| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816239T>A | CA403487826 | TICAM1 | c.2139A>T (p.Ter713Cys) c.1641A>T (p.Ter547Cys) c.2097A>T (p.Ter699Cys) c.2004A>T (p.Ter668Cys) c.1497A>T (p.Ter499Cys) | gnomAD v4 |
| 19 | g.4816239T>C | CA403487827 | TICAM1 | c.2139A>G (p.Ter713Trp) c.1641A>G (p.Ter547Trp) c.2097A>G (p.Ter699Trp) c.2004A>G (p.Ter668Trp) c.1497A>G (p.Ter499Trp) | gnomAD v4 |
| 19 | g.4816239T>G | CA403487828 | TICAM1 | c.2139A>C (p.Ter713Cys) c.1641A>C (p.Ter547Cys) c.2097A>C (p.Ter699Cys) c.2004A>C (p.Ter668Cys) c.1497A>C (p.Ter499Cys) | |
| 19 | g.4816240C>A | CA403487829 | TICAM1 | c.2138G>T (p.Ter713Leu) c.1640G>T (p.Ter547Leu) c.2096G>T (p.Ter699Leu) c.2003G>T (p.Ter668Leu) c.1496G>T (p.Ter499Leu) | gnomAD v4 |
| 19 | g.4816240C>G | CA403487831 | TICAM1 | c.2138G>C (p.Ter713Ser) c.1640G>C (p.Ter547Ser) c.2096G>C (p.Ter699Ser) c.2003G>C (p.Ter668Ser) c.1496G>C (p.Ter499Ser) | |
| 19 | g.4816240C>T | CA505173447 | TICAM1 | c.2138G>A (p.Ter713=) c.1640G>A (p.Ter547=) c.2096G>A (p.Ter699=) c.2003G>A (p.Ter668=) c.1496G>A (p.Ter499=) | |
| 19 | g.4816241A>C | CA403487833 | TICAM1 | c.2137T>G (p.Ter713Gly) c.1639T>G (p.Ter547Gly) c.2095T>G (p.Ter699Gly) c.2002T>G (p.Ter668Gly) c.1495T>G (p.Ter499Gly) | |
| 19 | g.4816241A>G | CA403487836 | TICAM1 | c.2137T>C (p.Ter713Arg) c.1639T>C (p.Ter547Arg) c.2095T>C (p.Ter699Arg) c.2002T>C (p.Ter668Arg) c.1495T>C (p.Ter499Arg) | |
| 19 | g.4816241A>T | CA403487834 | TICAM1 | c.2137T>A (p.Ter713Arg) c.1639T>A (p.Ter547Arg) c.2095T>A (p.Ter699Arg) c.2002T>A (p.Ter668Arg) c.1495T>A (p.Ter499Arg) | gnomAD v4 |
| 19 | g.4816242T>A | CA403487839 | TICAM1 | c.2136A>T (p.Glu712Asp) c.1638A>T (p.Glu546Asp) c.2094A>T (p.Glu698Asp) c.2001A>T (p.Glu667Asp) c.1494A>T (p.Glu498Asp) | |
| 19 | g.4816242T>C | CA505173448 | TICAM1 | c.2136A>G (p.Glu712=) c.1638A>G (p.Glu546=) c.2094A>G (p.Glu698=) c.2001A>G (p.Glu667=) c.1494A>G (p.Glu498=) | gnomAD v4 |
| 19 | g.4816242T>G | CA403487840 | TICAM1 | c.2136A>C (p.Glu712Asp) c.1638A>C (p.Glu546Asp) c.2094A>C (p.Glu698Asp) c.2001A>C (p.Glu667Asp) c.1494A>C (p.Glu498Asp) | |
| 19 | g.4816243T>A | CA403487844 | TICAM1 | c.2135A>T (p.Glu712Val) c.1637A>T (p.Glu546Val) c.2093A>T (p.Glu698Val) c.2000A>T (p.Glu667Val) c.1493A>T (p.Glu498Val) | |
| 19 | g.4816243T>C | CA403487846 | TICAM1 | c.2135A>G (p.Glu712Gly) c.1637A>G (p.Glu546Gly) c.2093A>G (p.Glu698Gly) c.2000A>G (p.Glu667Gly) c.1493A>G (p.Glu498Gly) | |
| 19 | g.4816243T>G | CA403487848 | TICAM1 | c.2135A>C (p.Glu712Ala) c.1637A>C (p.Glu546Ala) c.2093A>C (p.Glu698Ala) c.2000A>C (p.Glu667Ala) c.1493A>C (p.Glu498Ala) | |
| 19 | g.4816244C>A | CA403487850 | TICAM1 | c.2134G>T (p.Glu712Ter) c.1636G>T (p.Glu546Ter) c.2092G>T (p.Glu698Ter) c.1999G>T (p.Glu667Ter) c.1492G>T (p.Glu498Ter) | |
| 19 | g.4816244C>G | CA403487852 | TICAM1 | c.2134G>C (p.Glu712Gln) c.1636G>C (p.Glu546Gln) c.2092G>C (p.Glu698Gln) c.1999G>C (p.Glu667Gln) c.1492G>C (p.Glu498Gln) | |
| 19 | g.4816244C>T | CA403487854 | TICAM1 | c.2134G>A (p.Glu712Lys) c.1636G>A (p.Glu546Lys) c.2092G>A (p.Glu698Lys) c.1999G>A (p.Glu667Lys) c.1492G>A (p.Glu498Lys) | gnomAD v4 |
| 19 | g.4816245T>A | CA505173456 | TICAM1 | c.2133A>T (p.Ala711=) c.1635A>T (p.Ala545=) c.2091A>T (p.Ala697=) c.1998A>T (p.Ala666=) c.1491A>T (p.Ala497=) | |
| 19 | g.4816245T>C | CA505173457 | TICAM1 | c.2133A>G (p.Ala711=) c.1635A>G (p.Ala545=) c.2091A>G (p.Ala697=) c.1998A>G (p.Ala666=) c.1491A>G (p.Ala497=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816245T>G | CA505173458 | TICAM1 | c.2133A>C (p.Ala711=) c.1635A>C (p.Ala545=) c.2091A>C (p.Ala697=) c.1998A>C (p.Ala666=) c.1491A>C (p.Ala497=) | |
| 19 | g.4816245T= | CA2319604786 | TICAM1 | c.2133A= (p.Ala711=) c.1635A= (p.Ala545=) c.2091A= (p.Ala697=) c.1998A= (p.Ala666=) c.1491A= (p.Ala497=) | |
| 19 | g.4816246G>A | CA403487857 | TICAM1 | c.2132C>T (p.Ala711Val) c.1634C>T (p.Ala545Val) c.2090C>T (p.Ala697Val) c.1997C>T (p.Ala666Val) c.1490C>T (p.Ala497Val) | gnomAD v4 |
| 19 | g.4816246G>C | CA403487859 | TICAM1 | c.2132C>G (p.Ala711Gly) c.1634C>G (p.Ala545Gly) c.2090C>G (p.Ala697Gly) c.1997C>G (p.Ala666Gly) c.1490C>G (p.Ala497Gly) | |
| 19 | g.4816246G>T | CA403487861 | TICAM1 | c.2132C>A (p.Ala711Glu) c.1634C>A (p.Ala545Glu) c.2090C>A (p.Ala697Glu) c.1997C>A (p.Ala666Glu) c.1490C>A (p.Ala497Glu) | gnomAD v4 |
| 19 | g.4816247C>A | CA403487863 | TICAM1 | c.2131G>T (p.Ala711Ser) c.1633G>T (p.Ala545Ser) c.2089G>T (p.Ala697Ser) c.1996G>T (p.Ala666Ser) c.1489G>T (p.Ala497Ser) | gnomAD v4 |
| 19 | g.4816247C= | CA2319604787 | TICAM1 | c.2131G= (p.Ala711=) c.1633G= (p.Ala545=) c.2089G= (p.Ala697=) c.1996G= (p.Ala666=) c.1489G= (p.Ala497=) | |
| 19 | g.4816247C>G | CA403487866 | TICAM1 | c.2131G>C (p.Ala711Pro) c.1633G>C (p.Ala545Pro) c.2089G>C (p.Ala697Pro) c.1996G>C (p.Ala666Pro) c.1489G>C (p.Ala497Pro) | |
| 19 | g.4816247C>T | CA9104987 | TICAM1 | c.2131G>A (p.Ala711Thr) c.1633G>A (p.Ala545Thr) c.2089G>A (p.Ala697Thr) c.1996G>A (p.Ala666Thr) c.1489G>A (p.Ala497Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816248C>A | CA403487871 | TICAM1 | c.2130G>T (p.Glu710Asp) c.1632G>T (p.Glu544Asp) c.2088G>T (p.Glu696Asp) c.1995G>T (p.Glu665Asp) c.1488G>T (p.Glu496Asp) | gnomAD v4 |
| 19 | g.4816248C>G | CA403487870 | TICAM1 | c.2130G>C (p.Glu710Asp) c.1632G>C (p.Glu544Asp) c.2088G>C (p.Glu696Asp) c.1995G>C (p.Glu665Asp) c.1488G>C (p.Glu496Asp) | |
| 19 | g.4816248C>T | CA505173466 | TICAM1 | c.2130G>A (p.Glu710=) c.1632G>A (p.Glu544=) c.2088G>A (p.Glu696=) c.1995G>A (p.Glu665=) c.1488G>A (p.Glu496=) | gnomAD v4 |
| 19 | g.4816249T>A | CA403487875 | TICAM1 | c.2129A>T (p.Glu710Val) c.1631A>T (p.Glu544Val) c.2087A>T (p.Glu696Val) c.1994A>T (p.Glu665Val) c.1487A>T (p.Glu496Val) | |
| 19 | g.4816249T>C | CA403487877 | TICAM1 | c.2129A>G (p.Glu710Gly) c.1631A>G (p.Glu544Gly) c.2087A>G (p.Glu696Gly) c.1994A>G (p.Glu665Gly) c.1487A>G (p.Glu496Gly) | |
| 19 | g.4816249T>G | CA403487879 | TICAM1 | c.2129A>C (p.Glu710Ala) c.1631A>C (p.Glu544Ala) c.2087A>C (p.Glu696Ala) c.1994A>C (p.Glu665Ala) c.1487A>C (p.Glu496Ala) | |
| 19 | g.4816250C>A | CA403487881 | TICAM1 | c.2128G>T (p.Glu710Ter) c.1630G>T (p.Glu544Ter) c.2086G>T (p.Glu696Ter) c.1993G>T (p.Glu665Ter) c.1486G>T (p.Glu496Ter) | |
