| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 17 | g.4932855C>A | CA397315458 | CHRNE,GP1BA | c.251C>A (p.Thr84Asn) c.-888+1487G>T (n.-888+1487G>T) | |
| 17 | g.4932855C>G | CA397315453 | CHRNE,GP1BA | c.251C>G (p.Thr84Ser) c.-888+1487G>C (n.-888+1487G>C) | |
| 17 | g.4932855C>T | CA397315455 | CHRNE,GP1BA | c.251C>T (p.Thr84Ile) c.-888+1487G>A (n.-888+1487G>A) | |
| 17 | g.4932856del | CA2695224139 | CHRNE,GP1BA | c.252del (p.Lys85SerfsTer27) c.-888+1487del (n.-888+1487del) | |
| 17 | g.4932856C>A | CA497677486 | CHRNE,GP1BA | c.252C>A (p.Thr84=) c.-888+1486G>T (n.-888+1486G>T) | |
| 17 | g.4932856C= | CA2244625334 | CHRNE,GP1BA | c.252C= (p.Thr84=) c.-888+1486G= (n.-888+1486G=) | |
| 17 | g.4932856C>G | CA497677487 | CHRNE,GP1BA | c.252C>G (p.Thr84=) c.-888+1486G>C (n.-888+1486G>C) | |
| 17 | g.4932856C>T | CA497677490 | CHRNE,GP1BA | c.252C>T (p.Thr84=) c.-888+1486G>A (n.-888+1486G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932857A>C | CA397315460 | CHRNE,GP1BA | c.253A>C (p.Lys85Gln) c.-888+1485T>G (n.-888+1485T>G) | |
| 17 | g.4932857A>G | CA397315463 | CHRNE,GP1BA | c.253A>G (p.Lys85Glu) c.-888+1485T>C (n.-888+1485T>C) | |
| 17 | g.4932857A>T | CA397315468 | CHRNE,GP1BA | c.253A>T (p.Lys85Ter) c.-888+1485T>A (n.-888+1485T>A) | |
| 17 | g.4932858A>C | CA397315471 | CHRNE,GP1BA | c.254A>C (p.Lys85Thr) c.-888+1484T>G (n.-888+1484T>G) | |
| 17 | g.4932858A>G | CA397315473 | CHRNE,GP1BA | c.254A>G (p.Lys85Arg) c.-888+1484T>C (n.-888+1484T>C) | gnomAD v4 |
| 17 | g.4932858A>T | CA397315476 | CHRNE,GP1BA | c.254A>T (p.Lys85Met) c.-888+1484T>A (n.-888+1484T>A) | |
| 17 | g.4932859G>A | CA497677493 | CHRNE,GP1BA | c.255G>A (p.Lys85=) c.-888+1483C>T (n.-888+1483C>T) | |
| 17 | g.4932859G>C | CA397315482 | CHRNE,GP1BA | c.255G>C (p.Lys85Asn) c.-888+1483C>G (n.-888+1483C>G) | |
| 17 | g.4932859G>T | CA397315484 | CHRNE,GP1BA | c.255G>T (p.Lys85Asn) c.-888+1483C>A (n.-888+1483C>A) | |
| 17 | g.4932860C>A | CA397315487 | CHRNE,GP1BA | c.256C>A (p.Leu86Ile) c.-888+1482G>T (n.-888+1482G>T) | |
| 17 | g.4932860C= | CA2244625335 | CHRNE,GP1BA | c.256C= (p.Leu86=) c.-888+1482G= (n.-888+1482G=) | |
| 17 | g.4932860C>G | CA397315491 | CHRNE,GP1BA | c.256C>G (p.Leu86Val) c.-888+1482G>C (n.-888+1482G>C) | |
| 17 | g.4932860C>T | CA8314729 | CHRNE,GP1BA | c.256C>T (p.Leu86Phe) c.-888+1482G>A (n.-888+1482G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932861T>A | CA397315502 | CHRNE,GP1BA | c.257T>A (p.Leu86His) c.-888+1481A>T (n.-888+1481A>T) | |
