Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4933400A= | CA2244625544 | CHRNE,GP1BA | c.796A= (p.Asn266=) c.-888+942T= (n.-888+942T=) | |
17 | g.4933400A>C | CA397318687 | CHRNE,GP1BA | c.796A>C (p.Asn266His) c.-888+942T>G (n.-888+942T>G) | |
17 | g.4933400A>G | CA397318689 | CHRNE,GP1BA | c.796A>G (p.Asn266Asp) c.-888+942T>C (n.-888+942T>C) | |
17 | g.4933400A>T | CA8314834 | CHRNE,GP1BA | c.796A>T (p.Asn266Tyr) c.-888+942T>A (n.-888+942T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933401A= | CA2244625545 | CHRNE,GP1BA | c.797A= (p.Asn266=) c.-888+941T= (n.-888+941T=) | |
17 | g.4933401A>C | CA397318694 | CHRNE,GP1BA | c.797A>C (p.Asn266Thr) c.-888+941T>G (n.-888+941T>G) | |
17 | g.4933401A>G | CA8314835 | CHRNE,GP1BA | c.797A>G (p.Asn266Ser) c.-888+941T>C (n.-888+941T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933401A>T | CA397318692 | CHRNE,GP1BA | c.797A>T (p.Asn266Ile) c.-888+941T>A (n.-888+941T>A) | dbSNP |
17 | g.4933402T>A | CA397318696 | CHRNE,GP1BA | c.798T>A (p.Asn266Lys) c.-888+940A>T (n.-888+940A>T) | |
17 | g.4933402T>C | CA497677518 | CHRNE,GP1BA | c.798T>C (p.Asn266=) c.-888+940A>G (n.-888+940A>G) | |
17 | g.4933402T>G | CA397318698 | CHRNE,GP1BA | c.798T>G (p.Asn266Lys) c.-888+940A>C (n.-888+940A>C) | |
17 | g.4933403T>A | CA397318702 | CHRNE,GP1BA | c.799T>A (p.Ser267Thr) c.-888+939A>T (n.-888+939A>T) | |
17 | g.4933403T>C | CA397318704 | CHRNE,GP1BA | c.799T>C (p.Ser267Pro) c.-888+939A>G (n.-888+939A>G) | |
17 | g.4933403T>G | CA397318706 | CHRNE,GP1BA | c.799T>G (p.Ser267Ala) c.-888+939A>C (n.-888+939A>C) | |
17 | g.4933404C>A | CA397318709 | CHRNE,GP1BA | c.800C>A (p.Ser267Ter) c.-888+938G>T (n.-888+938G>T) | |
17 | g.4933404C>G | CA397318711 | CHRNE,GP1BA | c.800C>G (p.Ser267Ter) c.-888+938G>C (n.-888+938G>C) | |
17 | g.4933404C>T | CA397318713 | CHRNE,GP1BA | c.800C>T (p.Ser267Leu) c.-888+938G>A (n.-888+938G>A) | COSMIC |
17 | g.4933405A>C | CA497677523 | CHRNE,GP1BA | c.801A>C (p.Ser267=) c.-888+937T>G (n.-888+937T>G) | gnomAD v4 |
17 | g.4933405A>G | CA497677526 | CHRNE,GP1BA | c.801A>G (p.Ser267=) c.-888+937T>C (n.-888+937T>C) | |
17 | g.4933405A>T | CA497677524 | CHRNE,GP1BA | c.801A>T (p.Ser267=) c.-888+937T>A (n.-888+937T>A) | |
17 | g.4933406G>A | CA8314836 | CHRNE,GP1BA | c.802G>A (p.Asp268Asn) c.-888+936C>T (n.-888+936C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933406G>C | CA8314837 | CHRNE,GP1BA | c.802G>C (p.Asp268His) c.-888+936C>G (n.-888+936C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933406G= | CA2244625546 | CHRNE,GP1BA | c.802G= (p.Asp268=) c.-888+936C= (n.-888+936C=) | |
17 | g.4933406G>T | CA397318718 | CHRNE,GP1BA | c.802G>T (p.Asp268Tyr) c.-888+936C>A (n.-888+936C>A) | |
17 | g.4933407A>C | CA397318721 | CHRNE,GP1BA | c.803A>C (p.Asp268Ala) c.-888+935T>G (n.-888+935T>G) | |
17 | g.4933407A>G | CA397318724 | CHRNE,GP1BA | c.803A>G (p.Asp268Gly) c.-888+935T>C (n.-888+935T>C) | |
17 | g.4933407A>T | CA397318725 | CHRNE,GP1BA | c.803A>T (p.Asp268Val) c.-888+935T>A (n.-888+935T>A) | |
17 | g.4933408C>A | CA397318728 | CHRNE,GP1BA | c.804C>A (p.Asp268Glu) c.-888+934G>T (n.-888+934G>T) | gnomAD v4 |
17 | g.4933408C>G | CA397318729 | CHRNE,GP1BA | c.804C>G (p.Asp268Glu) c.-888+934G>C (n.-888+934G>C) | |
17 | g.4933408C>T | CA497677533 | CHRNE,GP1BA | c.804C>T (p.Asp268=) c.-888+934G>A (n.-888+934G>A) | |
17 | g.4933409A>C | CA397318732 | CHRNE,GP1BA | c.805A>C (p.Lys269Gln) c.-888+933T>G (n.-888+933T>G) | |
17 | g.4933409A>G | CA397318734 | CHRNE,GP1BA | c.805A>G (p.Lys269Glu) c.-888+933T>C (n.-888+933T>C) | |
17 | g.4933409A>T | CA397318736 | CHRNE,GP1BA | c.805A>T (p.Lys269Ter) c.-888+933T>A (n.-888+933T>A) | |
17 | g.4933410A= | CA2244625547 | CHRNE,GP1BA | c.806A= (p.Lys269=) c.-888+932T= (n.-888+932T=) | |
17 | g.4933410A>C | CA397318739 | CHRNE,GP1BA | c.806A>C (p.Lys269Thr) c.-888+932T>G (n.-888+932T>G) | |
17 | g.4933410A>G | CA8314838 | CHRNE,GP1BA | c.806A>G (p.Lys269Arg) c.-888+932T>C (n.-888+932T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933410A>T | CA397318741 | CHRNE,GP1BA | c.806A>T (p.Lys269Met) c.-888+932T>A (n.-888+932T>A) | |