| 19 | g.4816250C= | CA2319604788 | TICAM1 | c.2128G= (p.Glu710=) c.1630G= (p.Glu544=) c.2086G= (p.Glu696=) c.1993G= (p.Glu665=) c.1486G= (p.Glu496=) | |
| 19 | g.4816250C>G | CA403487883 | TICAM1 | c.2128G>C (p.Glu710Gln) c.1630G>C (p.Glu544Gln) c.2086G>C (p.Glu696Gln) c.1993G>C (p.Glu665Gln) c.1486G>C (p.Glu496Gln) | |
| 19 | g.4816250C>T | CA403487885 | TICAM1 | c.2128G>A (p.Glu710Lys) c.1630G>A (p.Glu544Lys) c.2086G>A (p.Glu696Lys) c.1993G>A (p.Glu665Lys) c.1486G>A (p.Glu496Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816251C>A | CA403487888 | TICAM1 | c.2127G>T (p.Gln709His) c.1629G>T (p.Gln543His) c.2085G>T (p.Gln695His) c.1992G>T (p.Gln664His) c.1485G>T (p.Gln495His) | gnomAD v4 |
| 19 | g.4816251C>G | CA403487890 | TICAM1 | c.2127G>C (p.Gln709His) c.1629G>C (p.Gln543His) c.2085G>C (p.Gln695His) c.1992G>C (p.Gln664His) c.1485G>C (p.Gln495His) | |
| 19 | g.4816251C>T | CA505173478 | TICAM1 | c.2127G>A (p.Gln709=) c.1629G>A (p.Gln543=) c.2085G>A (p.Gln695=) c.1992G>A (p.Gln664=) c.1485G>A (p.Gln495=) | |
| 19 | g.4816252T>A | CA403487892 | TICAM1 | c.2126A>T (p.Gln709Leu) c.1628A>T (p.Gln543Leu) c.2084A>T (p.Gln695Leu) c.1991A>T (p.Gln664Leu) c.1484A>T (p.Gln495Leu) | |
| 19 | g.4816252T>C | CA403487894 | TICAM1 | c.2126A>G (p.Gln709Arg) c.1628A>G (p.Gln543Arg) c.2084A>G (p.Gln695Arg) c.1991A>G (p.Gln664Arg) c.1484A>G (p.Gln495Arg) | gnomAD v4 |
| 19 | g.4816252T>G | CA403487895 | TICAM1 | c.2126A>C (p.Gln709Pro) c.1628A>C (p.Gln543Pro) c.2084A>C (p.Gln695Pro) c.1991A>C (p.Gln664Pro) c.1484A>C (p.Gln495Pro) | |
| 19 | g.4816253G>A | CA403487903 | TICAM1 | c.2125C>T (p.Gln709Ter) c.1627C>T (p.Gln543Ter) c.2083C>T (p.Gln695Ter) c.1990C>T (p.Gln664Ter) c.1483C>T (p.Gln495Ter) | |
| 19 | g.4816253G>C | CA403487901 | TICAM1 | c.2125C>G (p.Gln709Glu) c.1627C>G (p.Gln543Glu) c.2083C>G (p.Gln695Glu) c.1990C>G (p.Gln664Glu) c.1483C>G (p.Gln495Glu) | |
| 19 | g.4816253G>T | CA403487898 | TICAM1 | c.2125C>A (p.Gln709Lys) c.1627C>A (p.Gln543Lys) c.2083C>A (p.Gln695Lys) c.1990C>A (p.Gln664Lys) c.1483C>A (p.Gln495Lys) | gnomAD v4 |
| 19 | g.4816254C>A | CA505173480 | TICAM1 | c.2124G>T (p.Thr708=) c.1626G>T (p.Thr542=) c.2082G>T (p.Thr694=) c.1989G>T (p.Thr663=) c.1482G>T (p.Thr494=) | gnomAD v4 |
| 19 | g.4816254C= | CA2319604789 | TICAM1 | c.2124G= (p.Thr708=) c.1626G= (p.Thr542=) c.2082G= (p.Thr694=) c.1989G= (p.Thr663=) c.1482G= (p.Thr494=) | |
| 19 | g.4816254C>G | CA505173481 | TICAM1 | c.2124G>C (p.Thr708=) c.1626G>C (p.Thr542=) c.2082G>C (p.Thr694=) c.1989G>C (p.Thr663=) c.1482G>C (p.Thr494=) | |
| 19 | g.4816254C>T | CA9104988 | TICAM1 | c.2124G>A (p.Thr708=) c.1626G>A (p.Thr542=) c.2082G>A (p.Thr694=) c.1989G>A (p.Thr663=) c.1482G>A (p.Thr494=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816255G>A | CA403487907 | TICAM1 | c.2123C>T (p.Thr708Met) c.1625C>T (p.Thr542Met) c.2081C>T (p.Thr694Met) c.1988C>T (p.Thr663Met) c.1481C>T (p.Thr494Met) | gnomAD v4 |
| 19 | g.4816255G>C | CA403487909 | TICAM1 | c.2123C>G (p.Thr708Arg) c.1625C>G (p.Thr542Arg) c.2081C>G (p.Thr694Arg) c.1988C>G (p.Thr663Arg) c.1481C>G (p.Thr494Arg) | |
| 19 | g.4816255G>T | CA403487911 | TICAM1 | c.2123C>A (p.Thr708Lys) c.1625C>A (p.Thr542Lys) c.2081C>A (p.Thr694Lys) c.1988C>A (p.Thr663Lys) c.1481C>A (p.Thr494Lys) | gnomAD v4 |
| 19 | g.4816256T>A | CA403487914 | TICAM1 | c.2122A>T (p.Thr708Ser) c.1624A>T (p.Thr542Ser) c.2080A>T (p.Thr694Ser) c.1987A>T (p.Thr663Ser) c.1480A>T (p.Thr494Ser) | |
| 19 | g.4816256T>C | CA403487916 | TICAM1 | c.2122A>G (p.Thr708Ala) c.1624A>G (p.Thr542Ala) c.2080A>G (p.Thr694Ala) c.1987A>G (p.Thr663Ala) c.1480A>G (p.Thr494Ala) | |
| 19 | g.4816256T>G | CA403487918 | TICAM1 | c.2122A>C (p.Thr708Pro) c.1624A>C (p.Thr542Pro) c.2080A>C (p.Thr694Pro) c.1987A>C (p.Thr663Pro) c.1480A>C (p.Thr494Pro) | |
| 19 | g.4816257C>A | CA403487921 | TICAM1 | c.2121G>T (p.Lys707Asn) c.1623G>T (p.Lys541Asn) c.2079G>T (p.Lys693Asn) c.1986G>T (p.Lys662Asn) c.1479G>T (p.Lys493Asn) | |
| 19 | g.4816257C>G | CA403487923 | TICAM1 | c.2121G>C (p.Lys707Asn) c.1623G>C (p.Lys541Asn) c.2079G>C (p.Lys693Asn) c.1986G>C (p.Lys662Asn) c.1479G>C (p.Lys493Asn) | |
| 19 | g.4816257C>T | CA505173484 | TICAM1 | c.2121G>A (p.Lys707=) c.1623G>A (p.Lys541=) c.2079G>A (p.Lys693=) c.1986G>A (p.Lys662=) c.1479G>A (p.Lys493=) | |
| 19 | g.4816258T>A | CA403487926 | TICAM1 | c.2120A>T (p.Lys707Met) c.1622A>T (p.Lys541Met) c.2078A>T (p.Lys693Met) c.1985A>T (p.Lys662Met) c.1478A>T (p.Lys493Met) | gnomAD v4 |
| 19 | g.4816258T>C | CA403487928 | TICAM1 | c.2120A>G (p.Lys707Arg) c.1622A>G (p.Lys541Arg) c.2078A>G (p.Lys693Arg) c.1985A>G (p.Lys662Arg) c.1478A>G (p.Lys493Arg) | COSMIC |
| 19 | g.4816258T>G | CA403487930 | TICAM1 | c.2120A>C (p.Lys707Thr) c.1622A>C (p.Lys541Thr) c.2078A>C (p.Lys693Thr) c.1985A>C (p.Lys662Thr) c.1478A>C (p.Lys493Thr) | |
| 19 | g.4816259T>A | CA403487936 | TICAM1 | c.2119A>T (p.Lys707Ter) c.1621A>T (p.Lys541Ter) c.2077A>T (p.Lys693Ter) c.1984A>T (p.Lys662Ter) c.1477A>T (p.Lys493Ter) | |
| 19 | g.4816259T>C | CA403487932 | TICAM1 | c.2119A>G (p.Lys707Glu) c.1621A>G (p.Lys541Glu) c.2077A>G (p.Lys693Glu) c.1984A>G (p.Lys662Glu) c.1477A>G (p.Lys493Glu) | dbSNP |
| 19 | g.4816259T>G | CA403487934 | TICAM1 | c.2119A>C (p.Lys707Gln) c.1621A>C (p.Lys541Gln) c.2077A>C (p.Lys693Gln) c.1984A>C (p.Lys662Gln) c.1477A>C (p.Lys493Gln) | |
| 19 | g.4816259T= | CA2319604790 | TICAM1 | c.2119A= (p.Lys707=) c.1621A= (p.Lys541=) c.2077A= (p.Lys693=) c.1984A= (p.Lys662=) c.1477A= (p.Lys493=) | |
| 19 | g.4816260G>A | CA304546833 | TICAM1 | c.2118C>T (p.Asp706=) c.1620C>T (p.Asp540=) c.2076C>T (p.Asp692=) c.1983C>T (p.Asp661=) c.1476C>T (p.Asp492=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816260G>C | CA403487940 | TICAM1 | c.2118C>G (p.Asp706Glu) c.1620C>G (p.Asp540Glu) c.2076C>G (p.Asp692Glu) c.1983C>G (p.Asp661Glu) c.1476C>G (p.Asp492Glu) | dbSNP |
| 19 | g.4816260G= | CA2319604791 | TICAM1 | c.2118C= (p.Asp706=) c.1620C= (p.Asp540=) c.2076C= (p.Asp692=) c.1983C= (p.Asp661=) c.1476C= (p.Asp492=) | |
| 19 | g.4816260G>T | CA403487941 | TICAM1 | c.2118C>A (p.Asp706Glu) c.1620C>A (p.Asp540Glu) c.2076C>A (p.Asp692Glu) c.1983C>A (p.Asp661Glu) c.1476C>A (p.Asp492Glu) | gnomAD v4 |
| 19 | g.4816261T>A | CA403487944 | TICAM1 | c.2117A>T (p.Asp706Val) c.1619A>T (p.Asp540Val) c.2075A>T (p.Asp692Val) c.1982A>T (p.Asp661Val) c.1475A>T (p.Asp492Val) | |
