UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932627_4932635del | CA2695224136 | CHRNE,GP1BA | c.23_31del (p.Leu8_Leu10del) c.-888+1713_-888+1721del (n.-888+1713_-888+1721del) | |
| 17 | g.4932632C>A | CA397313811 | CHRNE,GP1BA | c.28C>A (p.Leu10Met) c.-888+1710G>T (n.-888+1710G>T) | |
| 17 | g.4932632C>G | CA397313814 | CHRNE,GP1BA | c.28C>G (p.Leu10Val) c.-888+1710G>C (n.-888+1710G>C) | |
| 17 | g.4932632C>T | CA497676979 | CHRNE,GP1BA | c.28C>T (p.Leu10=) c.-888+1710G>A (n.-888+1710G>A) | |
| 17 | g.4932633T>A | CA397313817 | CHRNE,GP1BA | c.29T>A (p.Leu10Gln) c.-888+1709A>T (n.-888+1709A>T) | |
| 17 | g.4932633T>C | CA397313820 | CHRNE,GP1BA | c.29T>C (p.Leu10Pro) c.-888+1709A>G (n.-888+1709A>G) | |
| 17 | g.4932633T>G | CA397313824 | CHRNE,GP1BA | c.29T>G (p.Leu10Arg) c.-888+1709A>C (n.-888+1709A>C) | |
| 17 | g.4932634G>A | CA8314680 | CHRNE,GP1BA | c.30G>A (p.Leu10=) c.-888+1708C>T (n.-888+1708C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932634G>C | CA497676984 | CHRNE,GP1BA | c.30G>C (p.Leu10=) c.-888+1708C>G (n.-888+1708C>G) | |
| 17 | g.4932634G= | CA2244625236 | CHRNE,GP1BA | c.30G= (p.Leu10=) c.-888+1708C= (n.-888+1708C=) | |
| 17 | g.4932634G>T | CA497676985 | CHRNE,GP1BA | c.30G>T (p.Leu10=) c.-888+1708C>A (n.-888+1708C>A) | |
| 17 | g.4932637_4932641del | CA497676986 | CHRNE,GP1BA | c.33_37del (p.Ser12LeufsTer8) c.-888+1704_-888+1708del (n.-888+1704_-888+1708del) | |
| 17 | g.4932635C>A | CA397313843 | CHRNE,GP1BA | c.31C>A (p.Pro11Thr) c.-888+1707G>T (n.-888+1707G>T) | |
| 17 | g.4932635C>G | CA397313839 | CHRNE,GP1BA | c.31C>G (p.Pro11Ala) c.-888+1707G>C (n.-888+1707G>C) | |
| 17 | g.4932635C>T | CA397313841 | CHRNE,GP1BA | c.31C>T (p.Pro11Ser) c.-888+1707G>A (n.-888+1707G>A) | |
| 17 | g.4932636C>A | CA397313847 | CHRNE,GP1BA | c.32C>A (p.Pro11Gln) c.-888+1706G>T (n.-888+1706G>T) | |
| 17 | g.4932636C= | CA2244625237 | CHRNE,GP1BA | c.32C= (p.Pro11=) c.-888+1706G= (n.-888+1706G=) | |
| 17 | g.4932636C>G | CA397313850 | CHRNE,GP1BA | c.32C>G (p.Pro11Arg) c.-888+1706G>C (n.-888+1706G>C) | |
| 17 | g.4932636C>T | CA8314681 | CHRNE,GP1BA | c.32C>T (p.Pro11Leu) c.-888+1706G>A (n.-888+1706G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932637A>C | CA497677015 | CHRNE,GP1BA | c.33A>C (p.Pro11=) c.-888+1705T>G (n.-888+1705T>G) | |
| 17 | g.4932637A>G | CA497677018 | CHRNE,GP1BA | c.33A>G (p.Pro11=) c.-888+1705T>C (n.-888+1705T>C) | |
| 17 | g.4932637A>T | CA497677020 | CHRNE,GP1BA | c.33A>T (p.Pro11=) c.-888+1705T>A (n.-888+1705T>A) | |
| 17 | g.4932638A= | CA2244625238 | CHRNE,GP1BA | c.34A= (p.Ser12=) c.-888+1704T= (n.-888+1704T=) | |
| 17 | g.4932638A>C | CA8314682 | CHRNE,GP1BA | c.34A>C (p.Ser12Arg) c.-888+1704T>G (n.-888+1704T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932638A>G | CA397313860 | CHRNE,GP1BA | c.34A>G (p.Ser12Gly) c.-888+1704T>C (n.-888+1704T>C) | |
| 17 | g.4932638A>T | CA397313865 | CHRNE,GP1BA | c.34A>T (p.Ser12Cys) c.-888+1704T>A (n.-888+1704T>A) | |
| 17 | g.4932639G>A | CA397313869 | CHRNE,GP1BA | c.35G>A (p.Ser12Asn) c.-888+1703C>T (n.-888+1703C>T) | gnomAD v4 |
| 17 | g.4932639G>C | CA397313872 | CHRNE,GP1BA | c.35G>C (p.Ser12Thr) c.-888+1703C>G (n.-888+1703C>G) | |
| 17 | g.4932639G>T | CA397313880 | CHRNE,GP1BA | c.35G>T (p.Ser12Ile) c.-888+1703C>A (n.-888+1703C>A) | |
| 17 | g.4932640C>A | CA287215628 | CHRNE,GP1BA | c.36C>A (p.Ser12Arg) c.-888+1702G>T (n.-888+1702G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932640C= | CA2244625239 | CHRNE,GP1BA | c.36C= (p.Ser12=) c.-888+1702G= (n.-888+1702G=) | |
| 17 | g.4932640C>G | CA397313889 | CHRNE,GP1BA | c.36C>G (p.Ser12Arg) c.-888+1702G>C (n.-888+1702G>C) | |
| 17 | g.4932640C>T | CA497677028 | CHRNE,GP1BA | c.36C>T (p.Ser12=) c.-888+1702G>A (n.-888+1702G>A) | |
| 17 | g.4932641C>A | CA397313897 | CHRNE,GP1BA | c.37C>A (p.Pro13Thr) c.-888+1701G>T (n.-888+1701G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932641C= | CA2244625240 | CHRNE,GP1BA | c.37C= (p.Pro13=) c.-888+1701G= (n.-888+1701G=) | |
| 17 | g.4932641C>G | CA8314683 | CHRNE,GP1BA | c.37C>G (p.Pro13Ala) c.-888+1701G>C (n.-888+1701G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932641C>T | CA397313892 | CHRNE,GP1BA | c.37C>T (p.Pro13Ser) c.-888+1701G>A (n.-888+1701G>A) | |
| 17 | g.4932642C>A | CA397313902 | CHRNE,GP1BA | c.38C>A (p.Pro13His) c.-888+1700G>T (n.-888+1700G>T) | |
| 17 | g.4932642C>G | CA397313905 | CHRNE,GP1BA | c.38C>G (p.Pro13Arg) c.-888+1700G>C (n.-888+1700G>C) | |
| 17 | g.4932642C>T | CA397313913 | CHRNE,GP1BA | c.38C>T (p.Pro13Leu) c.-888+1700G>A (n.-888+1700G>A) | |
| 17 | g.4932643C>A | CA497677038 | CHRNE,GP1BA | c.39C>A (p.Pro13=) c.-888+1699G>T (n.-888+1699G>T) | |
| 17 | g.4932643C>G | CA497677041 | CHRNE,GP1BA | c.39C>G (p.Pro13=) c.-888+1699G>C (n.-888+1699G>C) | |
| 17 | g.4932643C>T | CA497677042 | CHRNE,GP1BA | c.39C>T (p.Pro13=) c.-888+1699G>A (n.-888+1699G>A) | COSMIC |
