAP44 | c.4168C>T (p.Gln1390Ter) c.30C>T c.1577C>T c.1873C>T (p.Gln625Ter) c.4300C>T (p.Gln1434Ter) c.4147C>T (p.Gln1383Ter) c.3928C>T (p.Gln1310Ter) c.3619C>T (p.Gln1207Ter) c.3268C>T (p.Gln1090Ter) n.4825C>T | |
| 3 | g.113327768G>C | CA353777840 | CFAP44 | c.4168C>G (p.Gln1390Glu) c.30C>G c.1577C>G c.1873C>G (p.Gln625Glu) c.4300C>G (p.Gln1434Glu) c.4147C>G (p.Gln1383Glu) c.3928C>G (p.Gln1310Glu) c.3619C>G (p.Gln1207Glu) c.3268C>G (p.Gln1090Glu) n.4825C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.113327768G= | CA1394216604 | CFAP44 | c.4168C= (p.Gln1390=) c.30C= c.1577C= c.1873C= (p.Gln625=) c.4300C= (p.Gln1434=) c.4147C= (p.Gln1383=) c.3928C= (p.Gln1310=) c.3619C= (p.Gln1207=) c.3268C= (p.Gln1090=) n.4825C= | |
| 3 | g.113327768G>T | CA353777841 | CFAP44 | c.4168C>A (p.Gln1390Lys) c.30C>A c.1577C>A c.1873C>A (p.Gln625Lys) c.4300C>A (p.Gln1434Lys) c.4147C>A (p.Gln1383Lys) c.3928C>A (p.Gln1310Lys) c.3619C>A (p.Gln1207Lys) c.3268C>A (p.Gln1090Lys) n.4825C>A | |
| 3 | g.113327769A>C | CA353777842 | CFAP44 | c.4167T>G (p.His1389Gln) c.29T>G c.1576T>G c.1872T>G (p.His624Gln) c.4299T>G (p.His1433Gln) c.4146T>G (p.His1382Gln) c.3927T>G (p.His1309Gln) c.3618T>G (p.His1206Gln) c.3267T>G (p.His1089Gln) n.4824T>G | |
| 3 | g.113327769A>G | CA434930969 | CFAP44 | c.4167T>C (p.His1389=) c.29T>C c.1576T>C c.1872T>C (p.His624=) c.4299T>C (p.His1433=) c.4146T>C (p.His1382=) c.3927T>C (p.His1309=) c.3618T>C (p.His1206=) c.3267T>C (p.His1089=) n.4824T>C | |
| 3 | g.113327769A>T | CA353777843 | CFAP44 | c.4167T>A (p.His1389Gln) c.29T>A c.1576T>A c.1872T>A (p.His624Gln) c.4299T>A (p.His1433Gln) c.4146T>A (p.His1382Gln) c.3927T>A (p.His1309Gln) c.3618T>A (p.His1206Gln) c.3267T>A (p.His1089Gln) n.4824T>A | |
| 3 | g.113327770T>A | CA353777845 | CFAP44 | c.4166A>T (p.His1389Leu) c.28A>T c.1575A>T c.1871A>T (p.His624Leu) c.4298A>T (p.His1433Leu) c.4145A>T (p.His1382Leu) c.3926A>T (p.His1309Leu) c.3617A>T (p.His1206Leu) c.3266A>T (p.His1089Leu) n.4823A>T | |
| 3 | g.113327770T>C | CA2543655 | CFAP44 | c.4166A>G (p.His1389Arg) c.28A>G c.1575A>G c.1871A>G (p.His624Arg) c.4298A>G (p.His1433Arg) c.4145A>G (p.His1382Arg) c.3926A>G (p.His1309Arg) c.3617A>G (p.His1206Arg) c.3266A>G (p.His1089Arg) n.4823A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327770T>G | CA353777844 | CFAP44 | c.4166A>C (p.His1389Pro) c.28A>C c.1575A>C c.1871A>C (p.His624Pro) c.4298A>C (p.His1433Pro) c.4145A>C (p.His1382Pro) c.3926A>C (p.His1309Pro) c.3617A>C (p.His1206Pro) c.3266A>C (p.His1089Pro) n.4823A>C | |
| 3 | g.113327770T= | CA1394216615 | CFAP44 | c.4166A= (p.His1389=) c.28A= c.1575A= c.1871A= (p.His624=) c.4298A= (p.His1433=) c.4145A= (p.His1382=) c.3926A= (p.His1309=) c.3617A= (p.His1206=) c.3266A= (p.His1089=) n.4823A= | |
| 3 | g.113327771G>A | CA81542572 | CFAP44 | c.4165C>T (p.His1389Tyr) c.27C>T c.1574C>T c.1870C>T (p.His624Tyr) c.4297C>T (p.His1433Tyr) c.4144C>T (p.His1382Tyr) c.3925C>T (p.His1309Tyr) c.3616C>T (p.His1206Tyr) c.3265C>T (p.His1089Tyr) n.4822C>T | dbSNP gnomAD v4 |
| 3 | g.113327771G>C | CA353777846 | CFAP44 | c.4165C>G (p.His1389Asp) c.27C>G c.1574C>G c.1870C>G (p.His624Asp) c.4297C>G (p.His1433Asp) c.4144C>G (p.His1382Asp) c.3925C>G (p.His1309Asp) c.3616C>G (p.His1206Asp) c.3265C>G (p.His1089Asp) n.4822C>G | |
| 3 | g.113327771G= | CA1394216628 | CFAP44 | c.4165C= (p.His1389=) c.27C= c.1574C= c.1870C= (p.His624=) c.4297C= (p.His1433=) c.4144C= (p.His1382=) c.3925C= (p.His1309=) c.3616C= (p.His1206=) c.3265C= (p.His1089=) n.4822C= | |
| 3 | g.113327771G>T | CA353777847 | CFAP44 | c.4165C>A (p.His1389Asn) c.27C>A c.1574C>A c.1870C>A (p.His624Asn) c.4297C>A (p.His1433Asn) c.4144C>A (p.His1382Asn) c.3925C>A (p.His1309Asn) c.3616C>A (p.His1206Asn) c.3265C>A (p.His1089Asn) n.4822C>A | |
| 3 | g.113327772T>A | CA353777848 | CFAP44 | c.4164A>T (p.Arg1388Ser) c.26A>T c.1573A>T c.1869A>T (p.Arg623Ser) c.4296A>T (p.Arg1432Ser) c.4143A>T (p.Arg1381Ser) c.3924A>T (p.Arg1308Ser) c.3615A>T (p.Arg1205Ser) c.3264A>T (p.Arg1088Ser) n.4821A>T | |