| 19 | g.4816261T>C | CA403487946 | TICAM1 | c.2117A>G (p.Asp706Gly) c.1619A>G (p.Asp540Gly) c.2075A>G (p.Asp692Gly) c.1982A>G (p.Asp661Gly) c.1475A>G (p.Asp492Gly) | gnomAD v4 |
| 19 | g.4816261T>G | CA403487947 | TICAM1 | c.2117A>C (p.Asp706Ala) c.1619A>C (p.Asp540Ala) c.2075A>C (p.Asp692Ala) c.1982A>C (p.Asp661Ala) c.1475A>C (p.Asp492Ala) | |
| 19 | g.4816262C>A | CA403487950 | TICAM1 | c.2116G>T (p.Asp706Tyr) c.1618G>T (p.Asp540Tyr) c.2074G>T (p.Asp692Tyr) c.1981G>T (p.Asp661Tyr) c.1474G>T (p.Asp492Tyr) | gnomAD v4 |
| 19 | g.4816262C>G | CA403487952 | TICAM1 | c.2116G>C (p.Asp706His) c.1618G>C (p.Asp540His) c.2074G>C (p.Asp692His) c.1981G>C (p.Asp661His) c.1474G>C (p.Asp492His) | |
| 19 | g.4816262C>T | CA403487954 | TICAM1 | c.2116G>A (p.Asp706Asn) c.1618G>A (p.Asp540Asn) c.2074G>A (p.Asp692Asn) c.1981G>A (p.Asp661Asn) c.1474G>A (p.Asp492Asn) | |
| 19 | g.4816263C>A | CA403487957 | TICAM1 | c.2115G>T (p.Glu705Asp) c.1617G>T (p.Glu539Asp) c.2073G>T (p.Glu691Asp) c.1980G>T (p.Glu660Asp) c.1473G>T (p.Glu491Asp) | gnomAD v4 |
| 19 | g.4816263C= | CA2319604792 | TICAM1 | c.2115G= (p.Glu705=) c.1617G= (p.Glu539=) c.2073G= (p.Glu691=) c.1980G= (p.Glu660=) c.1473G= (p.Glu491=) | |
| 19 | g.4816263C>G | CA403487958 | TICAM1 | c.2115G>C (p.Glu705Asp) c.1617G>C (p.Glu539Asp) c.2073G>C (p.Glu691Asp) c.1980G>C (p.Glu660Asp) c.1473G>C (p.Glu491Asp) | |
| 19 | g.4816263C>T | CA505173504 | TICAM1 | c.2115G>A (p.Glu705=) c.1617G>A (p.Glu539=) c.2073G>A (p.Glu691=) c.1980G>A (p.Glu660=) c.1473G>A (p.Glu491=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816264T>A | CA403487963 | TICAM1 | c.2114A>T (p.Glu705Val) c.1616A>T (p.Glu539Val) c.2072A>T (p.Glu691Val) c.1979A>T (p.Glu660Val) c.1472A>T (p.Glu491Val) | |
| 19 | g.4816264T>C | CA403487965 | TICAM1 | c.2114A>G (p.Glu705Gly) c.1616A>G (p.Glu539Gly) c.2072A>G (p.Glu691Gly) c.1979A>G (p.Glu660Gly) c.1472A>G (p.Glu491Gly) | |
| 19 | g.4816264T>G | CA403487962 | TICAM1 | c.2114A>C (p.Glu705Ala) c.1616A>C (p.Glu539Ala) c.2072A>C (p.Glu691Ala) c.1979A>C (p.Glu660Ala) c.1472A>C (p.Glu491Ala) | |
| 19 | g.4816265C>A | CA403487970 | TICAM1 | c.2113G>T (p.Glu705Ter) c.1615G>T (p.Glu539Ter) c.2071G>T (p.Glu691Ter) c.1978G>T (p.Glu660Ter) c.1471G>T (p.Glu491Ter) | gnomAD v4 |
| 19 | g.4816265C= | CA2319604793 | TICAM1 | c.2113G= (p.Glu705=) c.1615G= (p.Glu539=) c.2071G= (p.Glu691=) c.1978G= (p.Glu660=) c.1471G= (p.Glu491=) | |
| 19 | g.4816265C>G | CA403487968 | TICAM1 | c.2113G>C (p.Glu705Gln) c.1615G>C (p.Glu539Gln) c.2071G>C (p.Glu691Gln) c.1978G>C (p.Glu660Gln) c.1471G>C (p.Glu491Gln) | |
| 19 | g.4816265C>T | CA9104989 | TICAM1 | c.2113G>A (p.Glu705Lys) c.1615G>A (p.Glu539Lys) c.2071G>A (p.Glu691Lys) c.1978G>A (p.Glu660Lys) c.1471G>A (p.Glu491Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816266G>A | CA9104990 | TICAM1 | c.2112C>T (p.Pro704=) c.1614C>T (p.Pro538=) c.2070C>T (p.Pro690=) c.1977C>T (p.Pro659=) c.1470C>T (p.Pro490=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816266G>C | CA505173513 | TICAM1 | c.2112C>G (p.Pro704=) c.1614C>G (p.Pro538=) c.2070C>G (p.Pro690=) c.1977C>G (p.Pro659=) c.1470C>G (p.Pro490=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.4816266G= | CA2319604794 | TICAM1 | c.2112C= (p.Pro704=) c.1614C= (p.Pro538=) c.2070C= (p.Pro690=) c.1977C= (p.Pro659=) c.1470C= (p.Pro490=) | |
| 19 | g.4816266G>T | CA505173515 | TICAM1 | c.2112C>A (p.Pro704=) c.1614C>A (p.Pro538=) c.2070C>A (p.Pro690=) c.1977C>A (p.Pro659=) c.1470C>A (p.Pro490=) | gnomAD v4 |
| 19 | g.4816267G>A | CA403487972 | TICAM1 | c.2111C>T (p.Pro704Leu) c.1613C>T (p.Pro538Leu) c.2069C>T (p.Pro690Leu) c.1976C>T (p.Pro659Leu) c.1469C>T (p.Pro490Leu) | |
| 19 | g.4816267G>C | CA403487975 | TICAM1 | c.2111C>G (p.Pro704Arg) c.1613C>G (p.Pro538Arg) c.2069C>G (p.Pro690Arg) c.1976C>G (p.Pro659Arg) c.1469C>G (p.Pro490Arg) | |
| 19 | g.4816267G>T | CA403487977 | TICAM1 | c.2111C>A (p.Pro704His) c.1613C>A (p.Pro538His) c.2069C>A (p.Pro690His) c.1976C>A (p.Pro659His) c.1469C>A (p.Pro490His) | gnomAD v4 |
| 19 | g.4816268G>A | CA403487979 | TICAM1 | c.2110C>T (p.Pro704Ser) c.1612C>T (p.Pro538Ser) c.2068C>T (p.Pro690Ser) c.1975C>T (p.Pro659Ser) c.1468C>T (p.Pro490Ser) | dbSNP gnomAD v2 |
| 19 | g.4816268G>C | CA403487981 | TICAM1 | c.2110C>G (p.Pro704Ala) c.1612C>G (p.Pro538Ala) c.2068C>G (p.Pro690Ala) c.1975C>G (p.Pro659Ala) c.1468C>G (p.Pro490Ala) | |
| 19 | g.4816268G= | CA2319604795 | TICAM1 | c.2110C= (p.Pro704=) c.1612C= (p.Pro538=) c.2068C= (p.Pro690=) c.1975C= (p.Pro659=) c.1468C= (p.Pro490=) | |
| 19 | g.4816268G>T | CA403487982 | TICAM1 | c.2110C>A (p.Pro704Thr) c.1612C>A (p.Pro538Thr) c.2068C>A (p.Pro690Thr) c.1975C>A (p.Pro659Thr) c.1468C>A (p.Pro490Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816269C>A | CA505173527 | TICAM1 | c.2109G>T (p.Ala703=) c.1611G>T (p.Ala537=) c.2067G>T (p.Ala689=) c.1974G>T (p.Ala658=) c.1467G>T (p.Ala489=) | gnomAD v4 |
| 19 | g.4816269C= | CA2319604796 | TICAM1 | c.2109G= (p.Ala703=) c.1611G= (p.Ala537=) c.2067G= (p.Ala689=) c.1974G= (p.Ala658=) c.1467G= (p.Ala489=) | |
| 19 | g.4816269C>G | CA505173532 | TICAM1 | c.2109G>C (p.Ala703=) c.1611G>C (p.Ala537=) c.2067G>C (p.Ala689=) c.1974G>C (p.Ala658=) c.1467G>C (p.Ala489=) | |
| 19 | g.4816269C>T | CA505173530 | TICAM1 | c.2109G>A (p.Ala703=) c.1611G>A (p.Ala537=) c.2067G>A (p.Ala689=) c.1974G>A (p.Ala658=) c.1467G>A (p.Ala489=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816270G>A | CA403487984 | TICAM1 | c.2108C>T (p.Ala703Val) c.1610C>T (p.Ala537Val) c.2066C>T (p.Ala689Val) c.1973C>T (p.Ala658Val) c.1466C>T (p.Ala489Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816270G>C | CA403487992 | TICAM1 | c.2108C>G (p.Ala703Gly) c.1610C>G (p.Ala537Gly) c.2066C>G (p.Ala689Gly) c.1973C>G (p.Ala658Gly) c.1466C>G (p.Ala489Gly) | |
| 19 | g.4816270G= | CA2319604797 | TICAM1 | c.2108C= (p.Ala703=) c.1610C= (p.Ala537=) c.2066C= (p.Ala689=) c.1973C= (p.Ala658=) c.1466C= (p.Ala489=) | |
| 19 | g.4816270G>T | CA403487994 | TICAM1 | c.2108C>A (p.Ala703Glu) c.1610C>A (p.Ala537Glu) c.2066C>A (p.Ala689Glu) c.1973C>A (p.Ala658Glu) c.1466C>A (p.Ala489Glu) | gnomAD v4 |
| 19 | g.4816271C>A | CA403487998 | TICAM1 | c.2107G>T (p.Ala703Ser) c.1609G>T (p.Ala537Ser) c.2065G>T (p.Ala689Ser) c.1972G>T (p.Ala658Ser) c.1465G>T (p.Ala489Ser) | |
