Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4932754C>A | CA497677322 | CHRNE,GP1BA | c.150C>A (p.Thr50=) c.-888+1588G>T (n.-888+1588G>T) | |
17 | g.4932754C>G | CA497677324 | CHRNE,GP1BA | c.150C>G (p.Thr50=) c.-888+1588G>C (n.-888+1588G>C) | |
17 | g.4932754C>T | CA497677325 | CHRNE,GP1BA | c.150C>T (p.Thr50=) c.-888+1588G>A (n.-888+1588G>A) | gnomAD v4 |
17 | g.4932755A>C | CA397314658 | CHRNE,GP1BA | c.151A>C (p.Ile51Leu) c.-888+1587T>G (n.-888+1587T>G) | |
17 | g.4932755A>G | CA397314659 | CHRNE,GP1BA | c.151A>G (p.Ile51Val) c.-888+1587T>C (n.-888+1587T>C) | |
17 | g.4932755A>T | CA397314661 | CHRNE,GP1BA | c.151A>T (p.Ile51Phe) c.-888+1587T>A (n.-888+1587T>A) | |
17 | g.4932756T>A | CA397314664 | CHRNE,GP1BA | c.152T>A (p.Ile51Asn) c.-888+1586A>T (n.-888+1586A>T) | |
17 | g.4932756T>C | CA397314667 | CHRNE,GP1BA | c.152T>C (p.Ile51Thr) c.-888+1586A>G (n.-888+1586A>G) | |
17 | g.4932756T>G | CA397314668 | CHRNE,GP1BA | c.152T>G (p.Ile51Ser) c.-888+1586A>C (n.-888+1586A>C) | |
17 | g.4932757C>A | CA497677329 | CHRNE,GP1BA | c.153C>A (p.Ile51=) c.-888+1585G>T (n.-888+1585G>T) | |
17 | g.4932757C>G | CA397314671 | CHRNE,GP1BA | c.153C>G (p.Ile51Met) c.-888+1585G>C (n.-888+1585G>C) | |
17 | g.4932757C>T | CA497677331 | CHRNE,GP1BA | c.153C>T (p.Ile51=) c.-888+1585G>A (n.-888+1585G>A) | COSMIC |
17 | g.4932758dup | CA2695224137 | CHRNE,GP1BA | c.154dup (p.Leu52ProfsTer5) c.-888+1585dup (n.-888+1585dup) | |
17 | g.4932758C>A | CA397314686 | CHRNE,GP1BA | c.154C>A (p.Leu52Ile) c.-888+1584G>T (n.-888+1584G>T) | |
17 | g.4932758C>G | CA397314690 | CHRNE,GP1BA | c.154C>G (p.Leu52Val) c.-888+1584G>C (n.-888+1584G>C) | gnomAD v4 |
17 | g.4932758C>T | CA397314692 | CHRNE,GP1BA | c.154C>T (p.Leu52Phe) c.-888+1584G>A (n.-888+1584G>A) | |
17 | g.4932759T>A | CA397314697 | CHRNE,GP1BA | c.155T>A (p.Leu52His) c.-888+1583A>T (n.-888+1583A>T) | |
17 | g.4932759T>C | CA397314702 | CHRNE,GP1BA | c.155T>C (p.Leu52Pro) c.-888+1583A>G (n.-888+1583A>G) | |
17 | g.4932759T>G | CA397314700 | CHRNE,GP1BA | c.155T>G (p.Leu52Arg) c.-888+1583A>C (n.-888+1583A>C) | |
17 | g.4932760C>A | CA497677337 | CHRNE,GP1BA | c.156C>A (p.Leu52=) c.-888+1582G>T (n.-888+1582G>T) | |
17 | g.4932760C= | CA2244625283 | CHRNE,GP1BA | c.156C= (p.Leu52=) c.-888+1582G= (n.-888+1582G=) | |
17 | g.4932760C>G | CA497677335 | CHRNE,GP1BA | c.156C>G (p.Leu52=) c.-888+1582G>C (n.-888+1582G>C) | dbSNP gnomAD v4 |
17 | g.4932760C>T | CA497677336 | CHRNE,GP1BA | c.156C>T (p.Leu52=) c.-888+1582G>A (n.-888+1582G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932761C>A | CA397314705 | CHRNE,GP1BA | c.157C>A (p.His53Asn) c.-888+1581G>T (n.-888+1581G>T) | COSMIC |
17 | g.4932761C>G | CA397314708 | CHRNE,GP1BA | c.157C>G (p.His53Asp) c.-888+1581G>C (n.-888+1581G>C) | |
17 | g.4932761C>T | CA397314711 | CHRNE,GP1BA | c.157C>T (p.His53Tyr) c.-888+1581G>A (n.-888+1581G>A) | |
17 | g.4932762A>C | CA397314716 | CHRNE,GP1BA | c.158A>C (p.His53Pro) c.-888+1580T>G (n.-888+1580T>G) | |
17 | g.4932762A>G | CA397314718 | CHRNE,GP1BA | c.158A>G (p.His53Arg) c.-888+1580T>C (n.-888+1580T>C) | |
17 | g.4932762A>T | CA397314722 | CHRNE,GP1BA | c.158A>T (p.His53Leu) c.-888+1580T>A (n.-888+1580T>A) | |
17 | g.4932763C>A | CA397314725 | CHRNE,GP1BA | c.159C>A (p.His53Gln) c.-888+1579G>T (n.-888+1579G>T) | |
17 | g.4932763C= | CA2244625284 | CHRNE,GP1BA | c.159C= (p.His53=) c.-888+1579G= (n.-888+1579G=) | |
17 | g.4932763C>G | CA397314726 | CHRNE,GP1BA | c.159C>G (p.His53Gln) c.-888+1579G>C (n.-888+1579G>C) | |
17 | g.4932763C>T | CA497677341 | CHRNE,GP1BA | c.159C>T (p.His53=) c.-888+1579G>A (n.-888+1579G>A) | dbSNP gnomAD v4 |
17 | g.4932764C>A | CA397314727 | CHRNE,GP1BA | c.160C>A (p.Leu54Met) c.-888+1578G>T (n.-888+1578G>T) | |
17 | g.4932764C= | CA2244625285 | CHRNE,GP1BA | c.160C= (p.Leu54=) c.-888+1578G= (n.-888+1578G=) | |
17 | g.4932764C>G | CA397314728 | CHRNE,GP1BA | c.160C>G (p.Leu54Val) c.-888+1578G>C (n.-888+1578G>C) | |
17 | g.4932764C>T | CA287215717 | CHRNE,GP1BA | c.160C>T (p.Leu54=) c.-888+1578G>A (n.-888+1578G>A) | dbSNP |
17 | g.4932765T>A | CA397314735 | CHRNE,GP1BA | c.161T>A (p.Leu54Gln) c.-888+1577A>T (n.-888+1577A>T) | |
17 | g.4932765T>C | CA8314706 | CHRNE,GP1BA | c.161T>C (p.Leu54Pro) c.-888+1577A>G (n.-888+1577A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932765T>G | CA397314731 | CHRNE,GP1BA | c.161T>G (p.Leu54Arg) c.-888+1577A>C (n.-888+1577A>C) | |
17 | g.4932765T= | CA2244625286 | CHRNE,GP1BA | c.161T= (p.Leu54=) c.-888+1577A= (n.-888+1577A=) | |
17 | g.4932769_4932772del | CA658820730 | CHRNE,GP1BA | c.165_168del (p.Ser55ArgfsTer12) c.-888+1574_-888+1577del (n.-888+1574_-888+1577del) | ClinVar dbSNP |
17 | g.4932766G>A | CA497677345 | CHRNE,GP1BA | c.162G>A (p.Leu54=) c.-888+1576C>T (n.-888+1576C>T) | |
17 | g.4932766G>C | CA497677348 | CHRNE,GP1BA | c.162G>C (p.Leu54=) c.-888+1576C>G (n.-888+1576C>G) | gnomAD v4 |
17 | g.4932766G>T | CA497677346 | CHRNE,GP1BA | c.162G>T (p.Leu54=) c.-888+1576C>A (n.-888+1576C>A) | |
17 | g.4932768_4932773del | CA2580611764 | CHRNE,GP1BA | c.164_169del (p.Ser55_Glu56del) c.-888+1571_-888+1576del (n.-888+1571_-888+1576del) | |
