| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816323C>A | CA403488253 | TICAM1 | c.2055G>T (p.Gln685His) c.1557G>T (p.Gln519His) c.2013G>T (p.Gln671His) c.1920G>T (p.Gln640His) c.1413G>T (p.Gln471His) | gnomAD v4 |
| 19 | g.4816323C>G | CA403488251 | TICAM1 | c.2055G>C (p.Gln685His) c.1557G>C (p.Gln519His) c.2013G>C (p.Gln671His) c.1920G>C (p.Gln640His) c.1413G>C (p.Gln471His) | |
| 19 | g.4816323C>T | CA505173662 | TICAM1 | c.2055G>A (p.Gln685=) c.1557G>A (p.Gln519=) c.2013G>A (p.Gln671=) c.1920G>A (p.Gln640=) c.1413G>A (p.Gln471=) | |
| 19 | g.4816324T>A | CA403488255 | TICAM1 | c.2054A>T (p.Gln685Leu) c.1556A>T (p.Gln519Leu) c.2012A>T (p.Gln671Leu) c.1919A>T (p.Gln640Leu) c.1412A>T (p.Gln471Leu) | |
| 19 | g.4816324T>C | CA403488257 | TICAM1 | c.2054A>G (p.Gln685Arg) c.1556A>G (p.Gln519Arg) c.2012A>G (p.Gln671Arg) c.1919A>G (p.Gln640Arg) c.1412A>G (p.Gln471Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816324T>G | CA403488258 | TICAM1 | c.2054A>C (p.Gln685Pro) c.1556A>C (p.Gln519Pro) c.2012A>C (p.Gln671Pro) c.1919A>C (p.Gln640Pro) c.1412A>C (p.Gln471Pro) | |
| 19 | g.4816324T= | CA2319604819 | TICAM1 | c.2054A= (p.Gln685=) c.1556A= (p.Gln519=) c.2012A= (p.Gln671=) c.1919A= (p.Gln640=) c.1412A= (p.Gln471=) | |
| 19 | g.4816325G>A | CA403488260 | TICAM1 | c.2053C>T (p.Gln685Ter) c.1555C>T (p.Gln519Ter) c.2011C>T (p.Gln671Ter) c.1918C>T (p.Gln640Ter) c.1411C>T (p.Gln471Ter) | |
| 19 | g.4816325G>C | CA403488262 | TICAM1 | c.2053C>G (p.Gln685Glu) c.1555C>G (p.Gln519Glu) c.2011C>G (p.Gln671Glu) c.1918C>G (p.Gln640Glu) c.1411C>G (p.Gln471Glu) | |
| 19 | g.4816325G>T | CA403488264 | TICAM1 | c.2053C>A (p.Gln685Lys) c.1555C>A (p.Gln519Lys) c.2011C>A (p.Gln671Lys) c.1918C>A (p.Gln640Lys) c.1411C>A (p.Gln471Lys) | gnomAD v4 |
| 19 | g.4816326T>A | CA505173671 | TICAM1 | c.2052A>T (p.Ala684=) c.1554A>T (p.Ala518=) c.2010A>T (p.Ala670=) c.1917A>T (p.Ala639=) c.1410A>T (p.Ala470=) | |
| 19 | g.4816326T>C | CA505173672 | TICAM1 | c.2052A>G (p.Ala684=) c.1554A>G (p.Ala518=) c.2010A>G (p.Ala670=) c.1917A>G (p.Ala639=) c.1410A>G (p.Ala470=) | gnomAD v4 |
| 19 | g.4816326T>G | CA505173670 | TICAM1 | c.2052A>C (p.Ala684=) c.1554A>C (p.Ala518=) c.2010A>C (p.Ala670=) c.1917A>C (p.Ala639=) c.1410A>C (p.Ala470=) | |
| 19 | g.4816327G>A | CA403488266 | TICAM1 | c.2051C>T (p.Ala684Val) c.1553C>T (p.Ala518Val) c.2009C>T (p.Ala670Val) c.1916C>T (p.Ala639Val) c.1409C>T (p.Ala470Val) | gnomAD v4 |
| 19 | g.4816327G>C | CA403488268 | TICAM1 | c.2051C>G (p.Ala684Gly) c.1553C>G (p.Ala518Gly) c.2009C>G (p.Ala670Gly) c.1916C>G (p.Ala639Gly) c.1409C>G (p.Ala470Gly) | |
| 19 | g.4816327G>T | CA403488270 | TICAM1 | c.2051C>A (p.Ala684Glu) c.1553C>A (p.Ala518Glu) c.2009C>A (p.Ala670Glu) c.1916C>A (p.Ala639Glu) c.1409C>A (p.Ala470Glu) | gnomAD v4 |
| 19 | g.4816328C>A | CA403488272 | TICAM1 | c.2050G>T (p.Ala684Ser) c.1552G>T (p.Ala518Ser) c.2008G>T (p.Ala670Ser) c.1915G>T (p.Ala639Ser) c.1408G>T (p.Ala470Ser) | gnomAD v4 |
| 19 | g.4816328C= | CA2319604820 | TICAM1 | c.2050G= (p.Ala684=) c.1552G= (p.Ala518=) c.2008G= (p.Ala670=) c.1915G= (p.Ala639=) c.1408G= (p.Ala470=) | |
| 19 | g.4816328C>G | CA403488274 | TICAM1 | c.2050G>C (p.Ala684Pro) c.1552G>C (p.Ala518Pro) c.2008G>C (p.Ala670Pro) c.1915G>C (p.Ala639Pro) c.1408G>C (p.Ala470Pro) | |
| 19 | g.4816328C>T | CA9105002 | TICAM1 | c.2050G>A (p.Ala684Thr) c.1552G>A (p.Ala518Thr) c.2008G>A (p.Ala670Thr) c.1915G>A (p.Ala639Thr) c.1408G>A (p.Ala470Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.4816329G>A | CA9105003 | TICAM1 | c.2049C>T (p.His683=) c.1551C>T (p.His517=) c.2007C>T (p.His669=) c.1914C>T (p.His638=) c.1407C>T (p.His469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816329G>C | CA403488279 | TICAM1 | c.2049C>G (p.His683Gln) c.1551C>G (p.His517Gln) c.2007C>G (p.His669Gln) c.1914C>G (p.His638Gln) c.1407C>G (p.His469Gln) | gnomAD v4 |
| 19 | g.4816329G= | CA2319604821 | TICAM1 | c.2049C= (p.His683=) c.1551C= (p.His517=) c.2007C= (p.His669=) c.1914C= (p.His638=) c.1407C= (p.His469=) | |
| 19 | g.4816329G>T | CA403488277 | TICAM1 | c.2049C>A (p.His683Gln) c.1551C>A (p.His517Gln) c.2007C>A (p.His669Gln) c.1914C>A (p.His638Gln) c.1407C>A (p.His469Gln) | dbSNP gnomAD v2 |
| 19 | g.4816330T>A | CA403488282 | TICAM1 | c.2048A>T (p.His683Leu) c.1550A>T (p.His517Leu) c.2006A>T (p.His669Leu) c.1913A>T (p.His638Leu) c.1406A>T (p.His469Leu) | |
| 19 | g.4816330T>C | CA403488284 | TICAM1 | c.2048A>G (p.His683Arg) c.1550A>G (p.His517Arg) c.2006A>G (p.His669Arg) c.1913A>G (p.His638Arg) c.1406A>G (p.His469Arg) | |
| 19 | g.4816330T>G | CA403488286 | TICAM1 | c.2048A>C (p.His683Pro) c.1550A>C (p.His517Pro) c.2006A>C (p.His669Pro) c.1913A>C (p.His638Pro) c.1406A>C (p.His469Pro) | |
| 19 | g.4816331G>A | CA403488289 | TICAM1 | c.2047C>T (p.His683Tyr) c.1549C>T (p.His517Tyr) c.2005C>T (p.His669Tyr) c.1912C>T (p.His638Tyr) c.1405C>T (p.His469Tyr) | gnomAD v4 |
| 19 | g.4816331G>C | CA403488290 | TICAM1 | c.2047C>G (p.His683Asp) c.1549C>G (p.His517Asp) c.2005C>G (p.His669Asp) c.1912C>G (p.His638Asp) c.1405C>G (p.His469Asp) | |
| 19 | g.4816331G>T | CA403488293 | TICAM1 | c.2047C>A (p.His683Asn) c.1549C>A (p.His517Asn) c.2005C>A (p.His669Asn) c.1912C>A (p.His638Asn) c.1405C>A (p.His469Asn) | gnomAD v4 |
| 19 | g.4816332G>A | CA9105004 | TICAM1 | c.2046C>T (p.His682=) c.1548C>T (p.His516=) c.2004C>T (p.His668=) c.1911C>T (p.His637=) c.1404C>T (p.His468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816332G>C | CA403488296 | TICAM1 | c.2046C>G (p.His682Gln) c.1548C>G (p.His516Gln) c.2004C>G (p.His668Gln) c.1911C>G (p.His637Gln) c.1404C>G (p.His468Gln) | |
| 19 | g.4816332G= | CA2319604822 | TICAM1 | c.2046C= (p.His682=) c.1548C= (p.His516=) c.2004C= (p.His668=) c.1911C= (p.His637=) c.1404C= (p.His468=) | |
| 19 | g.4816332G>T | CA403488298 | TICAM1 | c.2046C>A (p.His682Gln) c.1548C>A (p.His516Gln) c.2004C>A (p.His668Gln) c.1911C>A (p.His637Gln) c.1404C>A (p.His468Gln) | gnomAD v4 |
| 19 | g.4816333T>A | CA403488300 | TICAM1 | c.2045A>T (p.His682Leu) c.1547A>T (p.His516Leu) c.2003A>T (p.His668Leu) c.1910A>T (p.His637Leu) c.1403A>T (p.His468Leu) | |
| 19 | g.4816333T>C | CA403488301 | TICAM1 | c.2045A>G (p.His682Arg) c.1547A>G (p.His516Arg) c.2003A>G (p.His668Arg) c.1910A>G (p.His637Arg) c.1403A>G (p.His468Arg) | |
| 19 | g.4816333T>G | CA403488302 | TICAM1 | c.2045A>C (p.His682Pro) c.1547A>C (p.His516Pro) c.2003A>C (p.His668Pro) c.1910A>C (p.His637Pro) c.1403A>C (p.His468Pro) | |
| 19 | g.4816334G>A | CA403488305 | TICAM1 | c.2044C>T (p.His682Tyr) c.1546C>T (p.His516Tyr) c.2002C>T (p.His668Tyr) c.1909C>T (p.His637Tyr) c.1402C>T (p.His468Tyr) | |
| 19 | g.4816334G>C | CA403488304 | TICAM1 | c.2044C>G (p.His682Asp) c.1546C>G (p.His516Asp) c.2002C>G (p.His668Asp) c.1909C>G (p.His637Asp) c.1402C>G (p.His468Asp) | |
| 19 | g.4816334G>T | CA403488303 | TICAM1 | c.2044C>A (p.His682Asn) c.1546C>A (p.His516Asn) c.2002C>A (p.His668Asn) c.1909C>A (p.His637Asn) c.1402C>A (p.His468Asn) | gnomAD v4 |
| 19 | g.4816335del | CA2586031820 | TICAM1 | c.2044del (p.His682ThrfsTer10) c.1546del (p.His516ThrfsTer10) c.2002del (p.His668ThrfsTer10) c.1909del (p.His637ThrfsTer10) c.1402del (p.His468ThrfsTer10) | gnomAD v4 |
| 19 | g.4816335G>A | CA505173694 | TICAM1 | c.2043C>T (p.Ile681=) c.1545C>T (p.Ile515=) c.2001C>T (p.Ile667=) c.1908C>T (p.Ile636=) c.1401C>T (p.Ile467=) | gnomAD v4 |
| 19 | g.4816335G>C | CA403488306 | TICAM1 | c.2043C>G (p.Ile681Met) c.1545C>G (p.Ile515Met) c.2001C>G (p.Ile667Met) c.1908C>G (p.Ile636Met) c.1401C>G (p.Ile467Met) | |
| 19 | g.4816335G>T | CA505173696 | TICAM1 | c.2043C>A (p.Ile681=) c.1545C>A (p.Ile515=) c.2001C>A (p.Ile667=) c.1908C>A (p.Ile636=) c.1401C>A (p.Ile467=) | gnomAD v4 |
| 19 | g.4816336A>C | CA403488307 | TICAM1 | c.2042T>G (p.Ile681Ser) c.1544T>G (p.Ile515Ser) c.2000T>G (p.Ile667Ser) c.1907T>G (p.Ile636Ser) c.1400T>G (p.Ile467Ser) | |
| 19 | g.4816336A>G | CA403488308 | TICAM1 | c.2042T>C (p.Ile681Thr) c.1544T>C (p.Ile515Thr) c.2000T>C (p.Ile667Thr) c.1907T>C (p.Ile636Thr) c.1400T>C (p.Ile467Thr) | gnomAD v4 |