| 19 | g.4816271C= | CA2319604798 | TICAM1 | c.2107G= (p.Ala703=) c.1609G= (p.Ala537=) c.2065G= (p.Ala689=) c.1972G= (p.Ala658=) c.1465G= (p.Ala489=) | |
| 19 | g.4816271C>G | CA403488000 | TICAM1 | c.2107G>C (p.Ala703Pro) c.1609G>C (p.Ala537Pro) c.2065G>C (p.Ala689Pro) c.1972G>C (p.Ala658Pro) c.1465G>C (p.Ala489Pro) | |
| 19 | g.4816271C>T | CA9104991 | TICAM1 | c.2107G>A (p.Ala703Thr) c.1609G>A (p.Ala537Thr) c.2065G>A (p.Ala689Thr) c.1972G>A (p.Ala658Thr) c.1465G>A (p.Ala489Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816272C>A | CA403488002 | TICAM1 | c.2106G>T (p.Gln702His) c.1608G>T (p.Gln536His) c.2064G>T (p.Gln688His) c.1971G>T (p.Gln657His) c.1464G>T (p.Gln488His) | |
| 19 | g.4816272C>G | CA403488004 | TICAM1 | c.2106G>C (p.Gln702His) c.1608G>C (p.Gln536His) c.2064G>C (p.Gln688His) c.1971G>C (p.Gln657His) c.1464G>C (p.Gln488His) | |
| 19 | g.4816272C>T | CA505173534 | TICAM1 | c.2106G>A (p.Gln702=) c.1608G>A (p.Gln536=) c.2064G>A (p.Gln688=) c.1971G>A (p.Gln657=) c.1464G>A (p.Gln488=) | |
| 19 | g.4816273T>A | CA403488006 | TICAM1 | c.2105A>T (p.Gln702Leu) c.1607A>T (p.Gln536Leu) c.2063A>T (p.Gln688Leu) c.1970A>T (p.Gln657Leu) c.1463A>T (p.Gln488Leu) | |
| 19 | g.4816273T>C | CA403488007 | TICAM1 | c.2105A>G (p.Gln702Arg) c.1607A>G (p.Gln536Arg) c.2063A>G (p.Gln688Arg) c.1970A>G (p.Gln657Arg) c.1463A>G (p.Gln488Arg) | gnomAD v4 |
| 19 | g.4816273T>G | CA403488009 | TICAM1 | c.2105A>C (p.Gln702Pro) c.1607A>C (p.Gln536Pro) c.2063A>C (p.Gln688Pro) c.1970A>C (p.Gln657Pro) c.1463A>C (p.Gln488Pro) | |
| 19 | g.4816274G>A | CA403488014 | TICAM1 | c.2104C>T (p.Gln702Ter) c.1606C>T (p.Gln536Ter) c.2062C>T (p.Gln688Ter) c.1969C>T (p.Gln657Ter) c.1462C>T (p.Gln488Ter) | gnomAD v4 |
| 19 | g.4816274G>C | CA403488011 | TICAM1 | c.2104C>G (p.Gln702Glu) c.1606C>G (p.Gln536Glu) c.2062C>G (p.Gln688Glu) c.1969C>G (p.Gln657Glu) c.1462C>G (p.Gln488Glu) | |
| 19 | g.4816274G>T | CA403488012 | TICAM1 | c.2104C>A (p.Gln702Lys) c.1606C>A (p.Gln536Lys) c.2062C>A (p.Gln688Lys) c.1969C>A (p.Gln657Lys) c.1462C>A (p.Gln488Lys) | gnomAD v4 |
| 19 | g.4816276del | CA2586031815 | TICAM1 | c.2104del (p.Gln702ArgfsTer?) c.1606del (p.Gln536ArgfsTer?) c.2062del (p.Gln688ArgfsTer?) c.1969del (p.Gln657ArgfsTer?) c.1462del (p.Gln488ArgfsTer?) | gnomAD v4 |
| 19 | g.4816275G>A | CA505173542 | TICAM1 | c.2103C>T (p.Ser701=) c.1605C>T (p.Ser535=) c.2061C>T (p.Ser687=) c.1968C>T (p.Ser656=) c.1461C>T (p.Ser487=) | gnomAD v4 |
| 19 | g.4816275G>C | CA505173543 | TICAM1 | c.2103C>G (p.Ser701=) c.1605C>G (p.Ser535=) c.2061C>G (p.Ser687=) c.1968C>G (p.Ser656=) c.1461C>G (p.Ser487=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816275G= | CA2319604799 | TICAM1 | c.2103C= (p.Ser701=) c.1605C= (p.Ser535=) c.2061C= (p.Ser687=) c.1968C= (p.Ser656=) c.1461C= (p.Ser487=) | |
| 19 | g.4816275G>T | CA505173545 | TICAM1 | c.2103C>A (p.Ser701=) c.1605C>A (p.Ser535=) c.2061C>A (p.Ser687=) c.1968C>A (p.Ser656=) c.1461C>A (p.Ser487=) | gnomAD v4 |
| 19 | g.4816276G>A | CA403488017 | TICAM1 | c.2102C>T (p.Ser701Phe) c.1604C>T (p.Ser535Phe) c.2060C>T (p.Ser687Phe) c.1967C>T (p.Ser656Phe) c.1460C>T (p.Ser487Phe) | |
| 19 | g.4816276G>C | CA403488019 | TICAM1 | c.2102C>G (p.Ser701Cys) c.1604C>G (p.Ser535Cys) c.2060C>G (p.Ser687Cys) c.1967C>G (p.Ser656Cys) c.1460C>G (p.Ser487Cys) | |
| 19 | g.4816276G>T | CA403488021 | TICAM1 | c.2102C>A (p.Ser701Tyr) c.1604C>A (p.Ser535Tyr) c.2060C>A (p.Ser687Tyr) c.1967C>A (p.Ser656Tyr) c.1460C>A (p.Ser487Tyr) | gnomAD v4 |
| 19 | g.4816277A= | CA2319604800 | TICAM1 | c.2101T= (p.Ser701=) c.1603T= (p.Ser535=) c.2059T= (p.Ser687=) c.1966T= (p.Ser656=) c.1459T= (p.Ser487=) | |
| 19 | g.4816277A>C | CA403488024 | TICAM1 | c.2101T>G (p.Ser701Ala) c.1603T>G (p.Ser535Ala) c.2059T>G (p.Ser687Ala) c.1966T>G (p.Ser656Ala) c.1459T>G (p.Ser487Ala) | |
| 19 | g.4816277A>G | CA403488025 | TICAM1 | c.2101T>C (p.Ser701Pro) c.1603T>C (p.Ser535Pro) c.2059T>C (p.Ser687Pro) c.1966T>C (p.Ser656Pro) c.1459T>C (p.Ser487Pro) | gnomAD v4 |
| 19 | g.4816277A>T | CA403488027 | TICAM1 | c.2101T>A (p.Ser701Thr) c.1603T>A (p.Ser535Thr) c.2059T>A (p.Ser687Thr) c.1966T>A (p.Ser656Thr) c.1459T>A (p.Ser487Thr) | dbSNP |
| 19 | g.4816278C>A | CA505173551 | TICAM1 | c.2100G>T (p.Gly700=) c.1602G>T (p.Gly534=) c.2058G>T (p.Gly686=) c.1965G>T (p.Gly655=) c.1458G>T (p.Gly486=) | dbSNP gnomAD v4 |
| 19 | g.4816278C= | CA2319604801 | TICAM1 | c.2100G= (p.Gly700=) c.1602G= (p.Gly534=) c.2058G= (p.Gly686=) c.1965G= (p.Gly655=) c.1458G= (p.Gly486=) | |
| 19 | g.4816278C>G | CA505173550 | TICAM1 | c.2100G>C (p.Gly700=) c.1602G>C (p.Gly534=) c.2058G>C (p.Gly686=) c.1965G>C (p.Gly655=) c.1458G>C (p.Gly486=) | |
| 19 | g.4816278C>T | CA9104992 | TICAM1 | c.2100G>A (p.Gly700=) c.1602G>A (p.Gly534=) c.2058G>A (p.Gly686=) c.1965G>A (p.Gly655=) c.1458G>A (p.Gly486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816279C>A | CA403488034 | TICAM1 | c.2099G>T (p.Gly700Val) c.1601G>T (p.Gly534Val) c.2057G>T (p.Gly686Val) c.1964G>T (p.Gly655Val) c.1457G>T (p.Gly486Val) | gnomAD v4 |
| 19 | g.4816279C= | CA2319604802 | TICAM1 | c.2099G= (p.Gly700=) c.1601G= (p.Gly534=) c.2057G= (p.Gly686=) c.1964G= (p.Gly655=) c.1457G= (p.Gly486=) | |
| 19 | g.4816279C>G | CA403488031 | TICAM1 | c.2099G>C (p.Gly700Ala) c.1601G>C (p.Gly534Ala) c.2057G>C (p.Gly686Ala) c.1964G>C (p.Gly655Ala) c.1457G>C (p.Gly486Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816279C>T | CA403488032 | TICAM1 | c.2099G>A (p.Gly700Glu) c.1601G>A (p.Gly534Glu) c.2057G>A (p.Gly686Glu) c.1964G>A (p.Gly655Glu) c.1457G>A (p.Gly486Glu) | gnomAD v4 |
| 19 | g.4816280C>A | CA403488036 | TICAM1 | c.2098G>T (p.Gly700Trp) c.1600G>T (p.Gly534Trp) c.2056G>T (p.Gly686Trp) c.1963G>T (p.Gly655Trp) c.1456G>T (p.Gly486Trp) | gnomAD v4 |
| 19 | g.4816280C>G | CA403488038 | TICAM1 | c.2098G>C (p.Gly700Arg) c.1600G>C (p.Gly534Arg) c.2056G>C (p.Gly686Arg) c.1963G>C (p.Gly655Arg) c.1456G>C (p.Gly486Arg) | |
| 19 | g.4816280C>T | CA403488040 | TICAM1 | c.2098G>A (p.Gly700Arg) c.1600G>A (p.Gly534Arg) c.2056G>A (p.Gly686Arg) c.1963G>A (p.Gly655Arg) c.1456G>A (p.Gly486Arg) | |
| 19 | g.4816284_4816285del | CA2586031816 | TICAM1 | c.2097_2098del (p.Gly700ValfsTer?) c.1599_1600del (p.Gly534ValfsTer?) c.2055_2056del (p.Gly686ValfsTer?) c.1962_1963del (p.Gly655ValfsTer?) c.1455_1456del (p.Gly486ValfsTer?) | gnomAD v4 |
