| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156876408G>A | CA1169425 | NTRK1 | c.1461G>A (p.Lys487=) c.*233G>A (n.*233G>A) c.1641G>A (p.Lys547=) c.1632G>A (p.Lys544=) c.1623G>A (p.Lys541=) c.1533G>A (p.Lys511=) n.2094G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876408G>C | CA342938390 | NTRK1 | c.1461G>C (p.Lys487Asn) c.*233G>C (n.*233G>C) c.1641G>C (p.Lys547Asn) c.1632G>C (p.Lys544Asn) c.1623G>C (p.Lys541Asn) c.1533G>C (p.Lys511Asn) n.2094G>C | dbSNP |
| 1 | g.156876408G= | CA1143639385 | NTRK1 | c.1461G= (p.Lys487=) c.*233G= (n.*233G=) c.1641G= (p.Lys547=) c.1632G= (p.Lys544=) c.1623G= (p.Lys541=) c.1533G= (p.Lys511=) n.2094G= | |
| 1 | g.156876408G>T | CA342938388 | NTRK1 | c.1461G>T (p.Lys487Asn) c.*233G>T (n.*233G>T) c.1641G>T (p.Lys547Asn) c.1632G>T (p.Lys544Asn) c.1623G>T (p.Lys541Asn) c.1533G>T (p.Lys511Asn) n.2094G>T | dbSNP |
| 1 | g.156876409G>A | CA342938392 | NTRK1 | c.1462G>A (p.Glu488Lys) c.*234G>A (n.*234G>A) c.1642G>A (p.Glu548Lys) c.1633G>A (p.Glu545Lys) c.1624G>A (p.Glu542Lys) c.1534G>A (p.Glu512Lys) n.2095G>A | dbSNP gnomAD v4 |
| 1 | g.156876409G>C | CA342938395 | NTRK1 | c.1462G>C (p.Glu488Gln) c.*234G>C (n.*234G>C) c.1642G>C (p.Glu548Gln) c.1633G>C (p.Glu545Gln) c.1624G>C (p.Glu542Gln) c.1534G>C (p.Glu512Gln) n.2095G>C | dbSNP |
| 1 | g.156876409G= | CA1200786081 | NTRK1 | c.1462G= (p.Glu488=) c.*234G= (n.*234G=) c.1642G= (p.Glu548=) c.1633G= (p.Glu545=) c.1624G= (p.Glu542=) c.1534G= (p.Glu512=) n.2095G= | |
| 1 | g.156876409G>T | CA342938393 | NTRK1 | c.1462G>T (p.Glu488Ter) c.*234G>T (n.*234G>T) c.1642G>T (p.Glu548Ter) c.1633G>T (p.Glu545Ter) c.1624G>T (p.Glu542Ter) c.1534G>T (p.Glu512Ter) n.2095G>T | |
| 1 | g.156876412_156876422del | CA526673649 | NTRK1 | c.1465_1475del (p.Ala489CysfsTer8) c.*237_*247del (n.*237_*247del) c.1645_1655del (p.Ala549CysfsTer8) c.1636_1646del (p.Ala546CysfsTer8) c.1627_1637del (p.Ala543CysfsTer8) c.1537_1547del (p.Ala513CysfsTer8) n.2098_2108del | gnomAD v2 gnomAD v4 |
| 1 | g.156876410A= | CA1200786082 | NTRK1 | c.1463A= (p.Glu488=) c.*235A= (n.*235A=) c.1643A= (p.Glu548=) c.1634A= (p.Glu545=) c.1625A= (p.Glu542=) c.1535A= (p.Glu512=) n.2096A= | |
| 1 | g.156876410A>C | CA342938397 | NTRK1 | c.1463A>C (p.Glu488Ala) c.*235A>C (n.*235A>C) c.1643A>C (p.Glu548Ala) c.1634A>C (p.Glu545Ala) c.1625A>C (p.Glu542Ala) c.1535A>C (p.Glu512Ala) n.2096A>C | |
| 1 | g.156876410A>G | CA342938399 | NTRK1 | c.1463A>G (p.Glu488Gly) c.*235A>G (n.*235A>G) c.1643A>G (p.Glu548Gly) c.1634A>G (p.Glu545Gly) c.1625A>G (p.Glu542Gly) c.1535A>G (p.Glu512Gly) n.2096A>G | dbSNP gnomAD v4 |
| 1 | g.156876410A>T | CA342938401 | NTRK1 | c.1463A>T (p.Glu488Val) c.*235A>T (n.*235A>T) c.1643A>T (p.Glu548Val) c.1634A>T (p.Glu545Val) c.1625A>T (p.Glu542Val) c.1535A>T (p.Glu512Val) n.2096A>T | dbSNP |