17 | g.4933411G>A | CA497677537 | CHRNE,GP1BA | c.807G>A (p.Lys269=) c.-888+931C>T (n.-888+931C>T) | |
17 | g.4933411G>C | CA397318743 | CHRNE,GP1BA | c.807G>C (p.Lys269Asn) c.-888+931C>G (n.-888+931C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933411G= | CA2244625548 | CHRNE,GP1BA | c.807G= (p.Lys269=) c.-888+931C= (n.-888+931C=) | |
17 | g.4933411G>T | CA397318744 | CHRNE,GP1BA | c.807G>T (p.Lys269Asn) c.-888+931C>A (n.-888+931C>A) | |
17 | g.4933412T>A | CA8314839 | CHRNE,GP1BA | c.808T>A (p.Phe270Ile) c.-888+930A>T (n.-888+930A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933412T>C | CA8314840 | CHRNE,GP1BA | c.808T>C (p.Phe270Leu) c.-888+930A>G (n.-888+930A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933412T>G | CA397318750 | CHRNE,GP1BA | c.808T>G (p.Phe270Val) c.-888+930A>C (n.-888+930A>C) | |
17 | g.4933412T= | CA2244625549 | CHRNE,GP1BA | c.808T= (p.Phe270=) c.-888+930A= (n.-888+930A=) | |
17 | g.4933413T>A | CA397318757 | CHRNE,GP1BA | c.809T>A (p.Phe270Tyr) c.-888+929A>T (n.-888+929A>T) | |
17 | g.4933413T>C | CA397318758 | CHRNE,GP1BA | c.809T>C (p.Phe270Ser) c.-888+929A>G (n.-888+929A>G) | |
17 | g.4933413T>G | CA397318754 | CHRNE,GP1BA | c.809T>G (p.Phe270Cys) c.-888+929A>C (n.-888+929A>C) | |
17 | g.4933414T>A | CA397318760 | CHRNE,GP1BA | c.810T>A (p.Phe270Leu) c.-888+928A>T (n.-888+928A>T) | |
17 | g.4933414T>C | CA497677542 | CHRNE,GP1BA | c.810T>C (p.Phe270=) c.-888+928A>G (n.-888+928A>G) | |
17 | g.4933414T>G | CA397318763 | CHRNE,GP1BA | c.810T>G (p.Phe270Leu) c.-888+928A>C (n.-888+928A>C) | |
17 | g.4933415C>A | CA397318771 | CHRNE,GP1BA | c.811C>A (p.Pro271Thr) c.-888+927G>T (n.-888+927G>T) | |
17 | g.4933415C>G | CA397318773 | CHRNE,GP1BA | c.811C>G (p.Pro271Ala) c.-888+927G>C (n.-888+927G>C) | gnomAD v4 |
17 | g.4933415C>T | CA397318776 | CHRNE,GP1BA | c.811C>T (p.Pro271Ser) c.-888+927G>A (n.-888+927G>A) | |
17 | g.4933416C>A | CA397318779 | CHRNE,GP1BA | c.812C>A (p.Pro271His) c.-888+926G>T (n.-888+926G>T) | |
17 | g.4933416C>G | CA397318780 | CHRNE,GP1BA | c.812C>G (p.Pro271Arg) c.-888+926G>C (n.-888+926G>C) | |
17 | g.4933416C>T | CA397318783 | CHRNE,GP1BA | c.812C>T (p.Pro271Leu) c.-888+926G>A (n.-888+926G>A) | |
17 | g.4933417C>A | CA497677548 | CHRNE,GP1BA | c.813C>A (p.Pro271=) c.-888+925G>T (n.-888+925G>T) | |
17 | g.4933417C= | CA2244625550 | CHRNE,GP1BA | c.813C= (p.Pro271=) c.-888+925G= (n.-888+925G=) | |
17 | g.4933417C>G | CA497677549 | CHRNE,GP1BA | c.813C>G (p.Pro271=) c.-888+925G>C (n.-888+925G>C) | |
17 | g.4933417C>T | CA8314841 | CHRNE,GP1BA | c.813C>T (p.Pro271=) c.-888+925G>A (n.-888+925G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933418G>A | CA8314842 | CHRNE,GP1BA | c.814G>A (p.Val272Ile) c.-888+924C>T (n.-888+924C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933418G>C | CA397318790 | CHRNE,GP1BA | c.814G>C (p.Val272Leu) c.-888+924C>G (n.-888+924C>G) | |
17 | g.4933418G= | CA2244625551 | CHRNE,GP1BA | c.814G= (p.Val272=) c.-888+924C= (n.-888+924C=) | |
17 | g.4933418G>T | CA397318792 | CHRNE,GP1BA | c.814G>T (p.Val272Phe) c.-888+924C>A (n.-888+924C>A) | |
17 | g.4933419T>A | CA397318797 | CHRNE,GP1BA | c.815T>A (p.Val272Asp) c.-888+923A>T (n.-888+923A>T) | |
17 | g.4933419T>C | CA397318800 | CHRNE,GP1BA | c.815T>C (p.Val272Ala) c.-888+923A>G (n.-888+923A>G) | gnomAD v4 |
17 | g.4933419T>G | CA397318795 | CHRNE,GP1BA | c.815T>G (p.Val272Gly) c.-888+923A>C (n.-888+923A>C) | |
17 | g.4933420C>A | CA497677555 | CHRNE,GP1BA | c.816C>A (p.Val272=) c.-888+922G>T (n.-888+922G>T) | |
17 | g.4933420C>G | CA497677552 | CHRNE,GP1BA | c.816C>G (p.Val272=) c.-888+922G>C (n.-888+922G>C) | |
17 | g.4933420C>T | CA497677553 | CHRNE,GP1BA | c.816C>T (p.Val272=) c.-888+922G>A (n.-888+922G>A) | |
17 | g.4933421T>A | CA397318803 | CHRNE,GP1BA | c.817T>A (p.Tyr273Asn) c.-888+921A>T (n.-888+921A>T) | |
17 | g.4933421T>C | CA397318804 | CHRNE,GP1BA | c.817T>C (p.Tyr273His) c.-888+921A>G (n.-888+921A>G) | |
17 | g.4933421T>G | CA397318806 | CHRNE,GP1BA | c.817T>G (p.Tyr273Asp) c.-888+921A>C (n.-888+921A>C) | |