| 3 | g.113327772T>C | CA434930970 | CFAP44 | c.4164A>G (p.Arg1388=) c.26A>G c.1573A>G c.1869A>G (p.Arg623=) c.4296A>G (p.Arg1432=) c.4143A>G (p.Arg1381=) c.3924A>G (p.Arg1308=) c.3615A>G (p.Arg1205=) c.3264A>G (p.Arg1088=) n.4821A>G | gnomAD v4 |
| 3 | g.113327772T>G | CA353777849 | CFAP44 | c.4164A>C (p.Arg1388Ser) c.26A>C c.1573A>C c.1869A>C (p.Arg623Ser) c.4296A>C (p.Arg1432Ser) c.4143A>C (p.Arg1381Ser) c.3924A>C (p.Arg1308Ser) c.3615A>C (p.Arg1205Ser) c.3264A>C (p.Arg1088Ser) n.4821A>C | |
| 3 | g.113327773C>A | CA353777850 | CFAP44 | c.4163G>T (p.Arg1388Ile) c.25G>T c.1572G>T c.1868G>T (p.Arg623Ile) c.4295G>T (p.Arg1432Ile) c.4142G>T (p.Arg1381Ile) c.3923G>T (p.Arg1308Ile) c.3614G>T (p.Arg1205Ile) c.3263G>T (p.Arg1088Ile) n.4820G>T | |
| 3 | g.113327773C= | CA1394216634 | CFAP44 | c.4163G= (p.Arg1388=) c.25G= c.1572G= c.1868G= (p.Arg623=) c.4295G= (p.Arg1432=) c.4142G= (p.Arg1381=) c.3923G= (p.Arg1308=) c.3614G= (p.Arg1205=) c.3263G= (p.Arg1088=) n.4820G= | |
| 3 | g.113327773C>G | CA353777852 | CFAP44 | c.4163G>C (p.Arg1388Thr) c.25G>C c.1572G>C c.1868G>C (p.Arg623Thr) c.4295G>C (p.Arg1432Thr) c.4142G>C (p.Arg1381Thr) c.3923G>C (p.Arg1308Thr) c.3614G>C (p.Arg1205Thr) c.3263G>C (p.Arg1088Thr) n.4820G>C | dbSNP |
| 3 | g.113327773C>T | CA353777851 | CFAP44 | c.4163G>A (p.Arg1388Lys) c.25G>A c.1572G>A c.1868G>A (p.Arg623Lys) c.4295G>A (p.Arg1432Lys) c.4142G>A (p.Arg1381Lys) c.3923G>A (p.Arg1308Lys) c.3614G>A (p.Arg1205Lys) c.3263G>A (p.Arg1088Lys) n.4820G>A | |
| 3 | g.113327774T>A | CA353777853 | CFAP44 | c.4162A>T (p.Arg1388Ter) c.24A>T c.1571A>T c.1867A>T (p.Arg623Ter) c.4294A>T (p.Arg1432Ter) c.4141A>T (p.Arg1381Ter) c.3922A>T (p.Arg1308Ter) c.3613A>T (p.Arg1205Ter) c.3262A>T (p.Arg1088Ter) n.4819A>T | |
| 3 | g.113327774T>C | CA353777854 | CFAP44 | c.4162A>G (p.Arg1388Gly) c.24A>G c.1571A>G c.1867A>G (p.Arg623Gly) c.4294A>G (p.Arg1432Gly) c.4141A>G (p.Arg1381Gly) c.3922A>G (p.Arg1308Gly) c.3613A>G (p.Arg1205Gly) c.3262A>G (p.Arg1088Gly) n.4819A>G | |
| 3 | g.113327774T>G | CA434930971 | CFAP44 | c.4162A>C (p.Arg1388=) c.24A>C c.1571A>C c.1867A>C (p.Arg623=) c.4294A>C (p.Arg1432=) c.4141A>C (p.Arg1381=) c.3922A>C (p.Arg1308=) c.3613A>C (p.Arg1205=) c.3262A>C (p.Arg1088=) n.4819A>C | |
| 3 | g.113327775A>C | CA434930972 | CFAP44 | c.4161T>G (p.Leu1387=) c.23T>G c.1570T>G c.1866T>G (p.Leu622=) c.4293T>G (p.Leu1431=) c.4140T>G (p.Leu1380=) c.3921T>G (p.Leu1307=) c.3612T>G (p.Leu1204=) c.3261T>G (p.Leu1087=) n.4818T>G | |
| 3 | g.113327775A>G | CA434930974 | CFAP44 | c.4161T>C (p.Leu1387=) c.23T>C c.1570T>C c.1866T>C (p.Leu622=) c.4293T>C (p.Leu1431=) c.4140T>C (p.Leu1380=) c.3921T>C (p.Leu1307=) c.3612T>C (p.Leu1204=) c.3261T>C (p.Leu1087=) n.4818T>C | |
| 3 | g.113327775A>T | CA434930973 | CFAP44 | c.4161T>A (p.Leu1387=) c.23T>A c.1570T>A c.1866T>A (p.Leu622=) c.4293T>A (p.Leu1431=) c.4140T>A (p.Leu1380=) c.3921T>A (p.Leu1307=) c.3612T>A (p.Leu1204=) c.3261T>A (p.Leu1087=) n.4818T>A | |
| 3 | g.113327776A= | CA1394216653 | CFAP44 | c.4160T= (p.Leu1387=) c.22T= c.1569T= c.1865T= (p.Leu622=) c.4292T= (p.Leu1431=) c.4139T= (p.Leu1380=) c.3920T= (p.Leu1307=) c.3611T= (p.Leu1204=) c.3260T= (p.Leu1087=) n.4817T= | |
| 3 | g.113327776A>C | CA353777855 | CFAP44 | c.4160T>G (p.Leu1387Arg) c.22T>G c.1569T>G c.1865T>G (p.Leu622Arg) c.4292T>G (p.Leu1431Arg) c.4139T>G (p.Leu1380Arg) c.3920T>G (p.Leu1307Arg) c.3611T>G (p.Leu1204Arg) c.3260T>G (p.Leu1087Arg) n.4817T>G | dbSNP gnomAD v4 |
| 3 | g.113327776A>G | CA353777856 | CFAP44 | c.4160T>C (p.Leu1387Pro) c.22T>C c.1569T>C c.1865T>C (p.Leu622Pro) c.4292T>C (p.Leu1431Pro) c.4139T>C (p.Leu1380Pro) c.3920T>C (p.Leu1307Pro) c.3611T>C (p.Leu1204Pro) c.3260T>C (p.Leu1087Pro) n.4817T>C | |
| 3 | g.113327776A>T | CA353777857 | CFAP44 | c.4160T>A (p.Leu1387His) c.22T>A c.1569T>A c.1865T>A (p.Leu622His) c.4292T>A (p.Leu1431His) c.4139T>A (p.Leu1380His) c.3920T>A (p.Leu1307His) c.3611T>A (p.Leu1204His) c.3260T>A (p.Leu1087His) n.4817T>A | |