| 19 | g.4816281T>A | CA403488042 | TICAM1 | c.2097A>T (p.Arg699Ser) c.1599A>T (p.Arg533Ser) c.2055A>T (p.Arg685Ser) c.1962A>T (p.Arg654Ser) c.1455A>T (p.Arg485Ser) | |
| 19 | g.4816281T>C | CA505173560 | TICAM1 | c.2097A>G (p.Arg699=) c.1599A>G (p.Arg533=) c.2055A>G (p.Arg685=) c.1962A>G (p.Arg654=) c.1455A>G (p.Arg485=) | gnomAD v4 |
| 19 | g.4816281T>G | CA403488044 | TICAM1 | c.2097A>C (p.Arg699Ser) c.1599A>C (p.Arg533Ser) c.2055A>C (p.Arg685Ser) c.1962A>C (p.Arg654Ser) c.1455A>C (p.Arg485Ser) | |
| 19 | g.4816282C>A | CA403488047 | TICAM1 | c.2096G>T (p.Arg699Ile) c.1598G>T (p.Arg533Ile) c.2054G>T (p.Arg685Ile) c.1961G>T (p.Arg654Ile) c.1454G>T (p.Arg485Ile) | |
| 19 | g.4816282C>G | CA403488049 | TICAM1 | c.2096G>C (p.Arg699Thr) c.1598G>C (p.Arg533Thr) c.2054G>C (p.Arg685Thr) c.1961G>C (p.Arg654Thr) c.1454G>C (p.Arg485Thr) | gnomAD v4 |
| 19 | g.4816282C>T | CA403488048 | TICAM1 | c.2096G>A (p.Arg699Lys) c.1598G>A (p.Arg533Lys) c.2054G>A (p.Arg685Lys) c.1961G>A (p.Arg654Lys) c.1454G>A (p.Arg485Lys) | |
| 19 | g.4816283T>A | CA403488051 | TICAM1 | c.2095A>T (p.Arg699Ter) c.1597A>T (p.Arg533Ter) c.2053A>T (p.Arg685Ter) c.1960A>T (p.Arg654Ter) c.1453A>T (p.Arg485Ter) | |
| 19 | g.4816283T>C | CA403488053 | TICAM1 | c.2095A>G (p.Arg699Gly) c.1597A>G (p.Arg533Gly) c.2053A>G (p.Arg685Gly) c.1960A>G (p.Arg654Gly) c.1453A>G (p.Arg485Gly) | gnomAD v4 |
| 19 | g.4816283T>G | CA505173565 | TICAM1 | c.2095A>C (p.Arg699=) c.1597A>C (p.Arg533=) c.2053A>C (p.Arg685=) c.1960A>C (p.Arg654=) c.1453A>C (p.Arg485=) | |
| 19 | g.4816284C>A | CA403488056 | TICAM1 | c.2094G>T (p.Gln698His) c.1596G>T (p.Gln532His) c.2052G>T (p.Gln684His) c.1959G>T (p.Gln653His) c.1452G>T (p.Gln484His) | gnomAD v4 |
| 19 | g.4816284C= | CA2319604803 | TICAM1 | c.2094G= (p.Gln698=) c.1596G= (p.Gln532=) c.2052G= (p.Gln684=) c.1959G= (p.Gln653=) c.1452G= (p.Gln484=) | |
| 19 | g.4816284C>G | CA403488057 | TICAM1 | c.2094G>C (p.Gln698His) c.1596G>C (p.Gln532His) c.2052G>C (p.Gln684His) c.1959G>C (p.Gln653His) c.1452G>C (p.Gln484His) | |
| 19 | g.4816284C>T | CA505173569 | TICAM1 | c.2094G>A (p.Gln698=) c.1596G>A (p.Gln532=) c.2052G>A (p.Gln684=) c.1959G>A (p.Gln653=) c.1452G>A (p.Gln484=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816285T>A | CA403488061 | TICAM1 | c.2093A>T (p.Gln698Leu) c.1595A>T (p.Gln532Leu) c.2051A>T (p.Gln684Leu) c.1958A>T (p.Gln653Leu) c.1451A>T (p.Gln484Leu) | |
| 19 | g.4816285T>C | CA403488065 | TICAM1 | c.2093A>G (p.Gln698Arg) c.1595A>G (p.Gln532Arg) c.2051A>G (p.Gln684Arg) c.1958A>G (p.Gln653Arg) c.1451A>G (p.Gln484Arg) | gnomAD v4 |
| 19 | g.4816285T>G | CA403488063 | TICAM1 | c.2093A>C (p.Gln698Pro) c.1595A>C (p.Gln532Pro) c.2051A>C (p.Gln684Pro) c.1958A>C (p.Gln653Pro) c.1451A>C (p.Gln484Pro) | |
| 19 | g.4816286G>A | CA403488067 | TICAM1 | c.2092C>T (p.Gln698Ter) c.1594C>T (p.Gln532Ter) c.2050C>T (p.Gln684Ter) c.1957C>T (p.Gln653Ter) c.1450C>T (p.Gln484Ter) | |
| 19 | g.4816286G>C | CA403488069 | TICAM1 | c.2092C>G (p.Gln698Glu) c.1594C>G (p.Gln532Glu) c.2050C>G (p.Gln684Glu) c.1957C>G (p.Gln653Glu) c.1450C>G (p.Gln484Glu) | |
| 19 | g.4816286G>T | CA403488071 | TICAM1 | c.2092C>A (p.Gln698Lys) c.1594C>A (p.Gln532Lys) c.2050C>A (p.Gln684Lys) c.1957C>A (p.Gln653Lys) c.1450C>A (p.Gln484Lys) | gnomAD v4 |
| 19 | g.4816287G>A | CA9104993 | TICAM1 | c.2091C>T (p.Asn697=) c.1593C>T (p.Asn531=) c.2049C>T (p.Asn683=) c.1956C>T (p.Asn652=) c.1449C>T (p.Asn483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816287G>C | CA403488074 | TICAM1 | c.2091C>G (p.Asn697Lys) c.1593C>G (p.Asn531Lys) c.2049C>G (p.Asn683Lys) c.1956C>G (p.Asn652Lys) c.1449C>G (p.Asn483Lys) | |
| 19 | g.4816287G= | CA2319604804 | TICAM1 | c.2091C= (p.Asn697=) c.1593C= (p.Asn531=) c.2049C= (p.Asn683=) c.1956C= (p.Asn652=) c.1449C= (p.Asn483=) | |
| 19 | g.4816287G>T | CA403488076 | TICAM1 | c.2091C>A (p.Asn697Lys) c.1593C>A (p.Asn531Lys) c.2049C>A (p.Asn683Lys) c.1956C>A (p.Asn652Lys) c.1449C>A (p.Asn483Lys) | gnomAD v4 |
| 19 | g.4816288T>A | CA403488079 | TICAM1 | c.2090A>T (p.Asn697Ile) c.1592A>T (p.Asn531Ile) c.2048A>T (p.Asn683Ile) c.1955A>T (p.Asn652Ile) c.1448A>T (p.Asn483Ile) | |
| 19 | g.4816288T>C | CA403488081 | TICAM1 | c.2090A>G (p.Asn697Ser) c.1592A>G (p.Asn531Ser) c.2048A>G (p.Asn683Ser) c.1955A>G (p.Asn652Ser) c.1448A>G (p.Asn483Ser) | |
| 19 | g.4816288T>G | CA403488082 | TICAM1 | c.2090A>C (p.Asn697Thr) c.1592A>C (p.Asn531Thr) c.2048A>C (p.Asn683Thr) c.1955A>C (p.Asn652Thr) c.1448A>C (p.Asn483Thr) | |
| 19 | g.4816289T>A | CA403488083 | TICAM1 | c.2089A>T (p.Asn697Tyr) c.1591A>T (p.Asn531Tyr) c.2047A>T (p.Asn683Tyr) c.1954A>T (p.Asn652Tyr) c.1447A>T (p.Asn483Tyr) | |
| 19 | g.4816289T>C | CA403488085 | TICAM1 | c.2089A>G (p.Asn697Asp) c.1591A>G (p.Asn531Asp) c.2047A>G (p.Asn683Asp) c.1954A>G (p.Asn652Asp) c.1447A>G (p.Asn483Asp) | |
| 19 | g.4816289T>G | CA403488087 | TICAM1 | c.2089A>C (p.Asn697His) c.1591A>C (p.Asn531His) c.2047A>C (p.Asn683His) c.1954A>C (p.Asn652His) c.1447A>C (p.Asn483His) | |
| 19 | g.4816290C>A | CA403488091 | TICAM1 | c.2088G>T (p.Trp696Cys) c.1590G>T (p.Trp530Cys) c.2046G>T (p.Trp682Cys) c.1953G>T (p.Trp651Cys) c.1446G>T (p.Trp482Cys) | gnomAD v4 |
| 19 | g.4816290C>G | CA403488093 | TICAM1 | c.2088G>C (p.Trp696Cys) c.1590G>C (p.Trp530Cys) c.2046G>C (p.Trp682Cys) c.1953G>C (p.Trp651Cys) c.1446G>C (p.Trp482Cys) | |
| 19 | g.4816290C>T | CA403488089 | TICAM1 | c.2088G>A (p.Trp696Ter) c.1590G>A (p.Trp530Ter) c.2046G>A (p.Trp682Ter) c.1953G>A (p.Trp651Ter) c.1446G>A (p.Trp482Ter) | |
| 19 | g.4816291del | CA2586031817 | TICAM1 | c.2088del (p.Trp696Ter) c.1590del (p.Trp530Ter) c.2046del (p.Trp682Ter) c.1953del (p.Trp651Ter) c.1446del (p.Trp482Ter) | gnomAD v4 |
| 19 | g.4816291C>A | CA403488098 | TICAM1 | c.2087G>T (p.Trp696Leu) c.1589G>T (p.Trp530Leu) c.2045G>T (p.Trp682Leu) c.1952G>T (p.Trp651Leu) c.1445G>T (p.Trp482Leu) | gnomAD v4 |
| 19 | g.4816291C>G | CA403488095 | TICAM1 | c.2087G>C (p.Trp696Ser) c.1589G>C (p.Trp530Ser) c.2045G>C (p.Trp682Ser) c.1952G>C (p.Trp651Ser) c.1445G>C (p.Trp482Ser) | |
| 19 | g.4816291C>T | CA403488100 | TICAM1 | c.2087G>A (p.Trp696Ter) c.1589G>A (p.Trp530Ter) c.2045G>A (p.Trp682Ter) c.1952G>A (p.Trp651Ter) c.1445G>A (p.Trp482Ter) | gnomAD v4 |
| 19 | g.4816292A>C | CA403488102 | TICAM1 | c.2086T>G (p.Trp696Gly) c.1588T>G (p.Trp530Gly) c.2044T>G (p.Trp682Gly) c.1951T>G (p.Trp651Gly) c.1444T>G (p.Trp482Gly) | gnomAD v4 |