17 | g.4933422A>C | CA397318809 | CHRNE,GP1BA | c.818A>C (p.Tyr273Ser) c.-888+920T>G (n.-888+920T>G) | |
17 | g.4933422A>G | CA397318811 | CHRNE,GP1BA | c.818A>G (p.Tyr273Cys) c.-888+920T>C (n.-888+920T>C) | |
17 | g.4933422A>T | CA397318814 | CHRNE,GP1BA | c.818A>T (p.Tyr273Phe) c.-888+920T>A (n.-888+920T>A) | |
17 | g.4933423C>A | CA397318817 | CHRNE,GP1BA | c.819C>A (p.Tyr273Ter) c.-888+919G>T (n.-888+919G>T) | |
17 | g.4933423C= | CA2244625552 | CHRNE,GP1BA | c.819C= (p.Tyr273=) c.-888+919G= (n.-888+919G=) | |
17 | g.4933423C>G | CA397318818 | CHRNE,GP1BA | c.819C>G (p.Tyr273Ter) c.-888+919G>C (n.-888+919G>C) | |
17 | g.4933423C>T | CA497677559 | CHRNE,GP1BA | c.819C>T (p.Tyr273=) c.-888+919G>A (n.-888+919G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933424A>C | CA397318820 | CHRNE,GP1BA | c.820A>C (p.Lys274Gln) c.-888+918T>G (n.-888+918T>G) | |
17 | g.4933424A>G | CA397318823 | CHRNE,GP1BA | c.820A>G (p.Lys274Glu) c.-888+918T>C (n.-888+918T>C) | dbSNP |
17 | g.4933424A>T | CA397318826 | CHRNE,GP1BA | c.820A>T (p.Lys274Ter) c.-888+918T>A (n.-888+918T>A) | |
17 | g.4933426del | CA2635578885 | CHRNE,GP1BA | c.822del (p.Lys274AsnfsTer?) c.-888+918del (n.-888+918del) | gnomAD v4 |
17 | g.4933425A>C | CA397318833 | CHRNE,GP1BA | c.821A>C (p.Lys274Thr) c.-888+917T>G (n.-888+917T>G) | |
17 | g.4933425A>G | CA397318836 | CHRNE,GP1BA | c.821A>G (p.Lys274Arg) c.-888+917T>C (n.-888+917T>C) | |
17 | g.4933425A>T | CA397318838 | CHRNE,GP1BA | c.821A>T (p.Lys274Ile) c.-888+917T>A (n.-888+917T>A) | |
17 | g.4933426A>C | CA397318843 | CHRNE,GP1BA | c.822A>C (p.Lys274Asn) c.-888+916T>G (n.-888+916T>G) | |
17 | g.4933426A>G | CA497677567 | CHRNE,GP1BA | c.822A>G (p.Lys274=) c.-888+916T>C (n.-888+916T>C) | |
17 | g.4933426A>T | CA397318841 | CHRNE,GP1BA | c.822A>T (p.Lys274Asn) c.-888+916T>A (n.-888+916T>A) | |
17 | g.4933427T>A | CA397318846 | CHRNE,GP1BA | c.823T>A (p.Tyr275Asn) c.-888+915A>T (n.-888+915A>T) | |
17 | g.4933427T>C | CA397318851 | CHRNE,GP1BA | c.823T>C (p.Tyr275His) c.-888+915A>G (n.-888+915A>G) | gnomAD v4 |
17 | g.4933427T>G | CA397318848 | CHRNE,GP1BA | c.823T>G (p.Tyr275Asp) c.-888+915A>C (n.-888+915A>C) | |
17 | g.4933428A>C | CA397318854 | CHRNE,GP1BA | c.824A>C (p.Tyr275Ser) c.-888+914T>G (n.-888+914T>G) | |
17 | g.4933428A>G | CA397318856 | CHRNE,GP1BA | c.824A>G (p.Tyr275Cys) c.-888+914T>C (n.-888+914T>C) | |
17 | g.4933428A>T | CA397318858 | CHRNE,GP1BA | c.824A>T (p.Tyr275Phe) c.-888+914T>A (n.-888+914T>A) | |
17 | g.4933429C>A | CA397318861 | CHRNE,GP1BA | c.825C>A (p.Tyr275Ter) c.-888+913G>T (n.-888+913G>T) | |
17 | g.4933429C>G | CA397318864 | CHRNE,GP1BA | c.825C>G (p.Tyr275Ter) c.-888+913G>C (n.-888+913G>C) | |
17 | g.4933429C>T | CA497677569 | CHRNE,GP1BA | c.825C>T (p.Tyr275=) c.-888+913G>A (n.-888+913G>A) | |
17 | g.4933430C>A | CA397318866 | CHRNE,GP1BA | c.826C>A (p.Pro276Thr) c.-888+912G>T (n.-888+912G>T) | |
17 | g.4933430C= | CA2244625553 | CHRNE,GP1BA | c.826C= (p.Pro276=) c.-888+912G= (n.-888+912G=) | |
17 | g.4933430C>G | CA397318869 | CHRNE,GP1BA | c.826C>G (p.Pro276Ala) c.-888+912G>C (n.-888+912G>C) | |
17 | g.4933430C>T | CA397318873 | CHRNE,GP1BA | c.826C>T (p.Pro276Ser) c.-888+912G>A (n.-888+912G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933431C>A | CA397318876 | CHRNE,GP1BA | c.827C>A (p.Pro276Gln) c.-888+911G>T (n.-888+911G>T) | |
17 | g.4933431C>G | CA397318878 | CHRNE,GP1BA | c.827C>G (p.Pro276Arg) c.-888+911G>C (n.-888+911G>C) | |
17 | g.4933431C>T | CA397318879 | CHRNE,GP1BA | c.827C>T (p.Pro276Leu) c.-888+911G>A (n.-888+911G>A) | |
17 | g.4933432A>C | CA497677576 | CHRNE,GP1BA | c.828A>C (p.Pro276=) c.-888+910T>G (n.-888+910T>G) | |
17 | g.4933432A>G | CA497677578 | CHRNE,GP1BA | c.828A>G (p.Pro276=) c.-888+910T>C (n.-888+910T>C) | |
17 | g.4933432A>T | CA497677579 | CHRNE,GP1BA | c.828A>T (p.Pro276=) c.-888+910T>A (n.-888+910T>A) | |
17 | g.4933433G>A | CA8314843 | CHRNE,GP1BA | c.829G>A (p.Gly277Arg) c.-888+909C>T (n.-888+909C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933433G>C | CA397318885 | CHRNE,GP1BA | c.829G>C (p.Gly277Arg) c.-888+909C>G (n.-888+909C>G) | |