| 17 | g.4932861T>C | CA397315500 | CHRNE,GP1BA | c.257T>C (p.Leu86Pro) c.-888+1481A>G (n.-888+1481A>G) | |
| 17 | g.4932861T>G | CA397315497 | CHRNE,GP1BA | c.257T>G (p.Leu86Arg) c.-888+1481A>C (n.-888+1481A>C) | |
| 17 | g.4932862C>A | CA497677498 | CHRNE,GP1BA | c.258C>A (p.Leu86=) c.-888+1480G>T (n.-888+1480G>T) | |
| 17 | g.4932862C= | CA2244625336 | CHRNE,GP1BA | c.258C= (p.Leu86=) c.-888+1480G= (n.-888+1480G=) | |
| 17 | g.4932862C>G | CA497677499 | CHRNE,GP1BA | c.258C>G (p.Leu86=) c.-888+1480G>C (n.-888+1480G>C) | |
| 17 | g.4932862C>T | CA497677500 | CHRNE,GP1BA | c.258C>T (p.Leu86=) c.-888+1480G>A (n.-888+1480G>A) | dbSNP gnomAD v4 |
| 17 | g.4932863C>A | CA397315510 | CHRNE,GP1BA | c.259C>A (p.Gln87Lys) c.-888+1479G>T (n.-888+1479G>T) | |
| 17 | g.4932863C>G | CA397315505 | CHRNE,GP1BA | c.259C>G (p.Gln87Glu) c.-888+1479G>C (n.-888+1479G>C) | |
| 17 | g.4932863C>T | CA397315509 | CHRNE,GP1BA | c.259C>T (p.Gln87Ter) c.-888+1479G>A (n.-888+1479G>A) | |
| 17 | g.4932864A>C | CA397315515 | CHRNE,GP1BA | c.260A>C (p.Gln87Pro) c.-888+1478T>G (n.-888+1478T>G) | |
| 17 | g.4932864A>G | CA397315519 | CHRNE,GP1BA | c.260A>G (p.Gln87Arg) c.-888+1478T>C (n.-888+1478T>C) | |
| 17 | g.4932864A>T | CA397315522 | CHRNE,GP1BA | c.260A>T (p.Gln87Leu) c.-888+1478T>A (n.-888+1478T>A) | |
| 17 | g.4932865G>A | CA497677505 | CHRNE,GP1BA | c.261G>A (p.Gln87=) c.-888+1477C>T (n.-888+1477C>T) | |
| 17 | g.4932865G>C | CA287215855 | CHRNE,GP1BA | c.261G>C (p.Gln87His) c.-888+1477C>G (n.-888+1477C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932865G= | CA2244625337 | CHRNE,GP1BA | c.261G= (p.Gln87=) c.-888+1477C= (n.-888+1477C=) | |
| 17 | g.4932865G>T | CA397315530 | CHRNE,GP1BA | c.261G>T (p.Gln87His) c.-888+1477C>A (n.-888+1477C>A) | |
| 17 | g.4932866G>A | CA397315533 | CHRNE,GP1BA | c.262G>A (p.Val88Ile) c.-888+1476C>T (n.-888+1476C>T) | dbSNP |
| 17 | g.4932866G>C | CA397315535 | CHRNE,GP1BA | c.262G>C (p.Val88Leu) c.-888+1476C>G (n.-888+1476C>G) | |
| 17 | g.4932866G= | CA2244625338 | CHRNE,GP1BA | c.262G= (p.Val88=) c.-888+1476C= (n.-888+1476C=) | |
| 17 | g.4932866G>T | CA397315534 | CHRNE,GP1BA | c.262G>T (p.Val88Phe) c.-888+1476C>A (n.-888+1476C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932867T>A | CA397315536 | CHRNE,GP1BA | c.263T>A (p.Val88Asp) c.-888+1475A>T (n.-888+1475A>T) | |