17 | g.4932767A= | CA2244625287 | CHRNE,GP1BA | c.163A= (p.Ser55=) c.-888+1575T= (n.-888+1575T=) | |
17 | g.4932767A>C | CA397314742 | CHRNE,GP1BA | c.163A>C (p.Ser55Arg) c.-888+1575T>G (n.-888+1575T>G) | |
17 | g.4932767A>G | CA397314737 | CHRNE,GP1BA | c.163A>G (p.Ser55Gly) c.-888+1575T>C (n.-888+1575T>C) | dbSNP gnomAD v2 |
17 | g.4932767A>T | CA397314740 | CHRNE,GP1BA | c.163A>T (p.Ser55Cys) c.-888+1575T>A (n.-888+1575T>A) | |
17 | g.4932768G>A | CA397314755 | CHRNE,GP1BA | c.164G>A (p.Ser55Asn) c.-888+1574C>T (n.-888+1574C>T) | dbSNP gnomAD v4 |
17 | g.4932768G>C | CA397314756 | CHRNE,GP1BA | c.164G>C (p.Ser55Thr) c.-888+1574C>G (n.-888+1574C>G) | gnomAD v4 |
17 | g.4932768G= | CA2244625288 | CHRNE,GP1BA | c.164G= (p.Ser55=) c.-888+1574C= (n.-888+1574C=) | |
17 | g.4932768G>T | CA397314758 | CHRNE,GP1BA | c.164G>T (p.Ser55Ile) c.-888+1574C>A (n.-888+1574C>A) | |
17 | g.4932769T>A | CA397314764 | CHRNE,GP1BA | c.165T>A (p.Ser55Arg) c.-888+1573A>T (n.-888+1573A>T) | gnomAD v4 |
17 | g.4932769T>C | CA497677351 | CHRNE,GP1BA | c.165T>C (p.Ser55=) c.-888+1573A>G (n.-888+1573A>G) | gnomAD v4 |
17 | g.4932769T>G | CA397314767 | CHRNE,GP1BA | c.165T>G (p.Ser55Arg) c.-888+1573A>C (n.-888+1573A>C) | gnomAD v4 COSMIC |
17 | g.4932770G>A | CA397314770 | CHRNE,GP1BA | c.166G>A (p.Glu56Lys) c.-888+1572C>T (n.-888+1572C>T) | dbSNP gnomAD v4 |
17 | g.4932770G>C | CA397314772 | CHRNE,GP1BA | c.166G>C (p.Glu56Gln) c.-888+1572C>G (n.-888+1572C>G) | |
17 | g.4932770G= | CA2244625289 | CHRNE,GP1BA | c.166G= (p.Glu56=) c.-888+1572C= (n.-888+1572C=) | |
17 | g.4932770G>T | CA397314776 | CHRNE,GP1BA | c.166G>T (p.Glu56Ter) c.-888+1572C>A (n.-888+1572C>A) | |
17 | g.4932771A>C | CA397314780 | CHRNE,GP1BA | c.167A>C (p.Glu56Ala) c.-888+1571T>G (n.-888+1571T>G) | |
17 | g.4932771A>G | CA397314783 | CHRNE,GP1BA | c.167A>G (p.Glu56Gly) c.-888+1571T>C (n.-888+1571T>C) | |
17 | g.4932771A>T | CA397314806 | CHRNE,GP1BA | c.167A>T (p.Glu56Val) c.-888+1571T>A (n.-888+1571T>A) | |
17 | g.4932772G>A | CA497677353 | CHRNE,GP1BA | c.168G>A (p.Glu56=) c.-888+1570C>T (n.-888+1570C>T) | dbSNP |
17 | g.4932772G>C | CA397314812 | CHRNE,GP1BA | c.168G>C (p.Glu56Asp) c.-888+1570C>G (n.-888+1570C>G) | |
17 | g.4932772G= | CA2244625290 | CHRNE,GP1BA | c.168G= (p.Glu56=) c.-888+1570C= (n.-888+1570C=) | |
17 | g.4932772G>T | CA397314809 | CHRNE,GP1BA | c.168G>T (p.Glu56Asp) c.-888+1570C>A (n.-888+1570C>A) | |
17 | g.4932773A>C | CA397314821 | CHRNE,GP1BA | c.169A>C (p.Asn57His) c.-888+1569T>G (n.-888+1569T>G) | |
17 | g.4932773A>G | CA397314824 | CHRNE,GP1BA | c.169A>G (p.Asn57Asp) c.-888+1569T>C (n.-888+1569T>C) | ClinVar dbSNP |
17 | g.4932773A>T | CA397314833 | CHRNE,GP1BA | c.169A>T (p.Asn57Tyr) c.-888+1569T>A (n.-888+1569T>A) | |
17 | g.4932774A>C | CA397314836 | CHRNE,GP1BA | c.170A>C (p.Asn57Thr) c.-888+1568T>G (n.-888+1568T>G) | |
17 | g.4932774A>G | CA397314840 | CHRNE,GP1BA | c.170A>G (p.Asn57Ser) c.-888+1568T>C (n.-888+1568T>C) | |
17 | g.4932774A>T | CA397314843 | CHRNE,GP1BA | c.170A>T (p.Asn57Ile) c.-888+1568T>A (n.-888+1568T>A) | |
17 | g.4932775C>A | CA397314846 | CHRNE,GP1BA | c.171C>A (p.Asn57Lys) c.-888+1567G>T (n.-888+1567G>T) | ClinVar dbSNP |
17 | g.4932775C= | CA2244625291 | CHRNE,GP1BA | c.171C= (p.Asn57=) c.-888+1567G= (n.-888+1567G=) | |
17 | g.4932775C>G | CA397314850 | CHRNE,GP1BA | c.171C>G (p.Asn57Lys) c.-888+1567G>C (n.-888+1567G>C) | |
17 | g.4932775C>T | CA497677355 | CHRNE,GP1BA | c.171C>T (p.Asn57=) c.-888+1567G>A (n.-888+1567G>A) | |
17 | g.4932776C>A | CA397314851 | CHRNE,GP1BA | c.172C>A (p.Leu58Ile) c.-888+1566G>T (n.-888+1566G>T) | gnomAD v4 |
17 | g.4932776C= | CA2244625292 | CHRNE,GP1BA | c.172C= (p.Leu58=) c.-888+1566G= (n.-888+1566G=) | |
17 | g.4932776C>G | CA397314852 | CHRNE,GP1BA | c.172C>G (p.Leu58Val) c.-888+1566G>C (n.-888+1566G>C) | |
17 | g.4932776C>T | CA8314707 | CHRNE,GP1BA | c.172C>T (p.Leu58Phe) c.-888+1566G>A (n.-888+1566G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932777T>A | CA397314858 | CHRNE,GP1BA | c.173T>A (p.Leu58His) c.-888+1565A>T (n.-888+1565A>T) | |
17 | g.4932777T>C | CA397314859 | CHRNE,GP1BA | c.173T>C (p.Leu58Pro) c.-888+1565A>G (n.-888+1565A>G) | |
17 | g.4932777T>G | CA397314861 | CHRNE,GP1BA | c.173T>G (p.Leu58Arg) c.-888+1565A>C (n.-888+1565A>C) | |
17 | g.4932778C>A | CA497677359 | CHRNE,GP1BA | c.174C>A (p.Leu58=) c.-888+1564G>T (n.-888+1564G>T) | |
17 | g.4932778C= | CA2244625293 | CHRNE,GP1BA | c.174C= (p.Leu58=) c.-888+1564G= (n.-888+1564G=) | |
17 | g.4932778C>G | CA497677360 | CHRNE,GP1BA | c.174C>G (p.Leu58=) c.-888+1564G>C (n.-888+1564G>C) | |
17 | g.4932778C>T | CA8314708 | CHRNE,GP1BA | c.174C>T (p.Leu58=) c.-888+1564G>A (n.-888+1564G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932779C>A | CA397314867 | CHRNE,GP1BA | c.175C>A (p.Leu59Met) c.-888+1563G>T (n.-888+1563G>T) | |
17 | g.4932779C>G | CA397314866 | CHRNE,GP1BA | c.175C>G (p.Leu59Val) c.-888+1563G>C (n.-888+1563G>C) | |
17 | g.4932779C>T | CA497677362 | CHRNE,GP1BA | c.175C>T (p.Leu59=) c.-888+1563G>A (n.-888+1563G>A) | |