17 | g.4933433G= | CA2244625554 | CHRNE,GP1BA | c.829G= (p.Gly277=) c.-888+909C= (n.-888+909C=) | |
17 | g.4933433G>T | CA397318882 | CHRNE,GP1BA | c.829G>T (p.Gly277Ter) c.-888+909C>A (n.-888+909C>A) | |
17 | g.4933434G>A | CA397318889 | CHRNE,GP1BA | c.830G>A (p.Gly277Glu) c.-888+908C>T (n.-888+908C>T) | |
17 | g.4933434G>C | CA397318891 | CHRNE,GP1BA | c.830G>C (p.Gly277Ala) c.-888+908C>G (n.-888+908C>G) | |
17 | g.4933434G>T | CA397318894 | CHRNE,GP1BA | c.830G>T (p.Gly277Val) c.-888+908C>A (n.-888+908C>A) | |
17 | g.4933435A>C | CA497677580 | CHRNE,GP1BA | c.831A>C (p.Gly277=) c.-888+907T>G (n.-888+907T>G) | |
17 | g.4933435A>G | CA497677581 | CHRNE,GP1BA | c.831A>G (p.Gly277=) c.-888+907T>C (n.-888+907T>C) | |
17 | g.4933435A>T | CA497677585 | CHRNE,GP1BA | c.831A>T (p.Gly277=) c.-888+907T>A (n.-888+907T>A) | |
17 | g.4933436A>C | CA397318897 | CHRNE,GP1BA | c.832A>C (p.Lys278Gln) c.-888+906T>G (n.-888+906T>G) | |
17 | g.4933436A>G | CA397318898 | CHRNE,GP1BA | c.832A>G (p.Lys278Glu) c.-888+906T>C (n.-888+906T>C) | |
17 | g.4933436A>T | CA397318900 | CHRNE,GP1BA | c.832A>T (p.Lys278Ter) c.-888+906T>A (n.-888+906T>A) | |
17 | g.4933437A= | CA2244625555 | CHRNE,GP1BA | c.833A= (p.Lys278=) c.-888+905T= (n.-888+905T=) | |
17 | g.4933437A>C | CA397318904 | CHRNE,GP1BA | c.833A>C (p.Lys278Thr) c.-888+905T>G (n.-888+905T>G) | |
17 | g.4933437A>G | CA287216638 | CHRNE,GP1BA | c.833A>G (p.Lys278Arg) c.-888+905T>C (n.-888+905T>C) | dbSNP gnomAD v4 |
17 | g.4933437A>T | CA397318909 | CHRNE,GP1BA | c.833A>T (p.Lys278Met) c.-888+905T>A (n.-888+905T>A) | |
17 | g.4933438G>A | CA8314844 | CHRNE,GP1BA | c.834G>A (p.Lys278=) c.-888+904C>T (n.-888+904C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933438G>C | CA397318913 | CHRNE,GP1BA | c.834G>C (p.Lys278Asn) c.-888+904C>G (n.-888+904C>G) | |
17 | g.4933438G= | CA2244625556 | CHRNE,GP1BA | c.834G= (p.Lys278=) c.-888+904C= (n.-888+904C=) | |
17 | g.4933438G>T | CA397318914 | CHRNE,GP1BA | c.834G>T (p.Lys278Asn) c.-888+904C>A (n.-888+904C>A) | |
17 | g.4933439G>A | CA397318920 | CHRNE,GP1BA | c.835G>A (p.Gly279Arg) c.-888+903C>T (n.-888+903C>T) | |
17 | g.4933439G>C | CA397318919 | CHRNE,GP1BA | c.835G>C (p.Gly279Arg) c.-888+903C>G (n.-888+903C>G) | |
17 | g.4933439G>T | CA397318917 | CHRNE,GP1BA | c.835G>T (p.Gly279Trp) c.-888+903C>A (n.-888+903C>A) | |
17 | g.4933440G>A | CA397318926 | CHRNE,GP1BA | c.836G>A (p.Gly279Glu) c.-888+902C>T (n.-888+902C>T) | gnomAD v4 |
17 | g.4933440G>C | CA397318922 | CHRNE,GP1BA | c.836G>C (p.Gly279Ala) c.-888+902C>G (n.-888+902C>G) | |
17 | g.4933440G= | CA2244625557 | CHRNE,GP1BA | c.836G= (p.Gly279=) c.-888+902C= (n.-888+902C=) | |
17 | g.4933440G>T | CA397318925 | CHRNE,GP1BA | c.836G>T (p.Gly279Val) c.-888+902C>A (n.-888+902C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933441G>A | CA497677598 | CHRNE,GP1BA | c.837G>A (p.Gly279=) c.-888+901C>T (n.-888+901C>T) | gnomAD v4 |
17 | g.4933441G>C | CA497677596 | CHRNE,GP1BA | c.837G>C (p.Gly279=) c.-888+901C>G (n.-888+901C>G) | |
17 | g.4933441G>T | CA497677594 | CHRNE,GP1BA | c.837G>T (p.Gly279=) c.-888+901C>A (n.-888+901C>A) | |
17 | g.4933442T>A | CA397318928 | CHRNE,GP1BA | c.838T>A (p.Cys280Ser) c.-888+900A>T (n.-888+900A>T) | |
17 | g.4933442T>C | CA8314845 | CHRNE,GP1BA | c.838T>C (p.Cys280Arg) c.-888+900A>G (n.-888+900A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933442T>G | CA397318930 | CHRNE,GP1BA | c.838T>G (p.Cys280Gly) c.-888+900A>C (n.-888+900A>C) | |
17 | g.4933442T= | CA2244625558 | CHRNE,GP1BA | c.838T= (p.Cys280=) c.-888+900A= (n.-888+900A=) | |
17 | g.4933443G>A | CA397318933 | CHRNE,GP1BA | c.839G>A (p.Cys280Tyr) c.-888+899C>T (n.-888+899C>T) | |
17 | g.4933443G>C | CA397318935 | CHRNE,GP1BA | c.839G>C (p.Cys280Ser) c.-888+899C>G (n.-888+899C>G) | |
17 | g.4933443G>T | CA397318938 | CHRNE,GP1BA | c.839G>T (p.Cys280Phe) c.-888+899C>A (n.-888+899C>A) | |
17 | g.4933444C>A | CA397318941 | CHRNE,GP1BA | c.840C>A (p.Cys280Ter) c.-888+898G>T (n.-888+898G>T) | |