| 17 | g.4932644T>A | CA397313916 | CHRNE,GP1BA | c.40T>A (p.Leu14Ile) c.-888+1698A>T (n.-888+1698A>T) | |
| 17 | g.4932644T>C | CA497677043 | CHRNE,GP1BA | c.40T>C (p.Leu14=) c.-888+1698A>G (n.-888+1698A>G) | |
| 17 | g.4932644T>G | CA397313919 | CHRNE,GP1BA | c.40T>G (p.Leu14Val) c.-888+1698A>C (n.-888+1698A>C) | COSMIC |
| 17 | g.4932645T>A | CA397313927 | CHRNE,GP1BA | c.41T>A (p.Leu14Ter) c.-888+1697A>T (n.-888+1697A>T) | |
| 17 | g.4932645T>C | CA397313930 | CHRNE,GP1BA | c.41T>C (p.Leu14Ser) c.-888+1697A>G (n.-888+1697A>G) | |
| 17 | g.4932645T>G | CA397313933 | CHRNE,GP1BA | c.41T>G (p.Leu14Ter) c.-888+1697A>C (n.-888+1697A>C) | |
| 17 | g.4932646A>C | CA397313936 | CHRNE,GP1BA | c.42A>C (p.Leu14Phe) c.-888+1696T>G (n.-888+1696T>G) | |
| 17 | g.4932646A>G | CA497677048 | CHRNE,GP1BA | c.42A>G (p.Leu14=) c.-888+1696T>C (n.-888+1696T>C) | |
| 17 | g.4932646A>T | CA397313937 | CHRNE,GP1BA | c.42A>T (p.Leu14Phe) c.-888+1696T>A (n.-888+1696T>A) | |
| 17 | g.4932647C>A | CA397313948 | CHRNE,GP1BA | c.43C>A (p.His15Asn) c.-888+1695G>T (n.-888+1695G>T) | |
| 17 | g.4932647C= | CA2244625241 | CHRNE,GP1BA | c.43C= (p.His15=) c.-888+1695G= (n.-888+1695G=) | |
| 17 | g.4932647C>G | CA397313953 | CHRNE,GP1BA | c.43C>G (p.His15Asp) c.-888+1695G>C (n.-888+1695G>C) | |
| 17 | g.4932647C>T | CA397313960 | CHRNE,GP1BA | c.43C>T (p.His15Tyr) c.-888+1695G>A (n.-888+1695G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932648A>C | CA397313968 | CHRNE,GP1BA | c.44A>C (p.His15Pro) c.-888+1694T>G (n.-888+1694T>G) | |
| 17 | g.4932648A>G | CA397313962 | CHRNE,GP1BA | c.44A>G (p.His15Arg) c.-888+1694T>C (n.-888+1694T>C) | dbSNP |
| 17 | g.4932648A>T | CA397313965 | CHRNE,GP1BA | c.44A>T (p.His15Leu) c.-888+1694T>A (n.-888+1694T>A) | |
| 17 | g.4932649C>A | CA397313979 | CHRNE,GP1BA | c.45C>A (p.His15Gln) c.-888+1693G>T (n.-888+1693G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932649C= | CA2244625242 | CHRNE,GP1BA | c.45C= (p.His15=) c.-888+1693G= (n.-888+1693G=) | |
| 17 | g.4932649C>G | CA397313984 | CHRNE,GP1BA | c.45C>G (p.His15Gln) c.-888+1693G>C (n.-888+1693G>C) | |
| 17 | g.4932649C>T | CA287215636 | CHRNE,GP1BA | c.45C>T (p.His15=) c.-888+1693G>A (n.-888+1693G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932650C>A | CA397313988 | CHRNE,GP1BA | c.46C>A (p.Pro16Thr) c.-888+1692G>T (n.-888+1692G>T) | |
| 17 | g.4932650C= | CA2244625243 | CHRNE,GP1BA | c.46C= (p.Pro16=) c.-888+1692G= (n.-888+1692G=) | |
| 17 | g.4932650C>G | CA397313992 | CHRNE,GP1BA | c.46C>G (p.Pro16Ala) c.-888+1692G>C (n.-888+1692G>C) | |
| 17 | g.4932650C>T | CA397313994 | CHRNE,GP1BA | c.46C>T (p.Pro16Ser) c.-888+1692G>A (n.-888+1692G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932651C>A | CA397313995 | CHRNE,GP1BA | c.47C>A (p.Pro16His) c.-888+1691G>T (n.-888+1691G>T) | |
| 17 | g.4932651C>G | CA397313997 | CHRNE,GP1BA | c.47C>G (p.Pro16Arg) c.-888+1691G>C (n.-888+1691G>C) | |
| 17 | g.4932651C>T | CA397313998 | CHRNE,GP1BA | c.47C>T (p.Pro16Leu) c.-888+1691G>A (n.-888+1691G>A) | |
| 17 | g.4932652C>A | CA497677062 | CHRNE,GP1BA | c.48C>A (p.Pro16=) c.-888+1690G>T (n.-888+1690G>T) | |
| 17 | g.4932652C>G | CA497677065 | CHRNE,GP1BA | c.48C>G (p.Pro16=) c.-888+1690G>C (n.-888+1690G>C) | |
| 17 | g.4932652C>T | CA497677066 | CHRNE,GP1BA | c.48C>T (p.Pro16=) c.-888+1690G>A (n.-888+1690G>A) | |
| 17 | g.4932653C>A | CA8314684 | CHRNE,GP1BA | c.49C>A (p.His17Asn) c.-888+1689G>T (n.-888+1689G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932653C= | CA2244625244 | CHRNE,GP1BA | c.49C= (p.His17=) c.-888+1689G= (n.-888+1689G=) | |
| 17 | g.4932653C>G | CA397314001 | CHRNE,GP1BA | c.49C>G (p.His17Asp) c.-888+1689G>C (n.-888+1689G>C) | |
| 17 | g.4932653C>T | CA397314002 | CHRNE,GP1BA | c.49C>T (p.His17Tyr) c.-888+1689G>A (n.-888+1689G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932654A>C | CA397314010 | CHRNE,GP1BA | c.50A>C (p.His17Pro) c.-888+1688T>G (n.-888+1688T>G) | |
| 17 | g.4932654A>G | CA397314007 | CHRNE,GP1BA | c.50A>G (p.His17Arg) c.-888+1688T>C (n.-888+1688T>C) | |
| 17 | g.4932654A>T | CA397314005 | CHRNE,GP1BA | c.50A>T (p.His17Leu) c.-888+1688T>A (n.-888+1688T>A) | |
| 17 | g.4932655C>A | CA8314685 | CHRNE,GP1BA | c.51C>A (p.His17Gln) c.-888+1687G>T (n.-888+1687G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932655C= | CA2244625245 | CHRNE,GP1BA | c.51C= (p.His17=) c.-888+1687G= (n.-888+1687G=) | |
| 17 | g.4932655C>G | CA397314015 | CHRNE,GP1BA | c.51C>G (p.His17Gln) c.-888+1687G>C (n.-888+1687G>C) | COSMIC |
| 17 | g.4932655C>T | CA8314686 | CHRNE,GP1BA | c.51C>T (p.His17=) c.-888+1687G>A (n.-888+1687G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932658del | CA2576136020 | CHRNE,GP1BA | c.54del (p.Ile19SerfsTer11) c.-888+1687del (n.-888+1687del) | |
| 17 | g.4932656C>A | CA8314687 | CHRNE,GP1BA | c.52C>A (p.Pro18Thr) c.-888+1686G>T (n.-888+1686G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932656C= | CA2244625246 | CHRNE,GP1BA | c.52C= (p.Pro18=) c.-888+1686G= (n.-888+1686G=) | |