| 19 | g.4816292A>G | CA403488106 | TICAM1 | c.2086T>C (p.Trp696Arg) c.1588T>C (p.Trp530Arg) c.2044T>C (p.Trp682Arg) c.1951T>C (p.Trp651Arg) c.1444T>C (p.Trp482Arg) | gnomAD v4 |
| 19 | g.4816292A>T | CA403488104 | TICAM1 | c.2086T>A (p.Trp696Arg) c.1588T>A (p.Trp530Arg) c.2044T>A (p.Trp682Arg) c.1951T>A (p.Trp651Arg) c.1444T>A (p.Trp482Arg) | |
| 19 | g.4816293C>A | CA304546853 | TICAM1 | c.2085G>T (p.Met695Ile) c.1587G>T (p.Met529Ile) c.2043G>T (p.Met681Ile) c.1950G>T (p.Met650Ile) c.1443G>T (p.Met481Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816293C= | CA2319604805 | TICAM1 | c.2085G= (p.Met695=) c.1587G= (p.Met529=) c.2043G= (p.Met681=) c.1950G= (p.Met650=) c.1443G= (p.Met481=) | |
| 19 | g.4816293C>G | CA9104995 | TICAM1 | c.2085G>C (p.Met695Ile) c.1587G>C (p.Met529Ile) c.2043G>C (p.Met681Ile) c.1950G>C (p.Met650Ile) c.1443G>C (p.Met481Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816293C>T | CA9104994 | TICAM1 | c.2085G>A (p.Met695Ile) c.1587G>A (p.Met529Ile) c.2043G>A (p.Met681Ile) c.1950G>A (p.Met650Ile) c.1443G>A (p.Met481Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816294A= | CA2319604806 | TICAM1 | c.2084T= (p.Met695=) c.1586T= (p.Met529=) c.2042T= (p.Met681=) c.1949T= (p.Met650=) c.1442T= (p.Met481=) | |
| 19 | g.4816294A>C | CA403488113 | TICAM1 | c.2084T>G (p.Met695Arg) c.1586T>G (p.Met529Arg) c.2042T>G (p.Met681Arg) c.1949T>G (p.Met650Arg) c.1442T>G (p.Met481Arg) | |
| 19 | g.4816294A>G | CA9104996 | TICAM1 | c.2084T>C (p.Met695Thr) c.1586T>C (p.Met529Thr) c.2042T>C (p.Met681Thr) c.1949T>C (p.Met650Thr) c.1442T>C (p.Met481Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816294A>T | CA403488116 | TICAM1 | c.2084T>A (p.Met695Lys) c.1586T>A (p.Met529Lys) c.2042T>A (p.Met681Lys) c.1949T>A (p.Met650Lys) c.1442T>A (p.Met481Lys) | |
| 19 | g.4816295T>A | CA403488118 | TICAM1 | c.2083A>T (p.Met695Leu) c.1585A>T (p.Met529Leu) c.2041A>T (p.Met681Leu) c.1948A>T (p.Met650Leu) c.1441A>T (p.Met481Leu) | |
| 19 | g.4816295T>C | CA9104997 | TICAM1 | c.2083A>G (p.Met695Val) c.1585A>G (p.Met529Val) c.2041A>G (p.Met681Val) c.1948A>G (p.Met650Val) c.1441A>G (p.Met481Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816295T>G | CA403488121 | TICAM1 | c.2083A>C (p.Met695Leu) c.1585A>C (p.Met529Leu) c.2041A>C (p.Met681Leu) c.1948A>C (p.Met650Leu) c.1441A>C (p.Met481Leu) | |
| 19 | g.4816295T= | CA2319604807 | TICAM1 | c.2083A= (p.Met695=) c.1585A= (p.Met529=) c.2041A= (p.Met681=) c.1948A= (p.Met650=) c.1441A= (p.Met481=) | |
| 19 | g.4816296G>A | CA505173588 | TICAM1 | c.2082C>T (p.His694=) c.1584C>T (p.His528=) c.2040C>T (p.His680=) c.1947C>T (p.His649=) c.1440C>T (p.His480=) | |
| 19 | g.4816296G>C | CA403488123 | TICAM1 | c.2082C>G (p.His694Gln) c.1584C>G (p.His528Gln) c.2040C>G (p.His680Gln) c.1947C>G (p.His649Gln) c.1440C>G (p.His480Gln) | |
| 19 | g.4816296G>T | CA403488124 | TICAM1 | c.2082C>A (p.His694Gln) c.1584C>A (p.His528Gln) c.2040C>A (p.His680Gln) c.1947C>A (p.His649Gln) c.1440C>A (p.His480Gln) | gnomAD v4 |
| 19 | g.4816297T>A | CA403488130 | TICAM1 | c.2081A>T (p.His694Leu) c.1583A>T (p.His528Leu) c.2039A>T (p.His680Leu) c.1946A>T (p.His649Leu) c.1439A>T (p.His480Leu) | gnomAD v4 |
| 19 | g.4816297T>C | CA304546868 | TICAM1 | c.2081A>G (p.His694Arg) c.1583A>G (p.His528Arg) c.2039A>G (p.His680Arg) c.1946A>G (p.His649Arg) c.1439A>G (p.His480Arg) | dbSNP gnomAD v4 COSMIC |
| 19 | g.4816297T>G | CA403488128 | TICAM1 | c.2081A>C (p.His694Pro) c.1583A>C (p.His528Pro) c.2039A>C (p.His680Pro) c.1946A>C (p.His649Pro) c.1439A>C (p.His480Pro) | |
| 19 | g.4816297T= | CA2319604808 | TICAM1 | c.2081A= (p.His694=) c.1583A= (p.His528=) c.2039A= (p.His680=) c.1946A= (p.His649=) c.1439A= (p.His480=) | |
| 19 | g.4816298G>A | CA403488132 | TICAM1 | c.2080C>T (p.His694Tyr) c.1582C>T (p.His528Tyr) c.2038C>T (p.His680Tyr) c.1945C>T (p.His649Tyr) c.1438C>T (p.His480Tyr) | |
| 19 | g.4816298G>C | CA403488133 | TICAM1 | c.2080C>G (p.His694Asp) c.1582C>G (p.His528Asp) c.2038C>G (p.His680Asp) c.1945C>G (p.His649Asp) c.1438C>G (p.His480Asp) | gnomAD v4 |
| 19 | g.4816298G= | CA2319604809 | TICAM1 | c.2080C= (p.His694=) c.1582C= (p.His528=) c.2038C= (p.His680=) c.1945C= (p.His649=) c.1438C= (p.His480=) | |
| 19 | g.4816298G>T | CA9104998 | TICAM1 | c.2080C>A (p.His694Asn) c.1582C>A (p.His528Asn) c.2038C>A (p.His680Asn) c.1945C>A (p.His649Asn) c.1438C>A (p.His480Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816299G>A | CA505173595 | TICAM1 | c.2079C>T (p.Asn693=) c.1581C>T (p.Asn527=) c.2037C>T (p.Asn679=) c.1944C>T (p.Asn648=) c.1437C>T (p.Asn479=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816299G>C | CA403488134 | TICAM1 | c.2079C>G (p.Asn693Lys) c.1581C>G (p.Asn527Lys) c.2037C>G (p.Asn679Lys) c.1944C>G (p.Asn648Lys) c.1437C>G (p.Asn479Lys) | |
| 19 | g.4816299G= | CA2319604810 | TICAM1 | c.2079C= (p.Asn693=) c.1581C= (p.Asn527=) c.2037C= (p.Asn679=) c.1944C= (p.Asn648=) c.1437C= (p.Asn479=) | |
| 19 | g.4816299G>T | CA403488136 | TICAM1 | c.2079C>A (p.Asn693Lys) c.1581C>A (p.Asn527Lys) c.2037C>A (p.Asn679Lys) c.1944C>A (p.Asn648Lys) c.1437C>A (p.Asn479Lys) | |
| 19 | g.4816300T>A | CA403488138 | TICAM1 | c.2078A>T (p.Asn693Ile) c.1580A>T (p.Asn527Ile) c.2036A>T (p.Asn679Ile) c.1943A>T (p.Asn648Ile) c.1436A>T (p.Asn479Ile) | |
| 19 | g.4816300T>C | CA403488140 | TICAM1 | c.2078A>G (p.Asn693Ser) c.1580A>G (p.Asn527Ser) c.2036A>G (p.Asn679Ser) c.1943A>G (p.Asn648Ser) c.1436A>G (p.Asn479Ser) | gnomAD v4 |
| 19 | g.4816300T>G | CA403488142 | TICAM1 | c.2078A>C (p.Asn693Thr) c.1580A>C (p.Asn527Thr) c.2036A>C (p.Asn679Thr) c.1943A>C (p.Asn648Thr) c.1436A>C (p.Asn479Thr) | |
| 19 | g.4816301T>A | CA403488145 | TICAM1 | c.2077A>T (p.Asn693Tyr) c.1579A>T (p.Asn527Tyr) c.2035A>T (p.Asn679Tyr) c.1942A>T (p.Asn648Tyr) c.1435A>T (p.Asn479Tyr) | |
| 19 | g.4816301T>C | CA403488146 | TICAM1 | c.2077A>G (p.Asn693Asp) c.1579A>G (p.Asn527Asp) c.2035A>G (p.Asn679Asp) c.1942A>G (p.Asn648Asp) c.1435A>G (p.Asn479Asp) | |
| 19 | g.4816301T>G | CA403488149 | TICAM1 | c.2077A>C (p.Asn693His) c.1579A>C (p.Asn527His) c.2035A>C (p.Asn679His) c.1942A>C (p.Asn648His) c.1435A>C (p.Asn479His) | |
| 19 | g.4816302G>A | CA505173606 | TICAM1 | c.2076C>T (p.Asn692=) c.1578C>T (p.Asn526=) c.2034C>T (p.Asn678=) c.1941C>T (p.Asn647=) c.1434C>T (p.Asn478=) | gnomAD v4 |