17 | g.4933444C>G | CA397318943 | CHRNE,GP1BA | c.840C>G (p.Cys280Trp) c.-888+898G>C (n.-888+898G>C) | |
17 | g.4933444C>T | CA497677604 | CHRNE,GP1BA | c.840C>T (p.Cys280=) c.-888+898G>A (n.-888+898G>A) | gnomAD v4 |
17 | g.4933445C>A | CA397318949 | CHRNE,GP1BA | c.841C>A (p.Pro281Thr) c.-888+897G>T (n.-888+897G>T) | |
17 | g.4933445C= | CA2244625559 | CHRNE,GP1BA | c.841C= (p.Pro281=) c.-888+897G= (n.-888+897G=) | |
17 | g.4933445C>G | CA397318950 | CHRNE,GP1BA | c.841C>G (p.Pro281Ala) c.-888+897G>C (n.-888+897G>C) | |
17 | g.4933445C>T | CA397318951 | CHRNE,GP1BA | c.841C>T (p.Pro281Ser) c.-888+897G>A (n.-888+897G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933446C>A | CA397318956 | CHRNE,GP1BA | c.842C>A (p.Pro281His) c.-888+896G>T (n.-888+896G>T) | |
17 | g.4933446C>G | CA397318953 | CHRNE,GP1BA | c.842C>G (p.Pro281Arg) c.-888+896G>C (n.-888+896G>C) | |
17 | g.4933446C>T | CA397318955 | CHRNE,GP1BA | c.842C>T (p.Pro281Leu) c.-888+896G>A (n.-888+896G>A) | |
17 | g.4933447C>A | CA497677607 | CHRNE,GP1BA | c.843C>A (p.Pro281=) c.-888+895G>T (n.-888+895G>T) | |
17 | g.4933447C>G | CA497677609 | CHRNE,GP1BA | c.843C>G (p.Pro281=) c.-888+895G>C (n.-888+895G>C) | |
17 | g.4933447C>T | CA497677608 | CHRNE,GP1BA | c.843C>T (p.Pro281=) c.-888+895G>A (n.-888+895G>A) | |
17 | g.4933448A>C | CA397318958 | CHRNE,GP1BA | c.844A>C (p.Thr282Pro) c.-888+894T>G (n.-888+894T>G) | |
17 | g.4933448A>G | CA397318960 | CHRNE,GP1BA | c.844A>G (p.Thr282Ala) c.-888+894T>C (n.-888+894T>C) | |
17 | g.4933448A>T | CA397318961 | CHRNE,GP1BA | c.844A>T (p.Thr282Ser) c.-888+894T>A (n.-888+894T>A) | |
17 | g.4933449C>A | CA397318962 | CHRNE,GP1BA | c.845C>A (p.Thr282Asn) c.-888+893G>T (n.-888+893G>T) | |
17 | g.4933449C>G | CA397318963 | CHRNE,GP1BA | c.845C>G (p.Thr282Ser) c.-888+893G>C (n.-888+893G>C) | |
17 | g.4933449C>T | CA397318965 | CHRNE,GP1BA | c.845C>T (p.Thr282Ile) c.-888+893G>A (n.-888+893G>A) | |
17 | g.4933450C>A | CA497677613 | CHRNE,GP1BA | c.846C>A (p.Thr282=) c.-888+892G>T (n.-888+892G>T) | |
17 | g.4933450C= | CA2244625560 | CHRNE,GP1BA | c.846C= (p.Thr282=) c.-888+892G= (n.-888+892G=) | |
17 | g.4933450C>G | CA497677614 | CHRNE,GP1BA | c.846C>G (p.Thr282=) c.-888+892G>C (n.-888+892G>C) | |
17 | g.4933450C>T | CA497677615 | CHRNE,GP1BA | c.846C>T (p.Thr282=) c.-888+892G>A (n.-888+892G>A) | dbSNP |
17 | g.4933451C>A | CA397318966 | CHRNE,GP1BA | c.847C>A (p.Leu283Ile) c.-888+891G>T (n.-888+891G>T) | |
17 | g.4933451C>G | CA397318968 | CHRNE,GP1BA | c.847C>G (p.Leu283Val) c.-888+891G>C (n.-888+891G>C) | |
17 | g.4933451C>T | CA397318970 | CHRNE,GP1BA | c.847C>T (p.Leu283Phe) c.-888+891G>A (n.-888+891G>A) | gnomAD v4 |
17 | g.4933452T>A | CA397318971 | CHRNE,GP1BA | c.848T>A (p.Leu283His) c.-888+890A>T (n.-888+890A>T) | |
17 | g.4933452T>C | CA397318973 | CHRNE,GP1BA | c.848T>C (p.Leu283Pro) c.-888+890A>G (n.-888+890A>G) | |
17 | g.4933452T>G | CA397318974 | CHRNE,GP1BA | c.848T>G (p.Leu283Arg) c.-888+890A>C (n.-888+890A>C) | |
17 | g.4933453T>A | CA497677618 | CHRNE,GP1BA | c.849T>A (p.Leu283=) c.-888+889A>T (n.-888+889A>T) | |
17 | g.4933453T>C | CA287216647 | CHRNE,GP1BA | c.849T>C (p.Leu283=) c.-888+889A>G (n.-888+889A>G) | dbSNP |
17 | g.4933453T>G | CA497677619 | CHRNE,GP1BA | c.849T>G (p.Leu283=) c.-888+889A>C (n.-888+889A>C) | |
17 | g.4933453T= | CA2244625561 | CHRNE,GP1BA | c.849T= (p.Leu283=) c.-888+889A= (n.-888+889A=) | |
17 | g.4933454G>A | CA397318980 | CHRNE,GP1BA | c.850G>A (p.Gly284Ser) c.-888+888C>T (n.-888+888C>T) | |
17 | g.4933454G>C | CA397318982 | CHRNE,GP1BA | c.850G>C (p.Gly284Arg) c.-888+888C>G (n.-888+888C>G) | |
17 | g.4933454G>T | CA397318979 | CHRNE,GP1BA | c.850G>T (p.Gly284Cys) c.-888+888C>A (n.-888+888C>A) | |
17 | g.4933455G>A | CA397318983 | CHRNE,GP1BA | c.851G>A (p.Gly284Asp) c.-888+887C>T (n.-888+887C>T) | |
17 | g.4933455G>C | CA397318986 | CHRNE,GP1BA | c.851G>C (p.Gly284Ala) c.-888+887C>G (n.-888+887C>G) | |
17 | g.4933455G>T | CA397318985 | CHRNE,GP1BA | c.851G>T (p.Gly284Val) c.-888+887C>A (n.-888+887C>A) | |