| 19 | g.4816336A>T | CA403488309 | TICAM1 | c.2042T>A (p.Ile681Asn) c.1544T>A (p.Ile515Asn) c.2000T>A (p.Ile667Asn) c.1907T>A (p.Ile636Asn) c.1400T>A (p.Ile467Asn) | gnomAD v4 |
| 19 | g.4816337T>A | CA403488310 | TICAM1 | c.2041A>T (p.Ile681Phe) c.1543A>T (p.Ile515Phe) c.1999A>T (p.Ile667Phe) c.1906A>T (p.Ile636Phe) c.1399A>T (p.Ile467Phe) | |
| 19 | g.4816337T>C | CA403488311 | TICAM1 | c.2041A>G (p.Ile681Val) c.1543A>G (p.Ile515Val) c.1999A>G (p.Ile667Val) c.1906A>G (p.Ile636Val) c.1399A>G (p.Ile467Val) | gnomAD v4 |
| 19 | g.4816337T>G | CA403488312 | TICAM1 | c.2041A>C (p.Ile681Leu) c.1543A>C (p.Ile515Leu) c.1999A>C (p.Ile667Leu) c.1906A>C (p.Ile636Leu) c.1399A>C (p.Ile467Leu) | |
| 19 | g.4816337T= | CA2319604823 | TICAM1 | c.2041A= (p.Ile681=) c.1543A= (p.Ile515=) c.1999A= (p.Ile667=) c.1906A= (p.Ile636=) c.1399A= (p.Ile467=) | |
| 19 | g.4816337_4816338insC | CA9105005 | TICAM1 | c.2040_2041insG (p.Ile681AspfsTer?) c.1542_1543insG (p.Ile515AspfsTer?) c.1998_1999insG (p.Ile667AspfsTer?) c.1905_1906insG (p.Ile636AspfsTer?) c.1398_1399insG (p.Ile467AspfsTer?) | dbSNP ExAC |
| 19 | g.4816338A= | CA2319604824 | TICAM1 | c.2040T= (p.Ile680=) c.1542T= (p.Ile514=) c.1998T= (p.Ile666=) c.1905T= (p.Ile635=) c.1398T= (p.Ile466=) | |
| 19 | g.4816338A>C | CA403488313 | TICAM1 | c.2040T>G (p.Ile680Met) c.1542T>G (p.Ile514Met) c.1998T>G (p.Ile666Met) c.1905T>G (p.Ile635Met) c.1398T>G (p.Ile466Met) | |
| 19 | g.4816338A>G | CA505173702 | TICAM1 | c.2040T>C (p.Ile680=) c.1542T>C (p.Ile514=) c.1998T>C (p.Ile666=) c.1905T>C (p.Ile635=) c.1398T>C (p.Ile466=) | gnomAD v4 |
| 19 | g.4816338A>T | CA505173703 | TICAM1 | c.2040T>A (p.Ile680=) c.1542T>A (p.Ile514=) c.1998T>A (p.Ile666=) c.1905T>A (p.Ile635=) c.1398T>A (p.Ile466=) | |
| 19 | g.4816338_4816339insCTCACTCATTCACTCATTCATTCATTCACTCACTCGCTCACTC | CA9105006 | TICAM1 | c.2039_2040insGAGTGAGCGAGTGAGTGAATGAATGAATGAGTGAATGAGTGAG (p.Ile680MetfsTer8) c.1541_1542insGAGTGAGCGAGTGAGTGAATGAATGAATGAGTGAATGAGTGAG (p.Ile514MetfsTer8) c.1997_1998insGAGTGAGCGAGTGAGTGAATGAATGAATGAGTGAATGAGTGAG (p.Ile666MetfsTer8) c.1904_1905insGAGTGAGCGAGTGAGTGAATGAATGAATGAGTGAATGAGTGAG (p.Ile635MetfsTer8) c.1397_1398insGAGTGAGCGAGTGAGTGAATGAATGAATGAGTGAATGAGTGAG (p.Ile466MetfsTer8) | dbSNP ExAC |
| 19 | g.4816339A>C | CA403488314 | TICAM1 | c.2039T>G (p.Ile680Ser) c.1541T>G (p.Ile514Ser) c.1997T>G (p.Ile666Ser) c.1904T>G (p.Ile635Ser) c.1397T>G (p.Ile466Ser) | |
| 19 | g.4816339A>G | CA403488315 | TICAM1 | c.2039T>C (p.Ile680Thr) c.1541T>C (p.Ile514Thr) c.1997T>C (p.Ile666Thr) c.1904T>C (p.Ile635Thr) c.1397T>C (p.Ile466Thr) | |
| 19 | g.4816339A>T | CA403488316 | TICAM1 | c.2039T>A (p.Ile680Asn) c.1541T>A (p.Ile514Asn) c.1997T>A (p.Ile666Asn) c.1904T>A (p.Ile635Asn) c.1397T>A (p.Ile466Asn) | gnomAD v4 |
| 19 | g.4816340T>A | CA403488318 | TICAM1 | c.2038A>T (p.Ile680Phe) c.1540A>T (p.Ile514Phe) c.1996A>T (p.Ile666Phe) c.1903A>T (p.Ile635Phe) c.1396A>T (p.Ile466Phe) | gnomAD v4 |
| 19 | g.4816340T>C | CA403488319 | TICAM1 | c.2038A>G (p.Ile680Val) c.1540A>G (p.Ile514Val) c.1996A>G (p.Ile666Val) c.1903A>G (p.Ile635Val) c.1396A>G (p.Ile466Val) | gnomAD v4 |
| 19 | g.4816340T>G | CA403488317 | TICAM1 | c.2038A>C (p.Ile680Leu) c.1540A>C (p.Ile514Leu) c.1996A>C (p.Ile666Leu) c.1903A>C (p.Ile635Leu) c.1396A>C (p.Ile466Leu) | |
| 19 | g.4816341G>A | CA505173715 | TICAM1 | c.2037C>T (p.Leu679=) c.1539C>T (p.Leu513=) c.1995C>T (p.Leu665=) c.1902C>T (p.Leu634=) c.1395C>T (p.Leu465=) | gnomAD v4 |
| 19 | g.4816341G>C | CA505173714 | TICAM1 | c.2037C>G (p.Leu679=) c.1539C>G (p.Leu513=) c.1995C>G (p.Leu665=) c.1902C>G (p.Leu634=) c.1395C>G (p.Leu465=) | |
| 19 | g.4816341G>T | CA505173713 | TICAM1 | c.2037C>A (p.Leu679=) c.1539C>A (p.Leu513=) c.1995C>A (p.Leu665=) c.1902C>A (p.Leu634=) c.1395C>A (p.Leu465=) | gnomAD v4 |
| 19 | g.4816342A>C | CA403488321 | TICAM1 | c.2036T>G (p.Leu679Arg) c.1538T>G (p.Leu513Arg) c.1994T>G (p.Leu665Arg) c.1901T>G (p.Leu634Arg) c.1394T>G (p.Leu465Arg) | |
| 19 | g.4816342A>G | CA403488320 | TICAM1 | c.2036T>C (p.Leu679Pro) c.1538T>C (p.Leu513Pro) c.1994T>C (p.Leu665Pro) c.1901T>C (p.Leu634Pro) c.1394T>C (p.Leu465Pro) | gnomAD v4 |
| 19 | g.4816342A>T | CA403488322 | TICAM1 | c.2036T>A (p.Leu679His) c.1538T>A (p.Leu513His) c.1994T>A (p.Leu665His) c.1901T>A (p.Leu634His) c.1394T>A (p.Leu465His) | |
| 19 | g.4816343G>A | CA9105007 | TICAM1 | c.2035C>T (p.Leu679Phe) c.1537C>T (p.Leu513Phe) c.1993C>T (p.Leu665Phe) c.1900C>T (p.Leu634Phe) c.1393C>T (p.Leu465Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816343G>C | CA403488323 | TICAM1 | c.2035C>G (p.Leu679Val) c.1537C>G (p.Leu513Val) c.1993C>G (p.Leu665Val) c.1900C>G (p.Leu634Val) c.1393C>G (p.Leu465Val) | |
| 19 | g.4816343G= | CA2319604825 | TICAM1 | c.2035C= (p.Leu679=) c.1537C= (p.Leu513=) c.1993C= (p.Leu665=) c.1900C= (p.Leu634=) c.1393C= (p.Leu465=) | |
| 19 | g.4816343G>T | CA403488324 | TICAM1 | c.2035C>A (p.Leu679Ile) c.1537C>A (p.Leu513Ile) c.1993C>A (p.Leu665Ile) c.1900C>A (p.Leu634Ile) c.1393C>A (p.Leu465Ile) | gnomAD v4 |
| 19 | g.4816346del | CA2586031821 | TICAM1 | c.2035del (p.Leu679SerfsTer13) c.1537del (p.Leu513SerfsTer13) c.1993del (p.Leu665SerfsTer13) c.1900del (p.Leu634SerfsTer13) c.1393del (p.Leu465SerfsTer13) | gnomAD v4 |
| 19 | g.4816344G>A | CA9105008 | TICAM1 | c.2034C>T (p.Pro678=) c.1536C>T (p.Pro512=) c.1992C>T (p.Pro664=) c.1899C>T (p.Pro633=) c.1392C>T (p.Pro464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816344G>C | CA505173724 | TICAM1 | c.2034C>G (p.Pro678=) c.1536C>G (p.Pro512=) c.1992C>G (p.Pro664=) c.1899C>G (p.Pro633=) c.1392C>G (p.Pro464=) | |
| 19 | g.4816344G= | CA2319604826 | TICAM1 | c.2034C= (p.Pro678=) c.1536C= (p.Pro512=) c.1992C= (p.Pro664=) c.1899C= (p.Pro633=) c.1392C= (p.Pro464=) | |
| 19 | g.4816344G>T | CA505173725 | TICAM1 | c.2034C>A (p.Pro678=) c.1536C>A (p.Pro512=) c.1992C>A (p.Pro664=) c.1899C>A (p.Pro633=) c.1392C>A (p.Pro464=) | gnomAD v4 |
| 19 | g.4816345G>A | CA403488325 | TICAM1 | c.2033C>T (p.Pro678Leu) c.1535C>T (p.Pro512Leu) c.1991C>T (p.Pro664Leu) c.1898C>T (p.Pro633Leu) c.1391C>T (p.Pro464Leu) | gnomAD v4 |
| 19 | g.4816345G>C | CA403488326 | TICAM1 | c.2033C>G (p.Pro678Arg) c.1535C>G (p.Pro512Arg) c.1991C>G (p.Pro664Arg) c.1898C>G (p.Pro633Arg) c.1391C>G (p.Pro464Arg) | gnomAD v4 |
| 19 | g.4816345G>T | CA403488327 | TICAM1 | c.2033C>A (p.Pro678His) c.1535C>A (p.Pro512His) c.1991C>A (p.Pro664His) c.1898C>A (p.Pro633His) c.1391C>A (p.Pro464His) | |
| 19 | g.4816346G>A | CA403488328 | TICAM1 | c.2032C>T (p.Pro678Ser) c.1534C>T (p.Pro512Ser) c.1990C>T (p.Pro664Ser) c.1897C>T (p.Pro633Ser) c.1390C>T (p.Pro464Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816346G>C | CA403488329 | TICAM1 | c.2032C>G (p.Pro678Ala) c.1534C>G (p.Pro512Ala) c.1990C>G (p.Pro664Ala) c.1897C>G (p.Pro633Ala) c.1390C>G (p.Pro464Ala) | |
| 19 | g.4816346G= | CA2319604827 | TICAM1 | c.2032C= (p.Pro678=) c.1534C= (p.Pro512=) c.1990C= (p.Pro664=) c.1897C= (p.Pro633=) c.1390C= (p.Pro464=) | |
| 19 | g.4816346G>T | CA403488330 | TICAM1 | c.2032C>A (p.Pro678Thr) c.1534C>A (p.Pro512Thr) c.1990C>A (p.Pro664Thr) c.1897C>A (p.Pro633Thr) c.1390C>A (p.Pro464Thr) | gnomAD v4 |
| 19 | g.4816347T>A | CA403488331 | TICAM1 | c.2031A>T (p.Gln677His) c.1533A>T (p.Gln511His) c.1989A>T (p.Gln663His) c.1896A>T (p.Gln632His) c.1389A>T (p.Gln463His) | |
| 19 | g.4816347T>C | CA505173729 | TICAM1 | c.2031A>G (p.Gln677=) c.1533A>G (p.Gln511=) c.1989A>G (p.Gln663=) c.1896A>G (p.Gln632=) c.1389A>G (p.Gln463=) | gnomAD v4 |
| 19 | g.4816347T>G | CA403488332 | TICAM1 | c.2031A>C (p.Gln677His) c.1533A>C (p.Gln511His) c.1989A>C (p.Gln663His) c.1896A>C (p.Gln632His) c.1389A>C (p.Gln463His) | |
| 19 | g.4816348T>A | CA403488335 | TICAM1 | c.2030A>T (p.Gln677Leu) c.1532A>T (p.Gln511Leu) c.1988A>T (p.Gln663Leu) c.1895A>T (p.Gln632Leu) c.1388A>T (p.Gln463Leu) | |
| 19 | g.4816348T>C | CA403488333 | TICAM1 | c.2030A>G (p.Gln677Arg) c.1532A>G (p.Gln511Arg) c.1988A>G (p.Gln663Arg) c.1895A>G (p.Gln632Arg) c.1388A>G (p.Gln463Arg) | gnomAD v4 |
| 19 | g.4816348T>G | CA403488334 | TICAM1 | c.2030A>C (p.Gln677Pro) c.1532A>C (p.Gln511Pro) c.1988A>C (p.Gln663Pro) c.1895A>C (p.Gln632Pro) c.1388A>C (p.Gln463Pro) | |