17 | g.4932780T>A | CA397314871 | CHRNE,GP1BA | c.176T>A (p.Leu59Gln) c.-888+1562A>T (n.-888+1562A>T) | |
17 | g.4932780T>C | CA397314877 | CHRNE,GP1BA | c.176T>C (p.Leu59Pro) c.-888+1562A>G (n.-888+1562A>G) | ClinVar gnomAD v4 |
17 | g.4932780T>G | CA397314880 | CHRNE,GP1BA | c.176T>G (p.Leu59Arg) c.-888+1562A>C (n.-888+1562A>C) | |
17 | g.4932781G>A | CA497677363 | CHRNE,GP1BA | c.177G>A (p.Leu59=) c.-888+1561C>T (n.-888+1561C>T) | |
17 | g.4932781G>C | CA497677364 | CHRNE,GP1BA | c.177G>C (p.Leu59=) c.-888+1561C>G (n.-888+1561C>G) | |
17 | g.4932781G>T | CA497677365 | CHRNE,GP1BA | c.177G>T (p.Leu59=) c.-888+1561C>A (n.-888+1561C>A) | |
17 | g.4932782T>A | CA397314883 | CHRNE,GP1BA | c.178T>A (p.Tyr60Asn) c.-888+1560A>T (n.-888+1560A>T) | |
17 | g.4932782T>C | CA397314886 | CHRNE,GP1BA | c.178T>C (p.Tyr60His) c.-888+1560A>G (n.-888+1560A>G) | gnomAD v4 |
17 | g.4932782T>G | CA397314888 | CHRNE,GP1BA | c.178T>G (p.Tyr60Asp) c.-888+1560A>C (n.-888+1560A>C) | |
17 | g.4932783A>C | CA397314902 | CHRNE,GP1BA | c.179A>C (p.Tyr60Ser) c.-888+1559T>G (n.-888+1559T>G) | |
17 | g.4932783A>G | CA397314892 | CHRNE,GP1BA | c.179A>G (p.Tyr60Cys) c.-888+1559T>C (n.-888+1559T>C) | |
17 | g.4932783A>T | CA397314894 | CHRNE,GP1BA | c.179A>T (p.Tyr60Phe) c.-888+1559T>A (n.-888+1559T>A) | |
17 | g.4932784C>A | CA397314904 | CHRNE,GP1BA | c.180C>A (p.Tyr60Ter) c.-888+1558G>T (n.-888+1558G>T) | |
17 | g.4932784C>G | CA397314907 | CHRNE,GP1BA | c.180C>G (p.Tyr60Ter) c.-888+1558G>C (n.-888+1558G>C) | |
17 | g.4932784C>T | CA497677367 | CHRNE,GP1BA | c.180C>T (p.Tyr60=) c.-888+1558G>A (n.-888+1558G>A) | gnomAD v4 |
17 | g.4932785A= | CA2244625294 | CHRNE,GP1BA | c.181A= (p.Thr61=) c.-888+1557T= (n.-888+1557T=) | |
17 | g.4932785A>C | CA397314910 | CHRNE,GP1BA | c.181A>C (p.Thr61Pro) c.-888+1557T>G (n.-888+1557T>G) | |
17 | g.4932785A>G | CA397314914 | CHRNE,GP1BA | c.181A>G (p.Thr61Ala) c.-888+1557T>C (n.-888+1557T>C) | |
17 | g.4932785A>T | CA8314709 | CHRNE,GP1BA | c.181A>T (p.Thr61Ser) c.-888+1557T>A (n.-888+1557T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932786C>A | CA397314918 | CHRNE,GP1BA | c.182C>A (p.Thr61Asn) c.-888+1556G>T (n.-888+1556G>T) | |
17 | g.4932786C= | CA2244625295 | CHRNE,GP1BA | c.182C= (p.Thr61=) c.-888+1556G= (n.-888+1556G=) | |
17 | g.4932786C>G | CA397314925 | CHRNE,GP1BA | c.182C>G (p.Thr61Ser) c.-888+1556G>C (n.-888+1556G>C) | |
17 | g.4932786C>T | CA8314710 | CHRNE,GP1BA | c.182C>T (p.Thr61Ile) c.-888+1556G>A (n.-888+1556G>A) | dbSNP ExAC gnomAD v4 |
17 | g.4932787C>A | CA497677371 | CHRNE,GP1BA | c.183C>A (p.Thr61=) c.-888+1555G>T (n.-888+1555G>T) | |
17 | g.4932787C>G | CA497677373 | CHRNE,GP1BA | c.183C>G (p.Thr61=) c.-888+1555G>C (n.-888+1555G>C) | |
17 | g.4932787C>T | CA497677372 | CHRNE,GP1BA | c.183C>T (p.Thr61=) c.-888+1555G>A (n.-888+1555G>A) | gnomAD v4 |
17 | g.4932788T>A | CA397314929 | CHRNE,GP1BA | c.184T>A (p.Phe62Ile) c.-888+1554A>T (n.-888+1554A>T) | |
17 | g.4932788T>C | CA397314933 | CHRNE,GP1BA | c.184T>C (p.Phe62Leu) c.-888+1554A>G (n.-888+1554A>G) | dbSNP |
17 | g.4932788T>G | CA397314939 | CHRNE,GP1BA | c.184T>G (p.Phe62Val) c.-888+1554A>C (n.-888+1554A>C) | gnomAD v4 |
17 | g.4932788T= | CA2244625296 | CHRNE,GP1BA | c.184T= (p.Phe62=) c.-888+1554A= (n.-888+1554A=) | |
17 | g.4932788_4932789dup | CA2635578598 | CHRNE,GP1BA | c.184_185dup (p.Leu64ProfsTer5) c.-888+1553_-888+1554dup (n.-888+1553_-888+1554dup) | gnomAD v4 |
17 | g.4932789T>A | CA397314943 | CHRNE,GP1BA | c.185T>A (p.Phe62Tyr) c.-888+1553A>T (n.-888+1553A>T) | |
17 | g.4932789T>C | CA397314945 | CHRNE,GP1BA | c.185T>C (p.Phe62Ser) c.-888+1553A>G (n.-888+1553A>G) | |
17 | g.4932789T>G | CA397314948 | CHRNE,GP1BA | c.185T>G (p.Phe62Cys) c.-888+1553A>C (n.-888+1553A>C) | |
17 | g.4932790C>A | CA397314951 | CHRNE,GP1BA | c.186C>A (p.Phe62Leu) c.-888+1552G>T (n.-888+1552G>T) | |
17 | g.4932790C>G | CA397314954 | CHRNE,GP1BA | c.186C>G (p.Phe62Leu) c.-888+1552G>C (n.-888+1552G>C) | |
17 | g.4932790C>T | CA497677375 | CHRNE,GP1BA | c.186C>T (p.Phe62=) c.-888+1552G>A (n.-888+1552G>A) | |
17 | g.4932791T>A | CA397314957 | CHRNE,GP1BA | c.187T>A (p.Ser63Thr) c.-888+1551A>T (n.-888+1551A>T) | |
17 | g.4932791T>C | CA397314961 | CHRNE,GP1BA | c.187T>C (p.Ser63Pro) c.-888+1551A>G (n.-888+1551A>G) | |
17 | g.4932791T>G | CA397314966 | CHRNE,GP1BA | c.187T>G (p.Ser63Ala) c.-888+1551A>C (n.-888+1551A>C) | |
17 | g.4932791_4932792delinsTC | CA2244625297 | CHRNE,GP1BA | c.187_188delinsTC (p.Ser63=) c.-888+1550_-888+1551delinsGA (n.-888+1550_-888+1551delinsGA) | |
17 | g.4932792C>A | CA397314969 | CHRNE,GP1BA | c.188C>A (p.Ser63Tyr) c.-888+1550G>T (n.-888+1550G>T) | |
17 | g.4932792C= | CA2244625299 | CHRNE,GP1BA | c.188C= (p.Ser63=) c.-888+1550G= (n.-888+1550G=) | |
17 | g.4932792C>G | CA397314973 | CHRNE,GP1BA | c.188C>G (p.Ser63Cys) c.-888+1550G>C (n.-888+1550G>C) | |
17 | g.4932792C>T | CA8314711 | CHRNE,GP1BA | c.188C>T (p.Ser63Phe) c.-888+1550G>A (n.-888+1550G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932794del | CA2244625298 | CHRNE,GP1BA | c.190del (p.Leu64TrpfsTer4) c.-888+1550del (n.-888+1550del) | dbSNP |