| 3 | g.113327777G>A | CA353777858 | CFAP44 | c.4159C>T (p.Leu1387Phe) c.21C>T c.1568C>T c.1864C>T (p.Leu622Phe) c.4291C>T (p.Leu1431Phe) c.4138C>T (p.Leu1380Phe) c.3919C>T (p.Leu1307Phe) c.3610C>T (p.Leu1204Phe) c.3259C>T (p.Leu1087Phe) n.4816C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327777G>C | CA353777859 | CFAP44 | c.4159C>G (p.Leu1387Val) c.21C>G c.1568C>G c.1864C>G (p.Leu622Val) c.4291C>G (p.Leu1431Val) c.4138C>G (p.Leu1380Val) c.3919C>G (p.Leu1307Val) c.3610C>G (p.Leu1204Val) c.3259C>G (p.Leu1087Val) n.4816C>G | |
| 3 | g.113327777G= | CA1394216662 | CFAP44 | c.4159C= (p.Leu1387=) c.21C= c.1568C= c.1864C= (p.Leu622=) c.4291C= (p.Leu1431=) c.4138C= (p.Leu1380=) c.3919C= (p.Leu1307=) c.3610C= (p.Leu1204=) c.3259C= (p.Leu1087=) n.4816C= | |
| 3 | g.113327777G>T | CA353777860 | CFAP44 | c.4159C>A (p.Leu1387Ile) c.21C>A c.1568C>A c.1864C>A (p.Leu622Ile) c.4291C>A (p.Leu1431Ile) c.4138C>A (p.Leu1380Ile) c.3919C>A (p.Leu1307Ile) c.3610C>A (p.Leu1204Ile) c.3259C>A (p.Leu1087Ile) n.4816C>A | |
| 3 | g.113327778G>A | CA2543656 | CFAP44 | c.4158C>T (p.Leu1386=) c.20C>T c.1567C>T c.1863C>T (p.Leu621=) c.4290C>T (p.Leu1430=) c.4137C>T (p.Leu1379=) c.3918C>T (p.Leu1306=) c.3609C>T (p.Leu1203=) c.3258C>T (p.Leu1086=) n.4815C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327778G>C | CA81542579 | CFAP44 | c.4158C>G (p.Leu1386=) c.20C>G c.1567C>G c.1863C>G (p.Leu621=) c.4290C>G (p.Leu1430=) c.4137C>G (p.Leu1379=) c.3918C>G (p.Leu1306=) c.3609C>G (p.Leu1203=) c.3258C>G (p.Leu1086=) n.4815C>G | dbSNP |
| 3 | g.113327778G= | CA1394216669 | CFAP44 | c.4158C= (p.Leu1386=) c.20C= c.1567C= c.1863C= (p.Leu621=) c.4290C= (p.Leu1430=) c.4137C= (p.Leu1379=) c.3918C= (p.Leu1306=) c.3609C= (p.Leu1203=) c.3258C= (p.Leu1086=) n.4815C= | |
| 3 | g.113327778G>T | CA434930975 | CFAP44 | c.4158C>A (p.Leu1386=) c.20C>A c.1567C>A c.1863C>A (p.Leu621=) c.4290C>A (p.Leu1430=) c.4137C>A (p.Leu1379=) c.3918C>A (p.Leu1306=) c.3609C>A (p.Leu1203=) c.3258C>A (p.Leu1086=) n.4815C>A | |
| 3 | g.113327779A>C | CA353777861 | CFAP44 | c.4157T>G (p.Leu1386Arg) c.19T>G c.1566T>G c.1862T>G (p.Leu621Arg) c.4289T>G (p.Leu1430Arg) c.4136T>G (p.Leu1379Arg) c.3917T>G (p.Leu1306Arg) c.3608T>G (p.Leu1203Arg) c.3257T>G (p.Leu1086Arg) n.4814T>G | |
| 3 | g.113327779A>G | CA353777862 | CFAP44 | c.4157T>C (p.Leu1386Pro) c.19T>C c.1566T>C c.1862T>C (p.Leu621Pro) c.4289T>C (p.Leu1430Pro) c.4136T>C (p.Leu1379Pro) c.3917T>C (p.Leu1306Pro) c.3608T>C (p.Leu1203Pro) c.3257T>C (p.Leu1086Pro) n.4814T>C | |
| 3 | g.113327779A>T | CA353777863 | CFAP44 | c.4157T>A (p.Leu1386His) c.19T>A c.1566T>A c.1862T>A (p.Leu621His) c.4289T>A (p.Leu1430His) c.4136T>A (p.Leu1379His) c.3917T>A (p.Leu1306His) c.3608T>A (p.Leu1203His) c.3257T>A (p.Leu1086His) n.4814T>A | |
| 3 | g.113327780G>A | CA353777865 | CFAP44 | c.4156C>T (p.Leu1386Phe) c.18C>T c.1565C>T c.1861C>T (p.Leu621Phe) c.4288C>T (p.Leu1430Phe) c.4135C>T (p.Leu1379Phe) c.3916C>T (p.Leu1306Phe) c.3607C>T (p.Leu1203Phe) c.3256C>T (p.Leu1086Phe) n.4813C>T | |
| 3 | g.113327780G>C | CA353777866 | CFAP44 | c.4156C>G (p.Leu1386Val) c.18C>G c.1565C>G c.1861C>G (p.Leu621Val) c.4288C>G (p.Leu1430Val) c.4135C>G (p.Leu1379Val) c.3916C>G (p.Leu1306Val) c.3607C>G (p.Leu1203Val) c.3256C>G (p.Leu1086Val) n.4813C>G | |
| 3 | g.113327780G>T | CA353777864 | CFAP44 | c.4156C>A (p.Leu1386Ile) c.18C>A c.1565C>A c.1861C>A (p.Leu621Ile) c.4288C>A (p.Leu1430Ile) c.4135C>A (p.Leu1379Ile) c.3916C>A (p.Leu1306Ile) c.3607C>A (p.Leu1203Ile) c.3256C>A (p.Leu1086Ile) n.4813C>A | |
| 3 | g.113327781A>C | CA434930976 | CFAP44 | c.4155T>G (p.Arg1385=) c.17T>G c.1564T>G c.1860T>G (p.Arg620=) c.4287T>G (p.Arg1429=) c.4134T>G (p.Arg1378=) c.3915T>G (p.Arg1305=) c.3606T>G (p.Arg1202=) c.3255T>G (p.Arg1085=) n.4812T>G | |
| 3 | g.113327781A>G | CA434930978 | CFAP44 | c.4155T>C (p.Arg1385=) c.17T>C c.1564T>C c.1860T>C (p.Arg620=) c.4287T>C (p.Arg1429=) c.4134T>C (p.Arg1378=) c.3915T>C (p.Arg1305=) c.3606T>C (p.Arg1202=) c.3255T>C (p.Arg1085=) n.4812T>C | |