| 19 | g.4816302G>C | CA403488152 | TICAM1 | c.2076C>G (p.Asn692Lys) c.1578C>G (p.Asn526Lys) c.2034C>G (p.Asn678Lys) c.1941C>G (p.Asn647Lys) c.1434C>G (p.Asn478Lys) | |
| 19 | g.4816302G= | CA2319604811 | TICAM1 | c.2076C= (p.Asn692=) c.1578C= (p.Asn526=) c.2034C= (p.Asn678=) c.1941C= (p.Asn647=) c.1434C= (p.Asn478=) | |
| 19 | g.4816302G>T | CA9104999 | TICAM1 | c.2076C>A (p.Asn692Lys) c.1578C>A (p.Asn526Lys) c.2034C>A (p.Asn678Lys) c.1941C>A (p.Asn647Lys) c.1434C>A (p.Asn478Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816303T>A | CA403488154 | TICAM1 | c.2075A>T (p.Asn692Ile) c.1577A>T (p.Asn526Ile) c.2033A>T (p.Asn678Ile) c.1940A>T (p.Asn647Ile) c.1433A>T (p.Asn478Ile) | |
| 19 | g.4816303T>C | CA403488161 | TICAM1 | c.2075A>G (p.Asn692Ser) c.1577A>G (p.Asn526Ser) c.2033A>G (p.Asn678Ser) c.1940A>G (p.Asn647Ser) c.1433A>G (p.Asn478Ser) | gnomAD v4 |
| 19 | g.4816303T>G | CA403488162 | TICAM1 | c.2075A>C (p.Asn692Thr) c.1577A>C (p.Asn526Thr) c.2033A>C (p.Asn678Thr) c.1940A>C (p.Asn647Thr) c.1433A>C (p.Asn478Thr) | |
| 19 | g.4816304T>A | CA403488163 | TICAM1 | c.2074A>T (p.Asn692Tyr) c.1576A>T (p.Asn526Tyr) c.2032A>T (p.Asn678Tyr) c.1939A>T (p.Asn647Tyr) c.1432A>T (p.Asn478Tyr) | |
| 19 | g.4816304T>C | CA403488165 | TICAM1 | c.2074A>G (p.Asn692Asp) c.1576A>G (p.Asn526Asp) c.2032A>G (p.Asn678Asp) c.1939A>G (p.Asn647Asp) c.1432A>G (p.Asn478Asp) | |
| 19 | g.4816304T>G | CA9105000 | TICAM1 | c.2074A>C (p.Asn692His) c.1576A>C (p.Asn526His) c.2032A>C (p.Asn678His) c.1939A>C (p.Asn647His) c.1432A>C (p.Asn478His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816304T= | CA2319604812 | TICAM1 | c.2074A= (p.Asn692=) c.1576A= (p.Asn526=) c.2032A= (p.Asn678=) c.1939A= (p.Asn647=) c.1432A= (p.Asn478=) | |
| 19 | g.4816305C>A | CA505173611 | TICAM1 | c.2073G>T (p.Leu691=) c.1575G>T (p.Leu525=) c.2031G>T (p.Leu677=) c.1938G>T (p.Leu646=) c.1431G>T (p.Leu477=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.4816305C= | CA2319604813 | TICAM1 | c.2073G= (p.Leu691=) c.1575G= (p.Leu525=) c.2031G= (p.Leu677=) c.1938G= (p.Leu646=) c.1431G= (p.Leu477=) | |
| 19 | g.4816305C>G | CA505173614 | TICAM1 | c.2073G>C (p.Leu691=) c.1575G>C (p.Leu525=) c.2031G>C (p.Leu677=) c.1938G>C (p.Leu646=) c.1431G>C (p.Leu477=) | |
| 19 | g.4816305C>T | CA304546879 | TICAM1 | c.2073G>A (p.Leu691=) c.1575G>A (p.Leu525=) c.2031G>A (p.Leu677=) c.1938G>A (p.Leu646=) c.1431G>A (p.Leu477=) | dbSNP |
| 19 | g.4816306A>C | CA403488172 | TICAM1 | c.2072T>G (p.Leu691Arg) c.1574T>G (p.Leu525Arg) c.2030T>G (p.Leu677Arg) c.1937T>G (p.Leu646Arg) c.1430T>G (p.Leu477Arg) | |
| 19 | g.4816306A>G | CA403488169 | TICAM1 | c.2072T>C (p.Leu691Pro) c.1574T>C (p.Leu525Pro) c.2030T>C (p.Leu677Pro) c.1937T>C (p.Leu646Pro) c.1430T>C (p.Leu477Pro) | gnomAD v4 |
| 19 | g.4816306A>T | CA403488170 | TICAM1 | c.2072T>A (p.Leu691Gln) c.1574T>A (p.Leu525Gln) c.2030T>A (p.Leu677Gln) c.1937T>A (p.Leu646Gln) c.1430T>A (p.Leu477Gln) | |
| 19 | g.4816307G>A | CA505173616 | TICAM1 | c.2071C>T (p.Leu691=) c.1573C>T (p.Leu525=) c.2029C>T (p.Leu677=) c.1936C>T (p.Leu646=) c.1429C>T (p.Leu477=) | gnomAD v4 |
| 19 | g.4816307G>C | CA403488174 | TICAM1 | c.2071C>G (p.Leu691Val) c.1573C>G (p.Leu525Val) c.2029C>G (p.Leu677Val) c.1936C>G (p.Leu646Val) c.1429C>G (p.Leu477Val) | |
| 19 | g.4816307G>T | CA403488176 | TICAM1 | c.2071C>A (p.Leu691Met) c.1573C>A (p.Leu525Met) c.2029C>A (p.Leu677Met) c.1936C>A (p.Leu646Met) c.1429C>A (p.Leu477Met) | gnomAD v4 |
| 19 | g.4816308C>A | CA505173618 | TICAM1 | c.2070G>T (p.Gly690=) c.1572G>T (p.Gly524=) c.2028G>T (p.Gly676=) c.1935G>T (p.Gly645=) c.1428G>T (p.Gly476=) | gnomAD v4 |
| 19 | g.4816308C>G | CA505173619 | TICAM1 | c.2070G>C (p.Gly690=) c.1572G>C (p.Gly524=) c.2028G>C (p.Gly676=) c.1935G>C (p.Gly645=) c.1428G>C (p.Gly476=) | |
| 19 | g.4816308C>T | CA505173620 | TICAM1 | c.2070G>A (p.Gly690=) c.1572G>A (p.Gly524=) c.2028G>A (p.Gly676=) c.1935G>A (p.Gly645=) c.1428G>A (p.Gly476=) | gnomAD v4 |
| 19 | g.4816311del | CA2586031818 | TICAM1 | c.2070del (p.Leu691Ter) c.1572del (p.Leu525Ter) c.2028del (p.Leu677Ter) c.1935del (p.Leu646Ter) c.1428del (p.Leu477Ter) | gnomAD v4 |
| 19 | g.4816309C>A | CA403488179 | TICAM1 | c.2069G>T (p.Gly690Val) c.1571G>T (p.Gly524Val) c.2027G>T (p.Gly676Val) c.1934G>T (p.Gly645Val) c.1427G>T (p.Gly476Val) | gnomAD v4 |
| 19 | g.4816309C= | CA2319604814 | TICAM1 | c.2069G= (p.Gly690=) c.1571G= (p.Gly524=) c.2027G= (p.Gly676=) c.1934G= (p.Gly645=) c.1427G= (p.Gly476=) | |
| 19 | g.4816309C>G | CA403488181 | TICAM1 | c.2069G>C (p.Gly690Ala) c.1571G>C (p.Gly524Ala) c.2027G>C (p.Gly676Ala) c.1934G>C (p.Gly645Ala) c.1427G>C (p.Gly476Ala) | gnomAD v4 |
| 19 | g.4816309C>T | CA403488183 | TICAM1 | c.2069G>A (p.Gly690Glu) c.1571G>A (p.Gly524Glu) c.2027G>A (p.Gly676Glu) c.1934G>A (p.Gly645Glu) c.1427G>A (p.Gly476Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816310C>A | CA403488187 | TICAM1 | c.2068G>T (p.Gly690Trp) c.1570G>T (p.Gly524Trp) c.2026G>T (p.Gly676Trp) c.1933G>T (p.Gly645Trp) c.1426G>T (p.Gly476Trp) | gnomAD v4 |
| 19 | g.4816310C>G | CA403488190 | TICAM1 | c.2068G>C (p.Gly690Arg) c.1570G>C (p.Gly524Arg) c.2026G>C (p.Gly676Arg) c.1933G>C (p.Gly645Arg) c.1426G>C (p.Gly476Arg) | |
| 19 | g.4816310C>T | CA403488189 | TICAM1 | c.2068G>A (p.Gly690Arg) c.1570G>A (p.Gly524Arg) c.2026G>A (p.Gly676Arg) c.1933G>A (p.Gly645Arg) c.1426G>A (p.Gly476Arg) | |
| 19 | g.4816311C>A | CA505173628 | TICAM1 | c.2067G>T (p.Leu689=) c.1569G>T (p.Leu523=) c.2025G>T (p.Leu675=) c.1932G>T (p.Leu644=) c.1425G>T (p.Leu475=) | gnomAD v4 |
| 19 | g.4816311C>G | CA505173629 | TICAM1 | c.2067G>C (p.Leu689=) c.1569G>C (p.Leu523=) c.2025G>C (p.Leu675=) c.1932G>C (p.Leu644=) c.1425G>C (p.Leu475=) | |
| 19 | g.4816311C>T | CA505173630 | TICAM1 | c.2067G>A (p.Leu689=) c.1569G>A (p.Leu523=) c.2025G>A (p.Leu675=) c.1932G>A (p.Leu644=) c.1425G>A (p.Leu475=) | |
| 19 | g.4816312A>C | CA403488194 | TICAM1 | c.2066T>G (p.Leu689Arg) c.1568T>G (p.Leu523Arg) c.2024T>G (p.Leu675Arg) c.1931T>G (p.Leu644Arg) c.1424T>G (p.Leu475Arg) | |
| 19 | g.4816312A>G | CA403488196 | TICAM1 | c.2066T>C (p.Leu689Pro) c.1568T>C (p.Leu523Pro) c.2024T>C (p.Leu675Pro) c.1931T>C (p.Leu644Pro) c.1424T>C (p.Leu475Pro) | |
