| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816707G>A | CA9105085 | TICAM1 | c.1671C>T (p.Asp557=) c.1254C>T (p.Asp418=) c.1629C>T (p.Asp543=) c.1536C>T (p.Asp512=) c.1029C>T (p.Asp343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816707G>C | CA403489083 | TICAM1 | c.1671C>G (p.Asp557Glu) c.1254C>G (p.Asp418Glu) c.1629C>G (p.Asp543Glu) c.1536C>G (p.Asp512Glu) c.1029C>G (p.Asp343Glu) | |
| 19 | g.4816707G= | CA2319604987 | TICAM1 | c.1671C= (p.Asp557=) c.1254C= (p.Asp418=) c.1629C= (p.Asp543=) c.1536C= (p.Asp512=) c.1029C= (p.Asp343=) | |
| 19 | g.4816707G>T | CA403489082 | TICAM1 | c.1671C>A (p.Asp557Glu) c.1254C>A (p.Asp418Glu) c.1629C>A (p.Asp543Glu) c.1536C>A (p.Asp512Glu) c.1029C>A (p.Asp343Glu) | gnomAD v4 |
| 19 | g.4816708T>A | CA403489084 | TICAM1 | c.1670A>T (p.Asp557Val) c.1253A>T (p.Asp418Val) c.1628A>T (p.Asp543Val) c.1535A>T (p.Asp512Val) c.1028A>T (p.Asp343Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816708T>C | CA403489086 | TICAM1 | c.1670A>G (p.Asp557Gly) c.1253A>G (p.Asp418Gly) c.1628A>G (p.Asp543Gly) c.1535A>G (p.Asp512Gly) c.1028A>G (p.Asp343Gly) | dbSNP |
| 19 | g.4816708T>G | CA403489085 | TICAM1 | c.1670A>C (p.Asp557Ala) c.1253A>C (p.Asp418Ala) c.1628A>C (p.Asp543Ala) c.1535A>C (p.Asp512Ala) c.1028A>C (p.Asp343Ala) | |
| 19 | g.4816708T= | CA2319604988 | TICAM1 | c.1670A= (p.Asp557=) c.1253A= (p.Asp418=) c.1628A= (p.Asp543=) c.1535A= (p.Asp512=) c.1028A= (p.Asp343=) | |
| 19 | g.4816709C>A | CA403489087 | TICAM1 | c.1669G>T (p.Asp557Tyr) c.1252G>T (p.Asp418Tyr) c.1627G>T (p.Asp543Tyr) c.1534G>T (p.Asp512Tyr) c.1027G>T (p.Asp343Tyr) | |
| 19 | g.4816709C= | CA2319604989 | TICAM1 | c.1669G= (p.Asp557=) c.1252G= (p.Asp418=) c.1627G= (p.Asp543=) c.1534G= (p.Asp512=) c.1027G= (p.Asp343=) | |
| 19 | g.4816709C>G | CA403489088 | TICAM1 | c.1669G>C (p.Asp557His) c.1252G>C (p.Asp418His) c.1627G>C (p.Asp543His) c.1534G>C (p.Asp512His) c.1027G>C (p.Asp343His) | ClinVar |
| 19 | g.4816709C>T | CA9105086 | TICAM1 | c.1669G>A (p.Asp557Asn) c.1252G>A (p.Asp418Asn) c.1627G>A (p.Asp543Asn) c.1534G>A (p.Asp512Asn) c.1027G>A (p.Asp343Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816710C>A | CA505174090 | TICAM1 | c.1668G>T (p.Leu556=) c.1251G>T (p.Leu417=) c.1626G>T (p.Leu542=) c.1533G>T (p.Leu511=) c.1026G>T (p.Leu342=) | |
| 19 | g.4816710C>G | CA505174091 | TICAM1 | c.1668G>C (p.Leu556=) c.1251G>C (p.Leu417=) c.1626G>C (p.Leu542=) c.1533G>C (p.Leu511=) c.1026G>C (p.Leu342=) | |
| 19 | g.4816710C>T | CA505174092 | TICAM1 | c.1668G>A (p.Leu556=) c.1251G>A (p.Leu417=) c.1626G>A (p.Leu542=) c.1533G>A (p.Leu511=) c.1026G>A (p.Leu342=) | |
| 19 | g.4816711A>C | CA403489089 | TICAM1 | c.1667T>G (p.Leu556Arg) c.1250T>G (p.Leu417Arg) c.1625T>G (p.Leu542Arg) c.1532T>G (p.Leu511Arg) c.1025T>G (p.Leu342Arg) | |