| 17 | g.4932656C>G | CA397314019 | CHRNE,GP1BA | c.52C>G (p.Pro18Ala) c.-888+1686G>C (n.-888+1686G>C) | gnomAD v4 |
| 17 | g.4932656C>T | CA397314020 | CHRNE,GP1BA | c.52C>T (p.Pro18Ser) c.-888+1686G>A (n.-888+1686G>A) | |
| 17 | g.4932657C>A | CA397314024 | CHRNE,GP1BA | c.53C>A (p.Pro18His) c.-888+1685G>T (n.-888+1685G>T) | |
| 17 | g.4932657C>G | CA397314031 | CHRNE,GP1BA | c.53C>G (p.Pro18Arg) c.-888+1685G>C (n.-888+1685G>C) | |
| 17 | g.4932657C>T | CA397314032 | CHRNE,GP1BA | c.53C>T (p.Pro18Leu) c.-888+1685G>A (n.-888+1685G>A) | |
| 17 | g.4932658C>A | CA497677070 | CHRNE,GP1BA | c.54C>A (p.Pro18=) c.-888+1684G>T (n.-888+1684G>T) | gnomAD v4 |
| 17 | g.4932658C= | CA2244625247 | CHRNE,GP1BA | c.54C= (p.Pro18=) c.-888+1684G= (n.-888+1684G=) | |
| 17 | g.4932658C>G | CA497677072 | CHRNE,GP1BA | c.54C>G (p.Pro18=) c.-888+1684G>C (n.-888+1684G>C) | |
| 17 | g.4932658C>T | CA497677073 | CHRNE,GP1BA | c.54C>T (p.Pro18=) c.-888+1684G>A (n.-888+1684G>A) | dbSNP gnomAD v4 |
| 17 | g.4932659A>C | CA397314036 | CHRNE,GP1BA | c.55A>C (p.Ile19Leu) c.-888+1683T>G (n.-888+1683T>G) | |
| 17 | g.4932659A>G | CA397314038 | CHRNE,GP1BA | c.55A>G (p.Ile19Val) c.-888+1683T>C (n.-888+1683T>C) | |
| 17 | g.4932659A>T | CA397314040 | CHRNE,GP1BA | c.55A>T (p.Ile19Phe) c.-888+1683T>A (n.-888+1683T>A) | |
| 17 | g.4932660T>A | CA397314043 | CHRNE,GP1BA | c.56T>A (p.Ile19Asn) c.-888+1682A>T (n.-888+1682A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932660T>C | CA397314045 | CHRNE,GP1BA | c.56T>C (p.Ile19Thr) c.-888+1682A>G (n.-888+1682A>G) | |
| 17 | g.4932660T>G | CA397314047 | CHRNE,GP1BA | c.56T>G (p.Ile19Ser) c.-888+1682A>C (n.-888+1682A>C) | |
| 17 | g.4932660T= | CA2244625248 | CHRNE,GP1BA | c.56T= (p.Ile19=) c.-888+1682A= (n.-888+1682A=) | |
| 17 | g.4932661C>A | CA497677076 | CHRNE,GP1BA | c.57C>A (p.Ile19=) c.-888+1681G>T (n.-888+1681G>T) | |
| 17 | g.4932661C>G | CA397314050 | CHRNE,GP1BA | c.57C>G (p.Ile19Met) c.-888+1681G>C (n.-888+1681G>C) | |
| 17 | g.4932661C>T | CA497677078 | CHRNE,GP1BA | c.57C>T (p.Ile19=) c.-888+1681G>A (n.-888+1681G>A) | |
| 17 | g.4932662T>A | CA397314061 | CHRNE,GP1BA | c.58T>A (p.Cys20Ser) c.-888+1680A>T (n.-888+1680A>T) | |
| 17 | g.4932662T>C | CA397314057 | CHRNE,GP1BA | c.58T>C (p.Cys20Arg) c.-888+1680A>G (n.-888+1680A>G) | |
| 17 | g.4932662T>G | CA397314055 | CHRNE,GP1BA | c.58T>G (p.Cys20Gly) c.-888+1680A>C (n.-888+1680A>C) | ClinVar dbSNP |
| 17 | g.4932663G>A | CA397314064 | CHRNE,GP1BA | c.59G>A (p.Cys20Tyr) c.-888+1679C>T (n.-888+1679C>T) | dbSNP |
| 17 | g.4932663G>C | CA397314066 | CHRNE,GP1BA | c.59G>C (p.Cys20Ser) c.-888+1679C>G (n.-888+1679C>G) | |
| 17 | g.4932663G= | CA2244625249 | CHRNE,GP1BA | c.59G= (p.Cys20=) c.-888+1679C= (n.-888+1679C=) | |
| 17 | g.4932663G>T | CA397314068 | CHRNE,GP1BA | c.59G>T (p.Cys20Phe) c.-888+1679C>A (n.-888+1679C>A) | |
| 17 | g.4932664T>A | CA397314073 | CHRNE,GP1BA | c.60T>A (p.Cys20Ter) c.-888+1678A>T (n.-888+1678A>T) | |
| 17 | g.4932664T>C | CA497677081 | CHRNE,GP1BA | c.60T>C (p.Cys20=) c.-888+1678A>G (n.-888+1678A>G) | |
| 17 | g.4932664T>G | CA397314075 | CHRNE,GP1BA | c.60T>G (p.Cys20Trp) c.-888+1678A>C (n.-888+1678A>C) | |
| 17 | g.4932665G>A | CA397314079 | CHRNE,GP1BA | c.61G>A (p.Glu21Lys) c.-888+1677C>T (n.-888+1677C>T) | |
| 17 | g.4932665G>C | CA397314081 | CHRNE,GP1BA | c.61G>C (p.Glu21Gln) c.-888+1677C>G (n.-888+1677C>G) | COSMIC |
| 17 | g.4932665G>T | CA397314084 | CHRNE,GP1BA | c.61G>T (p.Glu21Ter) c.-888+1677C>A (n.-888+1677C>A) | |
| 17 | g.4932666A>C | CA397314086 | CHRNE,GP1BA | c.62A>C (p.Glu21Ala) c.-888+1676T>G (n.-888+1676T>G) | gnomAD v4 |
| 17 | g.4932666A>G | CA397314089 | CHRNE,GP1BA | c.62A>G (p.Glu21Gly) c.-888+1676T>C (n.-888+1676T>C) | |
| 17 | g.4932666A>T | CA397314092 | CHRNE,GP1BA | c.62A>T (p.Glu21Val) c.-888+1676T>A (n.-888+1676T>A) | |
| 17 | g.4932667G>A | CA497677084 | CHRNE,GP1BA | c.63G>A (p.Glu21=) c.-888+1675C>T (n.-888+1675C>T) | |
| 17 | g.4932667G>C | CA397314095 | CHRNE,GP1BA | c.63G>C (p.Glu21Asp) c.-888+1675C>G (n.-888+1675C>G) | |
| 17 | g.4932667G>T | CA397314097 | CHRNE,GP1BA | c.63G>T (p.Glu21Asp) c.-888+1675C>A (n.-888+1675C>A) | COSMIC |
| 17 | g.4932668G>A | CA397314100 | CHRNE,GP1BA | c.64G>A (p.Val22Ile) c.-888+1674C>T (n.-888+1674C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932668G>C | CA397314103 | CHRNE,GP1BA | c.64G>C (p.Val22Leu) c.-888+1674C>G (n.-888+1674C>G) | |
| 17 | g.4932668G= | CA2244625250 | CHRNE,GP1BA | c.64G= (p.Val22=) c.-888+1674C= (n.-888+1674C=) | |
| 17 | g.4932668G>T | CA397314098 | CHRNE,GP1BA | c.64G>T (p.Val22Phe) c.-888+1674C>A (n.-888+1674C>A) | ClinVar |
| 17 | g.4932669T>A | CA397314106 | CHRNE,GP1BA | c.65T>A (p.Val22Asp) c.-888+1673A>T (n.-888+1673A>T) | dbSNP |