17 | g.4932793C>A | CA497677378 | CHRNE,GP1BA | c.189C>A (p.Ser63=) c.-888+1549G>T (n.-888+1549G>T) | |
17 | g.4932793C= | CA2244625300 | CHRNE,GP1BA | c.189C= (p.Ser63=) c.-888+1549G= (n.-888+1549G=) | |
17 | g.4932793C>G | CA497677379 | CHRNE,GP1BA | c.189C>G (p.Ser63=) c.-888+1549G>C (n.-888+1549G>C) | |
17 | g.4932793C>T | CA8314712 | CHRNE,GP1BA | c.189C>T (p.Ser63=) c.-888+1549G>A (n.-888+1549G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932794C>A | CA397314991 | CHRNE,GP1BA | c.190C>A (p.Leu64Met) c.-888+1548G>T (n.-888+1548G>T) | |
17 | g.4932794C>G | CA397314996 | CHRNE,GP1BA | c.190C>G (p.Leu64Val) c.-888+1548G>C (n.-888+1548G>C) | |
17 | g.4932794C>T | CA497677381 | CHRNE,GP1BA | c.190C>T (p.Leu64=) c.-888+1548G>A (n.-888+1548G>A) | |
17 | g.4932795T>A | CA397315004 | CHRNE,GP1BA | c.191T>A (p.Leu64Gln) c.-888+1547A>T (n.-888+1547A>T) | |
17 | g.4932795T>C | CA397315007 | CHRNE,GP1BA | c.191T>C (p.Leu64Pro) c.-888+1547A>G (n.-888+1547A>G) | ClinVar dbSNP |
17 | g.4932795T>G | CA397315010 | CHRNE,GP1BA | c.191T>G (p.Leu64Arg) c.-888+1547A>C (n.-888+1547A>C) | |
17 | g.4932796G>A | CA8314713 | CHRNE,GP1BA | c.192G>A (p.Leu64=) c.-888+1546C>T (n.-888+1546C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932796G>C | CA497677382 | CHRNE,GP1BA | c.192G>C (p.Leu64=) c.-888+1546C>G (n.-888+1546C>G) | |
17 | g.4932796G= | CA2244625301 | CHRNE,GP1BA | c.192G= (p.Leu64=) c.-888+1546C= (n.-888+1546C=) | |
17 | g.4932796G>T | CA497677383 | CHRNE,GP1BA | c.192G>T (p.Leu64=) c.-888+1546C>A (n.-888+1546C>A) | |
17 | g.4932797G>A | CA397315016 | CHRNE,GP1BA | c.193G>A (p.Ala65Thr) c.-888+1545C>T (n.-888+1545C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932797G>C | CA397315018 | CHRNE,GP1BA | c.193G>C (p.Ala65Pro) c.-888+1545C>G (n.-888+1545C>G) | |
17 | g.4932797G= | CA2244625302 | CHRNE,GP1BA | c.193G= (p.Ala65=) c.-888+1545C= (n.-888+1545C=) | |
17 | g.4932797G>T | CA397315020 | CHRNE,GP1BA | c.193G>T (p.Ala65Ser) c.-888+1545C>A (n.-888+1545C>A) | |
17 | g.4932798C>A | CA397315031 | CHRNE,GP1BA | c.194C>A (p.Ala65Glu) c.-888+1544G>T (n.-888+1544G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932798C= | CA2244625303 | CHRNE,GP1BA | c.194C= (p.Ala65=) c.-888+1544G= (n.-888+1544G=) | |
17 | g.4932798C>G | CA397315033 | CHRNE,GP1BA | c.194C>G (p.Ala65Gly) c.-888+1544G>C (n.-888+1544G>C) | |
17 | g.4932798C>T | CA397315035 | CHRNE,GP1BA | c.194C>T (p.Ala65Val) c.-888+1544G>A (n.-888+1544G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932799A>C | CA497677387 | CHRNE,GP1BA | c.195A>C (p.Ala65=) c.-888+1543T>G (n.-888+1543T>G) | |
17 | g.4932799A>G | CA497677388 | CHRNE,GP1BA | c.195A>G (p.Ala65=) c.-888+1543T>C (n.-888+1543T>C) | |
17 | g.4932799A>T | CA497677389 | CHRNE,GP1BA | c.195A>T (p.Ala65=) c.-888+1543T>A (n.-888+1543T>A) | |
17 | g.4932800A>C | CA397315048 | CHRNE,GP1BA | c.196A>C (p.Thr66Pro) c.-888+1542T>G (n.-888+1542T>G) | |
17 | g.4932800A>G | CA397315040 | CHRNE,GP1BA | c.196A>G (p.Thr66Ala) c.-888+1542T>C (n.-888+1542T>C) | |
17 | g.4932800A>T | CA397315037 | CHRNE,GP1BA | c.196A>T (p.Thr66Ser) c.-888+1542T>A (n.-888+1542T>A) | |
17 | g.4932800_4932801delinsAC | CA2244625304 | CHRNE,GP1BA | c.196_197delinsAC (p.Thr66=) c.-888+1541_-888+1542delinsGT (n.-888+1541_-888+1542delinsGT) | |
17 | g.4932801C>A | CA397315051 | CHRNE,GP1BA | c.197C>A (p.Thr66Asn) c.-888+1541G>T (n.-888+1541G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932801C= | CA2244625305 | CHRNE,GP1BA | c.197C= (p.Thr66=) c.-888+1541G= (n.-888+1541G=) | |
17 | g.4932801C>G | CA397315054 | CHRNE,GP1BA | c.197C>G (p.Thr66Ser) c.-888+1541G>C (n.-888+1541G>C) | |
17 | g.4932801C>T | CA8314715 | CHRNE,GP1BA | c.197C>T (p.Thr66Ile) c.-888+1541G>A (n.-888+1541G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932803del | CA8314714 | CHRNE,GP1BA | c.199del (p.Leu67Ter) c.-888+1541del (n.-888+1541del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932802C>A | CA8314717 | CHRNE,GP1BA | c.198C>A (p.Thr66=) c.-888+1540G>T (n.-888+1540G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.4932802C= | CA2244625306 | CHRNE,GP1BA | c.198C= (p.Thr66=) c.-888+1540G= (n.-888+1540G=) | |
17 | g.4932802C>G | CA497677391 | CHRNE,GP1BA | c.198C>G (p.Thr66=) c.-888+1540G>C (n.-888+1540G>C) | |
17 | g.4932802C>T | CA8314716 | CHRNE,GP1BA | c.198C>T (p.Thr66=) c.-888+1540G>A (n.-888+1540G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932803C>A | CA397315064 | CHRNE,GP1BA | c.199C>A (p.Leu67Met) c.-888+1539G>T (n.-888+1539G>T) | |
17 | g.4932803C= | CA2244625307 | CHRNE,GP1BA | c.199C= (p.Leu67=) c.-888+1539G= (n.-888+1539G=) | |
17 | g.4932803C>G | CA8314718 | CHRNE,GP1BA | c.199C>G (p.Leu67Val) c.-888+1539G>C (n.-888+1539G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932803C>T | CA497677392 | CHRNE,GP1BA | c.199C>T (p.Leu67=) c.-888+1539G>A (n.-888+1539G>A) | |
17 | g.4932804T>A | CA397315070 | CHRNE,GP1BA | c.200T>A (p.Leu67Gln) c.-888+1538A>T (n.-888+1538A>T) | |