| 19 | g.4816711A>G | CA403489090 | TICAM1 | c.1667T>C (p.Leu556Pro) c.1250T>C (p.Leu417Pro) c.1625T>C (p.Leu542Pro) c.1532T>C (p.Leu511Pro) c.1025T>C (p.Leu342Pro) | |
| 19 | g.4816711A>T | CA403489091 | TICAM1 | c.1667T>A (p.Leu556Gln) c.1250T>A (p.Leu417Gln) c.1625T>A (p.Leu542Gln) c.1532T>A (p.Leu511Gln) c.1025T>A (p.Leu342Gln) | |
| 19 | g.4816712G>A | CA505174094 | TICAM1 | c.1666C>T (p.Leu556=) c.1249C>T (p.Leu417=) c.1624C>T (p.Leu542=) c.1531C>T (p.Leu511=) c.1024C>T (p.Leu342=) | gnomAD v4 |
| 19 | g.4816712G>C | CA403489092 | TICAM1 | c.1666C>G (p.Leu556Val) c.1249C>G (p.Leu417Val) c.1624C>G (p.Leu542Val) c.1531C>G (p.Leu511Val) c.1024C>G (p.Leu342Val) | |
| 19 | g.4816712G= | CA2319604990 | TICAM1 | c.1666C= (p.Leu556=) c.1249C= (p.Leu417=) c.1624C= (p.Leu542=) c.1531C= (p.Leu511=) c.1024C= (p.Leu342=) | |
| 19 | g.4816712G>T | CA9105087 | TICAM1 | c.1666C>A (p.Leu556Met) c.1249C>A (p.Leu417Met) c.1624C>A (p.Leu542Met) c.1531C>A (p.Leu511Met) c.1024C>A (p.Leu342Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816713G>A | CA505174095 | TICAM1 | c.1665C>T (p.His555=) c.1248C>T (p.His416=) c.1623C>T (p.His541=) c.1530C>T (p.His510=) c.1023C>T (p.His341=) | |
| 19 | g.4816713G>C | CA9105088 | TICAM1 | c.1665C>G (p.His555Gln) c.1248C>G (p.His416Gln) c.1623C>G (p.His541Gln) c.1530C>G (p.His510Gln) c.1023C>G (p.His341Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816713G= | CA2319604991 | TICAM1 | c.1665C= (p.His555=) c.1248C= (p.His416=) c.1623C= (p.His541=) c.1530C= (p.His510=) c.1023C= (p.His341=) | |
| 19 | g.4816713G>T | CA403489093 | TICAM1 | c.1665C>A (p.His555Gln) c.1248C>A (p.His416Gln) c.1623C>A (p.His541Gln) c.1530C>A (p.His510Gln) c.1023C>A (p.His341Gln) | |
| 19 | g.4816714T>A | CA403489096 | TICAM1 | c.1664A>T (p.His555Leu) c.1247A>T (p.His416Leu) c.1622A>T (p.His541Leu) c.1529A>T (p.His510Leu) c.1022A>T (p.His341Leu) | |
| 19 | g.4816714T>C | CA403489095 | TICAM1 | c.1664A>G (p.His555Arg) c.1247A>G (p.His416Arg) c.1622A>G (p.His541Arg) c.1529A>G (p.His510Arg) c.1022A>G (p.His341Arg) | |
| 19 | g.4816714T>G | CA403489094 | TICAM1 | c.1664A>C (p.His555Pro) c.1247A>C (p.His416Pro) c.1622A>C (p.His541Pro) c.1529A>C (p.His510Pro) c.1022A>C (p.His341Pro) | |
| 19 | g.4816715G>A | CA403489097 | TICAM1 | c.1663C>T (p.His555Tyr) c.1246C>T (p.His416Tyr) c.1621C>T (p.His541Tyr) c.1528C>T (p.His510Tyr) c.1021C>T (p.His341Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816715G>C | CA403489098 | TICAM1 | c.1663C>G (p.His555Asp) c.1246C>G (p.His416Asp) c.1621C>G (p.His541Asp) c.1528C>G (p.His510Asp) c.1021C>G (p.His341Asp) | |
| 19 | g.4816715G= | CA2319604992 | TICAM1 | c.1663C= (p.His555=) c.1246C= (p.His416=) c.1621C= (p.His541=) c.1528C= (p.His510=) c.1021C= (p.His341=) | |
| 19 | g.4816715G>T | CA403489099 | TICAM1 | c.1663C>A (p.His555Asn) c.1246C>A (p.His416Asn) c.1621C>A (p.His541Asn) c.1528C>A (p.His510Asn) c.1021C>A (p.His341Asn) | |