| 19 | g.4816349G>A | CA403488336 | TICAM1 | c.2029C>T (p.Gln677Ter) c.1531C>T (p.Gln511Ter) c.1987C>T (p.Gln663Ter) c.1894C>T (p.Gln632Ter) c.1387C>T (p.Gln463Ter) | gnomAD v4 |
| 19 | g.4816349G>C | CA403488337 | TICAM1 | c.2029C>G (p.Gln677Glu) c.1531C>G (p.Gln511Glu) c.1987C>G (p.Gln663Glu) c.1894C>G (p.Gln632Glu) c.1387C>G (p.Gln463Glu) | gnomAD v4 |
| 19 | g.4816349G>T | CA403488338 | TICAM1 | c.2029C>A (p.Gln677Lys) c.1531C>A (p.Gln511Lys) c.1987C>A (p.Gln663Lys) c.1894C>A (p.Gln632Lys) c.1387C>A (p.Gln463Lys) | gnomAD v4 |
| 19 | g.4816350C>A | CA505173733 | TICAM1 | c.2028G>T (p.Leu676=) c.1530G>T (p.Leu510=) c.1986G>T (p.Leu662=) c.1893G>T (p.Leu631=) c.1386G>T (p.Leu462=) | gnomAD v4 |
| 19 | g.4816350C>G | CA505173734 | TICAM1 | c.2028G>C (p.Leu676=) c.1530G>C (p.Leu510=) c.1986G>C (p.Leu662=) c.1893G>C (p.Leu631=) c.1386G>C (p.Leu462=) | |
| 19 | g.4816350C>T | CA505173735 | TICAM1 | c.2028G>A (p.Leu676=) c.1530G>A (p.Leu510=) c.1986G>A (p.Leu662=) c.1893G>A (p.Leu631=) c.1386G>A (p.Leu462=) | gnomAD v4 |
| 19 | g.4816351A>C | CA403488339 | TICAM1 | c.2027T>G (p.Leu676Arg) c.1529T>G (p.Leu510Arg) c.1985T>G (p.Leu662Arg) c.1892T>G (p.Leu631Arg) c.1385T>G (p.Leu462Arg) | |
| 19 | g.4816351A>G | CA403488340 | TICAM1 | c.2027T>C (p.Leu676Pro) c.1529T>C (p.Leu510Pro) c.1985T>C (p.Leu662Pro) c.1892T>C (p.Leu631Pro) c.1385T>C (p.Leu462Pro) | gnomAD v4 |
| 19 | g.4816351A>T | CA403488341 | TICAM1 | c.2027T>A (p.Leu676Gln) c.1529T>A (p.Leu510Gln) c.1985T>A (p.Leu662Gln) c.1892T>A (p.Leu631Gln) c.1385T>A (p.Leu462Gln) | |
| 19 | g.4816352G>A | CA505173746 | TICAM1 | c.2026C>T (p.Leu676=) c.1528C>T (p.Leu510=) c.1984C>T (p.Leu662=) c.1891C>T (p.Leu631=) c.1384C>T (p.Leu462=) | gnomAD v4 |
| 19 | g.4816352G>C | CA403488342 | TICAM1 | c.2026C>G (p.Leu676Val) c.1528C>G (p.Leu510Val) c.1984C>G (p.Leu662Val) c.1891C>G (p.Leu631Val) c.1384C>G (p.Leu462Val) | |
| 19 | g.4816352G>T | CA403488343 | TICAM1 | c.2026C>A (p.Leu676Met) c.1528C>A (p.Leu510Met) c.1984C>A (p.Leu662Met) c.1891C>A (p.Leu631Met) c.1384C>A (p.Leu462Met) | gnomAD v4 |
| 19 | g.4816353C>A | CA505173747 | TICAM1 | c.2025G>T (p.Gly675=) c.1527G>T (p.Gly509=) c.1983G>T (p.Gly661=) c.1890G>T (p.Gly630=) c.1383G>T (p.Gly461=) | gnomAD v4 |
| 19 | g.4816353C>G | CA505173748 | TICAM1 | c.2025G>C (p.Gly675=) c.1527G>C (p.Gly509=) c.1983G>C (p.Gly661=) c.1890G>C (p.Gly630=) c.1383G>C (p.Gly461=) | |
| 19 | g.4816353C>T | CA505173750 | TICAM1 | c.2025G>A (p.Gly675=) c.1527G>A (p.Gly509=) c.1983G>A (p.Gly661=) c.1890G>A (p.Gly630=) c.1383G>A (p.Gly461=) | gnomAD v4 |
| 19 | g.4816354C>A | CA403488344 | TICAM1 | c.2024G>T (p.Gly675Val) c.1526G>T (p.Gly509Val) c.1982G>T (p.Gly661Val) c.1889G>T (p.Gly630Val) c.1382G>T (p.Gly461Val) | |
| 19 | g.4816354C>G | CA403488345 | TICAM1 | c.2024G>C (p.Gly675Ala) c.1526G>C (p.Gly509Ala) c.1982G>C (p.Gly661Ala) c.1889G>C (p.Gly630Ala) c.1382G>C (p.Gly461Ala) | |
| 19 | g.4816354C>T | CA403488346 | TICAM1 | c.2024G>A (p.Gly675Glu) c.1526G>A (p.Gly509Glu) c.1982G>A (p.Gly661Glu) c.1889G>A (p.Gly630Glu) c.1382G>A (p.Gly461Glu) | gnomAD v4 COSMIC |
| 19 | g.4816355C>A | CA403488348 | TICAM1 | c.2023G>T (p.Gly675Trp) c.1525G>T (p.Gly509Trp) c.1981G>T (p.Gly661Trp) c.1888G>T (p.Gly630Trp) c.1381G>T (p.Gly461Trp) | gnomAD v4 |
| 19 | g.4816355C>G | CA403488349 | TICAM1 | c.2023G>C (p.Gly675Arg) c.1525G>C (p.Gly509Arg) c.1981G>C (p.Gly661Arg) c.1888G>C (p.Gly630Arg) c.1381G>C (p.Gly461Arg) | |
| 19 | g.4816355C>T | CA403488347 | TICAM1 | c.2023G>A (p.Gly675Arg) c.1525G>A (p.Gly509Arg) c.1981G>A (p.Gly661Arg) c.1888G>A (p.Gly630Arg) c.1381G>A (p.Gly461Arg) | |
| 19 | g.4816356T>A | CA505173757 | TICAM1 | c.2022A>T (p.Pro674=) c.1524A>T (p.Pro508=) c.1980A>T (p.Pro660=) c.1887A>T (p.Pro629=) c.1380A>T (p.Pro460=) | gnomAD v4 |
| 19 | g.4816356T>C | CA505173760 | TICAM1 | c.2022A>G (p.Pro674=) c.1524A>G (p.Pro508=) c.1980A>G (p.Pro660=) c.1887A>G (p.Pro629=) c.1380A>G (p.Pro460=) | gnomAD v4 |
| 19 | g.4816356T>G | CA505173761 | TICAM1 | c.2022A>C (p.Pro674=) c.1524A>C (p.Pro508=) c.1980A>C (p.Pro660=) c.1887A>C (p.Pro629=) c.1380A>C (p.Pro460=) | |
| 19 | g.4816356_4816357delinsTG | CA2319604828 | TICAM1 | c.2021_2022delinsCA (p.Pro674=) c.1523_1524delinsCA (p.Pro508=) c.1979_1980delinsCA (p.Pro660=) c.1886_1887delinsCA (p.Pro629=) c.1379_1380delinsCA (p.Pro460=) | |
| 19 | g.4816357G>A | CA9105009 | TICAM1 | c.2021C>T (p.Pro674Leu) c.1523C>T (p.Pro508Leu) c.1979C>T (p.Pro660Leu) c.1886C>T (p.Pro629Leu) c.1379C>T (p.Pro460Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816357G>C | CA9105010 | TICAM1 | c.2021C>G (p.Pro674Arg) c.1523C>G (p.Pro508Arg) c.1979C>G (p.Pro660Arg) c.1886C>G (p.Pro629Arg) c.1379C>G (p.Pro460Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816357G= | CA2319604829 | TICAM1 | c.2021C= (p.Pro674=) c.1523C= (p.Pro508=) c.1979C= (p.Pro660=) c.1886C= (p.Pro629=) c.1379C= (p.Pro460=) | |
| 19 | g.4816357G>T | CA403488350 | TICAM1 | c.2021C>A (p.Pro674Gln) c.1523C>A (p.Pro508Gln) c.1979C>A (p.Pro660Gln) c.1886C>A (p.Pro629Gln) c.1379C>A (p.Pro460Gln) | gnomAD v4 |
| 19 | g.4816359del | CA2319604830 | TICAM1 | c.2021del (p.Pro674GlnfsTer18) c.1523del (p.Pro508GlnfsTer18) c.1979del (p.Pro660GlnfsTer18) c.1886del (p.Pro629GlnfsTer18) c.1379del (p.Pro460GlnfsTer18) | dbSNP gnomAD v4 |
| 19 | g.4816358G>A | CA403488351 | TICAM1 | c.2020C>T (p.Pro674Ser) c.1522C>T (p.Pro508Ser) c.1978C>T (p.Pro660Ser) c.1885C>T (p.Pro629Ser) c.1378C>T (p.Pro460Ser) | |
| 19 | g.4816358G>C | CA403488352 | TICAM1 | c.2020C>G (p.Pro674Ala) c.1522C>G (p.Pro508Ala) c.1978C>G (p.Pro660Ala) c.1885C>G (p.Pro629Ala) c.1378C>G (p.Pro460Ala) | |
| 19 | g.4816358G>T | CA403488353 | TICAM1 | c.2020C>A (p.Pro674Thr) c.1522C>A (p.Pro508Thr) c.1978C>A (p.Pro660Thr) c.1885C>A (p.Pro629Thr) c.1378C>A (p.Pro460Thr) | dbSNP gnomAD v4 |
| 19 | g.4816359G>A | CA505173764 | TICAM1 | c.2019C>T (p.Ser673=) c.1521C>T (p.Ser507=) c.1977C>T (p.Ser659=) c.1884C>T (p.Ser628=) c.1377C>T (p.Ser459=) | gnomAD v4 |
| 19 | g.4816359G>C | CA403488354 | TICAM1 | c.2019C>G (p.Ser673Arg) c.1521C>G (p.Ser507Arg) c.1977C>G (p.Ser659Arg) c.1884C>G (p.Ser628Arg) c.1377C>G (p.Ser459Arg) | |
| 19 | g.4816359G= | CA2319604832 | TICAM1 | c.2019C= (p.Ser673=) c.1521C= (p.Ser507=) c.1977C= (p.Ser659=) c.1884C= (p.Ser628=) c.1377C= (p.Ser459=) | |
| 19 | g.4816359G>T | CA403488355 | TICAM1 | c.2019C>A (p.Ser673Arg) c.1521C>A (p.Ser507Arg) c.1977C>A (p.Ser659Arg) c.1884C>A (p.Ser628Arg) c.1377C>A (p.Ser459Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816359_4816361delinsGCT | CA2319604831 | TICAM1 | c.2017_2019delinsAGC (p.Ser673=) c.1519_1521delinsAGC (p.Ser507=) c.1975_1977delinsAGC (p.Ser659=) c.1882_1884delinsAGC (p.Ser628=) c.1375_1377delinsAGC (p.Ser459=) | |
| 19 | g.4816360C>A | CA403488356 | TICAM1 | c.2018G>T (p.Ser673Ile) c.1520G>T (p.Ser507Ile) c.1976G>T (p.Ser659Ile) c.1883G>T (p.Ser628Ile) c.1376G>T (p.Ser459Ile) | gnomAD v4 |
| 19 | g.4816360C>G | CA403488357 | TICAM1 | c.2018G>C (p.Ser673Thr) c.1520G>C (p.Ser507Thr) c.1976G>C (p.Ser659Thr) c.1883G>C (p.Ser628Thr) c.1376G>C (p.Ser459Thr) | |
| 19 | g.4816360C>T | CA403488358 | TICAM1 | c.2018G>A (p.Ser673Asn) c.1520G>A (p.Ser507Asn) c.1976G>A (p.Ser659Asn) c.1883G>A (p.Ser628Asn) c.1376G>A (p.Ser459Asn) | |
| 19 | g.4816362_4816363del | CA9105011 | TICAM1 | c.2017_2018del (p.Ser673ProfsTer?) c.1519_1520del (p.Ser507ProfsTer?) c.1975_1976del (p.Ser659ProfsTer?) c.1882_1883del (p.Ser628ProfsTer?) c.1375_1376del (p.Ser459ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816361T>A | CA403488360 | TICAM1 | c.2017A>T (p.Ser673Cys) c.1519A>T (p.Ser507Cys) c.1975A>T (p.Ser659Cys) c.1882A>T (p.Ser628Cys) c.1375A>T (p.Ser459Cys) | |
| 19 | g.4816361T>C | CA403488361 | TICAM1 | c.2017A>G (p.Ser673Gly) c.1519A>G (p.Ser507Gly) c.1975A>G (p.Ser659Gly) c.1882A>G (p.Ser628Gly) c.1375A>G (p.Ser459Gly) | |