17 | g.4933456T>A | CA497677626 | CHRNE,GP1BA | c.852T>A (p.Gly284=) c.-888+886A>T (n.-888+886A>T) | |
17 | g.4933456T>C | CA497677628 | CHRNE,GP1BA | c.852T>C (p.Gly284=) c.-888+886A>G (n.-888+886A>G) | |
17 | g.4933456T>G | CA497677629 | CHRNE,GP1BA | c.852T>G (p.Gly284=) c.-888+886A>C (n.-888+886A>C) | |
17 | g.4933457G>A | CA397318987 | CHRNE,GP1BA | c.853G>A (p.Asp285Asn) c.-888+885C>T (n.-888+885C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933457G>C | CA397318989 | CHRNE,GP1BA | c.853G>C (p.Asp285His) c.-888+885C>G (n.-888+885C>G) | |
17 | g.4933457G= | CA2244625562 | CHRNE,GP1BA | c.853G= (p.Asp285=) c.-888+885C= (n.-888+885C=) | |
17 | g.4933457G>T | CA397318991 | CHRNE,GP1BA | c.853G>T (p.Asp285Tyr) c.-888+885C>A (n.-888+885C>A) | |
17 | g.4933458A= | CA2244625563 | CHRNE,GP1BA | c.854A= (p.Asp285=) c.-888+884T= (n.-888+884T=) | |
17 | g.4933458A>C | CA8314846 | CHRNE,GP1BA | c.854A>C (p.Asp285Ala) c.-888+884T>G (n.-888+884T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933458A>G | CA397318994 | CHRNE,GP1BA | c.854A>G (p.Asp285Gly) c.-888+884T>C (n.-888+884T>C) | dbSNP |
17 | g.4933458A>T | CA397318996 | CHRNE,GP1BA | c.854A>T (p.Asp285Val) c.-888+884T>A (n.-888+884T>A) | |
17 | g.4933459T>A | CA397318998 | CHRNE,GP1BA | c.855T>A (p.Asp285Glu) c.-888+883A>T (n.-888+883A>T) | |
17 | g.4933459T>C | CA497677636 | CHRNE,GP1BA | c.855T>C (p.Asp285=) c.-888+883A>G (n.-888+883A>G) | |
17 | g.4933459T>G | CA397319000 | CHRNE,GP1BA | c.855T>G (p.Asp285Glu) c.-888+883A>C (n.-888+883A>C) | |
17 | g.4933460G>A | CA397319001 | CHRNE,GP1BA | c.856G>A (p.Glu286Lys) c.-888+882C>T (n.-888+882C>T) | gnomAD v4 |
17 | g.4933460G>C | CA397319002 | CHRNE,GP1BA | c.856G>C (p.Glu286Gln) c.-888+882C>G (n.-888+882C>G) | |
17 | g.4933460G>T | CA397319004 | CHRNE,GP1BA | c.856G>T (p.Glu286Ter) c.-888+882C>A (n.-888+882C>A) | COSMIC |
17 | g.4933461A>C | CA397319009 | CHRNE,GP1BA | c.857A>C (p.Glu286Ala) c.-888+881T>G (n.-888+881T>G) | |
17 | g.4933461A>G | CA397319007 | CHRNE,GP1BA | c.857A>G (p.Glu286Gly) c.-888+881T>C (n.-888+881T>C) | |
17 | g.4933461A>T | CA397319005 | CHRNE,GP1BA | c.857A>T (p.Glu286Val) c.-888+881T>A (n.-888+881T>A) | |
17 | g.4933462A>C | CA397319011 | CHRNE,GP1BA | c.858A>C (p.Glu286Asp) c.-888+880T>G (n.-888+880T>G) | |
17 | g.4933462A>G | CA497677638 | CHRNE,GP1BA | c.858A>G (p.Glu286=) c.-888+880T>C (n.-888+880T>C) | |
17 | g.4933462A>T | CA397319012 | CHRNE,GP1BA | c.858A>T (p.Glu286Asp) c.-888+880T>A (n.-888+880T>A) | |
17 | g.4933463G>A | CA397319014 | CHRNE,GP1BA | c.859G>A (p.Gly287Ser) c.-888+879C>T (n.-888+879C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933463G>C | CA397319016 | CHRNE,GP1BA | c.859G>C (p.Gly287Arg) c.-888+879C>G (n.-888+879C>G) | |
17 | g.4933463G= | CA2244625564 | CHRNE,GP1BA | c.859G= (p.Gly287=) c.-888+879C= (n.-888+879C=) | |
17 | g.4933463G>T | CA397319017 | CHRNE,GP1BA | c.859G>T (p.Gly287Cys) c.-888+879C>A (n.-888+879C>A) | |
17 | g.4933464G>A | CA397319020 | CHRNE,GP1BA | c.860G>A (p.Gly287Asp) c.-888+878C>T (n.-888+878C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933464G>C | CA397319022 | CHRNE,GP1BA | c.860G>C (p.Gly287Ala) c.-888+878C>G (n.-888+878C>G) | |
17 | g.4933464G= | CA2244625565 | CHRNE,GP1BA | c.860G= (p.Gly287=) c.-888+878C= (n.-888+878C=) | |
17 | g.4933464G>T | CA397319023 | CHRNE,GP1BA | c.860G>T (p.Gly287Val) c.-888+878C>A (n.-888+878C>A) | |
17 | g.4933465T>A | CA497677642 | CHRNE,GP1BA | c.861T>A (p.Gly287=) c.-888+877A>T (n.-888+877A>T) | |
17 | g.4933465T>C | CA497677644 | CHRNE,GP1BA | c.861T>C (p.Gly287=) c.-888+877A>G (n.-888+877A>G) | |
17 | g.4933465T>G | CA497677646 | CHRNE,GP1BA | c.861T>G (p.Gly287=) c.-888+877A>C (n.-888+877A>C) | |
17 | g.4933466G>A | CA397319025 | CHRNE,GP1BA | c.862G>A (p.Asp288Asn) c.-888+876C>T (n.-888+876C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.4933466G>C | CA397319027 | CHRNE,GP1BA | c.862G>C (p.Asp288His) c.-888+876C>G (n.-888+876C>G) | |
17 | g.4933466G= | CA2244625566 | CHRNE,GP1BA | c.862G= (p.Asp288=) c.-888+876C= (n.-888+876C=) | |
17 | g.4933466G>T | CA397319029 | CHRNE,GP1BA | c.862G>T (p.Asp288Tyr) c.-888+876C>A (n.-888+876C>A) | |