| 3 | g.113327781A>T | CA434930977 | CFAP44 | c.4155T>A (p.Arg1385=) c.17T>A c.1564T>A c.1860T>A (p.Arg620=) c.4287T>A (p.Arg1429=) c.4134T>A (p.Arg1378=) c.3915T>A (p.Arg1305=) c.3606T>A (p.Arg1202=) c.3255T>A (p.Arg1085=) n.4812T>A | |
| 3 | g.113327782C>A | CA353777868 | CFAP44 | c.4154G>T (p.Arg1385Leu) c.16G>T c.1563G>T c.1859G>T (p.Arg620Leu) c.4286G>T (p.Arg1429Leu) c.4133G>T (p.Arg1378Leu) c.3914G>T (p.Arg1305Leu) c.3605G>T (p.Arg1202Leu) c.3254G>T (p.Arg1085Leu) n.4811G>T | |
| 3 | g.113327782C= | CA1394216680 | CFAP44 | c.4154G= (p.Arg1385=) c.16G= c.1563G= c.1859G= (p.Arg620=) c.4286G= (p.Arg1429=) c.4133G= (p.Arg1378=) c.3914G= (p.Arg1305=) c.3605G= (p.Arg1202=) c.3254G= (p.Arg1085=) n.4811G= | |
| 3 | g.113327782C>G | CA353777867 | CFAP44 | c.4154G>C (p.Arg1385Pro) c.16G>C c.1563G>C c.1859G>C (p.Arg620Pro) c.4286G>C (p.Arg1429Pro) c.4133G>C (p.Arg1378Pro) c.3914G>C (p.Arg1305Pro) c.3605G>C (p.Arg1202Pro) c.3254G>C (p.Arg1085Pro) n.4811G>C | gnomAD v4 |
| 3 | g.113327782C>T | CA81542589 | CFAP44 | c.4154G>A (p.Arg1385His) c.16G>A c.1563G>A c.1859G>A (p.Arg620His) c.4286G>A (p.Arg1429His) c.4133G>A (p.Arg1378His) c.3914G>A (p.Arg1305His) c.3605G>A (p.Arg1202His) c.3254G>A (p.Arg1085His) n.4811G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327783G>A | CA81542599 | CFAP44 | c.4153C>T (p.Arg1385Cys) c.15C>T c.1562C>T c.1858C>T (p.Arg620Cys) c.4285C>T (p.Arg1429Cys) c.4132C>T (p.Arg1378Cys) c.3913C>T (p.Arg1305Cys) c.3604C>T (p.Arg1202Cys) c.3253C>T (p.Arg1085Cys) n.4810C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327783G>C | CA81542600 | CFAP44 | c.4153C>G (p.Arg1385Gly) c.15C>G c.1562C>G c.1858C>G (p.Arg620Gly) c.4285C>G (p.Arg1429Gly) c.4132C>G (p.Arg1378Gly) c.3913C>G (p.Arg1305Gly) c.3604C>G (p.Arg1202Gly) c.3253C>G (p.Arg1085Gly) n.4810C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327783G= | CA1394216689 | CFAP44 | c.4153C= (p.Arg1385=) c.15C= c.1562C= c.1858C= (p.Arg620=) c.4285C= (p.Arg1429=) c.4132C= (p.Arg1378=) c.3913C= (p.Arg1305=) c.3604C= (p.Arg1202=) c.3253C= (p.Arg1085=) n.4810C= | |
| 3 | g.113327783G>T | CA353777869 | CFAP44 | c.4153C>A (p.Arg1385Ser) c.15C>A c.1562C>A c.1858C>A (p.Arg620Ser) c.4285C>A (p.Arg1429Ser) c.4132C>A (p.Arg1378Ser) c.3913C>A (p.Arg1305Ser) c.3604C>A (p.Arg1202Ser) c.3253C>A (p.Arg1085Ser) n.4810C>A | |
| 3 | g.113327784G>A | CA434930979 | CFAP44 | c.4152C>T (p.Leu1384=) c.14C>T c.1561C>T c.1857C>T (p.Leu619=) c.4284C>T (p.Leu1428=) c.4131C>T (p.Leu1377=) c.3912C>T (p.Leu1304=) c.3603C>T (p.Leu1201=) c.3252C>T (p.Leu1084=) n.4809C>T | |
| 3 | g.113327784G>C | CA434930980 | CFAP44 | c.4152C>G (p.Leu1384=) c.14C>G c.1561C>G c.1857C>G (p.Leu619=) c.4284C>G (p.Leu1428=) c.4131C>G (p.Leu1377=) c.3912C>G (p.Leu1304=) c.3603C>G (p.Leu1201=) c.3252C>G (p.Leu1084=) n.4809C>G | |
| 3 | g.113327784G>T | CA434930981 | CFAP44 | c.4152C>A (p.Leu1384=) c.14C>A c.1561C>A c.1857C>A (p.Leu619=) c.4284C>A (p.Leu1428=) c.4131C>A (p.Leu1377=) c.3912C>A (p.Leu1304=) c.3603C>A (p.Leu1201=) c.3252C>A (p.Leu1084=) n.4809C>A | |
| 3 | g.113327785A>C | CA353777870 | CFAP44 | c.4151T>G (p.Leu1384Arg) c.13T>G c.1560T>G c.1856T>G (p.Leu619Arg) c.4283T>G (p.Leu1428Arg) c.4130T>G (p.Leu1377Arg) c.3911T>G (p.Leu1304Arg) c.3602T>G (p.Leu1201Arg) c.3251T>G (p.Leu1084Arg) n.4808T>G | |
| 3 | g.113327785A>G | CA353777871 | CFAP44 | c.4151T>C (p.Leu1384Pro) c.13T>C c.1560T>C c.1856T>C (p.Leu619Pro) c.4283T>C (p.Leu1428Pro) c.4130T>C (p.Leu1377Pro) c.3911T>C (p.Leu1304Pro) c.3602T>C (p.Leu1201Pro) c.3251T>C (p.Leu1084Pro) n.4808T>C | |
| 3 | g.113327785A>T | CA353777872 | CFAP44 | c.4151T>A (p.Leu1384His) c.13T>A c.1560T>A c.1856T>A (p.Leu619His) c.4283T>A (p.Leu1428His) c.4130T>A (p.Leu1377His) c.3911T>A (p.Leu1304His) c.3602T>A (p.Leu1201His) c.3251T>A (p.Leu1084His) n.4808T>A | |