| 19 | g.4816716T>A | CA403489100 | TICAM1 | c.1662A>T (p.Gln554His) c.1245A>T (p.Gln415His) c.1620A>T (p.Gln540His) c.1527A>T (p.Gln509His) c.1020A>T (p.Gln340His) | |
| 19 | g.4816716T>C | CA9105089 | TICAM1 | c.1662A>G (p.Gln554=) c.1245A>G (p.Gln415=) c.1620A>G (p.Gln540=) c.1527A>G (p.Gln509=) c.1020A>G (p.Gln340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816716T>G | CA403489101 | TICAM1 | c.1662A>C (p.Gln554His) c.1245A>C (p.Gln415His) c.1620A>C (p.Gln540His) c.1527A>C (p.Gln509His) c.1020A>C (p.Gln340His) | |
| 19 | g.4816716T= | CA2319604993 | TICAM1 | c.1662A= (p.Gln554=) c.1245A= (p.Gln415=) c.1620A= (p.Gln540=) c.1527A= (p.Gln509=) c.1020A= (p.Gln340=) | |
| 19 | g.4816717T>A | CA403489102 | TICAM1 | c.1661A>T (p.Gln554Leu) c.1244A>T (p.Gln415Leu) c.1619A>T (p.Gln540Leu) c.1526A>T (p.Gln509Leu) c.1019A>T (p.Gln340Leu) | |
| 19 | g.4816717T>C | CA403489103 | TICAM1 | c.1661A>G (p.Gln554Arg) c.1244A>G (p.Gln415Arg) c.1619A>G (p.Gln540Arg) c.1526A>G (p.Gln509Arg) c.1019A>G (p.Gln340Arg) | |
| 19 | g.4816717T>G | CA403489104 | TICAM1 | c.1661A>C (p.Gln554Pro) c.1244A>C (p.Gln415Pro) c.1619A>C (p.Gln540Pro) c.1526A>C (p.Gln509Pro) c.1019A>C (p.Gln340Pro) | |
| 19 | g.4816718G>A | CA403489105 | TICAM1 | c.1660C>T (p.Gln554Ter) c.1243C>T (p.Gln415Ter) c.1618C>T (p.Gln540Ter) c.1525C>T (p.Gln509Ter) c.1018C>T (p.Gln340Ter) | dbSNP |
| 19 | g.4816718G>C | CA403489106 | TICAM1 | c.1660C>G (p.Gln554Glu) c.1243C>G (p.Gln415Glu) c.1618C>G (p.Gln540Glu) c.1525C>G (p.Gln509Glu) c.1018C>G (p.Gln340Glu) | |
| 19 | g.4816718G= | CA2319604994 | TICAM1 | c.1660C= (p.Gln554=) c.1243C= (p.Gln415=) c.1618C= (p.Gln540=) c.1525C= (p.Gln509=) c.1018C= (p.Gln340=) | |
| 19 | g.4816718G>T | CA403489107 | TICAM1 | c.1660C>A (p.Gln554Lys) c.1243C>A (p.Gln415Lys) c.1618C>A (p.Gln540Lys) c.1525C>A (p.Gln509Lys) c.1018C>A (p.Gln340Lys) | |
| 19 | g.4816719G>A | CA505174099 | TICAM1 | c.1659C>T (p.Ser553=) c.1242C>T (p.Ser414=) c.1617C>T (p.Ser539=) c.1524C>T (p.Ser508=) c.1017C>T (p.Ser339=) | |
| 19 | g.4816719G>C | CA403489109 | TICAM1 | c.1659C>G (p.Ser553Arg) c.1242C>G (p.Ser414Arg) c.1617C>G (p.Ser539Arg) c.1524C>G (p.Ser508Arg) c.1017C>G (p.Ser339Arg) | |
| 19 | g.4816719G>T | CA403489108 | TICAM1 | c.1659C>A (p.Ser553Arg) c.1242C>A (p.Ser414Arg) c.1617C>A (p.Ser539Arg) c.1524C>A (p.Ser508Arg) c.1017C>A (p.Ser339Arg) | |
| 19 | g.4816720C>A | CA403489110 | TICAM1 | c.1658G>T (p.Ser553Ile) c.1241G>T (p.Ser414Ile) c.1616G>T (p.Ser539Ile) c.1523G>T (p.Ser508Ile) c.1016G>T (p.Ser339Ile) | |
| 19 | g.4816720C>G | CA403489111 | TICAM1 | c.1658G>C (p.Ser553Thr) c.1241G>C (p.Ser414Thr) c.1616G>C (p.Ser539Thr) c.1523G>C (p.Ser508Thr) c.1016G>C (p.Ser339Thr) | gnomAD v4 |
| 19 | g.4816720C>T | CA403489112 | TICAM1 | c.1658G>A (p.Ser553Asn) c.1241G>A (p.Ser414Asn) c.1616G>A (p.Ser539Asn) c.1523G>A (p.Ser508Asn) c.1016G>A (p.Ser339Asn) | gnomAD v4 |