17 | g.4932804T>C | CA397315074 | CHRNE,GP1BA | c.200T>C (p.Leu67Pro) c.-888+1538A>G (n.-888+1538A>G) | |
17 | g.4932804T>G | CA397315076 | CHRNE,GP1BA | c.200T>G (p.Leu67Arg) c.-888+1538A>C (n.-888+1538A>C) | ClinVar dbSNP |
17 | g.4932804T= | CA2244625308 | CHRNE,GP1BA | c.200T= (p.Leu67=) c.-888+1538A= (n.-888+1538A=) | |
17 | g.4932805G>A | CA497677394 | CHRNE,GP1BA | c.201G>A (p.Leu67=) c.-888+1537C>T (n.-888+1537C>T) | |
17 | g.4932805G>C | CA497677395 | CHRNE,GP1BA | c.201G>C (p.Leu67=) c.-888+1537C>G (n.-888+1537C>G) | gnomAD v4 |
17 | g.4932805G>T | CA497677397 | CHRNE,GP1BA | c.201G>T (p.Leu67=) c.-888+1537C>A (n.-888+1537C>A) | |
17 | g.4932806A>C | CA397315081 | CHRNE,GP1BA | c.202A>C (p.Met68Leu) c.-888+1536T>G (n.-888+1536T>G) | |
17 | g.4932806A>G | CA397315083 | CHRNE,GP1BA | c.202A>G (p.Met68Val) c.-888+1536T>C (n.-888+1536T>C) | |
17 | g.4932806A>T | CA397315086 | CHRNE,GP1BA | c.202A>T (p.Met68Leu) c.-888+1536T>A (n.-888+1536T>A) | |
17 | g.4932807T>A | CA397315093 | CHRNE,GP1BA | c.203T>A (p.Met68Lys) c.-888+1535A>T (n.-888+1535A>T) | |
17 | g.4932807T>C | CA397315096 | CHRNE,GP1BA | c.203T>C (p.Met68Thr) c.-888+1535A>G (n.-888+1535A>G) | |
17 | g.4932807T>G | CA397315090 | CHRNE,GP1BA | c.203T>G (p.Met68Arg) c.-888+1535A>C (n.-888+1535A>C) | |
17 | g.4932808G>A | CA397315099 | CHRNE,GP1BA | c.204G>A (p.Met68Ile) c.-888+1534C>T (n.-888+1534C>T) | |
17 | g.4932808G>C | CA397315102 | CHRNE,GP1BA | c.204G>C (p.Met68Ile) c.-888+1534C>G (n.-888+1534C>G) | |
17 | g.4932808G>T | CA397315104 | CHRNE,GP1BA | c.204G>T (p.Met68Ile) c.-888+1534C>A (n.-888+1534C>A) | |
17 | g.4932809C>A | CA397315108 | CHRNE,GP1BA | c.205C>A (p.Pro69Thr) c.-888+1533G>T (n.-888+1533G>T) | dbSNP gnomAD v4 |
17 | g.4932809C= | CA2244625309 | CHRNE,GP1BA | c.205C= (p.Pro69=) c.-888+1533G= (n.-888+1533G=) | |
17 | g.4932809C>G | CA397315126 | CHRNE,GP1BA | c.205C>G (p.Pro69Ala) c.-888+1533G>C (n.-888+1533G>C) | |
17 | g.4932809C>T | CA397315127 | CHRNE,GP1BA | c.205C>T (p.Pro69Ser) c.-888+1533G>A (n.-888+1533G>A) | |
17 | g.4932810C>A | CA397315130 | CHRNE,GP1BA | c.206C>A (p.Pro69His) c.-888+1532G>T (n.-888+1532G>T) | |
17 | g.4932810C= | CA2244625310 | CHRNE,GP1BA | c.206C= (p.Pro69=) c.-888+1532G= (n.-888+1532G=) | |
17 | g.4932810C>G | CA397315132 | CHRNE,GP1BA | c.206C>G (p.Pro69Arg) c.-888+1532G>C (n.-888+1532G>C) | |
17 | g.4932810C>T | CA8314719 | CHRNE,GP1BA | c.206C>T (p.Pro69Leu) c.-888+1532G>A (n.-888+1532G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932811T>A | CA497677401 | CHRNE,GP1BA | c.207T>A (p.Pro69=) c.-888+1531A>T (n.-888+1531A>T) | |
17 | g.4932811T>C | CA497677402 | CHRNE,GP1BA | c.207T>C (p.Pro69=) c.-888+1531A>G (n.-888+1531A>G) | gnomAD v4 |
17 | g.4932811T>G | CA497677403 | CHRNE,GP1BA | c.207T>G (p.Pro69=) c.-888+1531A>C (n.-888+1531A>C) | |
17 | g.4932812T>A | CA397315140 | CHRNE,GP1BA | c.208T>A (p.Tyr70Asn) c.-888+1530A>T (n.-888+1530A>T) | |
17 | g.4932812T>C | CA397315141 | CHRNE,GP1BA | c.208T>C (p.Tyr70His) c.-888+1530A>G (n.-888+1530A>G) | |
17 | g.4932812T>G | CA397315143 | CHRNE,GP1BA | c.208T>G (p.Tyr70Asp) c.-888+1530A>C (n.-888+1530A>C) | |
17 | g.4932812T= | CA2244625311 | CHRNE,GP1BA | c.208T= (p.Tyr70=) c.-888+1530A= (n.-888+1530A=) | |
17 | g.4932813A>C | CA397315147 | CHRNE,GP1BA | c.209A>C (p.Tyr70Ser) c.-888+1529T>G (n.-888+1529T>G) | |
17 | g.4932813A>G | CA397315154 | CHRNE,GP1BA | c.209A>G (p.Tyr70Cys) c.-888+1529T>C (n.-888+1529T>C) | |
17 | g.4932813A>T | CA397315150 | CHRNE,GP1BA | c.209A>T (p.Tyr70Phe) c.-888+1529T>A (n.-888+1529T>A) | |
17 | g.4932813dup | CA8314720 | CHRNE,GP1BA | c.209dup (p.Tyr70Ter) c.-888+1529dup (n.-888+1529dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.4932815_4932816del | CA2733116488 | CHRNE,GP1BA | c.211_212del (p.Thr71SerfsTer9) c.-888+1528_-888+1529del (n.-888+1528_-888+1529del) | dbSNP |
17 | g.4932814C>A | CA397315157 | CHRNE,GP1BA | c.210C>A (p.Tyr70Ter) c.-888+1528G>T (n.-888+1528G>T) | |
17 | g.4932814C= | CA2244625312 | CHRNE,GP1BA | c.210C= (p.Tyr70=) c.-888+1528G= (n.-888+1528G=) | |
17 | g.4932814C>G | CA397315159 | CHRNE,GP1BA | c.210C>G (p.Tyr70Ter) c.-888+1528G>C (n.-888+1528G>C) | |
17 | g.4932814C>T | CA497677410 | CHRNE,GP1BA | c.210C>T (p.Tyr70=) c.-888+1528G>A (n.-888+1528G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932815A>C | CA397315162 | CHRNE,GP1BA | c.211A>C (p.Thr71Pro) c.-888+1527T>G (n.-888+1527T>G) | gnomAD v4 |
17 | g.4932815A>G | CA397315164 | CHRNE,GP1BA | c.211A>G (p.Thr71Ala) c.-888+1527T>C (n.-888+1527T>C) | |
17 | g.4932815A>T | CA397315166 | CHRNE,GP1BA | c.211A>T (p.Thr71Ser) c.-888+1527T>A (n.-888+1527T>A) | |
17 | g.4932816C>A | CA397315170 | CHRNE,GP1BA | c.212C>A (p.Thr71Asn) c.-888+1526G>T (n.-888+1526G>T) | |
17 | g.4932816C>G | CA397315172 | CHRNE,GP1BA | c.212C>G (p.Thr71Ser) c.-888+1526G>C (n.-888+1526G>C) | |
17 | g.4932816C>T | CA397315174 | CHRNE,GP1BA | c.212C>T (p.Thr71Ile) c.-888+1526G>A (n.-888+1526G>A) | |
17 | g.4932817T>A | CA497677412 | CHRNE,GP1BA | c.213T>A (p.Thr71=) c.-888+1525A>T (n.-888+1525A>T) | |