| 19 | g.4816361T>G | CA403488359 | TICAM1 | c.2017A>C (p.Ser673Arg) c.1519A>C (p.Ser507Arg) c.1975A>C (p.Ser659Arg) c.1882A>C (p.Ser628Arg) c.1375A>C (p.Ser459Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816361T= | CA2319604833 | TICAM1 | c.2017A= (p.Ser673=) c.1519A= (p.Ser507=) c.1975A= (p.Ser659=) c.1882A= (p.Ser628=) c.1375A= (p.Ser459=) | |
| 19 | g.4816362C>A | CA403488362 | TICAM1 | c.2016G>T (p.Gln672His) c.1518G>T (p.Gln506His) c.1974G>T (p.Gln658His) c.1881G>T (p.Gln627His) c.1374G>T (p.Gln458His) | |
| 19 | g.4816362C= | CA2319604834 | TICAM1 | c.2016G= (p.Gln672=) c.1518G= (p.Gln506=) c.1974G= (p.Gln658=) c.1881G= (p.Gln627=) c.1374G= (p.Gln458=) | |
| 19 | g.4816362C>G | CA403488363 | TICAM1 | c.2016G>C (p.Gln672His) c.1518G>C (p.Gln506His) c.1974G>C (p.Gln658His) c.1881G>C (p.Gln627His) c.1374G>C (p.Gln458His) | |
| 19 | g.4816362C>T | CA9105012 | TICAM1 | c.2016G>A (p.Gln672=) c.1518G>A (p.Gln506=) c.1974G>A (p.Gln658=) c.1881G>A (p.Gln627=) c.1374G>A (p.Gln458=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816363T>A | CA403488364 | TICAM1 | c.2015A>T (p.Gln672Leu) c.1517A>T (p.Gln506Leu) c.1973A>T (p.Gln658Leu) c.1880A>T (p.Gln627Leu) c.1373A>T (p.Gln458Leu) | |
| 19 | g.4816363T>C | CA403488365 | TICAM1 | c.2015A>G (p.Gln672Arg) c.1517A>G (p.Gln506Arg) c.1973A>G (p.Gln658Arg) c.1880A>G (p.Gln627Arg) c.1373A>G (p.Gln458Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816363T>G | CA403488366 | TICAM1 | c.2015A>C (p.Gln672Pro) c.1517A>C (p.Gln506Pro) c.1973A>C (p.Gln658Pro) c.1880A>C (p.Gln627Pro) c.1373A>C (p.Gln458Pro) | |
| 19 | g.4816363T= | CA2319604835 | TICAM1 | c.2015A= (p.Gln672=) c.1517A= (p.Gln506=) c.1973A= (p.Gln658=) c.1880A= (p.Gln627=) c.1373A= (p.Gln458=) | |
| 19 | g.4816364G>A | CA403488369 | TICAM1 | c.2014C>T (p.Gln672Ter) c.1516C>T (p.Gln506Ter) c.1972C>T (p.Gln658Ter) c.1879C>T (p.Gln627Ter) c.1372C>T (p.Gln458Ter) | |
| 19 | g.4816364G>C | CA403488367 | TICAM1 | c.2014C>G (p.Gln672Glu) c.1516C>G (p.Gln506Glu) c.1972C>G (p.Gln658Glu) c.1879C>G (p.Gln627Glu) c.1372C>G (p.Gln458Glu) | gnomAD v4 |
| 19 | g.4816364G>T | CA403488368 | TICAM1 | c.2014C>A (p.Gln672Lys) c.1516C>A (p.Gln506Lys) c.1972C>A (p.Gln658Lys) c.1879C>A (p.Gln627Lys) c.1372C>A (p.Gln458Lys) | |
| 19 | g.4816365A>C | CA505173781 | TICAM1 | c.2013T>G (p.Pro671=) c.1515T>G (p.Pro505=) c.1971T>G (p.Pro657=) c.1878T>G (p.Pro626=) c.1371T>G (p.Pro457=) | |
| 19 | g.4816365A>G | CA505173784 | TICAM1 | c.2013T>C (p.Pro671=) c.1515T>C (p.Pro505=) c.1971T>C (p.Pro657=) c.1878T>C (p.Pro626=) c.1371T>C (p.Pro457=) | gnomAD v4 |
| 19 | g.4816365A>T | CA505173786 | TICAM1 | c.2013T>A (p.Pro671=) c.1515T>A (p.Pro505=) c.1971T>A (p.Pro657=) c.1878T>A (p.Pro626=) c.1371T>A (p.Pro457=) | |
| 19 | g.4816366G>A | CA403488370 | TICAM1 | c.2012C>T (p.Pro671Leu) c.1514C>T (p.Pro505Leu) c.1970C>T (p.Pro657Leu) c.1877C>T (p.Pro626Leu) c.1370C>T (p.Pro457Leu) | dbSNP gnomAD v4 |
| 19 | g.4816366G>C | CA403488371 | TICAM1 | c.2012C>G (p.Pro671Arg) c.1514C>G (p.Pro505Arg) c.1970C>G (p.Pro657Arg) c.1877C>G (p.Pro626Arg) c.1370C>G (p.Pro457Arg) | |
| 19 | g.4816366G= | CA2319604836 | TICAM1 | c.2012C= (p.Pro671=) c.1514C= (p.Pro505=) c.1970C= (p.Pro657=) c.1877C= (p.Pro626=) c.1370C= (p.Pro457=) | |
| 19 | g.4816366G>T | CA403488372 | TICAM1 | c.2012C>A (p.Pro671His) c.1514C>A (p.Pro505His) c.1970C>A (p.Pro657His) c.1877C>A (p.Pro626His) c.1370C>A (p.Pro457His) | gnomAD v4 |
| 19 | g.4816370dup | CA2586031823 | TICAM1 | c.2012dup (p.Gln672SerfsTer?) c.1514dup (p.Gln506SerfsTer?) c.1970dup (p.Gln658SerfsTer?) c.1877dup (p.Gln627SerfsTer?) c.1370dup (p.Gln458SerfsTer?) | gnomAD v4 |
| 19 | g.4816370del | CA2586031822 | TICAM1 | c.2012del (p.Pro671LeufsTer21) c.1514del (p.Pro505LeufsTer21) c.1970del (p.Pro657LeufsTer21) c.1877del (p.Pro626LeufsTer21) c.1370del (p.Pro457LeufsTer21) | gnomAD v4 |
| 19 | g.4816367G>A | CA9105014 | TICAM1 | c.2011C>T (p.Pro671Ser) c.1513C>T (p.Pro505Ser) c.1969C>T (p.Pro657Ser) c.1876C>T (p.Pro626Ser) c.1369C>T (p.Pro457Ser) | dbSNP ExAC gnomAD v2 |
| 19 | g.4816367G>C | CA9105013 | TICAM1 | c.2011C>G (p.Pro671Ala) c.1513C>G (p.Pro505Ala) c.1969C>G (p.Pro657Ala) c.1876C>G (p.Pro626Ala) c.1369C>G (p.Pro457Ala) | dbSNP ExAC gnomAD v2 |
| 19 | g.4816367G= | CA2319604837 | TICAM1 | c.2011C= (p.Pro671=) c.1513C= (p.Pro505=) c.1969C= (p.Pro657=) c.1876C= (p.Pro626=) c.1369C= (p.Pro457=) | |
| 19 | g.4816367G>T | CA403488373 | TICAM1 | c.2011C>A (p.Pro671Thr) c.1513C>A (p.Pro505Thr) c.1969C>A (p.Pro657Thr) c.1876C>A (p.Pro626Thr) c.1369C>A (p.Pro457Thr) | |
| 19 | g.4816368G>A | CA505173789 | TICAM1 | c.2010C>T (p.Pro670=) c.1512C>T (p.Pro504=) c.1968C>T (p.Pro656=) c.1875C>T (p.Pro625=) c.1368C>T (p.Pro456=) | gnomAD v4 |
| 19 | g.4816368G>C | CA9105015 | TICAM1 | c.2010C>G (p.Pro670=) c.1512C>G (p.Pro504=) c.1968C>G (p.Pro656=) c.1875C>G (p.Pro625=) c.1368C>G (p.Pro456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816368G= | CA2319604838 | TICAM1 | c.2010C= (p.Pro670=) c.1512C= (p.Pro504=) c.1968C= (p.Pro656=) c.1875C= (p.Pro625=) c.1368C= (p.Pro456=) | |
| 19 | g.4816368G>T | CA505173792 | TICAM1 | c.2010C>A (p.Pro670=) c.1512C>A (p.Pro504=) c.1968C>A (p.Pro656=) c.1875C>A (p.Pro625=) c.1368C>A (p.Pro456=) | gnomAD v4 |
| 19 | g.4816369G>A | CA403488375 | TICAM1 | c.2009C>T (p.Pro670Leu) c.1511C>T (p.Pro504Leu) c.1967C>T (p.Pro656Leu) c.1874C>T (p.Pro625Leu) c.1367C>T (p.Pro456Leu) | gnomAD v4 |
| 19 | g.4816369G>C | CA403488374 | TICAM1 | c.2009C>G (p.Pro670Arg) c.1511C>G (p.Pro504Arg) c.1967C>G (p.Pro656Arg) c.1874C>G (p.Pro625Arg) c.1367C>G (p.Pro456Arg) | gnomAD v4 |
| 19 | g.4816369G>T | CA403488376 | TICAM1 | c.2009C>A (p.Pro670His) c.1511C>A (p.Pro504His) c.1967C>A (p.Pro656His) c.1874C>A (p.Pro625His) c.1367C>A (p.Pro456His) | gnomAD v4 |
| 19 | g.4816370G>A | CA403488377 | TICAM1 | c.2008C>T (p.Pro670Ser) c.1510C>T (p.Pro504Ser) c.1966C>T (p.Pro656Ser) c.1873C>T (p.Pro625Ser) c.1366C>T (p.Pro456Ser) | gnomAD v4 |
| 19 | g.4816370G>C | CA403488378 | TICAM1 | c.2008C>G (p.Pro670Ala) c.1510C>G (p.Pro504Ala) c.1966C>G (p.Pro656Ala) c.1873C>G (p.Pro625Ala) c.1366C>G (p.Pro456Ala) | gnomAD v4 |
| 19 | g.4816370G= | CA2319604839 | TICAM1 | c.2008C= (p.Pro670=) c.1510C= (p.Pro504=) c.1966C= (p.Pro656=) c.1873C= (p.Pro625=) c.1366C= (p.Pro456=) | |
| 19 | g.4816370G>T | CA9105016 | TICAM1 | c.2008C>A (p.Pro670Thr) c.1510C>A (p.Pro504Thr) c.1966C>A (p.Pro656Thr) c.1873C>A (p.Pro625Thr) c.1366C>A (p.Pro456Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.4816371T>A | CA505173796 | TICAM1 | c.2007A>T (p.Ala669=) c.1509A>T (p.Ala503=) c.1965A>T (p.Ala655=) c.1872A>T (p.Ala624=) c.1365A>T (p.Ala455=) | |
| 19 | g.4816371T>C | CA505173797 | TICAM1 | c.2007A>G (p.Ala669=) c.1509A>G (p.Ala503=) c.1965A>G (p.Ala655=) c.1872A>G (p.Ala624=) c.1365A>G (p.Ala455=) | gnomAD v4 |
| 19 | g.4816371T>G | CA505173798 | TICAM1 | c.2007A>C (p.Ala669=) c.1509A>C (p.Ala503=) c.1965A>C (p.Ala655=) c.1872A>C (p.Ala624=) c.1365A>C (p.Ala455=) | gnomAD v4 |
| 19 | g.4816372G>A | CA403488379 | TICAM1 | c.2006C>T (p.Ala669Val) c.1508C>T (p.Ala503Val) c.1964C>T (p.Ala655Val) c.1871C>T (p.Ala624Val) c.1364C>T (p.Ala455Val) | gnomAD v4 |
| 19 | g.4816372G>C | CA403488380 | TICAM1 | c.2006C>G (p.Ala669Gly) c.1508C>G (p.Ala503Gly) c.1964C>G (p.Ala655Gly) c.1871C>G (p.Ala624Gly) c.1364C>G (p.Ala455Gly) | |
| 19 | g.4816372G>T | CA403488381 | TICAM1 | c.2006C>A (p.Ala669Glu) c.1508C>A (p.Ala503Glu) c.1964C>A (p.Ala655Glu) c.1871C>A (p.Ala624Glu) c.1364C>A (p.Ala455Glu) | gnomAD v4 |
| 19 | g.4816373C>A | CA403488382 | TICAM1 | c.2005G>T (p.Ala669Ser) c.1507G>T (p.Ala503Ser) c.1963G>T (p.Ala655Ser) c.1870G>T (p.Ala624Ser) c.1363G>T (p.Ala455Ser) | gnomAD v4 |
| 19 | g.4816373C= | CA2319604841 | TICAM1 | c.2005G= (p.Ala669=) c.1507G= (p.Ala503=) c.1963G= (p.Ala655=) c.1870G= (p.Ala624=) c.1363G= (p.Ala455=) | |
| 19 | g.4816373C>G | CA403488383 | TICAM1 | c.2005G>C (p.Ala669Pro) c.1507G>C (p.Ala503Pro) c.1963G>C (p.Ala655Pro) c.1870G>C (p.Ala624Pro) c.1363G>C (p.Ala455Pro) | gnomAD v4 |