| 3 | g.113327786G>A | CA353777873 | CFAP44 | c.4150C>T (p.Leu1384Phe) c.12C>T c.1559C>T c.1855C>T (p.Leu619Phe) c.4282C>T (p.Leu1428Phe) c.4129C>T (p.Leu1377Phe) c.3910C>T (p.Leu1304Phe) c.3601C>T (p.Leu1201Phe) c.3250C>T (p.Leu1084Phe) n.4807C>T | |
| 3 | g.113327786G>C | CA353777874 | CFAP44 | c.4150C>G (p.Leu1384Val) c.12C>G c.1559C>G c.1855C>G (p.Leu619Val) c.4282C>G (p.Leu1428Val) c.4129C>G (p.Leu1377Val) c.3910C>G (p.Leu1304Val) c.3601C>G (p.Leu1201Val) c.3250C>G (p.Leu1084Val) n.4807C>G | |
| 3 | g.113327786G>T | CA353777876 | CFAP44 | c.4150C>A (p.Leu1384Ile) c.12C>A c.1559C>A c.1855C>A (p.Leu619Ile) c.4282C>A (p.Leu1428Ile) c.4129C>A (p.Leu1377Ile) c.3910C>A (p.Leu1304Ile) c.3601C>A (p.Leu1201Ile) c.3250C>A (p.Leu1084Ile) n.4807C>A | |
| 3 | g.113327787T>A | CA353777883 | CFAP44 | c.4149A>T (p.Glu1383Asp) c.11A>T c.1558A>T c.1854A>T (p.Glu618Asp) c.4281A>T (p.Glu1427Asp) c.4128A>T (p.Glu1376Asp) c.3909A>T (p.Glu1303Asp) c.3600A>T (p.Glu1200Asp) c.3249A>T (p.Glu1083Asp) n.4806A>T | |
| 3 | g.113327787T>C | CA2543657 | CFAP44 | c.4149A>G (p.Glu1383=) c.11A>G c.1558A>G c.1854A>G (p.Glu618=) c.4281A>G (p.Glu1427=) c.4128A>G (p.Glu1376=) c.3909A>G (p.Glu1303=) c.3600A>G (p.Glu1200=) c.3249A>G (p.Glu1083=) n.4806A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327787T>G | CA353777880 | CFAP44 | c.4149A>C (p.Glu1383Asp) c.11A>C c.1558A>C c.1854A>C (p.Glu618Asp) c.4281A>C (p.Glu1427Asp) c.4128A>C (p.Glu1376Asp) c.3909A>C (p.Glu1303Asp) c.3600A>C (p.Glu1200Asp) c.3249A>C (p.Glu1083Asp) n.4806A>C | |
| 3 | g.113327787T= | CA1394216697 | CFAP44 | c.4149A= (p.Glu1383=) c.11A= c.1558A= c.1854A= (p.Glu618=) c.4281A= (p.Glu1427=) c.4128A= (p.Glu1376=) c.3909A= (p.Glu1303=) c.3600A= (p.Glu1200=) c.3249A= (p.Glu1083=) n.4806A= | |
| 3 | g.113327788T>A | CA353777885 | CFAP44 | c.4148A>T (p.Glu1383Val) c.10A>T c.1557A>T c.1853A>T (p.Glu618Val) c.4280A>T (p.Glu1427Val) c.4127A>T (p.Glu1376Val) c.3908A>T (p.Glu1303Val) c.3599A>T (p.Glu1200Val) c.3248A>T (p.Glu1083Val) n.4805A>T | |
| 3 | g.113327788T>C | CA353777886 | CFAP44 | c.4148A>G (p.Glu1383Gly) c.10A>G c.1557A>G c.1853A>G (p.Glu618Gly) c.4280A>G (p.Glu1427Gly) c.4127A>G (p.Glu1376Gly) c.3908A>G (p.Glu1303Gly) c.3599A>G (p.Glu1200Gly) c.3248A>G (p.Glu1083Gly) n.4805A>G | |
| 3 | g.113327788T>G | CA353777888 | CFAP44 | c.4148A>C (p.Glu1383Ala) c.10A>C c.1557A>C c.1853A>C (p.Glu618Ala) c.4280A>C (p.Glu1427Ala) c.4127A>C (p.Glu1376Ala) c.3908A>C (p.Glu1303Ala) c.3599A>C (p.Glu1200Ala) c.3248A>C (p.Glu1083Ala) n.4805A>C | |
| 3 | g.113327789C>A | CA353777891 | CFAP44 | c.4147G>T (p.Glu1383Ter) c.9G>T c.1556G>T c.1852G>T (p.Glu618Ter) c.4279G>T (p.Glu1427Ter) c.4126G>T (p.Glu1376Ter) c.3907G>T (p.Glu1303Ter) c.3598G>T (p.Glu1200Ter) c.3247G>T (p.Glu1083Ter) n.4804G>T | |
| 3 | g.113327789C>G | CA353777893 | CFAP44 | c.4147G>C (p.Glu1383Gln) c.9G>C c.1556G>C c.1852G>C (p.Glu618Gln) c.4279G>C (p.Glu1427Gln) c.4126G>C (p.Glu1376Gln) c.3907G>C (p.Glu1303Gln) c.3598G>C (p.Glu1200Gln) c.3247G>C (p.Glu1083Gln) n.4804G>C | |
| 3 | g.113327789C>T | CA353777895 | CFAP44 | c.4147G>A (p.Glu1383Lys) c.9G>A c.1556G>A c.1852G>A (p.Glu618Lys) c.4279G>A (p.Glu1427Lys) c.4126G>A (p.Glu1376Lys) c.3907G>A (p.Glu1303Lys) c.3598G>A (p.Glu1200Lys) c.3247G>A (p.Glu1083Lys) n.4804G>A | |
| 3 | g.113327790T>A | CA434930982 | CFAP44 | c.4146A>T (p.Ala1382=) c.8A>T c.1555A>T c.1851A>T (p.Ala617=) c.4278A>T (p.Ala1426=) c.4125A>T (p.Ala1375=) c.3906A>T (p.Ala1302=) c.3597A>T (p.Ala1199=) c.3246A>T (p.Ala1082=) n.4803A>T | |
| 3 | g.113327790T>C | CA434930983 | CFAP44 | c.4146A>G (p.Ala1382=) c.8A>G c.1555A>G c.1851A>G (p.Ala617=) c.4278A>G (p.Ala1426=) c.4125A>G (p.Ala1375=) c.3906A>G (p.Ala1302=) c.3597A>G (p.Ala1199=) c.3246A>G (p.Ala1082=) n.4803A>G | |
| 3 | g.113327790T>G | CA81542607 | CFAP44 | c.4146A>C (p.Ala1382=) c.8A>C c.1555A>C c.1851A>C (p.Ala617=) c.4278A>C (p.Ala1426=) c.4125A>C (p.Ala1375=) c.3906A>C (p.Ala1302=) c.3597A>C (p.Ala1199=) c.3246A>C (p.Ala1082=) n.4803A>C | dbSNP gnomAD v4 |