| 17 | g.4932669T>C | CA8314688 | CHRNE,GP1BA | c.65T>C (p.Val22Ala) c.-888+1673A>G (n.-888+1673A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932669T>G | CA397314110 | CHRNE,GP1BA | c.65T>G (p.Val22Gly) c.-888+1673A>C (n.-888+1673A>C) | |
| 17 | g.4932669T= | CA2244625251 | CHRNE,GP1BA | c.65T= (p.Val22=) c.-888+1673A= (n.-888+1673A=) | |
| 17 | g.4932670C>A | CA497677089 | CHRNE,GP1BA | c.66C>A (p.Val22=) c.-888+1672G>T (n.-888+1672G>T) | |
| 17 | g.4932670C= | CA2244625252 | CHRNE,GP1BA | c.66C= (p.Val22=) c.-888+1672G= (n.-888+1672G=) | |
| 17 | g.4932670C>G | CA497677092 | CHRNE,GP1BA | c.66C>G (p.Val22=) c.-888+1672G>C (n.-888+1672G>C) | dbSNP |
| 17 | g.4932670C>T | CA497677090 | CHRNE,GP1BA | c.66C>T (p.Val22=) c.-888+1672G>A (n.-888+1672G>A) | |
| 17 | g.4932671T>A | CA397314111 | CHRNE,GP1BA | c.67T>A (p.Ser23Thr) c.-888+1671A>T (n.-888+1671A>T) | |
| 17 | g.4932671T>C | CA397314112 | CHRNE,GP1BA | c.67T>C (p.Ser23Pro) c.-888+1671A>G (n.-888+1671A>G) | |
| 17 | g.4932671T>G | CA8314689 | CHRNE,GP1BA | c.67T>G (p.Ser23Ala) c.-888+1671A>C (n.-888+1671A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932671T= | CA2244625253 | CHRNE,GP1BA | c.67T= (p.Ser23=) c.-888+1671A= (n.-888+1671A=) | |
| 17 | g.4932672C>A | CA8314690 | CHRNE,GP1BA | c.68C>A (p.Ser23Tyr) c.-888+1670G>T (n.-888+1670G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932672C= | CA2244625254 | CHRNE,GP1BA | c.68C= (p.Ser23=) c.-888+1670G= (n.-888+1670G=) | |
| 17 | g.4932672C>G | CA397314115 | CHRNE,GP1BA | c.68C>G (p.Ser23Cys) c.-888+1670G>C (n.-888+1670G>C) | |
| 17 | g.4932672C>T | CA397314117 | CHRNE,GP1BA | c.68C>T (p.Ser23Phe) c.-888+1670G>A (n.-888+1670G>A) | |
| 17 | g.4932673C>A | CA497677097 | CHRNE,GP1BA | c.69C>A (p.Ser23=) c.-888+1669G>T (n.-888+1669G>T) | |
| 17 | g.4932673C>G | CA497677098 | CHRNE,GP1BA | c.69C>G (p.Ser23=) c.-888+1669G>C (n.-888+1669G>C) | |
| 17 | g.4932673C>T | CA497677099 | CHRNE,GP1BA | c.69C>T (p.Ser23=) c.-888+1669G>A (n.-888+1669G>A) | |
| 17 | g.4932674A>C | CA397314122 | CHRNE,GP1BA | c.70A>C (p.Lys24Gln) c.-888+1668T>G (n.-888+1668T>G) | |
| 17 | g.4932674A>G | CA397314126 | CHRNE,GP1BA | c.70A>G (p.Lys24Glu) c.-888+1668T>C (n.-888+1668T>C) | gnomAD v4 |
| 17 | g.4932674A>T | CA397314128 | CHRNE,GP1BA | c.70A>T (p.Lys24Ter) c.-888+1668T>A (n.-888+1668T>A) | |
| 17 | g.4932675A>C | CA397314140 | CHRNE,GP1BA | c.71A>C (p.Lys24Thr) c.-888+1667T>G (n.-888+1667T>G) | gnomAD v4 |
| 17 | g.4932675A>G | CA397314134 | CHRNE,GP1BA | c.71A>G (p.Lys24Arg) c.-888+1667T>C (n.-888+1667T>C) | |
| 17 | g.4932675A>T | CA397314136 | CHRNE,GP1BA | c.71A>T (p.Lys24Ile) c.-888+1667T>A (n.-888+1667T>A) | |
| 17 | g.4932676A>C | CA397314143 | CHRNE,GP1BA | c.72A>C (p.Lys24Asn) c.-888+1666T>G (n.-888+1666T>G) | |
| 17 | g.4932676A>G | CA497677103 | CHRNE,GP1BA | c.72A>G (p.Lys24=) c.-888+1666T>C (n.-888+1666T>C) | |
| 17 | g.4932676A>T | CA397314146 | CHRNE,GP1BA | c.72A>T (p.Lys24Asn) c.-888+1666T>A (n.-888+1666T>A) | |
| 17 | g.4932677G>A | CA397314151 | CHRNE,GP1BA | c.73G>A (p.Val25Met) c.-888+1665C>T (n.-888+1665C>T) | |
| 17 | g.4932677G>C | CA397314154 | CHRNE,GP1BA | c.73G>C (p.Val25Leu) c.-888+1665C>G (n.-888+1665C>G) | |
| 17 | g.4932677G>T | CA397314157 | CHRNE,GP1BA | c.73G>T (p.Val25Leu) c.-888+1665C>A (n.-888+1665C>A) | |
| 17 | g.4932678T>A | CA397314158 | CHRNE,GP1BA | c.74T>A (p.Val25Glu) c.-888+1664A>T (n.-888+1664A>T) | |
| 17 | g.4932678T>C | CA397314161 | CHRNE,GP1BA | c.74T>C (p.Val25Ala) c.-888+1664A>G (n.-888+1664A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932678T>G | CA397314166 | CHRNE,GP1BA | c.74T>G (p.Val25Gly) c.-888+1664A>C (n.-888+1664A>C) | |
| 17 | g.4932678T= | CA2244625255 | CHRNE,GP1BA | c.74T= (p.Val25=) c.-888+1664A= (n.-888+1664A=) | |
| 17 | g.4932679G>A | CA497677106 | CHRNE,GP1BA | c.75G>A (p.Val25=) c.-888+1663C>T (n.-888+1663C>T) | gnomAD v4 |
| 17 | g.4932679G>C | CA497677107 | CHRNE,GP1BA | c.75G>C (p.Val25=) c.-888+1663C>G (n.-888+1663C>G) | |
| 17 | g.4932679G>T | CA497677108 | CHRNE,GP1BA | c.75G>T (p.Val25=) c.-888+1663C>A (n.-888+1663C>A) | |
| 17 | g.4932680G>A | CA397314172 | CHRNE,GP1BA | c.76G>A (p.Ala26Thr) c.-888+1662C>T (n.-888+1662C>T) | |
| 17 | g.4932680G>C | CA397314175 | CHRNE,GP1BA | c.76G>C (p.Ala26Pro) c.-888+1662C>G (n.-888+1662C>G) | |
| 17 | g.4932680G>T | CA397314178 | CHRNE,GP1BA | c.76G>T (p.Ala26Ser) c.-888+1662C>A (n.-888+1662C>A) | |
| 17 | g.4932681C>A | CA397314192 | CHRNE,GP1BA | c.77C>A (p.Ala26Asp) c.-888+1661G>T (n.-888+1661G>T) | |
| 17 | g.4932681C= | CA2244625256 | CHRNE,GP1BA | c.77C= (p.Ala26=) c.-888+1661G= (n.-888+1661G=) | |
| 17 | g.4932681C>G | CA8314691 | CHRNE,GP1BA | c.77C>G (p.Ala26Gly) c.-888+1661G>C (n.-888+1661G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932681C>T | CA397314181 | CHRNE,GP1BA | c.77C>T (p.Ala26Val) c.-888+1661G>A (n.-888+1661G>A) | |
| 17 | g.4932682C>A | CA497677114 | CHRNE,GP1BA | c.78C>A (p.Ala26=) c.-888+1660G>T (n.-888+1660G>T) | |