| 17 | g.4932867T>C | CA397315537 | CHRNE,GP1BA | c.263T>C (p.Val88Ala) c.-888+1475A>G (n.-888+1475A>G) | |
| 17 | g.4932867T>G | CA397315538 | CHRNE,GP1BA | c.263T>G (p.Val88Gly) c.-888+1475A>C (n.-888+1475A>C) | |
| 17 | g.4932868C>A | CA497677508 | CHRNE,GP1BA | c.264C>A (p.Val88=) c.-888+1474G>T (n.-888+1474G>T) | |
| 17 | g.4932868C= | CA2244625339 | CHRNE,GP1BA | c.264C= (p.Val88=) c.-888+1474G= (n.-888+1474G=) | |
| 17 | g.4932868C>G | CA497677509 | CHRNE,GP1BA | c.264C>G (p.Val88=) c.-888+1474G>C (n.-888+1474G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932868C>T | CA8314730 | CHRNE,GP1BA | c.264C>T (p.Val88=) c.-888+1474G>A (n.-888+1474G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932869G>A | CA397315542 | CHRNE,GP1BA | c.265G>A (p.Asp89Asn) c.-888+1473C>T (n.-888+1473C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932869G>C | CA397315544 | CHRNE,GP1BA | c.265G>C (p.Asp89His) c.-888+1473C>G (n.-888+1473C>G) | |
| 17 | g.4932869G= | CA2244625340 | CHRNE,GP1BA | c.265G= (p.Asp89=) c.-888+1473C= (n.-888+1473C=) | |
| 17 | g.4932869G>T | CA397315543 | CHRNE,GP1BA | c.265G>T (p.Asp89Tyr) c.-888+1473C>A (n.-888+1473C>A) | gnomAD v4 |
| 17 | g.4932870A>C | CA397315546 | CHRNE,GP1BA | c.266A>C (p.Asp89Ala) c.-888+1472T>G (n.-888+1472T>G) | |
| 17 | g.4932870A>G | CA397315549 | CHRNE,GP1BA | c.266A>G (p.Asp89Gly) c.-888+1472T>C (n.-888+1472T>C) | |
| 17 | g.4932870A>T | CA397315552 | CHRNE,GP1BA | c.266A>T (p.Asp89Val) c.-888+1472T>A (n.-888+1472T>A) | |
| 17 | g.4932870dup | CA2695224140 | CHRNE,GP1BA | c.266dup (p.Asp89GlufsTer?) c.-888+1472dup (n.-888+1472dup) | |
| 17 | g.4932871T>A | CA397315555 | CHRNE,GP1BA | c.267T>A (p.Asp89Glu) c.-888+1471A>T (n.-888+1471A>T) | |
| 17 | g.4932871T>C | CA497677511 | CHRNE,GP1BA | c.267T>C (p.Asp89=) c.-888+1471A>G (n.-888+1471A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932871T>G | CA397315558 | CHRNE,GP1BA | c.267T>G (p.Asp89Glu) c.-888+1471A>C (n.-888+1471A>C) | |
| 17 | g.4932871T= | CA2244625341 | CHRNE,GP1BA | c.267T= (p.Asp89=) c.-888+1471A= (n.-888+1471A=) | |
| 17 | g.4932872G>A | CA397315560 | CHRNE,GP1BA | c.268G>A (p.Gly90Arg) c.-888+1470C>T (n.-888+1470C>T) | |
| 17 | g.4932872G>C | CA397315562 | CHRNE,GP1BA | c.268G>C (p.Gly90Arg) c.-888+1470C>G (n.-888+1470C>G) | |
| 17 | g.4932872G>T | CA397315567 | CHRNE,GP1BA | c.268G>T (p.Gly90Trp) c.-888+1470C>A (n.-888+1470C>A) | |
| 17 | g.4932873G>A | CA397315575 | CHRNE,GP1BA | c.269G>A (p.Gly90Glu) c.-888+1469C>T (n.-888+1469C>T) | |