| 1 | g.156876411G>A | CA1169426 | NTRK1 | c.1464G>A (p.Glu488=) c.*236G>A (n.*236G>A) c.1644G>A (p.Glu548=) c.1635G>A (p.Glu545=) c.1626G>A (p.Glu542=) c.1536G>A (p.Glu512=) n.2097G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156876411G>C | CA342938404 | NTRK1 | c.1464G>C (p.Glu488Asp) c.*236G>C (n.*236G>C) c.1644G>C (p.Glu548Asp) c.1635G>C (p.Glu545Asp) c.1626G>C (p.Glu542Asp) c.1536G>C (p.Glu512Asp) n.2097G>C | dbSNP |
| 1 | g.156876411G= | CA1200786083 | NTRK1 | c.1464G= (p.Glu488=) c.*236G= (n.*236G=) c.1644G= (p.Glu548=) c.1635G= (p.Glu545=) c.1626G= (p.Glu542=) c.1536G= (p.Glu512=) n.2097G= | |
| 1 | g.156876411G>T | CA342938406 | NTRK1 | c.1464G>T (p.Glu488Asp) c.*236G>T (n.*236G>T) c.1644G>T (p.Glu548Asp) c.1635G>T (p.Glu545Asp) c.1626G>T (p.Glu542Asp) c.1536G>T (p.Glu512Asp) n.2097G>T | |
| 1 | g.156876412G>A | CA342938408 | NTRK1 | c.1465G>A (p.Ala489Thr) c.*237G>A (n.*237G>A) c.1645G>A (p.Ala549Thr) c.1636G>A (p.Ala546Thr) c.1627G>A (p.Ala543Thr) c.1537G>A (p.Ala513Thr) n.2098G>A | dbSNP |
| 1 | g.156876412G>C | CA342938410 | NTRK1 | c.1465G>C (p.Ala489Pro) c.*237G>C (n.*237G>C) c.1645G>C (p.Ala549Pro) c.1636G>C (p.Ala546Pro) c.1627G>C (p.Ala543Pro) c.1537G>C (p.Ala513Pro) n.2098G>C | dbSNP |
| 1 | g.156876412G>T | CA342938412 | NTRK1 | c.1465G>T (p.Ala489Ser) c.*237G>T (n.*237G>T) c.1645G>T (p.Ala549Ser) c.1636G>T (p.Ala546Ser) c.1627G>T (p.Ala543Ser) c.1537G>T (p.Ala513Ser) n.2098G>T | gnomAD v4 |
| 1 | g.156876413C>A | CA342938414 | NTRK1 | c.1466C>A (p.Ala489Glu) c.*238C>A (n.*238C>A) c.1646C>A (p.Ala549Glu) c.1637C>A (p.Ala546Glu) c.1628C>A (p.Ala543Glu) c.1538C>A (p.Ala513Glu) n.2099C>A | dbSNP gnomAD v4 |
| 1 | g.156876413C= | CA1200786084 | NTRK1 | c.1466C= (p.Ala489=) c.*238C= (n.*238C=) c.1646C= (p.Ala549=) c.1637C= (p.Ala546=) c.1628C= (p.Ala543=) c.1538C= (p.Ala513=) n.2099C= | |
| 1 | g.156876413C>G | CA342938416 | NTRK1 | c.1466C>G (p.Ala489Gly) c.*238C>G (n.*238C>G) c.1646C>G (p.Ala549Gly) c.1637C>G (p.Ala546Gly) c.1628C>G (p.Ala543Gly) c.1538C>G (p.Ala513Gly) n.2099C>G | dbSNP |
| 1 | g.156876413C>T | CA1169427 | NTRK1 | c.1466C>T (p.Ala489Val) c.*238C>T (n.*238C>T) c.1646C>T (p.Ala549Val) c.1637C>T (p.Ala546Val) c.1628C>T (p.Ala543Val) c.1538C>T (p.Ala513Val) n.2099C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876414G>A | CA1169428 | NTRK1 | c.1467G>A (p.Ala489=) c.*239G>A (n.*239G>A) c.1647G>A (p.Ala549=) c.1638G>A (p.Ala546=) c.1629G>A (p.Ala543=) c.1539G>A (p.Ala513=) n.2100G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876414G>C | CA421138499 | NTRK1 | c.1467G>C (p.Ala489=) c.*239G>C (n.*239G>C) c.1647G>C (p.Ala549=) c.1638G>C (p.Ala546=) c.1629G>C (p.Ala543=) c.1539G>C (p.Ala513=) n.2100G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.156876414G= | CA1200786085 | NTRK1 | c.1467G= (p.Ala489=) c.*239G= (n.*239G=) c.1647G= (p.Ala549=) c.1638G= (p.Ala546=) c.1629G= (p.Ala543=) c.1539G= (p.Ala513=) n.2100G= | |