17 | g.4932817T>C | CA497677414 | CHRNE,GP1BA | c.213T>C (p.Thr71=) c.-888+1525A>G (n.-888+1525A>G) | |
17 | g.4932817T>G | CA497677415 | CHRNE,GP1BA | c.213T>G (p.Thr71=) c.-888+1525A>C (n.-888+1525A>C) | |
17 | g.4932818C>A | CA397315178 | CHRNE,GP1BA | c.214C>A (p.Arg72Ser) c.-888+1524G>T (n.-888+1524G>T) | |
17 | g.4932818C= | CA2244625313 | CHRNE,GP1BA | c.214C= (p.Arg72=) c.-888+1524G= (n.-888+1524G=) | |
17 | g.4932818C>G | CA397315180 | CHRNE,GP1BA | c.214C>G (p.Arg72Gly) c.-888+1524G>C (n.-888+1524G>C) | |
17 | g.4932818C>T | CA397315183 | CHRNE,GP1BA | c.214C>T (p.Arg72Cys) c.-888+1524G>A (n.-888+1524G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932819G>A | CA8314721 | CHRNE,GP1BA | c.215G>A (p.Arg72His) c.-888+1523C>T (n.-888+1523C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932819G>C | CA397315188 | CHRNE,GP1BA | c.215G>C (p.Arg72Pro) c.-888+1523C>G (n.-888+1523C>G) | |
17 | g.4932819G= | CA2244625314 | CHRNE,GP1BA | c.215G= (p.Arg72=) c.-888+1523C= (n.-888+1523C=) | |
17 | g.4932819G>T | CA397315186 | CHRNE,GP1BA | c.215G>T (p.Arg72Leu) c.-888+1523C>A (n.-888+1523C>A) | |
17 | g.4932820C>A | CA497677417 | CHRNE,GP1BA | c.216C>A (p.Arg72=) c.-888+1522G>T (n.-888+1522G>T) | |
17 | g.4932820C= | CA2244625315 | CHRNE,GP1BA | c.216C= (p.Arg72=) c.-888+1522G= (n.-888+1522G=) | |
17 | g.4932820C>G | CA497677419 | CHRNE,GP1BA | c.216C>G (p.Arg72=) c.-888+1522G>C (n.-888+1522G>C) | |
17 | g.4932820C>T | CA497677421 | CHRNE,GP1BA | c.216C>T (p.Arg72=) c.-888+1522G>A (n.-888+1522G>A) | dbSNP |
17 | g.4932821C>A | CA397315190 | CHRNE,GP1BA | c.217C>A (p.Leu73Ile) c.-888+1521G>T (n.-888+1521G>T) | |
17 | g.4932821C= | CA2244625316 | CHRNE,GP1BA | c.217C= (p.Leu73=) c.-888+1521G= (n.-888+1521G=) | |
17 | g.4932821C>G | CA397315189 | CHRNE,GP1BA | c.217C>G (p.Leu73Val) c.-888+1521G>C (n.-888+1521G>C) | |
17 | g.4932821C>T | CA116660 | CHRNE,GP1BA | c.217C>T (p.Leu73Phe) c.-888+1521G>A (n.-888+1521G>A) | ClinVar dbSNP |
17 | g.4932822T>A | CA397315193 | CHRNE,GP1BA | c.218T>A (p.Leu73His) c.-888+1520A>T (n.-888+1520A>T) | |
17 | g.4932822T>C | CA397315196 | CHRNE,GP1BA | c.218T>C (p.Leu73Pro) c.-888+1520A>G (n.-888+1520A>G) | |
17 | g.4932822T>G | CA397315197 | CHRNE,GP1BA | c.218T>G (p.Leu73Arg) c.-888+1520A>C (n.-888+1520A>C) | COSMIC |
17 | g.4932823C>A | CA287215773 | CHRNE,GP1BA | c.219C>A (p.Leu73=) c.-888+1519G>T (n.-888+1519G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932823C= | CA2244625317 | CHRNE,GP1BA | c.219C= (p.Leu73=) c.-888+1519G= (n.-888+1519G=) | |
17 | g.4932823C>G | CA497677427 | CHRNE,GP1BA | c.219C>G (p.Leu73=) c.-888+1519G>C (n.-888+1519G>C) | |
17 | g.4932823C>T | CA497677425 | CHRNE,GP1BA | c.219C>T (p.Leu73=) c.-888+1519G>A (n.-888+1519G>A) | |
17 | g.4932824A>C | CA397315199 | CHRNE,GP1BA | c.220A>C (p.Thr74Pro) c.-888+1518T>G (n.-888+1518T>G) | |
17 | g.4932824A>G | CA397315200 | CHRNE,GP1BA | c.220A>G (p.Thr74Ala) c.-888+1518T>C (n.-888+1518T>C) | |
17 | g.4932824A>T | CA397315203 | CHRNE,GP1BA | c.220A>T (p.Thr74Ser) c.-888+1518T>A (n.-888+1518T>A) | |
17 | g.4932825C>A | CA397315209 | CHRNE,GP1BA | c.221C>A (p.Thr74Asn) c.-888+1517G>T (n.-888+1517G>T) | |
17 | g.4932825C= | CA2244625318 | CHRNE,GP1BA | c.221C= (p.Thr74=) c.-888+1517G= (n.-888+1517G=) | |
17 | g.4932825C>G | CA397315212 | CHRNE,GP1BA | c.221C>G (p.Thr74Ser) c.-888+1517G>C (n.-888+1517G>C) | |
17 | g.4932825C>T | CA397315215 | CHRNE,GP1BA | c.221C>T (p.Thr74Ile) c.-888+1517G>A (n.-888+1517G>A) | dbSNP |
17 | g.4932826T>A | CA497677429 | CHRNE,GP1BA | c.222T>A (p.Thr74=) c.-888+1516A>T (n.-888+1516A>T) | |
17 | g.4932826T>C | CA497677431 | CHRNE,GP1BA | c.222T>C (p.Thr74=) c.-888+1516A>G (n.-888+1516A>G) | |
17 | g.4932826T>G | CA497677433 | CHRNE,GP1BA | c.222T>G (p.Thr74=) c.-888+1516A>C (n.-888+1516A>C) | |
17 | g.4932827C>A | CA397315219 | CHRNE,GP1BA | c.223C>A (p.Gln75Lys) c.-888+1515G>T (n.-888+1515G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932827C= | CA2244625319 | CHRNE,GP1BA | c.223C= (p.Gln75=) c.-888+1515G= (n.-888+1515G=) | |
17 | g.4932827C>G | CA397315227 | CHRNE,GP1BA | c.223C>G (p.Gln75Glu) c.-888+1515G>C (n.-888+1515G>C) | |
17 | g.4932827C>T | CA397315229 | CHRNE,GP1BA | c.223C>T (p.Gln75Ter) c.-888+1515G>A (n.-888+1515G>A) | |
17 | g.4932828A>C | CA397315236 | CHRNE,GP1BA | c.224A>C (p.Gln75Pro) c.-888+1514T>G (n.-888+1514T>G) | |
17 | g.4932828A>G | CA397315233 | CHRNE,GP1BA | c.224A>G (p.Gln75Arg) c.-888+1514T>C (n.-888+1514T>C) | |
17 | g.4932828A>T | CA397315231 | CHRNE,GP1BA | c.224A>T (p.Gln75Leu) c.-888+1514T>A (n.-888+1514T>A) | |
17 | g.4932829G>A | CA497677440 | CHRNE,GP1BA | c.225G>A (p.Gln75=) c.-888+1513C>T (n.-888+1513C>T) | gnomAD v4 |
17 | g.4932829G>C | CA397315239 | CHRNE,GP1BA | c.225G>C (p.Gln75His) c.-888+1513C>G (n.-888+1513C>G) | dbSNP gnomAD v4 |
17 | g.4932829G= | CA2244625320 | CHRNE,GP1BA | c.225G= (p.Gln75=) c.-888+1513C= (n.-888+1513C=) | |
17 | g.4932829G>T | CA397315242 | CHRNE,GP1BA | c.225G>T (p.Gln75His) c.-888+1513C>A (n.-888+1513C>A) | |
17 | g.4932830C>A | CA397315245 | CHRNE,GP1BA | c.226C>A (p.Leu76Met) c.-888+1512G>T (n.-888+1512G>T) | gnomAD v4 |