| 3 | g.113327790T= | CA1394216706 | CFAP44 | c.4146A= (p.Ala1382=) c.8A= c.1555A= c.1851A= (p.Ala617=) c.4278A= (p.Ala1426=) c.4125A= (p.Ala1375=) c.3906A= (p.Ala1302=) c.3597A= (p.Ala1199=) c.3246A= (p.Ala1082=) n.4803A= | |
| 3 | g.113327791G>A | CA353777900 | CFAP44 | c.4145C>T (p.Ala1382Val) c.7C>T c.1554C>T c.1850C>T (p.Ala617Val) c.4277C>T (p.Ala1426Val) c.4124C>T (p.Ala1375Val) c.3905C>T (p.Ala1302Val) c.3596C>T (p.Ala1199Val) c.3245C>T (p.Ala1082Val) n.4802C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113327791G>C | CA353777902 | CFAP44 | c.4145C>G (p.Ala1382Gly) c.7C>G c.1554C>G c.1850C>G (p.Ala617Gly) c.4277C>G (p.Ala1426Gly) c.4124C>G (p.Ala1375Gly) c.3905C>G (p.Ala1302Gly) c.3596C>G (p.Ala1199Gly) c.3245C>G (p.Ala1082Gly) n.4802C>G | |
| 3 | g.113327791G= | CA1394216714 | CFAP44 | c.4145C= (p.Ala1382=) c.7C= c.1554C= c.1850C= (p.Ala617=) c.4277C= (p.Ala1426=) c.4124C= (p.Ala1375=) c.3905C= (p.Ala1302=) c.3596C= (p.Ala1199=) c.3245C= (p.Ala1082=) n.4802C= | |
| 3 | g.113327791G>T | CA353777904 | CFAP44 | c.4145C>A (p.Ala1382Glu) c.7C>A c.1554C>A c.1850C>A (p.Ala617Glu) c.4277C>A (p.Ala1426Glu) c.4124C>A (p.Ala1375Glu) c.3905C>A (p.Ala1302Glu) c.3596C>A (p.Ala1199Glu) c.3245C>A (p.Ala1082Glu) n.4802C>A | |
| 3 | g.113327792C>A | CA81542610 | CFAP44 | c.4144G>T (p.Ala1382Ser) c.6G>T c.1553G>T c.1849G>T (p.Ala617Ser) c.4276G>T (p.Ala1426Ser) c.4123G>T (p.Ala1375Ser) c.3904G>T (p.Ala1302Ser) c.3595G>T (p.Ala1199Ser) c.3244G>T (p.Ala1082Ser) n.4801G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327792C= | CA1394216723 | CFAP44 | c.4144G= (p.Ala1382=) c.6G= c.1553G= c.1849G= (p.Ala617=) c.4276G= (p.Ala1426=) c.4123G= (p.Ala1375=) c.3904G= (p.Ala1302=) c.3595G= (p.Ala1199=) c.3244G= (p.Ala1082=) n.4801G= | |
| 3 | g.113327792C>G | CA353777908 | CFAP44 | c.4144G>C (p.Ala1382Pro) c.6G>C c.1553G>C c.1849G>C (p.Ala617Pro) c.4276G>C (p.Ala1426Pro) c.4123G>C (p.Ala1375Pro) c.3904G>C (p.Ala1302Pro) c.3595G>C (p.Ala1199Pro) c.3244G>C (p.Ala1082Pro) n.4801G>C | |
| 3 | g.113327792C>T | CA81542611 | CFAP44 | c.4144G>A (p.Ala1382Thr) c.6G>A c.1553G>A c.1849G>A (p.Ala617Thr) c.4276G>A (p.Ala1426Thr) c.4123G>A (p.Ala1375Thr) c.3904G>A (p.Ala1302Thr) c.3595G>A (p.Ala1199Thr) c.3244G>A (p.Ala1082Thr) n.4801G>A | dbSNP gnomAD v4 |
| 3 | g.113327793A= | CA1394216729 | CFAP44 | c.4143T= (p.Asp1381=) c.5T= c.1552T= c.1848T= (p.Asp616=) c.4275T= (p.Asp1425=) c.4122T= (p.Asp1374=) c.3903T= (p.Asp1301=) c.3594T= (p.Asp1198=) c.3243T= (p.Asp1081=) n.4800T= | |
| 3 | g.113327793A>C | CA353777915 | CFAP44 | c.4143T>G (p.Asp1381Glu) c.5T>G c.1552T>G c.1848T>G (p.Asp616Glu) c.4275T>G (p.Asp1425Glu) c.4122T>G (p.Asp1374Glu) c.3903T>G (p.Asp1301Glu) c.3594T>G (p.Asp1198Glu) c.3243T>G (p.Asp1081Glu) n.4800T>G | |
| 3 | g.113327793A>G | CA2543658 | CFAP44 | c.4143T>C (p.Asp1381=) c.5T>C c.1552T>C c.1848T>C (p.Asp616=) c.4275T>C (p.Asp1425=) c.4122T>C (p.Asp1374=) c.3903T>C (p.Asp1301=) c.3594T>C (p.Asp1198=) c.3243T>C (p.Asp1081=) n.4800T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327793A>T | CA353777913 | CFAP44 | c.4143T>A (p.Asp1381Glu) c.5T>A c.1552T>A c.1848T>A (p.Asp616Glu) c.4275T>A (p.Asp1425Glu) c.4122T>A (p.Asp1374Glu) c.3903T>A (p.Asp1301Glu) c.3594T>A (p.Asp1198Glu) c.3243T>A (p.Asp1081Glu) n.4800T>A | |
| 3 | g.113327794T>A | CA353777919 | CFAP44 | c.4142A>T (p.Asp1381Val) c.4A>T c.1551A>T c.1847A>T (p.Asp616Val) c.4274A>T (p.Asp1425Val) c.4121A>T (p.Asp1374Val) c.3902A>T (p.Asp1301Val) c.3593A>T (p.Asp1198Val) c.3242A>T (p.Asp1081Val) n.4799A>T | |
| 3 | g.113327794T>C | CA353777921 | CFAP44 | c.4142A>G (p.Asp1381Gly) c.4A>G c.1551A>G c.1847A>G (p.Asp616Gly) c.4274A>G (p.Asp1425Gly) c.4121A>G (p.Asp1374Gly) c.3902A>G (p.Asp1301Gly) c.3593A>G (p.Asp1198Gly) c.3242A>G (p.Asp1081Gly) n.4799A>G | |
| 3 | g.113327794T>G | CA353777922 | CFAP44 | c.4142A>C (p.Asp1381Ala) c.4A>C c.1551A>C c.1847A>C (p.Asp616Ala) c.4274A>C (p.Asp1425Ala) c.4121A>C (p.Asp1374Ala) c.3902A>C (p.Asp1301Ala) c.3593A>C (p.Asp1198Ala) c.3242A>C (p.Asp1081Ala) n.4799A>C | |