| 1 | g.156876414G>T | CA421138501 | NTRK1 | c.1467G>T (p.Ala489=) c.*239G>T (n.*239G>T) c.1647G>T (p.Ala549=) c.1638G>T (p.Ala546=) c.1629G>T (p.Ala543=) c.1539G>T (p.Ala513=) n.2100G>T | |
| 1 | g.156876415T>A | CA342938418 | NTRK1 | c.1468T>A (p.Ser490Thr) c.*240T>A (n.*240T>A) c.1648T>A (p.Ser550Thr) c.1639T>A (p.Ser547Thr) c.1630T>A (p.Ser544Thr) c.1540T>A (p.Ser514Thr) n.2101T>A | |
| 1 | g.156876415T>C | CA342938420 | NTRK1 | c.1468T>C (p.Ser490Pro) c.*240T>C (n.*240T>C) c.1648T>C (p.Ser550Pro) c.1639T>C (p.Ser547Pro) c.1630T>C (p.Ser544Pro) c.1540T>C (p.Ser514Pro) n.2101T>C | dbSNP |
| 1 | g.156876415T>G | CA342938419 | NTRK1 | c.1468T>G (p.Ser490Ala) c.*240T>G (n.*240T>G) c.1648T>G (p.Ser550Ala) c.1639T>G (p.Ser547Ala) c.1630T>G (p.Ser544Ala) c.1540T>G (p.Ser514Ala) n.2101T>G | dbSNP |
| 1 | g.156876416C>A | CA342938421 | NTRK1 | c.1469C>A (p.Ser490Tyr) c.*241C>A (n.*241C>A) c.1649C>A (p.Ser550Tyr) c.1640C>A (p.Ser547Tyr) c.1631C>A (p.Ser544Tyr) c.1541C>A (p.Ser514Tyr) n.2102C>A | dbSNP COSMIC COSMIC |
| 1 | g.156876416C>G | CA342938422 | NTRK1 | c.1469C>G (p.Ser490Cys) c.*241C>G (n.*241C>G) c.1649C>G (p.Ser550Cys) c.1640C>G (p.Ser547Cys) c.1631C>G (p.Ser544Cys) c.1541C>G (p.Ser514Cys) n.2102C>G | dbSNP |
| 1 | g.156876416C>T | CA342938423 | NTRK1 | c.1469C>T (p.Ser490Phe) c.*241C>T (n.*241C>T) c.1649C>T (p.Ser550Phe) c.1640C>T (p.Ser547Phe) c.1631C>T (p.Ser544Phe) c.1541C>T (p.Ser514Phe) n.2102C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.156876416_156876417insGGCAGGAAGTCGGCACTGAA | CA2499214231 | NTRK1 | c.1469_1470insGGCAGGAAGTCGGCACTGAA (p.Glu491AlafsTer6) c.*241_*242insGGCAGGAAGTCGGCACTGAA (n.*241_*242insGGCAGGAAGTCGGCACTGAA) c.1649_1650insGGCAGGAAGTCGGCACTGAA (p.Glu551AlafsTer6) c.1640_1641insGGCAGGAAGTCGGCACTGAA (p.Glu548AlafsTer6) c.1631_1632insGGCAGGAAGTCGGCACTGAA (p.Glu545AlafsTer6) c.1541_1542insGGCAGGAAGTCGGCACTGAA (p.Glu515AlafsTer6) n.2102_2103insGGCAGGAAGTCGGCACTGAA | ClinVar dbSNP |
| 1 | g.156876417C>A | CA421138510 | NTRK1 | c.1470C>A (p.Ser490=) c.*242C>A (n.*242C>A) c.1650C>A (p.Ser550=) c.1641C>A (p.Ser547=) c.1632C>A (p.Ser544=) c.1542C>A (p.Ser514=) n.2103C>A | ClinVar dbSNP |
| 1 | g.156876417C= | CA1200786086 | NTRK1 | c.1470C= (p.Ser490=) c.*242C= (n.*242C=) c.1650C= (p.Ser550=) c.1641C= (p.Ser547=) c.1632C= (p.Ser544=) c.1542C= (p.Ser514=) n.2103C= | |