17 | g.4933467A>C | CA397319034 | CHRNE,GP1BA | c.863A>C (p.Asp288Ala) c.-888+875T>G (n.-888+875T>G) | |
17 | g.4933467A>G | CA397319032 | CHRNE,GP1BA | c.863A>G (p.Asp288Gly) c.-888+875T>C (n.-888+875T>C) | |
17 | g.4933467A>T | CA397319030 | CHRNE,GP1BA | c.863A>T (p.Asp288Val) c.-888+875T>A (n.-888+875T>A) | |
17 | g.4933468C>A | CA397319036 | CHRNE,GP1BA | c.864C>A (p.Asp288Glu) c.-888+874G>T (n.-888+874G>T) | |
17 | g.4933468C>G | CA397319037 | CHRNE,GP1BA | c.864C>G (p.Asp288Glu) c.-888+874G>C (n.-888+874G>C) | |
17 | g.4933468C>T | CA497677989 | CHRNE,GP1BA | c.864C>T (p.Asp288=) c.-888+874G>A (n.-888+874G>A) | gnomAD v4 |
17 | g.4933469A= | CA2244625567 | CHRNE,GP1BA | c.865A= (p.Thr289=) c.-888+873T= (n.-888+873T=) | |
17 | g.4933469A>C | CA397319039 | CHRNE,GP1BA | c.865A>C (p.Thr289Pro) c.-888+873T>G (n.-888+873T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933469A>G | CA397319041 | CHRNE,GP1BA | c.865A>G (p.Thr289Ala) c.-888+873T>C (n.-888+873T>C) | |
17 | g.4933469A>T | CA397319043 | CHRNE,GP1BA | c.865A>T (p.Thr289Ser) c.-888+873T>A (n.-888+873T>A) | |
17 | g.4933470C>A | CA397319045 | CHRNE,GP1BA | c.866C>A (p.Thr289Lys) c.-888+872G>T (n.-888+872G>T) | gnomAD v4 |
17 | g.4933470C>G | CA397319047 | CHRNE,GP1BA | c.866C>G (p.Thr289Arg) c.-888+872G>C (n.-888+872G>C) | |
17 | g.4933470C>T | CA397319049 | CHRNE,GP1BA | c.866C>T (p.Thr289Ile) c.-888+872G>A (n.-888+872G>A) | gnomAD v4 |
17 | g.4933471A>C | CA497678003 | CHRNE,GP1BA | c.867A>C (p.Thr289=) c.-888+871T>G (n.-888+871T>G) | |
17 | g.4933471A>G | CA497678001 | CHRNE,GP1BA | c.867A>G (p.Thr289=) c.-888+871T>C (n.-888+871T>C) | |
17 | g.4933471A>T | CA497677998 | CHRNE,GP1BA | c.867A>T (p.Thr289=) c.-888+871T>A (n.-888+871T>A) | |
17 | g.4933472G>A | CA397319051 | CHRNE,GP1BA | c.868G>A (p.Asp290Asn) c.-888+870C>T (n.-888+870C>T) | gnomAD v4 |
17 | g.4933472G>C | CA397319052 | CHRNE,GP1BA | c.868G>C (p.Asp290His) c.-888+870C>G (n.-888+870C>G) | |
17 | g.4933472G= | CA2244625568 | CHRNE,GP1BA | c.868G= (p.Asp290=) c.-888+870C= (n.-888+870C=) | |
17 | g.4933472G>T | CA8314847 | CHRNE,GP1BA | c.868G>T (p.Asp290Tyr) c.-888+870C>A (n.-888+870C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933473A= | CA2244625569 | CHRNE,GP1BA | c.869A= (p.Asp290=) c.-888+869T= (n.-888+869T=) | |
17 | g.4933473A>C | CA397319054 | CHRNE,GP1BA | c.869A>C (p.Asp290Ala) c.-888+869T>G (n.-888+869T>G) | dbSNP gnomAD v2 |
17 | g.4933473A>G | CA397319056 | CHRNE,GP1BA | c.869A>G (p.Asp290Gly) c.-888+869T>C (n.-888+869T>C) | |
17 | g.4933473A>T | CA397319057 | CHRNE,GP1BA | c.869A>T (p.Asp290Val) c.-888+869T>A (n.-888+869T>A) | |
17 | g.4933474C>A | CA8314848 | CHRNE,GP1BA | c.870C>A (p.Asp290Glu) c.-888+868G>T (n.-888+868G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4933474C= | CA2244625570 | CHRNE,GP1BA | c.870C= (p.Asp290=) c.-888+868G= (n.-888+868G=) | |
17 | g.4933474C>G | CA397319060 | CHRNE,GP1BA | c.870C>G (p.Asp290Glu) c.-888+868G>C (n.-888+868G>C) | |
17 | g.4933474C>T | CA497678007 | CHRNE,GP1BA | c.870C>T (p.Asp290=) c.-888+868G>A (n.-888+868G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4933475C>A | CA397319062 | CHRNE,GP1BA | c.871C>A (p.Leu291Ile) c.-888+867G>T (n.-888+867G>T) | |
17 | g.4933475C= | CA2244625571 | CHRNE,GP1BA | c.871C= (p.Leu291=) c.-888+867G= (n.-888+867G=) | |
17 | g.4933475C>G | CA8314849 | CHRNE,GP1BA | c.871C>G (p.Leu291Val) c.-888+867G>C (n.-888+867G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933475C>T | CA497678011 | CHRNE,GP1BA | c.871C>T (p.Leu291=) c.-888+867G>A (n.-888+867G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933476T>A | CA397319065 | CHRNE,GP1BA | c.872T>A (p.Leu291Gln) c.-888+866A>T (n.-888+866A>T) | |
17 | g.4933476T>C | CA397319066 | CHRNE,GP1BA | c.872T>C (p.Leu291Pro) c.-888+866A>G (n.-888+866A>G) | |
17 | g.4933476T>G | CA397319068 | CHRNE,GP1BA | c.872T>G (p.Leu291Arg) c.-888+866A>C (n.-888+866A>C) | |
17 | g.4933477A= | CA2244625572 | CHRNE,GP1BA | c.873A= (p.Leu291=) c.-888+865T= (n.-888+865T=) | |