| 3 | g.113327795C>A | CA353777924 | CFAP44 | c.4141G>T (p.Asp1381Tyr) c.3G>T c.1550G>T c.1846G>T (p.Asp616Tyr) c.4273G>T (p.Asp1425Tyr) c.4120G>T (p.Asp1374Tyr) c.3901G>T (p.Asp1301Tyr) c.3592G>T (p.Asp1198Tyr) c.3241G>T (p.Asp1081Tyr) n.4798G>T | |
| 3 | g.113327795C= | CA1394216735 | CFAP44 | c.4141G= (p.Asp1381=) c.3G= c.1550G= c.1846G= (p.Asp616=) c.4273G= (p.Asp1425=) c.4120G= (p.Asp1374=) c.3901G= (p.Asp1301=) c.3592G= (p.Asp1198=) c.3241G= (p.Asp1081=) n.4798G= | |
| 3 | g.113327795C>G | CA353777926 | CFAP44 | c.4141G>C (p.Asp1381His) c.3G>C c.1550G>C c.1846G>C (p.Asp616His) c.4273G>C (p.Asp1425His) c.4120G>C (p.Asp1374His) c.3901G>C (p.Asp1301His) c.3592G>C (p.Asp1198His) c.3241G>C (p.Asp1081His) n.4798G>C | |
| 3 | g.113327795C>T | CA353777927 | CFAP44 | c.4141G>A (p.Asp1381Asn) c.3G>A c.1550G>A c.1846G>A (p.Asp616Asn) c.4273G>A (p.Asp1425Asn) c.4120G>A (p.Asp1374Asn) c.3901G>A (p.Asp1301Asn) c.3592G>A (p.Asp1198Asn) c.3241G>A (p.Asp1081Asn) n.4798G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327796G>A | CA81542634 | CFAP44 | c.4140C>T (p.Phe1380=) c.2C>T c.1549C>T c.1845C>T (p.Phe615=) c.4272C>T (p.Phe1424=) c.4119C>T (p.Phe1373=) c.3900C>T (p.Phe1300=) c.3591C>T (p.Phe1197=) c.3240C>T (p.Phe1080=) n.4797C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.113327796G>C | CA2543659 | CFAP44 | c.4140C>G (p.Phe1380Leu) c.2C>G c.1549C>G c.1845C>G (p.Phe615Leu) c.4272C>G (p.Phe1424Leu) c.4119C>G (p.Phe1373Leu) c.3900C>G (p.Phe1300Leu) c.3591C>G (p.Phe1197Leu) c.3240C>G (p.Phe1080Leu) n.4797C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.113327796G= | CA1394216740 | CFAP44 | c.4140C= (p.Phe1380=) c.2C= c.1549C= c.1845C= (p.Phe615=) c.4272C= (p.Phe1424=) c.4119C= (p.Phe1373=) c.3900C= (p.Phe1300=) c.3591C= (p.Phe1197=) c.3240C= (p.Phe1080=) n.4797C= | |
| 3 | g.113327796G>T | CA353777933 | CFAP44 | c.4140C>A (p.Phe1380Leu) c.2C>A c.1549C>A c.1845C>A (p.Phe615Leu) c.4272C>A (p.Phe1424Leu) c.4119C>A (p.Phe1373Leu) c.3900C>A (p.Phe1300Leu) c.3591C>A (p.Phe1197Leu) c.3240C>A (p.Phe1080Leu) n.4797C>A | |
| 3 | g.113327797A>C | CA353777937 | CFAP44 | c.4139T>G (p.Phe1380Cys) c.1T>G c.1548T>G c.1844T>G (p.Phe615Cys) c.4271T>G (p.Phe1424Cys) c.4118T>G (p.Phe1373Cys) c.3899T>G (p.Phe1300Cys) c.3590T>G (p.Phe1197Cys) c.3239T>G (p.Phe1080Cys) n.4796T>G | gnomAD v4 |
| 3 | g.113327797A>G | CA353777939 | CFAP44 | c.4139T>C (p.Phe1380Ser) c.1T>C c.1548T>C c.1844T>C (p.Phe615Ser) c.4271T>C (p.Phe1424Ser) c.4118T>C (p.Phe1373Ser) c.3899T>C (p.Phe1300Ser) c.3590T>C (p.Phe1197Ser) c.3239T>C (p.Phe1080Ser) n.4796T>C | |
| 3 | g.113327797A>T | CA353777942 | CFAP44 | c.4139T>A (p.Phe1380Tyr) c.1T>A c.1548T>A c.1844T>A (p.Phe615Tyr) c.4271T>A (p.Phe1424Tyr) c.4118T>A (p.Phe1373Tyr) c.3899T>A (p.Phe1300Tyr) c.3590T>A (p.Phe1197Tyr) c.3239T>A (p.Phe1080Tyr) n.4796T>A | |
| 3 | g.113327798A>C | CA353777946 | CFAP44 | c.4138T>G (p.Phe1380Val) c.1547T>G c.1843T>G (p.Phe615Val) c.4270T>G (p.Phe1424Val) c.4117T>G (p.Phe1373Val) c.3898T>G (p.Phe1300Val) c.3589T>G (p.Phe1197Val) c.3238T>G (p.Phe1080Val) n.4795T>G | |
| 3 | g.113327798A>G | CA353777948 | CFAP44 | c.4138T>C (p.Phe1380Leu) c.1547T>C c.1843T>C (p.Phe615Leu) c.4270T>C (p.Phe1424Leu) c.4117T>C (p.Phe1373Leu) c.3898T>C (p.Phe1300Leu) c.3589T>C (p.Phe1197Leu) c.3238T>C (p.Phe1080Leu) n.4795T>C | |
| 3 | g.113327798A>T | CA353777944 | CFAP44 | c.4138T>A (p.Phe1380Ile) c.1547T>A c.1843T>A (p.Phe615Ile) c.4270T>A (p.Phe1424Ile) c.4117T>A (p.Phe1373Ile) c.3898T>A (p.Phe1300Ile) c.3589T>A (p.Phe1197Ile) c.3238T>A (p.Phe1080Ile) n.4795T>A | |
| 3 | g.113327799A>C | CA434930984 | CFAP44 | c.4137T>G (p.Thr1379=) c.1546T>G c.1842T>G (p.Thr614=) c.4269T>G (p.Thr1423=) c.4116T>G (p.Thr1372=) c.3897T>G (p.Thr1299=) c.3588T>G (p.Thr1196=) c.3237T>G (p.Thr1079=) n.4794T>G | |
| 3 | g.113327799A>G | CA434930985 | CFAP44 | c.4137T>C (p.Thr1379=) c.1546T>C c.1842T>C (p.Thr614=) c.4269T>C (p.Thr1423=) c.4116T>C (p.Thr1372=) c.3897T>C (p.Thr1299=) c.3588T>C (p.Thr1196=) c.3237T>C (p.Thr1079=) n.4794T>C | |