| 19 | g.4816373C>T | CA403488384 | TICAM1 | c.2005G>A (p.Ala669Thr) c.1507G>A (p.Ala503Thr) c.1963G>A (p.Ala655Thr) c.1870G>A (p.Ala624Thr) c.1363G>A (p.Ala455Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816373_4816391delinsCGGGTGAGGCCGTAGGGAA | CA2319604840 | TICAM1 | c.1987_2005delinsTTCCCTACGGCCTCACCCG (p.Phe663=) c.1489_1507delinsTTCCCTACGGCCTCACCCG (p.Phe497=) c.1945_1963delinsTTCCCTACGGCCTCACCCG (p.Phe649=) c.1852_1870delinsTTCCCTACGGCCTCACCCG (p.Phe618=) c.1345_1363delinsTTCCCTACGGCCTCACCCG (p.Phe449=) | |
| 19 | g.4816374G>A | CA505173806 | TICAM1 | c.2004C>T (p.Pro668=) c.1506C>T (p.Pro502=) c.1962C>T (p.Pro654=) c.1869C>T (p.Pro623=) c.1362C>T (p.Pro454=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816374G>C | CA505173807 | TICAM1 | c.2004C>G (p.Pro668=) c.1506C>G (p.Pro502=) c.1962C>G (p.Pro654=) c.1869C>G (p.Pro623=) c.1362C>G (p.Pro454=) | |
| 19 | g.4816374G= | CA2319604842 | TICAM1 | c.2004C= (p.Pro668=) c.1506C= (p.Pro502=) c.1962C= (p.Pro654=) c.1869C= (p.Pro623=) c.1362C= (p.Pro454=) | |
| 19 | g.4816374G>T | CA505173808 | TICAM1 | c.2004C>A (p.Pro668=) c.1506C>A (p.Pro502=) c.1962C>A (p.Pro654=) c.1869C>A (p.Pro623=) c.1362C>A (p.Pro454=) | gnomAD v4 |
| 19 | g.4816376_4816393del | CA882980593 | TICAM1 | c.1987_2004del (p.Phe663_Pro668del) c.1489_1506del (p.Phe497_Pro502del) c.1945_1962del (p.Phe649_Pro654del) c.1852_1869del (p.Phe618_Pro623del) c.1345_1362del (p.Phe449_Pro454del) | dbSNP |
| 19 | g.4816375G>A | CA403488385 | TICAM1 | c.2003C>T (p.Pro668Leu) c.1505C>T (p.Pro502Leu) c.1961C>T (p.Pro654Leu) c.1868C>T (p.Pro623Leu) c.1361C>T (p.Pro454Leu) | gnomAD v4 |
| 19 | g.4816375G>C | CA403488386 | TICAM1 | c.2003C>G (p.Pro668Arg) c.1505C>G (p.Pro502Arg) c.1961C>G (p.Pro654Arg) c.1868C>G (p.Pro623Arg) c.1361C>G (p.Pro454Arg) | |
| 19 | g.4816375G>T | CA403488387 | TICAM1 | c.2003C>A (p.Pro668His) c.1505C>A (p.Pro502His) c.1961C>A (p.Pro654His) c.1868C>A (p.Pro623His) c.1361C>A (p.Pro454His) | |
| 19 | g.4816376G>A | CA403488390 | TICAM1 | c.2002C>T (p.Pro668Ser) c.1504C>T (p.Pro502Ser) c.1960C>T (p.Pro654Ser) c.1867C>T (p.Pro623Ser) c.1360C>T (p.Pro454Ser) | gnomAD v4 |
| 19 | g.4816376G>C | CA403488388 | TICAM1 | c.2002C>G (p.Pro668Ala) c.1504C>G (p.Pro502Ala) c.1960C>G (p.Pro654Ala) c.1867C>G (p.Pro623Ala) c.1360C>G (p.Pro454Ala) | |
| 19 | g.4816376G>T | CA403488389 | TICAM1 | c.2002C>A (p.Pro668Thr) c.1504C>A (p.Pro502Thr) c.1960C>A (p.Pro654Thr) c.1867C>A (p.Pro623Thr) c.1360C>A (p.Pro454Thr) | gnomAD v4 |
| 19 | g.4816377T>A | CA505173814 | TICAM1 | c.2001A>T (p.Ser667=) c.1503A>T (p.Ser501=) c.1959A>T (p.Ser653=) c.1866A>T (p.Ser622=) c.1359A>T (p.Ser453=) | gnomAD v4 |
| 19 | g.4816377T>C | CA505173815 | TICAM1 | c.2001A>G (p.Ser667=) c.1503A>G (p.Ser501=) c.1959A>G (p.Ser653=) c.1866A>G (p.Ser622=) c.1359A>G (p.Ser453=) | gnomAD v4 |
| 19 | g.4816377T>G | CA505173813 | TICAM1 | c.2001A>C (p.Ser667=) c.1503A>C (p.Ser501=) c.1959A>C (p.Ser653=) c.1866A>C (p.Ser622=) c.1359A>C (p.Ser453=) | |
| 19 | g.4816378G>A | CA403488391 | TICAM1 | c.2000C>T (p.Ser667Leu) c.1502C>T (p.Ser501Leu) c.1958C>T (p.Ser653Leu) c.1865C>T (p.Ser622Leu) c.1358C>T (p.Ser453Leu) | |
| 19 | g.4816378G>C | CA403488392 | TICAM1 | c.2000C>G (p.Ser667Ter) c.1502C>G (p.Ser501Ter) c.1958C>G (p.Ser653Ter) c.1865C>G (p.Ser622Ter) c.1358C>G (p.Ser453Ter) | |
| 19 | g.4816378G>T | CA403488393 | TICAM1 | c.2000C>A (p.Ser667Ter) c.1502C>A (p.Ser501Ter) c.1958C>A (p.Ser653Ter) c.1865C>A (p.Ser622Ter) c.1358C>A (p.Ser453Ter) | gnomAD v4 |
| 19 | g.4816379A>C | CA403488394 | TICAM1 | c.1999T>G (p.Ser667Ala) c.1501T>G (p.Ser501Ala) c.1957T>G (p.Ser653Ala) c.1864T>G (p.Ser622Ala) c.1357T>G (p.Ser453Ala) | |
| 19 | g.4816379A>G | CA403488395 | TICAM1 | c.1999T>C (p.Ser667Pro) c.1501T>C (p.Ser501Pro) c.1957T>C (p.Ser653Pro) c.1864T>C (p.Ser622Pro) c.1357T>C (p.Ser453Pro) | gnomAD v4 |
| 19 | g.4816379A>T | CA403488396 | TICAM1 | c.1999T>A (p.Ser667Thr) c.1501T>A (p.Ser501Thr) c.1957T>A (p.Ser653Thr) c.1864T>A (p.Ser622Thr) c.1357T>A (p.Ser453Thr) | |
| 19 | g.4816380G>A | CA505173819 | TICAM1 | c.1998C>T (p.Ala666=) c.1500C>T (p.Ala500=) c.1956C>T (p.Ala652=) c.1863C>T (p.Ala621=) c.1356C>T (p.Ala452=) | gnomAD v4 |
| 19 | g.4816380G>C | CA505173821 | TICAM1 | c.1998C>G (p.Ala666=) c.1500C>G (p.Ala500=) c.1956C>G (p.Ala652=) c.1863C>G (p.Ala621=) c.1356C>G (p.Ala452=) | |
| 19 | g.4816380G>T | CA505173822 | TICAM1 | c.1998C>A (p.Ala666=) c.1500C>A (p.Ala500=) c.1956C>A (p.Ala652=) c.1863C>A (p.Ala621=) c.1356C>A (p.Ala452=) | gnomAD v4 |
| 19 | g.4816381G>A | CA403488397 | TICAM1 | c.1997C>T (p.Ala666Val) c.1499C>T (p.Ala500Val) c.1955C>T (p.Ala652Val) c.1862C>T (p.Ala621Val) c.1355C>T (p.Ala452Val) | |
| 19 | g.4816381G>C | CA403488398 | TICAM1 | c.1997C>G (p.Ala666Gly) c.1499C>G (p.Ala500Gly) c.1955C>G (p.Ala652Gly) c.1862C>G (p.Ala621Gly) c.1355C>G (p.Ala452Gly) | |
| 19 | g.4816381G>T | CA403488399 | TICAM1 | c.1997C>A (p.Ala666Asp) c.1499C>A (p.Ala500Asp) c.1955C>A (p.Ala652Asp) c.1862C>A (p.Ala621Asp) c.1355C>A (p.Ala452Asp) | gnomAD v4 |
| 19 | g.4816382C>A | CA403488400 | TICAM1 | c.1996G>T (p.Ala666Ser) c.1498G>T (p.Ala500Ser) c.1954G>T (p.Ala652Ser) c.1861G>T (p.Ala621Ser) c.1354G>T (p.Ala452Ser) | gnomAD v4 |
| 19 | g.4816382C= | CA2319604843 | TICAM1 | c.1996G= (p.Ala666=) c.1498G= (p.Ala500=) c.1954G= (p.Ala652=) c.1861G= (p.Ala621=) c.1354G= (p.Ala452=) | |
| 19 | g.4816382C>G | CA403488401 | TICAM1 | c.1996G>C (p.Ala666Pro) c.1498G>C (p.Ala500Pro) c.1954G>C (p.Ala652Pro) c.1861G>C (p.Ala621Pro) c.1354G>C (p.Ala452Pro) | |
| 19 | g.4816382C>T | CA304546946 | TICAM1 | c.1996G>A (p.Ala666Thr) c.1498G>A (p.Ala500Thr) c.1954G>A (p.Ala652Thr) c.1861G>A (p.Ala621Thr) c.1354G>A (p.Ala452Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816383C>A | CA505173828 | TICAM1 | c.1995G>T (p.Thr665=) c.1497G>T (p.Thr499=) c.1953G>T (p.Thr651=) c.1860G>T (p.Thr620=) c.1353G>T (p.Thr451=) | gnomAD v4 COSMIC |
| 19 | g.4816383C= | CA2319604844 | TICAM1 | c.1995G= (p.Thr665=) c.1497G= (p.Thr499=) c.1953G= (p.Thr651=) c.1860G= (p.Thr620=) c.1353G= (p.Thr451=) | |
| 19 | g.4816383C>G | CA505173830 | TICAM1 | c.1995G>C (p.Thr665=) c.1497G>C (p.Thr499=) c.1953G>C (p.Thr651=) c.1860G>C (p.Thr620=) c.1353G>C (p.Thr451=) | |
| 19 | g.4816383C>T | CA505173832 | TICAM1 | c.1995G>A (p.Thr665=) c.1497G>A (p.Thr499=) c.1953G>A (p.Thr651=) c.1860G>A (p.Thr620=) c.1353G>A (p.Thr451=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816384G>A | CA9105017 | TICAM1 | c.1994C>T (p.Thr665Met) c.1496C>T (p.Thr499Met) c.1952C>T (p.Thr651Met) c.1859C>T (p.Thr620Met) c.1352C>T (p.Thr451Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816384G>C | CA403488403 | TICAM1 | c.1994C>G (p.Thr665Arg) c.1496C>G (p.Thr499Arg) c.1952C>G (p.Thr651Arg) c.1859C>G (p.Thr620Arg) c.1352C>G (p.Thr451Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816384G= | CA2319604845 | TICAM1 | c.1994C= (p.Thr665=) c.1496C= (p.Thr499=) c.1952C= (p.Thr651=) c.1859C= (p.Thr620=) c.1352C= (p.Thr451=) | |
| 19 | g.4816384G>T | CA403488402 | TICAM1 | c.1994C>A (p.Thr665Lys) c.1496C>A (p.Thr499Lys) c.1952C>A (p.Thr651Lys) c.1859C>A (p.Thr620Lys) c.1352C>A (p.Thr451Lys) | gnomAD v4 |
| 19 | g.4816385T>A | CA403488404 | TICAM1 | c.1993A>T (p.Thr665Ser) c.1495A>T (p.Thr499Ser) c.1951A>T (p.Thr651Ser) c.1858A>T (p.Thr620Ser) c.1351A>T (p.Thr451Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816385T>C | CA403488405 | TICAM1 | c.1993A>G (p.Thr665Ala) c.1495A>G (p.Thr499Ala) c.1951A>G (p.Thr651Ala) c.1858A>G (p.Thr620Ala) c.1351A>G (p.Thr451Ala) | gnomAD v4 |
| 19 | g.4816385T>G | CA403488406 | TICAM1 | c.1993A>C (p.Thr665Pro) c.1495A>C (p.Thr499Pro) c.1951A>C (p.Thr651Pro) c.1858A>C (p.Thr620Pro) c.1351A>C (p.Thr451Pro) | |
| 19 | g.4816385T= | CA2319604846 | TICAM1 | c.1993A= (p.Thr665=) c.1495A= (p.Thr499=) c.1951A= (p.Thr651=) c.1858A= (p.Thr620=) c.1351A= (p.Thr451=) | |
| 19 | g.4816386A>C | CA505173837 | TICAM1 | c.1992T>G (p.Pro664=) c.1494T>G (p.Pro498=) c.1950T>G (p.Pro650=) c.1857T>G (p.Pro619=) c.1350T>G (p.Pro450=) | gnomAD v4 |
| 19 | g.4816386A>G | CA505173838 | TICAM1 | c.1992T>C (p.Pro664=) c.1494T>C (p.Pro498=) c.1950T>C (p.Pro650=) c.1857T>C (p.Pro619=) c.1350T>C (p.Pro450=) | gnomAD v4 |