17 | g.4932830C>G | CA397315248 | CHRNE,GP1BA | c.226C>G (p.Leu76Val) c.-888+1512G>C (n.-888+1512G>C) | |
17 | g.4932830C>T | CA497677443 | CHRNE,GP1BA | c.226C>T (p.Leu76=) c.-888+1512G>A (n.-888+1512G>A) | |
17 | g.4932831T>A | CA397315251 | CHRNE,GP1BA | c.227T>A (p.Leu76Gln) c.-888+1511A>T (n.-888+1511A>T) | |
17 | g.4932831T>C | CA397315254 | CHRNE,GP1BA | c.227T>C (p.Leu76Pro) c.-888+1511A>G (n.-888+1511A>G) | |
17 | g.4932831T>G | CA397315256 | CHRNE,GP1BA | c.227T>G (p.Leu76Arg) c.-888+1511A>C (n.-888+1511A>C) | |
17 | g.4932832G>A | CA497677449 | CHRNE,GP1BA | c.228G>A (p.Leu76=) c.-888+1510C>T (n.-888+1510C>T) | |
17 | g.4932832G>C | CA497677450 | CHRNE,GP1BA | c.228G>C (p.Leu76=) c.-888+1510C>G (n.-888+1510C>G) | |
17 | g.4932832G>T | CA497677451 | CHRNE,GP1BA | c.228G>T (p.Leu76=) c.-888+1510C>A (n.-888+1510C>A) | |
17 | g.4932833A= | CA2244625321 | CHRNE,GP1BA | c.229A= (p.Asn77=) c.-888+1509T= (n.-888+1509T=) | |
17 | g.4932833A>C | CA397315259 | CHRNE,GP1BA | c.229A>C (p.Asn77His) c.-888+1509T>G (n.-888+1509T>G) | |
17 | g.4932833A>G | CA287215774 | CHRNE,GP1BA | c.229A>G (p.Asn77Asp) c.-888+1509T>C (n.-888+1509T>C) | dbSNP |
17 | g.4932833A>T | CA397315266 | CHRNE,GP1BA | c.229A>T (p.Asn77Tyr) c.-888+1509T>A (n.-888+1509T>A) | |
17 | g.4932834A= | CA2244625322 | CHRNE,GP1BA | c.230A= (p.Asn77=) c.-888+1508T= (n.-888+1508T=) | |
17 | g.4932834A>C | CA397315270 | CHRNE,GP1BA | c.230A>C (p.Asn77Thr) c.-888+1508T>G (n.-888+1508T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932834A>G | CA397315272 | CHRNE,GP1BA | c.230A>G (p.Asn77Ser) c.-888+1508T>C (n.-888+1508T>C) | |
17 | g.4932834A>T | CA397315278 | CHRNE,GP1BA | c.230A>T (p.Asn77Ile) c.-888+1508T>A (n.-888+1508T>A) | |
17 | g.4932835C>A | CA397315283 | CHRNE,GP1BA | c.231C>A (p.Asn77Lys) c.-888+1507G>T (n.-888+1507G>T) | |
17 | g.4932835C>G | CA397315279 | CHRNE,GP1BA | c.231C>G (p.Asn77Lys) c.-888+1507G>C (n.-888+1507G>C) | gnomAD v4 |
17 | g.4932835C>T | CA497677454 | CHRNE,GP1BA | c.231C>T (p.Asn77=) c.-888+1507G>A (n.-888+1507G>A) | |
17 | g.4932836C>A | CA397315286 | CHRNE,GP1BA | c.232C>A (p.Leu78Ile) c.-888+1506G>T (n.-888+1506G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932836C= | CA2244625323 | CHRNE,GP1BA | c.232C= (p.Leu78=) c.-888+1506G= (n.-888+1506G=) | |
17 | g.4932836C>G | CA397315290 | CHRNE,GP1BA | c.232C>G (p.Leu78Val) c.-888+1506G>C (n.-888+1506G>C) | |
17 | g.4932836C>T | CA497677456 | CHRNE,GP1BA | c.232C>T (p.Leu78=) c.-888+1506G>A (n.-888+1506G>A) | |
17 | g.4932837T>A | CA397315296 | CHRNE,GP1BA | c.233T>A (p.Leu78Gln) c.-888+1505A>T (n.-888+1505A>T) | |
17 | g.4932837T>C | CA397315298 | CHRNE,GP1BA | c.233T>C (p.Leu78Pro) c.-888+1505A>G (n.-888+1505A>G) | gnomAD v4 |
17 | g.4932837T>G | CA397315301 | CHRNE,GP1BA | c.233T>G (p.Leu78Arg) c.-888+1505A>C (n.-888+1505A>C) | |
17 | g.4932838A>C | CA497677459 | CHRNE,GP1BA | c.234A>C (p.Leu78=) c.-888+1504T>G (n.-888+1504T>G) | |
17 | g.4932838A>G | CA497677460 | CHRNE,GP1BA | c.234A>G (p.Leu78=) c.-888+1504T>C (n.-888+1504T>C) | |
17 | g.4932838A>T | CA497677461 | CHRNE,GP1BA | c.234A>T (p.Leu78=) c.-888+1504T>A (n.-888+1504T>A) | |
17 | g.4932839G>A | CA397315306 | CHRNE,GP1BA | c.235G>A (p.Asp79Asn) c.-888+1503C>T (n.-888+1503C>T) | |
17 | g.4932839G>C | CA397315308 | CHRNE,GP1BA | c.235G>C (p.Asp79His) c.-888+1503C>G (n.-888+1503C>G) | gnomAD v4 |
17 | g.4932839G>T | CA397315311 | CHRNE,GP1BA | c.235G>T (p.Asp79Tyr) c.-888+1503C>A (n.-888+1503C>A) | |
17 | g.4932840A= | CA2244625324 | CHRNE,GP1BA | c.236A= (p.Asp79=) c.-888+1502T= (n.-888+1502T=) | |
17 | g.4932840A>C | CA397315317 | CHRNE,GP1BA | c.236A>C (p.Asp79Ala) c.-888+1502T>G (n.-888+1502T>G) | |
17 | g.4932840A>G | CA8314722 | CHRNE,GP1BA | c.236A>G (p.Asp79Gly) c.-888+1502T>C (n.-888+1502T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932840A>T | CA397315320 | CHRNE,GP1BA | c.236A>T (p.Asp79Val) c.-888+1502T>A (n.-888+1502T>A) | |
17 | g.4932840dup | CA2695224138 | CHRNE,GP1BA | c.236dup (p.Asp79GlufsTer2) c.-888+1502dup (n.-888+1502dup) | |
17 | g.4932841T>A | CA397315323 | CHRNE,GP1BA | c.237T>A (p.Asp79Glu) c.-888+1501A>T (n.-888+1501A>T) | |
17 | g.4932841T>C | CA8314723 | CHRNE,GP1BA | c.237T>C (p.Asp79=) c.-888+1501A>G (n.-888+1501A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932841T>G | CA397315328 | CHRNE,GP1BA | c.237T>G (p.Asp79Glu) c.-888+1501A>C (n.-888+1501A>C) | |
17 | g.4932841T= | CA2244625325 | CHRNE,GP1BA | c.237T= (p.Asp79=) c.-888+1501A= (n.-888+1501A=) | |
17 | g.4932842A= | CA2244625326 | CHRNE,GP1BA | c.238A= (p.Arg80=) c.-888+1500T= (n.-888+1500T=) | |
17 | g.4932842A>C | CA497677466 | CHRNE,GP1BA | c.238A>C (p.Arg80=) c.-888+1500T>G (n.-888+1500T>G) | |
17 | g.4932842A>G | CA397315334 | CHRNE,GP1BA | c.238A>G (p.Arg80Gly) c.-888+1500T>C (n.-888+1500T>C) | dbSNP |
17 | g.4932842A>T | CA397315331 | CHRNE,GP1BA | c.238A>T (p.Arg80Trp) c.-888+1500T>A (n.-888+1500T>A) | |
17 | g.4932843G>A | CA397315338 | CHRNE,GP1BA | c.239G>A (p.Arg80Lys) c.-888+1499C>T (n.-888+1499C>T) | |