| 17 | g.4932682C>G | CA497677117 | CHRNE,GP1BA | c.78C>G (p.Ala26=) c.-888+1660G>C (n.-888+1660G>C) | |
| 17 | g.4932682C>T | CA497677116 | CHRNE,GP1BA | c.78C>T (p.Ala26=) c.-888+1660G>A (n.-888+1660G>A) | |
| 17 | g.4932683A>C | CA397314199 | CHRNE,GP1BA | c.79A>C (p.Ser27Arg) c.-888+1659T>G (n.-888+1659T>G) | |
| 17 | g.4932683A>G | CA397314202 | CHRNE,GP1BA | c.79A>G (p.Ser27Gly) c.-888+1659T>C (n.-888+1659T>C) | |
| 17 | g.4932683A>T | CA397314205 | CHRNE,GP1BA | c.79A>T (p.Ser27Cys) c.-888+1659T>A (n.-888+1659T>A) | |
| 17 | g.4932684G>A | CA397314207 | CHRNE,GP1BA | c.80G>A (p.Ser27Asn) c.-888+1658C>T (n.-888+1658C>T) | COSMIC |
| 17 | g.4932684G>C | CA397314209 | CHRNE,GP1BA | c.80G>C (p.Ser27Thr) c.-888+1658C>G (n.-888+1658C>G) | |
| 17 | g.4932684G>T | CA397314210 | CHRNE,GP1BA | c.80G>T (p.Ser27Ile) c.-888+1658C>A (n.-888+1658C>A) | |
| 17 | g.4932685C>A | CA397314211 | CHRNE,GP1BA | c.81C>A (p.Ser27Arg) c.-888+1657G>T (n.-888+1657G>T) | |
| 17 | g.4932685C>G | CA397314214 | CHRNE,GP1BA | c.81C>G (p.Ser27Arg) c.-888+1657G>C (n.-888+1657G>C) | |
| 17 | g.4932685C>T | CA497677122 | CHRNE,GP1BA | c.81C>T (p.Ser27=) c.-888+1657G>A (n.-888+1657G>A) | |
| 17 | g.4932686C>A | CA397314217 | CHRNE,GP1BA | c.82C>A (p.His28Asn) c.-888+1656G>T (n.-888+1656G>T) | |
| 17 | g.4932686C>G | CA397314218 | CHRNE,GP1BA | c.82C>G (p.His28Asp) c.-888+1656G>C (n.-888+1656G>C) | |
| 17 | g.4932686C>T | CA397314220 | CHRNE,GP1BA | c.82C>T (p.His28Tyr) c.-888+1656G>A (n.-888+1656G>A) | |
| 17 | g.4932687A>C | CA397314223 | CHRNE,GP1BA | c.83A>C (p.His28Pro) c.-888+1655T>G (n.-888+1655T>G) | |
| 17 | g.4932687A>G | CA397314226 | CHRNE,GP1BA | c.83A>G (p.His28Arg) c.-888+1655T>C (n.-888+1655T>C) | gnomAD v4 |
| 17 | g.4932687A>T | CA397314232 | CHRNE,GP1BA | c.83A>T (p.His28Leu) c.-888+1655T>A (n.-888+1655T>A) | |
| 17 | g.4932688C>A | CA397314238 | CHRNE,GP1BA | c.84C>A (p.His28Gln) c.-888+1654G>T (n.-888+1654G>T) | |
| 17 | g.4932688C= | CA2244625257 | CHRNE,GP1BA | c.84C= (p.His28=) c.-888+1654G= (n.-888+1654G=) | |
| 17 | g.4932688C>G | CA397314235 | CHRNE,GP1BA | c.84C>G (p.His28Gln) c.-888+1654G>C (n.-888+1654G>C) | |
| 17 | g.4932688C>T | CA497677131 | CHRNE,GP1BA | c.84C>T (p.His28=) c.-888+1654G>A (n.-888+1654G>A) | dbSNP gnomAD v2 |
| 17 | g.4932689C>A | CA397314240 | CHRNE,GP1BA | c.85C>A (p.Leu29Ile) c.-888+1653G>T (n.-888+1653G>T) | |
| 17 | g.4932689C>G | CA397314241 | CHRNE,GP1BA | c.85C>G (p.Leu29Val) c.-888+1653G>C (n.-888+1653G>C) | |
| 17 | g.4932689C>T | CA497677134 | CHRNE,GP1BA | c.85C>T (p.Leu29=) c.-888+1653G>A (n.-888+1653G>A) | |
| 17 | g.4932690T>A | CA397314243 | CHRNE,GP1BA | c.86T>A (p.Leu29Gln) c.-888+1652A>T (n.-888+1652A>T) | |
| 17 | g.4932690T>C | CA397314245 | CHRNE,GP1BA | c.86T>C (p.Leu29Pro) c.-888+1652A>G (n.-888+1652A>G) | |
| 17 | g.4932690T>G | CA397314248 | CHRNE,GP1BA | c.86T>G (p.Leu29Arg) c.-888+1652A>C (n.-888+1652A>C) | |
| 17 | g.4932691A>C | CA497677135 | CHRNE,GP1BA | c.87A>C (p.Leu29=) c.-888+1651T>G (n.-888+1651T>G) | |
| 17 | g.4932691A>G | CA497677136 | CHRNE,GP1BA | c.87A>G (p.Leu29=) c.-888+1651T>C (n.-888+1651T>C) | |
| 17 | g.4932691A>T | CA497677137 | CHRNE,GP1BA | c.87A>T (p.Leu29=) c.-888+1651T>A (n.-888+1651T>A) | |
| 17 | g.4932692G>A | CA397314266 | CHRNE,GP1BA | c.88G>A (p.Glu30Lys) c.-888+1650C>T (n.-888+1650C>T) | |
| 17 | g.4932692G>C | CA397314261 | CHRNE,GP1BA | c.88G>C (p.Glu30Gln) c.-888+1650C>G (n.-888+1650C>G) | COSMIC |
| 17 | g.4932692G>T | CA397314257 | CHRNE,GP1BA | c.88G>T (p.Glu30Ter) c.-888+1650C>A (n.-888+1650C>A) | |
| 17 | g.4932693A>C | CA397314271 | CHRNE,GP1BA | c.89A>C (p.Glu30Ala) c.-888+1649T>G (n.-888+1649T>G) | |
| 17 | g.4932693A>G | CA397314273 | CHRNE,GP1BA | c.89A>G (p.Glu30Gly) c.-888+1649T>C (n.-888+1649T>C) | |
| 17 | g.4932693A>T | CA397314275 | CHRNE,GP1BA | c.89A>T (p.Glu30Val) c.-888+1649T>A (n.-888+1649T>A) | |
| 17 | g.4932694A= | CA2244625258 | CHRNE,GP1BA | c.90A= (p.Glu30=) c.-888+1648T= (n.-888+1648T=) | |
| 17 | g.4932694A>C | CA397314280 | CHRNE,GP1BA | c.90A>C (p.Glu30Asp) c.-888+1648T>G (n.-888+1648T>G) | |
| 17 | g.4932694A>G | CA8314692 | CHRNE,GP1BA | c.90A>G (p.Glu30=) c.-888+1648T>C (n.-888+1648T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932694A>T | CA397314292 | CHRNE,GP1BA | c.90A>T (p.Glu30Asp) c.-888+1648T>A (n.-888+1648T>A) | |
| 17 | g.4932695G>A | CA397314297 | CHRNE,GP1BA | c.91G>A (p.Val31Met) c.-888+1647C>T (n.-888+1647C>T) | |
| 17 | g.4932695G>C | CA397314302 | CHRNE,GP1BA | c.91G>C (p.Val31Leu) c.-888+1647C>G (n.-888+1647C>G) | |
| 17 | g.4932695G>T | CA397314300 | CHRNE,GP1BA | c.91G>T (p.Val31Leu) c.-888+1647C>A (n.-888+1647C>A) | |
| 17 | g.4932696T>A | CA397314305 | CHRNE,GP1BA | c.92T>A (p.Val31Glu) c.-888+1646A>T (n.-888+1646A>T) | ClinVar |