| 19 | g.4816386A>T | CA505173839 | TICAM1 | c.1992T>A (p.Pro664=) c.1494T>A (p.Pro498=) c.1950T>A (p.Pro650=) c.1857T>A (p.Pro619=) c.1350T>A (p.Pro450=) | |
| 19 | g.4816386_4816404delinsAGGGAAGGCTGGGGACTGC | CA2319604847 | TICAM1 | c.1974_1992delinsGCAGTCCCCAGCCTTCCCT (p.Pro658=) c.1480-4_1494delinsGCAGTCCCCAGCCTTCCCT c.1932_1950delinsGCAGTCCCCAGCCTTCCCT (p.Pro644=) c.1839_1857delinsGCAGTCCCCAGCCTTCCCT (p.Pro613=) c.1332_1350delinsGCAGTCCCCAGCCTTCCCT (p.Pro444=) | |
| 19 | g.4816387G>A | CA403488407 | TICAM1 | c.1991C>T (p.Pro664Leu) c.1493C>T (p.Pro498Leu) c.1949C>T (p.Pro650Leu) c.1856C>T (p.Pro619Leu) c.1349C>T (p.Pro450Leu) | |
| 19 | g.4816387G>C | CA403488408 | TICAM1 | c.1991C>G (p.Pro664Arg) c.1493C>G (p.Pro498Arg) c.1949C>G (p.Pro650Arg) c.1856C>G (p.Pro619Arg) c.1349C>G (p.Pro450Arg) | |
| 19 | g.4816387G>T | CA403488409 | TICAM1 | c.1991C>A (p.Pro664His) c.1493C>A (p.Pro498His) c.1949C>A (p.Pro650His) c.1856C>A (p.Pro619His) c.1349C>A (p.Pro450His) | gnomAD v4 |
| 19 | g.4816389del | CA2586031824 | TICAM1 | c.1991del (p.Pro664LeufsTer28) c.1493del (p.Pro498LeufsTer28) c.1949del (p.Pro650LeufsTer28) c.1856del (p.Pro619LeufsTer28) c.1349del (p.Pro450LeufsTer28) | gnomAD v4 |
| 19 | g.4816394_4816411del | CA9105018 | TICAM1 | c.1974_1991del (p.Gln659_Pro664del) c.1480-4_1493del c.1932_1949del (p.Gln645_Pro650del) c.1839_1856del (p.Gln614_Pro619del) c.1332_1349del (p.Gln445_Pro450del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816388G>A | CA403488410 | TICAM1 | c.1990C>T (p.Pro664Ser) c.1492C>T (p.Pro498Ser) c.1948C>T (p.Pro650Ser) c.1855C>T (p.Pro619Ser) c.1348C>T (p.Pro450Ser) | gnomAD v4 COSMIC |
| 19 | g.4816388G>C | CA403488411 | TICAM1 | c.1990C>G (p.Pro664Ala) c.1492C>G (p.Pro498Ala) c.1948C>G (p.Pro650Ala) c.1855C>G (p.Pro619Ala) c.1348C>G (p.Pro450Ala) | |
| 19 | g.4816388G>T | CA403488412 | TICAM1 | c.1990C>A (p.Pro664Thr) c.1492C>A (p.Pro498Thr) c.1948C>A (p.Pro650Thr) c.1855C>A (p.Pro619Thr) c.1348C>A (p.Pro450Thr) | |
| 19 | g.4816389G>A | CA505173846 | TICAM1 | c.1989C>T (p.Phe663=) c.1491C>T (p.Phe497=) c.1947C>T (p.Phe649=) c.1854C>T (p.Phe618=) c.1347C>T (p.Phe449=) | gnomAD v4 COSMIC |
| 19 | g.4816389G>C | CA403488413 | TICAM1 | c.1989C>G (p.Phe663Leu) c.1491C>G (p.Phe497Leu) c.1947C>G (p.Phe649Leu) c.1854C>G (p.Phe618Leu) c.1347C>G (p.Phe449Leu) | |
| 19 | g.4816389G>T | CA403488414 | TICAM1 | c.1989C>A (p.Phe663Leu) c.1491C>A (p.Phe497Leu) c.1947C>A (p.Phe649Leu) c.1854C>A (p.Phe618Leu) c.1347C>A (p.Phe449Leu) | COSMIC |
| 19 | g.4816390A>C | CA403488416 | TICAM1 | c.1988T>G (p.Phe663Cys) c.1490T>G (p.Phe497Cys) c.1946T>G (p.Phe649Cys) c.1853T>G (p.Phe618Cys) c.1346T>G (p.Phe449Cys) | |
| 19 | g.4816390A>G | CA403488417 | TICAM1 | c.1988T>C (p.Phe663Ser) c.1490T>C (p.Phe497Ser) c.1946T>C (p.Phe649Ser) c.1853T>C (p.Phe618Ser) c.1346T>C (p.Phe449Ser) | |
| 19 | g.4816390A>T | CA403488415 | TICAM1 | c.1988T>A (p.Phe663Tyr) c.1490T>A (p.Phe497Tyr) c.1946T>A (p.Phe649Tyr) c.1853T>A (p.Phe618Tyr) c.1346T>A (p.Phe449Tyr) | |
| 19 | g.4816391del | CA2586031825 | TICAM1 | c.1988del (p.Phe663SerfsTer29) c.1490del (p.Phe497SerfsTer29) c.1946del (p.Phe649SerfsTer29) c.1853del (p.Phe618SerfsTer29) c.1346del (p.Phe449SerfsTer29) | gnomAD v4 |
| 19 | g.4816391A>C | CA403488418 | TICAM1 | c.1987T>G (p.Phe663Val) c.1489T>G (p.Phe497Val) c.1945T>G (p.Phe649Val) c.1852T>G (p.Phe618Val) c.1345T>G (p.Phe449Val) | |
| 19 | g.4816391A>G | CA403488419 | TICAM1 | c.1987T>C (p.Phe663Leu) c.1489T>C (p.Phe497Leu) c.1945T>C (p.Phe649Leu) c.1852T>C (p.Phe618Leu) c.1345T>C (p.Phe449Leu) | |
| 19 | g.4816391A>T | CA403488420 | TICAM1 | c.1987T>A (p.Phe663Ile) c.1489T>A (p.Phe497Ile) c.1945T>A (p.Phe649Ile) c.1852T>A (p.Phe618Ile) c.1345T>A (p.Phe449Ile) | |
| 19 | g.4816392G>A | CA505173848 | TICAM1 | c.1986C>T (p.Ala662=) c.1488C>T (p.Ala496=) c.1944C>T (p.Ala648=) c.1851C>T (p.Ala617=) c.1344C>T (p.Ala448=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816392G>C | CA505173849 | TICAM1 | c.1986C>G (p.Ala662=) c.1488C>G (p.Ala496=) c.1944C>G (p.Ala648=) c.1851C>G (p.Ala617=) c.1344C>G (p.Ala448=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816392G= | CA2319604848 | TICAM1 | c.1986C= (p.Ala662=) c.1488C= (p.Ala496=) c.1944C= (p.Ala648=) c.1851C= (p.Ala617=) c.1344C= (p.Ala448=) | |
| 19 | g.4816392G>T | CA505173850 | TICAM1 | c.1986C>A (p.Ala662=) c.1488C>A (p.Ala496=) c.1944C>A (p.Ala648=) c.1851C>A (p.Ala617=) c.1344C>A (p.Ala448=) | gnomAD v4 |
| 19 | g.4816393G>A | CA403488421 | TICAM1 | c.1985C>T (p.Ala662Val) c.1487C>T (p.Ala496Val) c.1943C>T (p.Ala648Val) c.1850C>T (p.Ala617Val) c.1343C>T (p.Ala448Val) | gnomAD v4 |
| 19 | g.4816393G>C | CA403488422 | TICAM1 | c.1985C>G (p.Ala662Gly) c.1487C>G (p.Ala496Gly) c.1943C>G (p.Ala648Gly) c.1850C>G (p.Ala617Gly) c.1343C>G (p.Ala448Gly) | gnomAD v4 |
| 19 | g.4816393G>T | CA403488423 | TICAM1 | c.1985C>A (p.Ala662Asp) c.1487C>A (p.Ala496Asp) c.1943C>A (p.Ala648Asp) c.1850C>A (p.Ala617Asp) c.1343C>A (p.Ala448Asp) | gnomAD v4 |
| 19 | g.4816394C>A | CA403488425 | TICAM1 | c.1984G>T (p.Ala662Ser) c.1486G>T (p.Ala496Ser) c.1942G>T (p.Ala648Ser) c.1849G>T (p.Ala617Ser) c.1342G>T (p.Ala448Ser) | gnomAD v4 |
| 19 | g.4816394C= | CA2319604849 | TICAM1 | c.1984G= (p.Ala662=) c.1486G= (p.Ala496=) c.1942G= (p.Ala648=) c.1849G= (p.Ala617=) c.1342G= (p.Ala448=) | |
| 19 | g.4816394C>G | CA403488424 | TICAM1 | c.1984G>C (p.Ala662Pro) c.1486G>C (p.Ala496Pro) c.1942G>C (p.Ala648Pro) c.1849G>C (p.Ala617Pro) c.1342G>C (p.Ala448Pro) | |
| 19 | g.4816394C>T | CA9105019 | TICAM1 | c.1984G>A (p.Ala662Thr) c.1486G>A (p.Ala496Thr) c.1942G>A (p.Ala648Thr) c.1849G>A (p.Ala617Thr) c.1342G>A (p.Ala448Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816395T>A | CA505173853 | TICAM1 | c.1983A>T (p.Pro661=) c.1485A>T (p.Pro495=) c.1941A>T (p.Pro647=) c.1848A>T (p.Pro616=) c.1341A>T (p.Pro447=) | |
| 19 | g.4816395T>C | CA505173855 | TICAM1 | c.1983A>G (p.Pro661=) c.1485A>G (p.Pro495=) c.1941A>G (p.Pro647=) c.1848A>G (p.Pro616=) c.1341A>G (p.Pro447=) | gnomAD v4 |
| 19 | g.4816395T>G | CA505173854 | TICAM1 | c.1983A>C (p.Pro661=) c.1485A>C (p.Pro495=) c.1941A>C (p.Pro647=) c.1848A>C (p.Pro616=) c.1341A>C (p.Pro447=) | |
| 19 | g.4816396G>A | CA403488426 | TICAM1 | c.1982C>T (p.Pro661Leu) c.1484C>T (p.Pro495Leu) c.1940C>T (p.Pro647Leu) c.1847C>T (p.Pro616Leu) c.1340C>T (p.Pro447Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816396G>C | CA403488427 | TICAM1 | c.1982C>G (p.Pro661Arg) c.1484C>G (p.Pro495Arg) c.1940C>G (p.Pro647Arg) c.1847C>G (p.Pro616Arg) c.1340C>G (p.Pro447Arg) | |
| 19 | g.4816396G= | CA2319604850 | TICAM1 | c.1982C= (p.Pro661=) c.1484C= (p.Pro495=) c.1940C= (p.Pro647=) c.1847C= (p.Pro616=) c.1340C= (p.Pro447=) | |
| 19 | g.4816396G>T | CA403488428 | TICAM1 | c.1982C>A (p.Pro661Gln) c.1484C>A (p.Pro495Gln) c.1940C>A (p.Pro647Gln) c.1847C>A (p.Pro616Gln) c.1340C>A (p.Pro447Gln) | |
| 19 | g.4816399del | CA2586031826 | TICAM1 | c.1982del (p.Pro661GlnfsTer?) c.1484del (p.Pro495GlnfsTer?) c.1940del (p.Pro647GlnfsTer?) c.1847del (p.Pro616GlnfsTer?) c.1340del (p.Pro447GlnfsTer?) | gnomAD v4 |
| 19 | g.4816397G>A | CA403488429 | TICAM1 | c.1981C>T (p.Pro661Ser) c.1483C>T (p.Pro495Ser) c.1939C>T (p.Pro647Ser) c.1846C>T (p.Pro616Ser) c.1339C>T (p.Pro447Ser) | gnomAD v4 |
| 19 | g.4816397G>C | CA403488430 | TICAM1 | c.1981C>G (p.Pro661Ala) c.1483C>G (p.Pro495Ala) c.1939C>G (p.Pro647Ala) c.1846C>G (p.Pro616Ala) c.1339C>G (p.Pro447Ala) | |
| 19 | g.4816397G>T | CA403488431 | TICAM1 | c.1981C>A (p.Pro661Thr) c.1483C>A (p.Pro495Thr) c.1939C>A (p.Pro647Thr) c.1846C>A (p.Pro616Thr) c.1339C>A (p.Pro447Thr) | gnomAD v4 |
| 19 | g.4816398G>A | CA505173857 | TICAM1 | c.1980C>T (p.Ser660=) c.1482C>T (p.Ser494=) c.1938C>T (p.Ser646=) c.1845C>T (p.Ser615=) c.1338C>T (p.Ser446=) | gnomAD v4 |
| 19 | g.4816398G>C | CA304546957 | TICAM1 | c.1980C>G (p.Ser660=) c.1482C>G (p.Ser494=) c.1938C>G (p.Ser646=) c.1845C>G (p.Ser615=) c.1338C>G (p.Ser446=) | dbSNP |
| 19 | g.4816398G= | CA2319604851 | TICAM1 | c.1980C= (p.Ser660=) c.1482C= (p.Ser494=) c.1938C= (p.Ser646=) c.1845C= (p.Ser615=) c.1338C= (p.Ser446=) | |