17 | g.4932843G>C | CA397315340 | CHRNE,GP1BA | c.239G>C (p.Arg80Thr) c.-888+1499C>G (n.-888+1499C>G) | dbSNP gnomAD v4 |
17 | g.4932843G= | CA2244625327 | CHRNE,GP1BA | c.239G= (p.Arg80=) c.-888+1499C= (n.-888+1499C=) | |
17 | g.4932843G>T | CA397315344 | CHRNE,GP1BA | c.239G>T (p.Arg80Met) c.-888+1499C>A (n.-888+1499C>A) | |
17 | g.4932844G>A | CA8314724 | CHRNE,GP1BA | c.240G>A (p.Arg80=) c.-888+1498C>T (n.-888+1498C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932844G>C | CA397315349 | CHRNE,GP1BA | c.240G>C (p.Arg80Ser) c.-888+1498C>G (n.-888+1498C>G) | |
17 | g.4932844G= | CA2244625328 | CHRNE,GP1BA | c.240G= (p.Arg80=) c.-888+1498C= (n.-888+1498C=) | |
17 | g.4932844G>T | CA397315351 | CHRNE,GP1BA | c.240G>T (p.Arg80Ser) c.-888+1498C>A (n.-888+1498C>A) | |
17 | g.4932845T>A | CA397315360 | CHRNE,GP1BA | c.241T>A (p.Cys81Ser) c.-888+1497A>T (n.-888+1497A>T) | |
17 | g.4932845T>C | CA287215802 | CHRNE,GP1BA | c.241T>C (p.Cys81Arg) c.-888+1497A>G (n.-888+1497A>G) | ClinVar dbSNP |
17 | g.4932845T>G | CA397315356 | CHRNE,GP1BA | c.241T>G (p.Cys81Gly) c.-888+1497A>C (n.-888+1497A>C) | |
17 | g.4932845T= | CA2244625329 | CHRNE,GP1BA | c.241T= (p.Cys81=) c.-888+1497A= (n.-888+1497A=) | |
17 | g.4932846G>A | CA397315374 | CHRNE,GP1BA | c.242G>A (p.Cys81Tyr) c.-888+1496C>T (n.-888+1496C>T) | |
17 | g.4932846G>C | CA397315376 | CHRNE,GP1BA | c.242G>C (p.Cys81Ser) c.-888+1496C>G (n.-888+1496C>G) | |
17 | g.4932846G>T | CA397315379 | CHRNE,GP1BA | c.242G>T (p.Cys81Phe) c.-888+1496C>A (n.-888+1496C>A) | |
17 | g.4932847C>A | CA397315380 | CHRNE,GP1BA | c.243C>A (p.Cys81Ter) c.-888+1495G>T (n.-888+1495G>T) | |
17 | g.4932847C= | CA2244625330 | CHRNE,GP1BA | c.243C= (p.Cys81=) c.-888+1495G= (n.-888+1495G=) | |
17 | g.4932847C>G | CA397315387 | CHRNE,GP1BA | c.243C>G (p.Cys81Trp) c.-888+1495G>C (n.-888+1495G>C) | dbSNP |
17 | g.4932847C>T | CA287215807 | CHRNE,GP1BA | c.243C>T (p.Cys81=) c.-888+1495G>A (n.-888+1495G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932848G>A | CA8314725 | CHRNE,GP1BA | c.244G>A (p.Glu82Lys) c.-888+1494C>T (n.-888+1494C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932848G>C | CA8314726 | CHRNE,GP1BA | c.244G>C (p.Glu82Gln) c.-888+1494C>G (n.-888+1494C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932848G= | CA2244625331 | CHRNE,GP1BA | c.244G= (p.Glu82=) c.-888+1494C= (n.-888+1494C=) | |
17 | g.4932848G>T | CA397315391 | CHRNE,GP1BA | c.244G>T (p.Glu82Ter) c.-888+1494C>A (n.-888+1494C>A) | |
17 | g.4932849A>C | CA397315396 | CHRNE,GP1BA | c.245A>C (p.Glu82Ala) c.-888+1493T>G (n.-888+1493T>G) | |
17 | g.4932849A>G | CA397315400 | CHRNE,GP1BA | c.245A>G (p.Glu82Gly) c.-888+1493T>C (n.-888+1493T>C) | |
17 | g.4932849A>T | CA397315398 | CHRNE,GP1BA | c.245A>T (p.Glu82Val) c.-888+1493T>A (n.-888+1493T>A) | |
17 | g.4932854_4932862del | CA2635578663 | CHRNE,GP1BA | c.250_258del (p.Thr84_Leu86del) c.-888+1485_-888+1493del (n.-888+1485_-888+1493del) | gnomAD v4 |
17 | g.4932850G>A | CA8314727 | CHRNE,GP1BA | c.246G>A (p.Glu82=) c.-888+1492C>T (n.-888+1492C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932850G>C | CA397315404 | CHRNE,GP1BA | c.246G>C (p.Glu82Asp) c.-888+1492C>G (n.-888+1492C>G) | |
17 | g.4932850G= | CA2244625332 | CHRNE,GP1BA | c.246G= (p.Glu82=) c.-888+1492C= (n.-888+1492C=) | |
17 | g.4932850G>T | CA397315407 | CHRNE,GP1BA | c.246G>T (p.Glu82Asp) c.-888+1492C>A (n.-888+1492C>A) | |
17 | g.4932850dup | CA2843566318 | CHRNE,GP1BA | c.246dup (p.Leu83AlafsTer?) c.-888+1492dup (n.-888+1492dup) | |
17 | g.4932851C>A | CA397315410 | CHRNE,GP1BA | c.247C>A (p.Leu83Ile) c.-888+1491G>T (n.-888+1491G>T) | |
17 | g.4932851C= | CA2244625333 | CHRNE,GP1BA | c.247C= (p.Leu83=) c.-888+1491G= (n.-888+1491G=) | |
17 | g.4932851C>G | CA397315413 | CHRNE,GP1BA | c.247C>G (p.Leu83Val) c.-888+1491G>C (n.-888+1491G>C) | |
17 | g.4932851C>T | CA8314728 | CHRNE,GP1BA | c.247C>T (p.Leu83Phe) c.-888+1491G>A (n.-888+1491G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932852T>A | CA397315428 | CHRNE,GP1BA | c.248T>A (p.Leu83His) c.-888+1490A>T (n.-888+1490A>T) | |
17 | g.4932852T>C | CA397315430 | CHRNE,GP1BA | c.248T>C (p.Leu83Pro) c.-888+1490A>G (n.-888+1490A>G) | |
17 | g.4932852T>G | CA397315433 | CHRNE,GP1BA | c.248T>G (p.Leu83Arg) c.-888+1490A>C (n.-888+1490A>C) | |
17 | g.4932853C>A | CA497677483 | CHRNE,GP1BA | c.249C>A (p.Leu83=) c.-888+1489G>T (n.-888+1489G>T) | |
17 | g.4932853C>G | CA497677484 | CHRNE,GP1BA | c.249C>G (p.Leu83=) c.-888+1489G>C (n.-888+1489G>C) | |
17 | g.4932853C>T | CA497677485 | CHRNE,GP1BA | c.249C>T (p.Leu83=) c.-888+1489G>A (n.-888+1489G>A) | gnomAD v4 |
17 | g.4932855_4932857del | CA2573152976 | CHRNE,GP1BA | c.251_253del (p.Thr84del) c.-888+1487_-888+1489del (n.-888+1487_-888+1489del) | ClinVar dbSNP |
17 | g.4932854A>C | CA397315436 | CHRNE,GP1BA | c.250A>C (p.Thr84Pro) c.-888+1488T>G (n.-888+1488T>G) | |
17 | g.4932854A>G | CA397315437 | CHRNE,GP1BA | c.250A>G (p.Thr84Ala) c.-888+1488T>C (n.-888+1488T>C) | |
17 | g.4932854A>T | CA397315440 | CHRNE,GP1BA | c.250A>T (p.Thr84Ser) c.-888+1488T>A (n.-888+1488T>A) |