| 17 | g.4932696T>C | CA8314693 | CHRNE,GP1BA | c.92T>C (p.Val31Ala) c.-888+1646A>G (n.-888+1646A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932696T>G | CA397314309 | CHRNE,GP1BA | c.92T>G (p.Val31Gly) c.-888+1646A>C (n.-888+1646A>C) | |
| 17 | g.4932696T= | CA2244625259 | CHRNE,GP1BA | c.92T= (p.Val31=) c.-888+1646A= (n.-888+1646A=) | |
| 17 | g.4932697G>A | CA497677144 | CHRNE,GP1BA | c.93G>A (p.Val31=) c.-888+1645C>T (n.-888+1645C>T) | gnomAD v4 |
| 17 | g.4932697G>C | CA497677142 | CHRNE,GP1BA | c.93G>C (p.Val31=) c.-888+1645C>G (n.-888+1645C>G) | |
| 17 | g.4932697G>T | CA497677143 | CHRNE,GP1BA | c.93G>T (p.Val31=) c.-888+1645C>A (n.-888+1645C>A) | |
| 17 | g.4932698A>C | CA397314311 | CHRNE,GP1BA | c.94A>C (p.Asn32His) c.-888+1644T>G (n.-888+1644T>G) | |
| 17 | g.4932698A>G | CA397314314 | CHRNE,GP1BA | c.94A>G (p.Asn32Asp) c.-888+1644T>C (n.-888+1644T>C) | |
| 17 | g.4932698A>T | CA397314318 | CHRNE,GP1BA | c.94A>T (p.Asn32Tyr) c.-888+1644T>A (n.-888+1644T>A) | |
| 17 | g.4932698_4932699insG | CA2580610936 | CHRNE,GP1BA | c.94_95insG (p.Asn32ArgfsTer3) c.-888+1643_-888+1644insC (n.-888+1643_-888+1644insC) | |
| 17 | g.4932699A>C | CA397314329 | CHRNE,GP1BA | c.95A>C (p.Asn32Thr) c.-888+1643T>G (n.-888+1643T>G) | |
| 17 | g.4932699A>G | CA397314325 | CHRNE,GP1BA | c.95A>G (p.Asn32Ser) c.-888+1643T>C (n.-888+1643T>C) | |
| 17 | g.4932699A>T | CA397314327 | CHRNE,GP1BA | c.95A>T (p.Asn32Ile) c.-888+1643T>A (n.-888+1643T>A) | |
| 17 | g.4932700C>A | CA397314332 | CHRNE,GP1BA | c.96C>A (p.Asn32Lys) c.-888+1642G>T (n.-888+1642G>T) | COSMIC |
| 17 | g.4932700C>G | CA397314334 | CHRNE,GP1BA | c.96C>G (p.Asn32Lys) c.-888+1642G>C (n.-888+1642G>C) | |
| 17 | g.4932700C>T | CA497677228 | CHRNE,GP1BA | c.96C>T (p.Asn32=) c.-888+1642G>A (n.-888+1642G>A) | |
| 17 | g.4932701T>A | CA397314338 | CHRNE,GP1BA | c.97T>A (p.Cys33Ser) c.-888+1641A>T (n.-888+1641A>T) | |
| 17 | g.4932701T>C | CA397314339 | CHRNE,GP1BA | c.97T>C (p.Cys33Arg) c.-888+1641A>G (n.-888+1641A>G) | ClinVar dbSNP |
| 17 | g.4932701T>G | CA397314340 | CHRNE,GP1BA | c.97T>G (p.Cys33Gly) c.-888+1641A>C (n.-888+1641A>C) | |
| 17 | g.4932701dup | CA2808297058 | CHRNE,GP1BA | c.97dup (p.Cys33LeufsTer2) c.-888+1641dup (n.-888+1641dup) | |
| 17 | g.4932702G>A | CA397314343 | CHRNE,GP1BA | c.98G>A (p.Cys33Tyr) c.-888+1640C>T (n.-888+1640C>T) | ClinVar dbSNP |
| 17 | g.4932702G>C | CA397314347 | CHRNE,GP1BA | c.98G>C (p.Cys33Ser) c.-888+1640C>G (n.-888+1640C>G) | ClinVar dbSNP |
| 17 | g.4932702G= | CA2244625260 | CHRNE,GP1BA | c.98G= (p.Cys33=) c.-888+1640C= (n.-888+1640C=) | |
| 17 | g.4932702G>T | CA397314344 | CHRNE,GP1BA | c.98G>T (p.Cys33Phe) c.-888+1640C>A (n.-888+1640C>A) | |
| 17 | g.4932703T>A | CA397314350 | CHRNE,GP1BA | c.99T>A (p.Cys33Ter) c.-888+1639A>T (n.-888+1639A>T) | |
| 17 | g.4932703T>C | CA497677229 | CHRNE,GP1BA | c.99T>C (p.Cys33=) c.-888+1639A>G (n.-888+1639A>G) | |
| 17 | g.4932703T>G | CA397314351 | CHRNE,GP1BA | c.99T>G (p.Cys33Trp) c.-888+1639A>C (n.-888+1639A>C) | |
| 17 | g.4932704G>A | CA287215655 | CHRNE,GP1BA | c.100G>A (p.Asp34Asn) c.-888+1638C>T (n.-888+1638C>T) | dbSNP |
| 17 | g.4932704G>C | CA397314352 | CHRNE,GP1BA | c.100G>C (p.Asp34His) c.-888+1638C>G (n.-888+1638C>G) | |
| 17 | g.4932704G= | CA2244625261 | CHRNE,GP1BA | c.100G= (p.Asp34=) c.-888+1638C= (n.-888+1638C=) | |
| 17 | g.4932704G>T | CA397314353 | CHRNE,GP1BA | c.100G>T (p.Asp34Tyr) c.-888+1638C>A (n.-888+1638C>A) | |
| 17 | g.4932705A>C | CA397314355 | CHRNE,GP1BA | c.101A>C (p.Asp34Ala) c.-888+1637T>G (n.-888+1637T>G) | |
| 17 | g.4932705A>G | CA397314357 | CHRNE,GP1BA | c.101A>G (p.Asp34Gly) c.-888+1637T>C (n.-888+1637T>C) | |
| 17 | g.4932705A>T | CA397314359 | CHRNE,GP1BA | c.101A>T (p.Asp34Val) c.-888+1637T>A (n.-888+1637T>A) | |
| 17 | g.4932706C>A | CA397314361 | CHRNE,GP1BA | c.102C>A (p.Asp34Glu) c.-888+1636G>T (n.-888+1636G>T) | gnomAD v4 |
| 17 | g.4932706C>G | CA397314366 | CHRNE,GP1BA | c.102C>G (p.Asp34Glu) c.-888+1636G>C (n.-888+1636G>C) | |
| 17 | g.4932706C>T | CA497677237 | CHRNE,GP1BA | c.102C>T (p.Asp34=) c.-888+1636G>A (n.-888+1636G>A) | |
| 17 | g.4932706_4932707delinsCA | CA2244625262 | CHRNE,GP1BA | c.102_103delinsCA (p.Asp34=) c.-888+1635_-888+1636delinsTG (n.-888+1635_-888+1636delinsTG) | |
| 17 | g.4932707A>C | CA397314370 | CHRNE,GP1BA | c.103A>C (p.Lys35Gln) c.-888+1635T>G (n.-888+1635T>G) | |
| 17 | g.4932707A>G | CA397314368 | CHRNE,GP1BA | c.103A>G (p.Lys35Glu) c.-888+1635T>C (n.-888+1635T>C) | |
| 17 | g.4932707A>T | CA397314369 | CHRNE,GP1BA | c.103A>T (p.Lys35Ter) c.-888+1635T>A (n.-888+1635T>A) | |
| 17 | g.4932707_4932708del | CA2808297059 | CHRNE,GP1BA | c.103_104del (p.Lys35GlufsTer21) c.-888+1634_-888+1635del (n.-888+1634_-888+1635del) | |
| 17 | g.4932708del | CA658798681 | CHRNE,GP1BA | c.104del (p.Lys35ArgfsTer4) c.-888+1635del (n.-888+1635del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932708A>C | CA397314371 | CHRNE,GP1BA | c.104A>C (p.Lys35Thr) c.-888+1634T>G (n.-888+1634T>G) | |