| 19 | g.4816398G>T | CA505173859 | TICAM1 | c.1980C>A (p.Ser660=) c.1482C>A (p.Ser494=) c.1938C>A (p.Ser646=) c.1845C>A (p.Ser615=) c.1338C>A (p.Ser446=) | |
| 19 | g.4816399G>A | CA403488433 | TICAM1 | c.1979C>T (p.Ser660Phe) c.1481C>T (p.Ser494Phe) c.1937C>T (p.Ser646Phe) c.1844C>T (p.Ser615Phe) c.1337C>T (p.Ser446Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816399G>C | CA403488432 | TICAM1 | c.1979C>G (p.Ser660Cys) c.1481C>G (p.Ser494Cys) c.1937C>G (p.Ser646Cys) c.1844C>G (p.Ser615Cys) c.1337C>G (p.Ser446Cys) | |
| 19 | g.4816399G= | CA2319604852 | TICAM1 | c.1979C= (p.Ser660=) c.1481C= (p.Ser494=) c.1937C= (p.Ser646=) c.1844C= (p.Ser615=) c.1337C= (p.Ser446=) | |
| 19 | g.4816399G>T | CA9105020 | TICAM1 | c.1979C>A (p.Ser660Tyr) c.1481C>A (p.Ser494Tyr) c.1937C>A (p.Ser646Tyr) c.1844C>A (p.Ser615Tyr) c.1337C>A (p.Ser446Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816400A= | CA2319604853 | TICAM1 | c.1978T= (p.Ser660=) c.1480T= (p.Ser494=) c.1936T= (p.Ser646=) c.1843T= (p.Ser615=) c.1336T= (p.Ser446=) | |
| 19 | g.4816400A>C | CA403488435 | TICAM1 | c.1978T>G (p.Ser660Ala) c.1480T>G (p.Ser494Ala) c.1936T>G (p.Ser646Ala) c.1843T>G (p.Ser615Ala) c.1336T>G (p.Ser446Ala) | |
| 19 | g.4816400A>G | CA403488434 | TICAM1 | c.1978T>C (p.Ser660Pro) c.1480T>C (p.Ser494Pro) c.1936T>C (p.Ser646Pro) c.1843T>C (p.Ser615Pro) c.1336T>C (p.Ser446Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816400A>T | CA403488436 | TICAM1 | c.1978T>A (p.Ser660Thr) c.1480T>A (p.Ser494Thr) c.1936T>A (p.Ser646Thr) c.1843T>A (p.Ser615Thr) c.1336T>A (p.Ser446Thr) | |
| 19 | g.4816401C>A | CA403488437 | TICAM1 | c.1977G>T (p.Gln659His) c.1480-1G>T (n.1480-1G>T) c.1935G>T (p.Gln645His) c.1842G>T (p.Gln614His) c.1335G>T (p.Gln445His) | gnomAD v4 |
| 19 | g.4816401C= | CA2319604854 | TICAM1 | c.1977G= (p.Gln659=) c.1480-1G= (n.1480-1G=) c.1935G= (p.Gln645=) c.1842G= (p.Gln614=) c.1335G= (p.Gln445=) | |
| 19 | g.4816401C>G | CA403488439 | TICAM1 | c.1977G>C (p.Gln659His) c.1480-1G>C (n.1480-1G>C) c.1935G>C (p.Gln645His) c.1842G>C (p.Gln614His) c.1335G>C (p.Gln445His) | |
| 19 | g.4816401C>T | CA403488438 | TICAM1 | c.1977G>A (p.Gln659=) c.1480-1G>A (n.1480-1G>A) c.1935G>A (p.Gln645=) c.1842G>A (p.Gln614=) c.1335G>A (p.Gln445=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816402T>A | CA403488440 | TICAM1 | c.1976A>T (p.Gln659Leu) c.1480-2A>T (n.1480-2A>T) c.1934A>T (p.Gln645Leu) c.1841A>T (p.Gln614Leu) c.1334A>T (p.Gln445Leu) | |
| 19 | g.4816402T>C | CA403488442 | TICAM1 | c.1976A>G (p.Gln659Arg) c.1480-2A>G (n.1480-2A>G) c.1934A>G (p.Gln645Arg) c.1841A>G (p.Gln614Arg) c.1334A>G (p.Gln445Arg) | |
| 19 | g.4816402T>G | CA403488441 | TICAM1 | c.1976A>C (p.Gln659Pro) c.1480-2A>C (n.1480-2A>C) c.1934A>C (p.Gln645Pro) c.1841A>C (p.Gln614Pro) c.1334A>C (p.Gln445Pro) | |
| 19 | g.4816403G>A | CA403488443 | TICAM1 | c.1975C>T (p.Gln659Ter) c.1480-3C>T (n.1480-3C>T) c.1933C>T (p.Gln645Ter) c.1840C>T (p.Gln614Ter) c.1333C>T (p.Gln445Ter) | gnomAD v4 |
| 19 | g.4816403G>C | CA403488445 | TICAM1 | c.1975C>G (p.Gln659Glu) c.1480-3C>G (n.1480-3C>G) c.1933C>G (p.Gln645Glu) c.1840C>G (p.Gln614Glu) c.1333C>G (p.Gln445Glu) | |
| 19 | g.4816403G>T | CA403488444 | TICAM1 | c.1975C>A (p.Gln659Lys) c.1480-3C>A (n.1480-3C>A) c.1933C>A (p.Gln645Lys) c.1840C>A (p.Gln614Lys) c.1333C>A (p.Gln445Lys) | gnomAD v4 |
| 19 | g.4816404C>A | CA9105022 | TICAM1 | c.1974G>T (p.Pro658=) c.1480-4G>T (n.1480-4G>T) c.1932G>T (p.Pro644=) c.1839G>T (p.Pro613=) c.1332G>T (p.Pro444=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816404C= | CA2319604855 | TICAM1 | c.1974G= (p.Pro658=) c.1480-4G= (n.1480-4G=) c.1932G= (p.Pro644=) c.1839G= (p.Pro613=) c.1332G= (p.Pro444=) | |
| 19 | g.4816404C>G | CA505173866 | TICAM1 | c.1974G>C (p.Pro658=) c.1480-4G>C (n.1480-4G>C) c.1932G>C (p.Pro644=) c.1839G>C (p.Pro613=) c.1332G>C (p.Pro444=) | |
| 19 | g.4816404C>T | CA9105021 | TICAM1 | c.1974G>A (p.Pro658=) c.1480-4G>A (n.1480-4G>A) c.1932G>A (p.Pro644=) c.1839G>A (p.Pro613=) c.1332G>A (p.Pro444=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816405G>A | CA9105023 | TICAM1 | c.1973C>T (p.Pro658Leu) c.1480-5C>T (n.1480-5C>T) c.1931C>T (p.Pro644Leu) c.1838C>T (p.Pro613Leu) c.1331C>T (p.Pro444Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816405G>C | CA9105024 | TICAM1 | c.1973C>G (p.Pro658Arg) c.1480-5C>G (n.1480-5C>G) c.1931C>G (p.Pro644Arg) c.1838C>G (p.Pro613Arg) c.1331C>G (p.Pro444Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816405G= | CA2319604856 | TICAM1 | c.1973C= (p.Pro658=) c.1480-5C= (n.1480-5C=) c.1931C= (p.Pro644=) c.1838C= (p.Pro613=) c.1331C= (p.Pro444=) | |
| 19 | g.4816405G>T | CA403488446 | TICAM1 | c.1973C>A (p.Pro658Gln) c.1480-5C>A (n.1480-5C>A) c.1931C>A (p.Pro644Gln) c.1838C>A (p.Pro613Gln) c.1331C>A (p.Pro444Gln) | gnomAD v4 |
| 19 | g.4816406G>A | CA403488447 | TICAM1 | c.1972C>T (p.Pro658Ser) c.1480-6C>T (n.1480-6C>T) c.1930C>T (p.Pro644Ser) c.1837C>T (p.Pro613Ser) c.1330C>T (p.Pro444Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816406G>C | CA403488448 | TICAM1 | c.1972C>G (p.Pro658Ala) c.1480-6C>G (n.1480-6C>G) c.1930C>G (p.Pro644Ala) c.1837C>G (p.Pro613Ala) c.1330C>G (p.Pro444Ala) | |
| 19 | g.4816406G= | CA2319604857 | TICAM1 | c.1972C= (p.Pro658=) c.1480-6C= (n.1480-6C=) c.1930C= (p.Pro644=) c.1837C= (p.Pro613=) c.1330C= (p.Pro444=) | |
| 19 | g.4816406G>T | CA403488449 | TICAM1 | c.1972C>A (p.Pro658Thr) c.1480-6C>A (n.1480-6C>A) c.1930C>A (p.Pro644Thr) c.1837C>A (p.Pro613Thr) c.1330C>A (p.Pro444Thr) | |
| 19 | g.4816407G>A | CA505173873 | TICAM1 | c.1971C>T (p.Phe657=) c.1480-7C>T (n.1480-7C>T) c.1929C>T (p.Phe643=) c.1836C>T (p.Phe612=) c.1329C>T (p.Phe443=) | |
| 19 | g.4816407G>C | CA403488450 | TICAM1 | c.1971C>G (p.Phe657Leu) c.1480-7C>G (n.1480-7C>G) c.1929C>G (p.Phe643Leu) c.1836C>G (p.Phe612Leu) c.1329C>G (p.Phe443Leu) | |
| 19 | g.4816407G>T | CA403488451 | TICAM1 | c.1971C>A (p.Phe657Leu) c.1480-7C>A (n.1480-7C>A) c.1929C>A (p.Phe643Leu) c.1836C>A (p.Phe612Leu) c.1329C>A (p.Phe443Leu) | |
| 19 | g.4816408A>C | CA403488452 | TICAM1 | c.1970T>G (p.Phe657Cys) c.1480-8T>G (n.1480-8T>G) c.1928T>G (p.Phe643Cys) c.1835T>G (p.Phe612Cys) c.1328T>G (p.Phe443Cys) | |
| 19 | g.4816408A>G | CA403488453 | TICAM1 | c.1970T>C (p.Phe657Ser) c.1480-8T>C (n.1480-8T>C) c.1928T>C (p.Phe643Ser) c.1835T>C (p.Phe612Ser) c.1328T>C (p.Phe443Ser) | |
| 19 | g.4816408A>T | CA403488454 | TICAM1 | c.1970T>A (p.Phe657Tyr) c.1480-8T>A (n.1480-8T>A) c.1928T>A (p.Phe643Tyr) c.1835T>A (p.Phe612Tyr) c.1328T>A (p.Phe443Tyr) | |
| 19 | g.4816409A>C | CA403488455 | TICAM1 | c.1969T>G (p.Phe657Val) c.1480-9T>G (n.1480-9T>G) c.1927T>G (p.Phe643Val) c.1834T>G (p.Phe612Val) c.1327T>G (p.Phe443Val) | |
| 19 | g.4816409A>G | CA403488456 | TICAM1 | c.1969T>C (p.Phe657Leu) c.1480-9T>C (n.1480-9T>C) c.1927T>C (p.Phe643Leu) c.1834T>C (p.Phe612Leu) c.1327T>C (p.Phe443Leu) | gnomAD v4 |
| 19 | g.4816409A>T | CA403488457 | TICAM1 | c.1969T>A (p.Phe657Ile) c.1480-9T>A (n.1480-9T>A) c.1927T>A (p.Phe643Ile) c.1834T>A (p.Phe612Ile) c.1327T>A (p.Phe443Ile) | |
| 19 | g.4816410G>A | CA505173879 | TICAM1 | c.1968C>T (p.Pro656=) c.1480-10C>T (n.1480-10C>T) c.1926C>T (p.Pro642=) c.1833C>T (p.Pro611=) c.1326C>T (p.Pro442=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816410G>C | CA505173881 | TICAM1 | c.1968C>G (p.Pro656=) c.1480-10C>G (n.1480-10C>G) c.1926C>G (p.Pro642=) c.1833C>G (p.Pro611=) c.1326C>G (p.Pro442=) | |
| 19 | g.4816410G= | CA2319604858 | TICAM1 | c.1968C= (p.Pro656=) c.1480-10C= (n.1480-10C=) c.1926C= (p.Pro642=) c.1833C= (p.Pro611=) c.1326C= (p.Pro442=) | |
| 19 | g.4816410G>T | CA505173882 | TICAM1 | c.1968C>A (p.Pro656=) c.1480-10C>A (n.1480-10C>A) c.1926C>A (p.Pro642=) c.1833C>A (p.Pro611=) c.1326C>A (p.Pro442=) | gnomAD v4 |
| 19 | g.4816411G>A | CA403488458 | TICAM1 | c.1967C>T (p.Pro656Leu) c.1480-11C>T (n.1480-11C>T) c.1925C>T (p.Pro642Leu) c.1832C>T (p.Pro611Leu) c.1325C>T (p.Pro442Leu) | |