| 17 | g.4932873G>C | CA397315578 | CHRNE,GP1BA | c.269G>C (p.Gly90Ala) c.-888+1469C>G (n.-888+1469C>G) | |
| 17 | g.4932873G>T | CA397315582 | CHRNE,GP1BA | c.269G>T (p.Gly90Val) c.-888+1469C>A (n.-888+1469C>A) | |
| 17 | g.4932874G>A | CA497677516 | CHRNE,GP1BA | c.270G>A (p.Gly90=) c.-888+1468C>T (n.-888+1468C>T) | gnomAD v4 |
| 17 | g.4932874G>C | CA497677515 | CHRNE,GP1BA | c.270G>C (p.Gly90=) c.-888+1468C>G (n.-888+1468C>G) | |
| 17 | g.4932874G>T | CA497677514 | CHRNE,GP1BA | c.270G>T (p.Gly90=) c.-888+1468C>A (n.-888+1468C>A) | |
| 17 | g.4932875A= | CA2244625342 | CHRNE,GP1BA | c.271A= (p.Thr91=) c.-888+1467T= (n.-888+1467T=) | |
| 17 | g.4932875A>C | CA397315586 | CHRNE,GP1BA | c.271A>C (p.Thr91Pro) c.-888+1467T>G (n.-888+1467T>G) | |
| 17 | g.4932875A>G | CA397315588 | CHRNE,GP1BA | c.271A>G (p.Thr91Ala) c.-888+1467T>C (n.-888+1467T>C) | |
| 17 | g.4932875A>T | CA8314731 | CHRNE,GP1BA | c.271A>T (p.Thr91Ser) c.-888+1467T>A (n.-888+1467T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932876C>A | CA8314733 | CHRNE,GP1BA | c.272C>A (p.Thr91Lys) c.-888+1466G>T (n.-888+1466G>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932876C= | CA2244625343 | CHRNE,GP1BA | c.272C= (p.Thr91=) c.-888+1466G= (n.-888+1466G=) | |
| 17 | g.4932876C>G | CA397315596 | CHRNE,GP1BA | c.272C>G (p.Thr91Arg) c.-888+1466G>C (n.-888+1466G>C) | |
| 17 | g.4932876C>T | CA8314732 | CHRNE,GP1BA | c.272C>T (p.Thr91Met) c.-888+1466G>A (n.-888+1466G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932877G>A | CA8314734 | CHRNE,GP1BA | c.273G>A (p.Thr91=) c.-888+1465C>T (n.-888+1465C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932877G>C | CA497677522 | CHRNE,GP1BA | c.273G>C (p.Thr91=) c.-888+1465C>G (n.-888+1465C>G) | |
| 17 | g.4932877G= | CA2244625344 | CHRNE,GP1BA | c.273G= (p.Thr91=) c.-888+1465C= (n.-888+1465C=) | |
| 17 | g.4932877G>T | CA497677521 | CHRNE,GP1BA | c.273G>T (p.Thr91=) c.-888+1465C>A (n.-888+1465C>A) | |
| 17 | g.4932878C>A | CA397315599 | CHRNE,GP1BA | c.274C>A (p.Leu92Met) c.-888+1464G>T (n.-888+1464G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932878C= | CA2244625345 | CHRNE,GP1BA | c.274C= (p.Leu92=) c.-888+1464G= (n.-888+1464G=) | |
| 17 | g.4932878C>G | CA397315598 | CHRNE,GP1BA | c.274C>G (p.Leu92Val) c.-888+1464G>C (n.-888+1464G>C) | |
| 17 | g.4932878C>T | CA497677525 | CHRNE,GP1BA | c.274C>T (p.Leu92=) c.-888+1464G>A (n.-888+1464G>A) | |