| 1 | g.156876417C>G | CA421138512 | NTRK1 | c.1470C>G (p.Ser490=) c.*242C>G (n.*242C>G) c.1650C>G (p.Ser550=) c.1641C>G (p.Ser547=) c.1632C>G (p.Ser544=) c.1542C>G (p.Ser514=) n.2103C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.156876417C>T | CA1169429 | NTRK1 | c.1470C>T (p.Ser490=) c.*242C>T (n.*242C>T) c.1650C>T (p.Ser550=) c.1641C>T (p.Ser547=) c.1632C>T (p.Ser544=) c.1542C>T (p.Ser514=) n.2103C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876417_156876418insATCCAGGCACTGAAG | CA2648464010 | NTRK1 | c.1470_1471insATCCAGGCACTGAAG (p.Ser490_Glu491insIleGlnAlaLeuLys) c.*242_*243insATCCAGGCACTGAAG (n.*242_*243insATCCAGGCACTGAAG) c.1650_1651insATCCAGGCACTGAAG (p.Ser550_Glu551insIleGlnAlaLeuLys) c.1641_1642insATCCAGGCACTGAAG (p.Ser547_Glu548insIleGlnAlaLeuLys) c.1632_1633insATCCAGGCACTGAAG (p.Ser544_Glu545insIleGlnAlaLeuLys) c.1542_1543insATCCAGGCACTGAAG (p.Ser514_Glu515insIleGlnAlaLeuLys) n.2103_2104insATCCAGGCACTGAAG | gnomAD v4 |
| 1 | g.156876418G>A | CA1169430 | NTRK1 | c.1471G>A (p.Glu491Lys) c.*243G>A (n.*243G>A) c.1651G>A (p.Glu551Lys) c.1642G>A (p.Glu548Lys) c.1633G>A (p.Glu545Lys) c.1543G>A (p.Glu515Lys) n.2104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876418G>C | CA1169431 | NTRK1 | c.1471G>C (p.Glu491Gln) c.*243G>C (n.*243G>C) c.1651G>C (p.Glu551Gln) c.1642G>C (p.Glu548Gln) c.1633G>C (p.Glu545Gln) c.1543G>C (p.Glu515Gln) n.2104G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876418G= | CA1200786087 | NTRK1 | c.1471G= (p.Glu491=) c.*243G= (n.*243G=) c.1651G= (p.Glu551=) c.1642G= (p.Glu548=) c.1633G= (p.Glu545=) c.1543G= (p.Glu515=) n.2104G= | |
| 1 | g.156876418G>T | CA342938424 | NTRK1 | c.1471G>T (p.Glu491Ter) c.*243G>T (n.*243G>T) c.1651G>T (p.Glu551Ter) c.1642G>T (p.Glu548Ter) c.1633G>T (p.Glu545Ter) c.1543G>T (p.Glu515Ter) n.2104G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876419del | CA2586964226 | NTRK1 | c.1472del (p.Glu491GlyfsTer?) c.*244del (n.*244del) c.1652del (p.Glu551GlyfsTer?) c.1643del (p.Glu548GlyfsTer?) c.1634del (p.Glu545GlyfsTer?) c.1544del (p.Glu515GlyfsTer?) n.2105del | |
| 1 | g.156876419A= | CA1200786088 | NTRK1 | c.1472A= (p.Glu491=) c.*244A= (n.*244A=) c.1652A= (p.Glu551=) c.1643A= (p.Glu548=) c.1634A= (p.Glu545=) c.1544A= (p.Glu515=) n.2105A= | |
| 1 | g.156876419A>C | CA342938425 | NTRK1 | c.1472A>C (p.Glu491Ala) c.*244A>C (n.*244A>C) c.1652A>C (p.Glu551Ala) c.1643A>C (p.Glu548Ala) c.1634A>C (p.Glu545Ala) c.1544A>C (p.Glu515Ala) n.2105A>C | |
| 1 | g.156876419A>G | CA342938426 | NTRK1 | c.1472A>G (p.Glu491Gly) c.*244A>G (n.*244A>G) c.1652A>G (p.Glu551Gly) c.1643A>G (p.Glu548Gly) c.1634A>G (p.Glu545Gly) c.1544A>G (p.Glu515Gly) n.2105A>G | dbSNP |
| 1 | g.156876419A>T | CA342938427 | NTRK1 | c.1472A>T (p.Glu491Val) c.*244A>T (n.*244A>T) c.1652A>T (p.Glu551Val) c.1643A>T (p.Glu548Val) c.1634A>T (p.Glu545Val) c.1544A>T (p.Glu515Val) n.2105A>T | dbSNP |
| 1 | g.156876420G>A | CA421138522 | NTRK1 | c.1473G>A (p.Glu491=) c.*245G>A (n.*245G>A) c.1653G>A (p.Glu551=) c.1644G>A (p.Glu548=) c.1635G>A (p.Glu545=) c.1545G>A (p.Glu515=) n.2106G>A | dbSNP COSMIC |