| 19 | g.4816411G>C | CA9105025 | TICAM1 | c.1967C>G (p.Pro656Arg) c.1480-11C>G (n.1480-11C>G) c.1925C>G (p.Pro642Arg) c.1832C>G (p.Pro611Arg) c.1325C>G (p.Pro442Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.4816411G= | CA2319604859 | TICAM1 | c.1967C= (p.Pro656=) c.1480-11C= (n.1480-11C=) c.1925C= (p.Pro642=) c.1832C= (p.Pro611=) c.1325C= (p.Pro442=) | |
| 19 | g.4816411G>T | CA403488459 | TICAM1 | c.1967C>A (p.Pro656His) c.1480-11C>A (n.1480-11C>A) c.1925C>A (p.Pro642His) c.1832C>A (p.Pro611His) c.1325C>A (p.Pro442His) | |
| 19 | g.4816412G>A | CA403488461 | TICAM1 | c.1966C>T (p.Pro656Ser) c.1480-12C>T (n.1480-12C>T) c.1924C>T (p.Pro642Ser) c.1831C>T (p.Pro611Ser) c.1324C>T (p.Pro442Ser) | gnomAD v4 |
| 19 | g.4816412G>C | CA403488460 | TICAM1 | c.1966C>G (p.Pro656Ala) c.1480-12C>G (n.1480-12C>G) c.1924C>G (p.Pro642Ala) c.1831C>G (p.Pro611Ala) c.1324C>G (p.Pro442Ala) | |
| 19 | g.4816412G= | CA2319604860 | TICAM1 | c.1966C= (p.Pro656=) c.1480-12C= (n.1480-12C=) c.1924C= (p.Pro642=) c.1831C= (p.Pro611=) c.1324C= (p.Pro442=) | |
| 19 | g.4816412G>T | CA9105026 | TICAM1 | c.1966C>A (p.Pro656Thr) c.1480-12C>A (n.1480-12C>A) c.1924C>A (p.Pro642Thr) c.1831C>A (p.Pro611Thr) c.1324C>A (p.Pro442Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816413C>A | CA505173886 | TICAM1 | c.1965G>T (p.Leu655=) c.1480-13G>T (n.1480-13G>T) c.1923G>T (p.Leu641=) c.1830G>T (p.Leu610=) c.1323G>T (p.Leu441=) | gnomAD v4 |
| 19 | g.4816413C>G | CA505173887 | TICAM1 | c.1965G>C (p.Leu655=) c.1480-13G>C (n.1480-13G>C) c.1923G>C (p.Leu641=) c.1830G>C (p.Leu610=) c.1323G>C (p.Leu441=) | |
| 19 | g.4816413C>T | CA505173888 | TICAM1 | c.1965G>A (p.Leu655=) c.1480-13G>A (n.1480-13G>A) c.1923G>A (p.Leu641=) c.1830G>A (p.Leu610=) c.1323G>A (p.Leu441=) | gnomAD v4 |
| 19 | g.4816414A>C | CA403488462 | TICAM1 | c.1964T>G (p.Leu655Arg) c.1480-14T>G (n.1480-14T>G) c.1922T>G (p.Leu641Arg) c.1829T>G (p.Leu610Arg) c.1322T>G (p.Leu441Arg) | |
| 19 | g.4816414A>G | CA403488463 | TICAM1 | c.1964T>C (p.Leu655Pro) c.1480-14T>C (n.1480-14T>C) c.1922T>C (p.Leu641Pro) c.1829T>C (p.Leu610Pro) c.1322T>C (p.Leu441Pro) | gnomAD v4 |
| 19 | g.4816414A>T | CA403488464 | TICAM1 | c.1964T>A (p.Leu655Gln) c.1480-14T>A (n.1480-14T>A) c.1922T>A (p.Leu641Gln) c.1829T>A (p.Leu610Gln) c.1322T>A (p.Leu441Gln) | |
| 19 | g.4816415G>A | CA505173890 | TICAM1 | c.1963C>T (p.Leu655=) c.1480-15C>T (n.1480-15C>T) c.1921C>T (p.Leu641=) c.1828C>T (p.Leu610=) c.1321C>T (p.Leu441=) | gnomAD v4 |
| 19 | g.4816415G>C | CA403488465 | TICAM1 | c.1963C>G (p.Leu655Val) c.1480-15C>G (n.1480-15C>G) c.1921C>G (p.Leu641Val) c.1828C>G (p.Leu610Val) c.1321C>G (p.Leu441Val) | |
| 19 | g.4816415G>T | CA403488466 | TICAM1 | c.1963C>A (p.Leu655Met) c.1480-15C>A (n.1480-15C>A) c.1921C>A (p.Leu641Met) c.1828C>A (p.Leu610Met) c.1321C>A (p.Leu441Met) | |
| 19 | g.4816416T>A | CA505173891 | TICAM1 | c.1962A>T (p.Ser654=) c.1480-16A>T (n.1480-16A>T) c.1920A>T (p.Ser640=) c.1827A>T (p.Ser609=) c.1320A>T (p.Ser440=) | gnomAD v4 |
| 19 | g.4816416T>C | CA505173892 | TICAM1 | c.1962A>G (p.Ser654=) c.1480-16A>G (n.1480-16A>G) c.1920A>G (p.Ser640=) c.1827A>G (p.Ser609=) c.1320A>G (p.Ser440=) | |
| 19 | g.4816416T>G | CA505173893 | TICAM1 | c.1962A>C (p.Ser654=) c.1480-16A>C (n.1480-16A>C) c.1920A>C (p.Ser640=) c.1827A>C (p.Ser609=) c.1320A>C (p.Ser440=) | gnomAD v4 |
| 19 | g.4816417G>A | CA403488467 | TICAM1 | c.1961C>T (p.Ser654Leu) c.1480-17C>T (n.1480-17C>T) c.1919C>T (p.Ser640Leu) c.1826C>T (p.Ser609Leu) c.1319C>T (p.Ser440Leu) | |
| 19 | g.4816417G>C | CA403488468 | TICAM1 | c.1961C>G (p.Ser654Ter) c.1480-17C>G (n.1480-17C>G) c.1919C>G (p.Ser640Ter) c.1826C>G (p.Ser609Ter) c.1319C>G (p.Ser440Ter) | |
| 19 | g.4816417G>T | CA403488469 | TICAM1 | c.1961C>A (p.Ser654Ter) c.1480-17C>A (n.1480-17C>A) c.1919C>A (p.Ser640Ter) c.1826C>A (p.Ser609Ter) c.1319C>A (p.Ser440Ter) | |
| 19 | g.4816418A= | CA2319604861 | TICAM1 | c.1960T= (p.Ser654=) c.1480-18T= (n.1480-18T=) c.1918T= (p.Ser640=) c.1825T= (p.Ser609=) c.1318T= (p.Ser440=) | |
| 19 | g.4816418A>C | CA403488470 | TICAM1 | c.1960T>G (p.Ser654Ala) c.1480-18T>G (n.1480-18T>G) c.1918T>G (p.Ser640Ala) c.1825T>G (p.Ser609Ala) c.1318T>G (p.Ser440Ala) | |
| 19 | g.4816418A>G | CA9105027 | TICAM1 | c.1960T>C (p.Ser654Pro) c.1480-18T>C (n.1480-18T>C) c.1918T>C (p.Ser640Pro) c.1825T>C (p.Ser609Pro) c.1318T>C (p.Ser440Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816418A>T | CA403488471 | TICAM1 | c.1960T>A (p.Ser654Thr) c.1480-18T>A (n.1480-18T>A) c.1918T>A (p.Ser640Thr) c.1825T>A (p.Ser609Thr) c.1318T>A (p.Ser440Thr) | |
| 19 | g.4816419C>A | CA403488472 | TICAM1 | c.1959G>T (p.Gln653His) c.1480-19G>T (n.1480-19G>T) c.1917G>T (p.Gln639His) c.1824G>T (p.Gln608His) c.1317G>T (p.Gln439His) | gnomAD v4 |
| 19 | g.4816419C= | CA2319604862 | TICAM1 | c.1959G= (p.Gln653=) c.1480-19G= (n.1480-19G=) c.1917G= (p.Gln639=) c.1824G= (p.Gln608=) c.1317G= (p.Gln439=) | |
| 19 | g.4816419C>G | CA403488473 | TICAM1 | c.1959G>C (p.Gln653His) c.1480-19G>C (n.1480-19G>C) c.1917G>C (p.Gln639His) c.1824G>C (p.Gln608His) c.1317G>C (p.Gln439His) | |
| 19 | g.4816419C>T | CA9105028 | TICAM1 | c.1959G>A (p.Gln653=) c.1480-19G>A (n.1480-19G>A) c.1917G>A (p.Gln639=) c.1824G>A (p.Gln608=) c.1317G>A (p.Gln439=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816420T>A | CA403488476 | TICAM1 | c.1958A>T (p.Gln653Leu) c.1480-20A>T (n.1480-20A>T) c.1916A>T (p.Gln639Leu) c.1823A>T (p.Gln608Leu) c.1316A>T (p.Gln439Leu) | |
| 19 | g.4816420T>C | CA403488475 | TICAM1 | c.1958A>G (p.Gln653Arg) c.1480-20A>G (n.1480-20A>G) c.1916A>G (p.Gln639Arg) c.1823A>G (p.Gln608Arg) c.1316A>G (p.Gln439Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816420T>G | CA403488474 | TICAM1 | c.1958A>C (p.Gln653Pro) c.1480-20A>C (n.1480-20A>C) c.1916A>C (p.Gln639Pro) c.1823A>C (p.Gln608Pro) c.1316A>C (p.Gln439Pro) | |
| 19 | g.4816420T= | CA2319604863 | TICAM1 | c.1958A= (p.Gln653=) c.1480-20A= (n.1480-20A=) c.1916A= (p.Gln639=) c.1823A= (p.Gln608=) c.1316A= (p.Gln439=) | |
| 19 | g.4816422_4816423del | CA2586031827 | TICAM1 | c.1957_1958del (p.Gln653ValfsTer?) c.1480-21_1480-20del (n.1480-21_1480-20del) c.1915_1916del (p.Gln639ValfsTer?) c.1822_1823del (p.Gln608ValfsTer?) c.1315_1316del (p.Gln439ValfsTer?) | gnomAD v4 |
| 19 | g.4816421G>A | CA403488477 | TICAM1 | c.1957C>T (p.Gln653Ter) c.1480-21C>T (n.1480-21C>T) c.1915C>T (p.Gln639Ter) c.1822C>T (p.Gln608Ter) c.1315C>T (p.Gln439Ter) | gnomAD v4 |
| 19 | g.4816421G>C | CA403488478 | TICAM1 | c.1957C>G (p.Gln653Glu) c.1480-21C>G (n.1480-21C>G) c.1915C>G (p.Gln639Glu) c.1822C>G (p.Gln608Glu) c.1315C>G (p.Gln439Glu) | |
| 19 | g.4816421G>T | CA403488479 | TICAM1 | c.1957C>A (p.Gln653Lys) c.1480-21C>A (n.1480-21C>A) c.1915C>A (p.Gln639Lys) c.1822C>A (p.Gln608Lys) c.1315C>A (p.Gln439Lys) | gnomAD v4 |
| 19 | g.4816422T>A | CA505173899 | TICAM1 | c.1956A>T (p.Pro652=) c.1480-22A>T (n.1480-22A>T) c.1914A>T (p.Pro638=) c.1821A>T (p.Pro607=) c.1314A>T (p.Pro438=) | |
| 19 | g.4816422T>C | CA505173900 | TICAM1 | c.1956A>G (p.Pro652=) c.1480-22A>G (n.1480-22A>G) c.1914A>G (p.Pro638=) c.1821A>G (p.Pro607=) c.1314A>G (p.Pro438=) | |
| 19 | g.4816422T>G | CA505173901 | TICAM1 | c.1956A>C (p.Pro652=) c.1480-22A>C (n.1480-22A>C) c.1914A>C (p.Pro638=) c.1821A>C (p.Pro607=) c.1314A>C (p.Pro438=) | gnomAD v3 gnomAD v4 |
| 19 | g.4816423G>A | CA403488480 | TICAM1 | c.1955C>T (p.Pro652Leu) c.1480-23C>T (n.1480-23C>T) c.1913C>T (p.Pro638Leu) c.1820C>T (p.Pro607Leu) c.1313C>T (p.Pro438Leu) | |
| 19 | g.4816423G>C | CA403488481 | TICAM1 | c.1955C>G (p.Pro652Arg) c.1480-23C>G (n.1480-23C>G) c.1913C>G (p.Pro638Arg) c.1820C>G (p.Pro607Arg) c.1313C>G (p.Pro438Arg) | |
| 19 | g.4816423G= | CA2319604864 | TICAM1 | c.1955C= (p.Pro652=) c.1480-23C= (n.1480-23C=) c.1913C= (p.Pro638=) c.1820C= (p.Pro607=) c.1313C= (p.Pro438=) | |
| 19 | g.4816423G>T | CA9105029 | TICAM1 | c.1955C>A (p.Pro652Gln) c.1480-23C>A (n.1480-23C>A) c.1913C>A (p.Pro638Gln) c.1820C>A (p.Pro607Gln) c.1313C>A (p.Pro438Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816424del | CA2586031828 | TICAM1 | c.1955del (p.Pro652HisfsTer?) c.1480-23del (n.1480-23del) c.1913del (p.Pro638HisfsTer?) c.1820del (p.Pro607HisfsTer?) c.1313del (p.Pro438HisfsTer?) | gnomAD v4 |