| 17 | g.4932879del | CA2635578680 | CHRNE,GP1BA | c.275del (p.Leu92ArgfsTer20) c.-888+1463del (n.-888+1463del) | gnomAD v4 |
| 17 | g.4932879T>A | CA397315602 | CHRNE,GP1BA | c.275T>A (p.Leu92Gln) c.-888+1463A>T (n.-888+1463A>T) | |
| 17 | g.4932879T>C | CA397315609 | CHRNE,GP1BA | c.275T>C (p.Leu92Pro) c.-888+1463A>G (n.-888+1463A>G) | |
| 17 | g.4932879T>G | CA397315613 | CHRNE,GP1BA | c.275T>G (p.Leu92Arg) c.-888+1463A>C (n.-888+1463A>C) | |
| 17 | g.4932880G>A | CA497677527 | CHRNE,GP1BA | c.276G>A (p.Leu92=) c.-888+1462C>T (n.-888+1462C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932880G>C | CA497677529 | CHRNE,GP1BA | c.276G>C (p.Leu92=) c.-888+1462C>G (n.-888+1462C>G) | |
| 17 | g.4932880G= | CA2244625346 | CHRNE,GP1BA | c.276G= (p.Leu92=) c.-888+1462C= (n.-888+1462C=) | |
| 17 | g.4932880G>T | CA497677531 | CHRNE,GP1BA | c.276G>T (p.Leu92=) c.-888+1462C>A (n.-888+1462C>A) | |
| 17 | g.4932881C>A | CA397315618 | CHRNE,GP1BA | c.277C>A (p.Pro93Thr) c.-888+1461G>T (n.-888+1461G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932881C= | CA2244625347 | CHRNE,GP1BA | c.277C= (p.Pro93=) c.-888+1461G= (n.-888+1461G=) | |
| 17 | g.4932881C>G | CA397315620 | CHRNE,GP1BA | c.277C>G (p.Pro93Ala) c.-888+1461G>C (n.-888+1461G>C) | |
| 17 | g.4932881C>T | CA397315624 | CHRNE,GP1BA | c.277C>T (p.Pro93Ser) c.-888+1461G>A (n.-888+1461G>A) | |
| 17 | g.4932882dup | CA2695224141 | CHRNE,GP1BA | c.278dup (p.Val94SerfsTer?) c.-888+1461dup (n.-888+1461dup) | |
| 17 | g.4932882C>A | CA397315627 | CHRNE,GP1BA | c.278C>A (p.Pro93Gln) c.-888+1460G>T (n.-888+1460G>T) | |
| 17 | g.4932882C>G | CA397315629 | CHRNE,GP1BA | c.278C>G (p.Pro93Arg) c.-888+1460G>C (n.-888+1460G>C) | |
| 17 | g.4932882C>T | CA397315631 | CHRNE,GP1BA | c.278C>T (p.Pro93Leu) c.-888+1460G>A (n.-888+1460G>A) | |
| 17 | g.4932883A>C | CA497677534 | CHRNE,GP1BA | c.279A>C (p.Pro93=) c.-888+1459T>G (n.-888+1459T>G) | |
| 17 | g.4932883A>G | CA497677535 | CHRNE,GP1BA | c.279A>G (p.Pro93=) c.-888+1459T>C (n.-888+1459T>C) | gnomAD v4 |
| 17 | g.4932883A>T | CA497677536 | CHRNE,GP1BA | c.279A>T (p.Pro93=) c.-888+1459T>A (n.-888+1459T>A) | |
| 17 | g.4932884G>A | CA397315635 | CHRNE,GP1BA | c.280G>A (p.Val94Met) c.-888+1458C>T (n.-888+1458C>T) | |
| 17 | g.4932884G>C | CA397315637 | CHRNE,GP1BA | c.280G>C (p.Val94Leu) c.-888+1458C>G (n.-888+1458C>G) | |
| 17 | g.4932884G>T | CA397315640 | CHRNE,GP1BA | c.280G>T (p.Val94Leu) c.-888+1458C>A (n.-888+1458C>A) |