| 19 | g.4816312A>T | CA403488198 | TICAM1 | c.2066T>A (p.Leu689Gln) c.1568T>A (p.Leu523Gln) c.2024T>A (p.Leu675Gln) c.1931T>A (p.Leu644Gln) c.1424T>A (p.Leu475Gln) | gnomAD v4 |
| 19 | g.4816313G>A | CA505173632 | TICAM1 | c.2065C>T (p.Leu689=) c.1567C>T (p.Leu523=) c.2023C>T (p.Leu675=) c.1930C>T (p.Leu644=) c.1423C>T (p.Leu475=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816313G>C | CA403488200 | TICAM1 | c.2065C>G (p.Leu689Val) c.1567C>G (p.Leu523Val) c.2023C>G (p.Leu675Val) c.1930C>G (p.Leu644Val) c.1423C>G (p.Leu475Val) | |
| 19 | g.4816313G= | CA2319604815 | TICAM1 | c.2065C= (p.Leu689=) c.1567C= (p.Leu523=) c.2023C= (p.Leu675=) c.1930C= (p.Leu644=) c.1423C= (p.Leu475=) | |
| 19 | g.4816313G>T | CA403488202 | TICAM1 | c.2065C>A (p.Leu689Met) c.1567C>A (p.Leu523Met) c.2023C>A (p.Leu675Met) c.1930C>A (p.Leu644Met) c.1423C>A (p.Leu475Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816314C>A | CA403488204 | TICAM1 | c.2064G>T (p.Gln688His) c.1566G>T (p.Gln522His) c.2022G>T (p.Gln674His) c.1929G>T (p.Gln643His) c.1422G>T (p.Gln474His) | gnomAD v4 |
| 19 | g.4816314C= | CA2319604816 | TICAM1 | c.2064G= (p.Gln688=) c.1566G= (p.Gln522=) c.2022G= (p.Gln674=) c.1929G= (p.Gln643=) c.1422G= (p.Gln474=) | |
| 19 | g.4816314C>G | CA403488206 | TICAM1 | c.2064G>C (p.Gln688His) c.1566G>C (p.Gln522His) c.2022G>C (p.Gln674His) c.1929G>C (p.Gln643His) c.1422G>C (p.Gln474His) | |
| 19 | g.4816314C>T | CA9105001 | TICAM1 | c.2064G>A (p.Gln688=) c.1566G>A (p.Gln522=) c.2022G>A (p.Gln674=) c.1929G>A (p.Gln643=) c.1422G>A (p.Gln474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816315T>A | CA403488210 | TICAM1 | c.2063A>T (p.Gln688Leu) c.1565A>T (p.Gln522Leu) c.2021A>T (p.Gln674Leu) c.1928A>T (p.Gln643Leu) c.1421A>T (p.Gln474Leu) | |
| 19 | g.4816315T>C | CA403488212 | TICAM1 | c.2063A>G (p.Gln688Arg) c.1565A>G (p.Gln522Arg) c.2021A>G (p.Gln674Arg) c.1928A>G (p.Gln643Arg) c.1421A>G (p.Gln474Arg) | gnomAD v4 |
| 19 | g.4816315T>G | CA403488214 | TICAM1 | c.2063A>C (p.Gln688Pro) c.1565A>C (p.Gln522Pro) c.2021A>C (p.Gln674Pro) c.1928A>C (p.Gln643Pro) c.1421A>C (p.Gln474Pro) | |
| 19 | g.4816316G>A | CA403488219 | TICAM1 | c.2062C>T (p.Gln688Ter) c.1564C>T (p.Gln522Ter) c.2020C>T (p.Gln674Ter) c.1927C>T (p.Gln643Ter) c.1420C>T (p.Gln474Ter) | gnomAD v4 |
| 19 | g.4816316G>C | CA403488217 | TICAM1 | c.2062C>G (p.Gln688Glu) c.1564C>G (p.Gln522Glu) c.2020C>G (p.Gln674Glu) c.1927C>G (p.Gln643Glu) c.1420C>G (p.Gln474Glu) | |
| 19 | g.4816316G>T | CA403488216 | TICAM1 | c.2062C>A (p.Gln688Lys) c.1564C>A (p.Gln522Lys) c.2020C>A (p.Gln674Lys) c.1927C>A (p.Gln643Lys) c.1420C>A (p.Gln474Lys) | gnomAD v4 |
| 19 | g.4816317T>A | CA505173645 | TICAM1 | c.2061A>T (p.Val687=) c.1563A>T (p.Val521=) c.2019A>T (p.Val673=) c.1926A>T (p.Val642=) c.1419A>T (p.Val473=) | |
| 19 | g.4816317T>C | CA505173646 | TICAM1 | c.2061A>G (p.Val687=) c.1563A>G (p.Val521=) c.2019A>G (p.Val673=) c.1926A>G (p.Val642=) c.1419A>G (p.Val473=) | gnomAD v4 |
| 19 | g.4816317T>G | CA505173647 | TICAM1 | c.2061A>C (p.Val687=) c.1563A>C (p.Val521=) c.2019A>C (p.Val673=) c.1926A>C (p.Val642=) c.1419A>C (p.Val473=) | |
| 19 | g.4816318A>C | CA403488221 | TICAM1 | c.2060T>G (p.Val687Gly) c.1562T>G (p.Val521Gly) c.2018T>G (p.Val673Gly) c.1925T>G (p.Val642Gly) c.1418T>G (p.Val473Gly) | |
| 19 | g.4816318A>G | CA403488225 | TICAM1 | c.2060T>C (p.Val687Ala) c.1562T>C (p.Val521Ala) c.2018T>C (p.Val673Ala) c.1925T>C (p.Val642Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
| 19 | g.4816318A>T | CA403488222 | TICAM1 | c.2060T>A (p.Val687Glu) c.1562T>A (p.Val521Glu) c.2018T>A (p.Val673Glu) c.1925T>A (p.Val642Glu) c.1418T>A (p.Val473Glu) | gnomAD v4 |
| 19 | g.4816319C>A | CA403488227 | TICAM1 | c.2059G>T (p.Val687Leu) c.1561G>T (p.Val521Leu) c.2017G>T (p.Val673Leu) c.1924G>T (p.Val642Leu) c.1417G>T (p.Val473Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816319C= | CA2319604817 | TICAM1 | c.2059G= (p.Val687=) c.1561G= (p.Val521=) c.2017G= (p.Val673=) c.1924G= (p.Val642=) c.1417G= (p.Val473=) | |
| 19 | g.4816319C>G | CA403488228 | TICAM1 | c.2059G>C (p.Val687Leu) c.1561G>C (p.Val521Leu) c.2017G>C (p.Val673Leu) c.1924G>C (p.Val642Leu) c.1417G>C (p.Val473Leu) | |
| 19 | g.4816319C>T | CA403488230 | TICAM1 | c.2059G>A (p.Val687Ile) c.1561G>A (p.Val521Ile) c.2017G>A (p.Val673Ile) c.1924G>A (p.Val642Ile) c.1417G>A (p.Val473Ile) | gnomAD v4 |
| 19 | g.4816320del | CA2586031819 | TICAM1 | c.2059del (p.Val687TyrfsTer5) c.1561del (p.Val521TyrfsTer5) c.2017del (p.Val673TyrfsTer5) c.1924del (p.Val642TyrfsTer5) c.1417del (p.Val473TyrfsTer5) | gnomAD v4 |
| 19 | g.4816320C>A | CA403488232 | TICAM1 | c.2058G>T (p.Met686Ile) c.1560G>T (p.Met520Ile) c.2016G>T (p.Met672Ile) c.1923G>T (p.Met641Ile) c.1416G>T (p.Met472Ile) | gnomAD v4 |
| 19 | g.4816320C>G | CA403488234 | TICAM1 | c.2058G>C (p.Met686Ile) c.1560G>C (p.Met520Ile) c.2016G>C (p.Met672Ile) c.1923G>C (p.Met641Ile) c.1416G>C (p.Met472Ile) | |
| 19 | g.4816320C>T | CA403488236 | TICAM1 | c.2058G>A (p.Met686Ile) c.1560G>A (p.Met520Ile) c.2016G>A (p.Met672Ile) c.1923G>A (p.Met641Ile) c.1416G>A (p.Met472Ile) | |
| 19 | g.4816321A= | CA2319604818 | TICAM1 | c.2057T= (p.Met686=) c.1559T= (p.Met520=) c.2015T= (p.Met672=) c.1922T= (p.Met641=) c.1415T= (p.Met472=) | |
| 19 | g.4816321A>C | CA403488239 | TICAM1 | c.2057T>G (p.Met686Arg) c.1559T>G (p.Met520Arg) c.2015T>G (p.Met672Arg) c.1922T>G (p.Met641Arg) c.1415T>G (p.Met472Arg) | |
| 19 | g.4816321A>G | CA403488241 | TICAM1 | c.2057T>C (p.Met686Thr) c.1559T>C (p.Met520Thr) c.2015T>C (p.Met672Thr) c.1922T>C (p.Met641Thr) c.1415T>C (p.Met472Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816321A>T | CA403488242 | TICAM1 | c.2057T>A (p.Met686Lys) c.1559T>A (p.Met520Lys) c.2015T>A (p.Met672Lys) c.1922T>A (p.Met641Lys) c.1415T>A (p.Met472Lys) | |
| 19 | g.4816322T>A | CA403488244 | TICAM1 | c.2056A>T (p.Met686Leu) c.1558A>T (p.Met520Leu) c.2014A>T (p.Met672Leu) c.1921A>T (p.Met641Leu) c.1414A>T (p.Met472Leu) | |
| 19 | g.4816322T>C | CA403488246 | TICAM1 | c.2056A>G (p.Met686Val) c.1558A>G (p.Met520Val) c.2014A>G (p.Met672Val) c.1921A>G (p.Met641Val) c.1414A>G (p.Met472Val) | |
| 19 | g.4816322T>G | CA403488248 | TICAM1 | c.2056A>C (p.Met686Leu) c.1558A>C (p.Met520Leu) c.2014A>C (p.Met672Leu) c.1921A>C (p.Met641Leu) c.1414A>C (p.Met472Leu) | |
| 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 |