| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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 |