| 3 | g.113327799A>T | CA434930986 | CFAP44 | c.4137T>A (p.Thr1379=) c.1546T>A c.1842T>A (p.Thr614=) c.4269T>A (p.Thr1423=) c.4116T>A (p.Thr1372=) c.3897T>A (p.Thr1299=) c.3588T>A (p.Thr1196=) c.3237T>A (p.Thr1079=) n.4794T>A | |
| 3 | g.113327800G>A | CA353777952 | CFAP44 | c.4136C>T (p.Thr1379Ile) c.1545C>T c.1841C>T (p.Thr614Ile) c.4268C>T (p.Thr1423Ile) c.4115C>T (p.Thr1372Ile) c.3896C>T (p.Thr1299Ile) c.3587C>T (p.Thr1196Ile) c.3236C>T (p.Thr1079Ile) n.4793C>T | |
| 3 | g.113327800G>C | CA353777954 | CFAP44 | c.4136C>G (p.Thr1379Ser) c.1545C>G c.1841C>G (p.Thr614Ser) c.4268C>G (p.Thr1423Ser) c.4115C>G (p.Thr1372Ser) c.3896C>G (p.Thr1299Ser) c.3587C>G (p.Thr1196Ser) c.3236C>G (p.Thr1079Ser) n.4793C>G | gnomAD v4 |
| 3 | g.113327800G>T | CA353777956 | CFAP44 | c.4136C>A (p.Thr1379Asn) c.1545C>A c.1841C>A (p.Thr614Asn) c.4268C>A (p.Thr1423Asn) c.4115C>A (p.Thr1372Asn) c.3896C>A (p.Thr1299Asn) c.3587C>A (p.Thr1196Asn) c.3236C>A (p.Thr1079Asn) n.4793C>A | |
| 3 | g.113327801T>A | CA353777959 | CFAP44 | c.4135A>T (p.Thr1379Ser) c.1544A>T c.1840A>T (p.Thr614Ser) c.4267A>T (p.Thr1423Ser) c.4114A>T (p.Thr1372Ser) c.3895A>T (p.Thr1299Ser) c.3586A>T (p.Thr1196Ser) c.3235A>T (p.Thr1079Ser) n.4792A>T | |
| 3 | g.113327801T>C | CA353777961 | CFAP44 | c.4135A>G (p.Thr1379Ala) c.1544A>G c.1840A>G (p.Thr614Ala) c.4267A>G (p.Thr1423Ala) c.4114A>G (p.Thr1372Ala) c.3895A>G (p.Thr1299Ala) c.3586A>G (p.Thr1196Ala) c.3235A>G (p.Thr1079Ala) n.4792A>G | |
| 3 | g.113327801T>G | CA353777963 | CFAP44 | c.4135A>C (p.Thr1379Pro) c.1544A>C c.1840A>C (p.Thr614Pro) c.4267A>C (p.Thr1423Pro) c.4114A>C (p.Thr1372Pro) c.3895A>C (p.Thr1299Pro) c.3586A>C (p.Thr1196Pro) c.3235A>C (p.Thr1079Pro) n.4792A>C | |
| 3 | g.113327802G>A | CA434930987 | CFAP44 | c.4134C>T (p.Val1378=) c.1543C>T c.1839C>T (p.Val613=) c.4266C>T (p.Val1422=) c.4113C>T (p.Val1371=) c.3894C>T (p.Val1298=) c.3585C>T (p.Val1195=) c.3234C>T (p.Val1078=) n.4791C>T | |
| 3 | g.113327802G>C | CA434930989 | CFAP44 | c.4134C>G (p.Val1378=) c.1543C>G c.1839C>G (p.Val613=) c.4266C>G (p.Val1422=) c.4113C>G (p.Val1371=) c.3894C>G (p.Val1298=) c.3585C>G (p.Val1195=) c.3234C>G (p.Val1078=) n.4791C>G | |
| 3 | g.113327802G>T | CA434930988 | CFAP44 | c.4134C>A (p.Val1378=) c.1543C>A c.1839C>A (p.Val613=) c.4266C>A (p.Val1422=) c.4113C>A (p.Val1371=) c.3894C>A (p.Val1298=) c.3585C>A (p.Val1195=) c.3234C>A (p.Val1078=) n.4791C>A | gnomAD v4 |
| 3 | g.113327803A>C | CA353777970 | CFAP44 | c.4133T>G (p.Val1378Gly) c.1542T>G c.1838T>G (p.Val613Gly) c.4265T>G (p.Val1422Gly) c.4112T>G (p.Val1371Gly) c.3893T>G (p.Val1298Gly) c.3584T>G (p.Val1195Gly) c.3233T>G (p.Val1078Gly) n.4790T>G | |
| 3 | g.113327803A>G | CA353777966 | CFAP44 | c.4133T>C (p.Val1378Ala) c.1542T>C c.1838T>C (p.Val613Ala) c.4265T>C (p.Val1422Ala) c.4112T>C (p.Val1371Ala) c.3893T>C (p.Val1298Ala) c.3584T>C (p.Val1195Ala) c.3233T>C (p.Val1078Ala) n.4790T>C | |
| 3 | g.113327803A>T | CA353777968 | CFAP44 | c.4133T>A (p.Val1378Asp) c.1542T>A c.1838T>A (p.Val613Asp) c.4265T>A (p.Val1422Asp) c.4112T>A (p.Val1371Asp) c.3893T>A (p.Val1298Asp) c.3584T>A (p.Val1195Asp) c.3233T>A (p.Val1078Asp) n.4790T>A | |
| 3 | g.113327804C>A | CA353777974 | CFAP44 | c.4132G>T (p.Val1378Phe) c.1541G>T c.1837G>T (p.Val613Phe) c.4264G>T (p.Val1422Phe) c.4111G>T (p.Val1371Phe) c.3892G>T (p.Val1298Phe) c.3583G>T (p.Val1195Phe) c.3232G>T (p.Val1078Phe) n.4789G>T | |
| 3 | g.113327804C>G | CA353777976 | CFAP44 | c.4132G>C (p.Val1378Leu) c.1541G>C c.1837G>C (p.Val613Leu) c.4264G>C (p.Val1422Leu) c.4111G>C (p.Val1371Leu) c.3892G>C (p.Val1298Leu) c.3583G>C (p.Val1195Leu) c.3232G>C (p.Val1078Leu) n.4789G>C | |
| 3 | g.113327804C>T | CA353777978 | CFAP44 | c.4132G>A (p.Val1378Ile) c.1541G>A c.1837G>A (p.Val613Ile) c.4264G>A (p.Val1422Ile) c.4111G>A (p.Val1371Ile) c.3892G>A (p.Val1298Ile) c.3583G>A (p.Val1195Ile) c.3232G>A (p.Val1078Ile) n.4789G>A |