| 17 | g.4932708A>G | CA397314373 | CHRNE,GP1BA | c.104A>G (p.Lys35Arg) c.-888+1634T>C (n.-888+1634T>C) | gnomAD v4 |
| 17 | g.4932708A>T | CA397314372 | CHRNE,GP1BA | c.104A>T (p.Lys35Met) c.-888+1634T>A (n.-888+1634T>A) | |
| 17 | g.4932709G>A | CA8314694 | CHRNE,GP1BA | c.105G>A (p.Lys35=) c.-888+1633C>T (n.-888+1633C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4932709G>C | CA397314376 | CHRNE,GP1BA | c.105G>C (p.Lys35Asn) c.-888+1633C>G (n.-888+1633C>G) | |
| 17 | g.4932709G= | CA2244625263 | CHRNE,GP1BA | c.105G= (p.Lys35=) c.-888+1633C= (n.-888+1633C=) | |
| 17 | g.4932709G>T | CA397314375 | CHRNE,GP1BA | c.105G>T (p.Lys35Asn) c.-888+1633C>A (n.-888+1633C>A) | |
| 17 | g.4932710A= | CA2244625264 | CHRNE,GP1BA | c.106A= (p.Arg36=) c.-888+1632T= (n.-888+1632T=) | |
| 17 | g.4932710A>C | CA497677240 | CHRNE,GP1BA | c.106A>C (p.Arg36=) c.-888+1632T>G (n.-888+1632T>G) | |
| 17 | g.4932710A>G | CA8314695 | CHRNE,GP1BA | c.106A>G (p.Arg36Gly) c.-888+1632T>C (n.-888+1632T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932710A>T | CA397314380 | CHRNE,GP1BA | c.106A>T (p.Arg36Trp) c.-888+1632T>A (n.-888+1632T>A) | |
| 17 | g.4932711G>A | CA8314696 | CHRNE,GP1BA | c.107G>A (p.Arg36Lys) c.-888+1631C>T (n.-888+1631C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932711G>C | CA397314387 | CHRNE,GP1BA | c.107G>C (p.Arg36Thr) c.-888+1631C>G (n.-888+1631C>G) | |
| 17 | g.4932711G= | CA2244625265 | CHRNE,GP1BA | c.107G= (p.Arg36=) c.-888+1631C= (n.-888+1631C=) | |
| 17 | g.4932711G>T | CA397314389 | CHRNE,GP1BA | c.107G>T (p.Arg36Met) c.-888+1631C>A (n.-888+1631C>A) | |
| 17 | g.4932712G>A | CA497677244 | CHRNE,GP1BA | c.108G>A (p.Arg36=) c.-888+1630C>T (n.-888+1630C>T) | COSMIC |
| 17 | g.4932712G>C | CA397314393 | CHRNE,GP1BA | c.108G>C (p.Arg36Ser) c.-888+1630C>G (n.-888+1630C>G) | |
| 17 | g.4932712G>T | CA397314398 | CHRNE,GP1BA | c.108G>T (p.Arg36Ser) c.-888+1630C>A (n.-888+1630C>A) | |
| 17 | g.4932713A>C | CA397314400 | CHRNE,GP1BA | c.109A>C (p.Asn37His) c.-888+1629T>G (n.-888+1629T>G) | gnomAD v4 |
| 17 | g.4932713A>G | CA397314401 | CHRNE,GP1BA | c.109A>G (p.Asn37Asp) c.-888+1629T>C (n.-888+1629T>C) | |
| 17 | g.4932713A>T | CA397314403 | CHRNE,GP1BA | c.109A>T (p.Asn37Tyr) c.-888+1629T>A (n.-888+1629T>A) | |
| 17 | g.4932714A>C | CA397314407 | CHRNE,GP1BA | c.110A>C (p.Asn37Thr) c.-888+1628T>G (n.-888+1628T>G) | |
| 17 | g.4932714A>G | CA397314412 | CHRNE,GP1BA | c.110A>G (p.Asn37Ser) c.-888+1628T>C (n.-888+1628T>C) | gnomAD v4 |
| 17 | g.4932714A>T | CA397314410 | CHRNE,GP1BA | c.110A>T (p.Asn37Ile) c.-888+1628T>A (n.-888+1628T>A) | |
| 17 | g.4932715T>A | CA397314415 | CHRNE,GP1BA | c.111T>A (p.Asn37Lys) c.-888+1627A>T (n.-888+1627A>T) | |
| 17 | g.4932715T>C | CA497677247 | CHRNE,GP1BA | c.111T>C (p.Asn37=) c.-888+1627A>G (n.-888+1627A>G) | |
| 17 | g.4932715T>G | CA397314416 | CHRNE,GP1BA | c.111T>G (p.Asn37Lys) c.-888+1627A>C (n.-888+1627A>C) | |
| 17 | g.4932716C>A | CA397314418 | CHRNE,GP1BA | c.112C>A (p.Leu38Met) c.-888+1626G>T (n.-888+1626G>T) | |
| 17 | g.4932716C= | CA2244625266 | CHRNE,GP1BA | c.112C= (p.Leu38=) c.-888+1626G= (n.-888+1626G=) | |
| 17 | g.4932716C>G | CA8314698 | CHRNE,GP1BA | c.112C>G (p.Leu38Val) c.-888+1626G>C (n.-888+1626G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932716C>T | CA497677251 | CHRNE,GP1BA | c.112C>T (p.Leu38=) c.-888+1626G>A (n.-888+1626G>A) | |
| 17 | g.4932716_4932717delinsCT | CA2244625267 | CHRNE,GP1BA | c.112_113delinsCT (p.Leu38=) c.-888+1625_-888+1626delinsAG (n.-888+1625_-888+1626delinsAG) | |
| 17 | g.4932717del | CA8314697 | CHRNE,GP1BA | c.113del (p.Leu38ArgfsTer17) c.-888+1625del (n.-888+1625del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932717T>A | CA397314424 | CHRNE,GP1BA | c.113T>A (p.Leu38Gln) c.-888+1625A>T (n.-888+1625A>T) | |
| 17 | g.4932717T>C | CA397314434 | CHRNE,GP1BA | c.113T>C (p.Leu38Pro) c.-888+1625A>G (n.-888+1625A>G) | |
| 17 | g.4932717T>G | CA397314431 | CHRNE,GP1BA | c.113T>G (p.Leu38Arg) c.-888+1625A>C (n.-888+1625A>C) | |
| 17 | g.4932718G>A | CA8314699 | CHRNE,GP1BA | c.114G>A (p.Leu38=) c.-888+1624C>T (n.-888+1624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932718G>C | CA497677255 | CHRNE,GP1BA | c.114G>C (p.Leu38=) c.-888+1624C>G (n.-888+1624C>G) | |
| 17 | g.4932718G= | CA2244625268 | CHRNE,GP1BA | c.114G= (p.Leu38=) c.-888+1624C= (n.-888+1624C=) | |
| 17 | g.4932718G>T | CA497677256 | CHRNE,GP1BA | c.114G>T (p.Leu38=) c.-888+1624C>A (n.-888+1624C>A) | |
| 17 | g.4932719A>C | CA397314441 | CHRNE,GP1BA | c.115A>C (p.Thr39Pro) c.-888+1623T>G (n.-888+1623T>G) | |
| 17 | g.4932719A>G | CA397314445 | CHRNE,GP1BA | c.115A>G (p.Thr39Ala) c.-888+1623T>C (n.-888+1623T>C) | |
| 17 | g.4932719A>T | CA397314449 | CHRNE,GP1BA | c.115A>T (p.Thr39Ser) c.-888+1623T>A (n.-888+1623T>A) | |
| 17 | g.4932720C>A | CA397314451 | CHRNE,GP1BA | c.116C>A (p.Thr39Lys) c.-888+1622G>T (n.-888+1622G>T) | |
| 17 | g.4932720C= | CA2244625269 | CHRNE,GP1BA | c.116C= (p.Thr39=) c.-888+1622G= (n.-888+1622G=) | |
| 17 | g.4932720C>G | CA8314700 | CHRNE,GP1BA | c.116C>G (p.Thr39Arg) c.-888+1622G>C (n.-888+1622G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.4932720C>T | CA397314454 | CHRNE,GP1BA | c.116C>T (p.Thr39Ile) c.-888+1622G>A (n.-888+1622G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932721A= | CA2244625270 | CHRNE,GP1BA | c.117A= (p.Thr39=) c.-888+1621T= (n.-888+1621T=) | |
| 17 | g.4932721A>C | CA497677261 | CHRNE,GP1BA | c.117A>C (p.Thr39=) c.-888+1621T>G (n.-888+1621T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932721A>G | CA497677262 | CHRNE,GP1BA | c.117A>G (p.Thr39=) c.-888+1621T>C (n.-888+1621T>C) | |
| 17 | g.4932721A>T | CA497677263 | CHRNE,GP1BA | c.117A>T (p.Thr39=) c.-888+1621T>A (n.-888+1621T>A) | |
| 17 | g.4932722G>A | CA397314456 | CHRNE,GP1BA | c.118G>A (p.Ala40Thr) c.-888+1620C>T (n.-888+1620C>T) | |
| 17 | g.4932722G>C | CA397314459 | CHRNE,GP1BA | c.118G>C (p.Ala40Pro) c.-888+1620C>G (n.-888+1620C>G) | |
| 17 | g.4932722G>T | CA397314462 | CHRNE,GP1BA | c.118G>T (p.Ala40Ser) c.-888+1620C>A (n.-888+1620C>A) | |
| 17 | g.4932723C>A | CA397314473 | CHRNE,GP1BA | c.119C>A (p.Ala40Glu) c.-888+1619G>T (n.-888+1619G>T) | dbSNP |
| 17 | g.4932723C= | CA2244625271 | CHRNE,GP1BA | c.119C= (p.Ala40=) c.-888+1619G= (n.-888+1619G=) | |
| 17 | g.4932723C>G | CA397314466 | CHRNE,GP1BA | c.119C>G (p.Ala40Gly) c.-888+1619G>C (n.-888+1619G>C) | |
| 17 | g.4932723C>T | CA397314468 | CHRNE,GP1BA | c.119C>T (p.Ala40Val) c.-888+1619G>A (n.-888+1619G>A) | gnomAD v4 |
| 17 | g.4932724G>A | CA8314701 | CHRNE,GP1BA | c.120G>A (p.Ala40=) c.-888+1618C>T (n.-888+1618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932724G>C | CA497677268 | CHRNE,GP1BA | c.120G>C (p.Ala40=) c.-888+1618C>G (n.-888+1618C>G) | |
| 17 | g.4932724G= | CA2244625272 | CHRNE,GP1BA | c.120G= (p.Ala40=) c.-888+1618C= (n.-888+1618C=) | |
| 17 | g.4932724G>T | CA497677269 | CHRNE,GP1BA | c.120G>T (p.Ala40=) c.-888+1618C>A (n.-888+1618C>A) | |
| 17 | g.4932725C>A | CA397314476 | CHRNE,GP1BA | c.121C>A (p.Leu41Met) c.-888+1617G>T (n.-888+1617G>T) | |
| 17 | g.4932725C>G | CA397314478 | CHRNE,GP1BA | c.121C>G (p.Leu41Val) c.-888+1617G>C (n.-888+1617G>C) | |
| 17 | g.4932725C>T | CA497677271 | CHRNE,GP1BA | c.121C>T (p.Leu41=) c.-888+1617G>A (n.-888+1617G>A) | gnomAD v4 |
| 17 | g.4932726T>A | CA397314482 | CHRNE,GP1BA | c.122T>A (p.Leu41Gln) c.-888+1616A>T (n.-888+1616A>T) | |
| 17 | g.4932726T>C | CA397314484 | CHRNE,GP1BA | c.122T>C (p.Leu41Pro) c.-888+1616A>G (n.-888+1616A>G) | |
| 17 | g.4932726T>G | CA397314487 | CHRNE,GP1BA | c.122T>G (p.Leu41Arg) c.-888+1616A>C (n.-888+1616A>C) | |
| 17 | g.4932727G>A | CA497677274 | CHRNE,GP1BA | c.123G>A (p.Leu41=) c.-888+1615C>T (n.-888+1615C>T) | |
| 17 | g.4932727G>C | CA497677276 | CHRNE,GP1BA | c.123G>C (p.Leu41=) c.-888+1615C>G (n.-888+1615C>G) | gnomAD v4 |
| 17 | g.4932727G>T | CA497677277 | CHRNE,GP1BA | c.123G>T (p.Leu41=) c.-888+1615C>A (n.-888+1615C>A) | |
| 17 | g.4932728C>A | CA397314491 | CHRNE,GP1BA | c.124C>A (p.Pro42Thr) c.-888+1614G>T (n.-888+1614G>T) | dbSNP |
| 17 | g.4932728C= | CA2244625273 | CHRNE,GP1BA | c.124C= (p.Pro42=) c.-888+1614G= (n.-888+1614G=) | |
| 17 | g.4932728C>G | CA397314496 | CHRNE,GP1BA | c.124C>G (p.Pro42Ala) c.-888+1614G>C (n.-888+1614G>C) | |
| 17 | g.4932728C>T | CA397314498 | CHRNE,GP1BA | c.124C>T (p.Pro42Ser) c.-888+1614G>A (n.-888+1614G>A) | gnomAD v4 |
| 17 | g.4932729C>A | CA397314501 | CHRNE,GP1BA | c.125C>A (p.Pro42His) c.-888+1613G>T (n.-888+1613G>T) | |
| 17 | g.4932729C>G | CA397314504 | CHRNE,GP1BA | c.125C>G (p.Pro42Arg) c.-888+1613G>C (n.-888+1613G>C) | |
| 17 | g.4932729C>T | CA397314506 | CHRNE,GP1BA | c.125C>T (p.Pro42Leu) c.-888+1613G>A (n.-888+1613G>A) | |
| 17 | g.4932730T>A | CA497677278 | CHRNE,GP1BA | c.126T>A (p.Pro42=) c.-888+1612A>T (n.-888+1612A>T) | |
| 17 | g.4932730T>C | CA497677279 | CHRNE,GP1BA | c.126T>C (p.Pro42=) c.-888+1612A>G (n.-888+1612A>G) | |
| 17 | g.4932730T>G | CA497677281 | CHRNE,GP1BA | c.126T>G (p.Pro42=) c.-888+1612A>C (n.-888+1612A>C) | |
| 17 | g.4932731C>A | CA397314516 | CHRNE,GP1BA | c.127C>A (p.Pro43Thr) c.-888+1611G>T (n.-888+1611G>T) | |
| 17 | g.4932731C>G | CA397314515 | CHRNE,GP1BA | c.127C>G (p.Pro43Ala) c.-888+1611G>C (n.-888+1611G>C) | |
| 17 | g.4932731C>T | CA397314513 | CHRNE,GP1BA | c.127C>T (p.Pro43Ser) c.-888+1611G>A (n.-888+1611G>A) | |
| 17 | g.4932732del | CA2576136021 | CHRNE,GP1BA | c.128del (p.Pro43GlnfsTer12) c.-888+1611del (n.-888+1611del) | gnomAD v4 |
| 17 | g.4932732C>A | CA397314519 | CHRNE,GP1BA | c.128C>A (p.Pro43Gln) c.-888+1610G>T (n.-888+1610G>T) | |
| 17 | g.4932732C>G | CA397314520 | CHRNE,GP1BA | c.128C>G (p.Pro43Arg) c.-888+1610G>C (n.-888+1610G>C) | |
| 17 | g.4932732C>T | CA397314524 | CHRNE,GP1BA | c.128C>T (p.Pro43Leu) c.-888+1610G>A (n.-888+1610G>A) |