17 | g.4933477A>C | CA497678015 | CHRNE,GP1BA | c.873A>C (p.Leu291=) c.-888+865T>G (n.-888+865T>G) | |
17 | g.4933477A>G | CA8314850 | CHRNE,GP1BA | c.873A>G (p.Leu291=) c.-888+865T>C (n.-888+865T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933477A>T | CA497678016 | CHRNE,GP1BA | c.873A>T (p.Leu291=) c.-888+865T>A (n.-888+865T>A) | |
17 | g.4933478T>A | CA397319071 | CHRNE,GP1BA | c.874T>A (p.Tyr292Asn) c.-888+864A>T (n.-888+864A>T) | |
17 | g.4933478T>C | CA287216676 | CHRNE,GP1BA | c.874T>C (p.Tyr292His) c.-888+864A>G (n.-888+864A>G) | dbSNP gnomAD v4 |
17 | g.4933478T>G | CA397319073 | CHRNE,GP1BA | c.874T>G (p.Tyr292Asp) c.-888+864A>C (n.-888+864A>C) | |
17 | g.4933478T= | CA2244625573 | CHRNE,GP1BA | c.874T= (p.Tyr292=) c.-888+864A= (n.-888+864A=) | |
17 | g.4933479A>C | CA397319076 | CHRNE,GP1BA | c.875A>C (p.Tyr292Ser) c.-888+863T>G (n.-888+863T>G) | |
17 | g.4933479A>G | CA397319077 | CHRNE,GP1BA | c.875A>G (p.Tyr292Cys) c.-888+863T>C (n.-888+863T>C) | gnomAD v4 |
17 | g.4933479A>T | CA397319078 | CHRNE,GP1BA | c.875A>T (p.Tyr292Phe) c.-888+863T>A (n.-888+863T>A) | |
17 | g.4933480T>A | CA397319080 | CHRNE,GP1BA | c.876T>A (p.Tyr292Ter) c.-888+862A>T (n.-888+862A>T) | gnomAD v4 |
17 | g.4933480T>C | CA497678022 | CHRNE,GP1BA | c.876T>C (p.Tyr292=) c.-888+862A>G (n.-888+862A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933480T>G | CA397319079 | CHRNE,GP1BA | c.876T>G (p.Tyr292Ter) c.-888+862A>C (n.-888+862A>C) | |
17 | g.4933480T= | CA2244625574 | CHRNE,GP1BA | c.876T= (p.Tyr292=) c.-888+862A= (n.-888+862A=) | |
17 | g.4933481G>A | CA397319083 | CHRNE,GP1BA | c.877G>A (p.Asp293Asn) c.-888+861C>T (n.-888+861C>T) | |
17 | g.4933481G>C | CA397319086 | CHRNE,GP1BA | c.877G>C (p.Asp293His) c.-888+861C>G (n.-888+861C>G) | |
17 | g.4933481G>T | CA397319084 | CHRNE,GP1BA | c.877G>T (p.Asp293Tyr) c.-888+861C>A (n.-888+861C>A) | |
17 | g.4933482A>C | CA397319087 | CHRNE,GP1BA | c.878A>C (p.Asp293Ala) c.-888+860T>G (n.-888+860T>G) | |
17 | g.4933482A>G | CA397319088 | CHRNE,GP1BA | c.878A>G (p.Asp293Gly) c.-888+860T>C (n.-888+860T>C) | |
17 | g.4933482A>T | CA397319089 | CHRNE,GP1BA | c.878A>T (p.Asp293Val) c.-888+860T>A (n.-888+860T>A) | |
17 | g.4933483T>A | CA397319091 | CHRNE,GP1BA | c.879T>A (p.Asp293Glu) c.-888+859A>T (n.-888+859A>T) | |
17 | g.4933483T>C | CA497678033 | CHRNE,GP1BA | c.879T>C (p.Asp293=) c.-888+859A>G (n.-888+859A>G) | |
17 | g.4933483T>G | CA397319092 | CHRNE,GP1BA | c.879T>G (p.Asp293Glu) c.-888+859A>C (n.-888+859A>C) | |
17 | g.4933484T>A | CA397319094 | CHRNE,GP1BA | c.880T>A (p.Tyr294Asn) c.-888+858A>T (n.-888+858A>T) | |
17 | g.4933484T>C | CA397319095 | CHRNE,GP1BA | c.880T>C (p.Tyr294His) c.-888+858A>G (n.-888+858A>G) | dbSNP gnomAD v4 |
17 | g.4933484T>G | CA397319097 | CHRNE,GP1BA | c.880T>G (p.Tyr294Asp) c.-888+858A>C (n.-888+858A>C) | |
17 | g.4933484T= | CA2244625575 | CHRNE,GP1BA | c.880T= (p.Tyr294=) c.-888+858A= (n.-888+858A=) | |
17 | g.4933485A= | CA2244625576 | CHRNE,GP1BA | c.881A= (p.Tyr294=) c.-888+857T= (n.-888+857T=) | |
17 | g.4933485A>C | CA397319098 | CHRNE,GP1BA | c.881A>C (p.Tyr294Ser) c.-888+857T>G (n.-888+857T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933485A>G | CA397319099 | CHRNE,GP1BA | c.881A>G (p.Tyr294Cys) c.-888+857T>C (n.-888+857T>C) | |
17 | g.4933485A>T | CA397319101 | CHRNE,GP1BA | c.881A>T (p.Tyr294Phe) c.-888+857T>A (n.-888+857T>A) | |
17 | g.4933486C>A | CA397319103 | CHRNE,GP1BA | c.882C>A (p.Tyr294Ter) c.-888+856G>T (n.-888+856G>T) | |
17 | g.4933486C>G | CA397319104 | CHRNE,GP1BA | c.882C>G (p.Tyr294Ter) c.-888+856G>C (n.-888+856G>C) | gnomAD v4 |
17 | g.4933486C>T | CA497678039 | CHRNE,GP1BA | c.882C>T (p.Tyr294=) c.-888+856G>A (n.-888+856G>A) | |
17 | g.4933487T>A | CA397319106 | CHRNE,GP1BA | c.883T>A (p.Tyr295Asn) c.-888+855A>T (n.-888+855A>T) | |
17 | g.4933487T>C | CA397319109 | CHRNE,GP1BA | c.883T>C (p.Tyr295His) c.-888+855A>G (n.-888+855A>G) | |
17 | g.4933487T>G | CA397319107 | CHRNE,GP1BA | c.883T>G (p.Tyr295Asp) c.-888+855A>C (n.-888+855A>C) | |
17 | g.4933488A>C | CA397319111 | CHRNE,GP1BA | c.884A>C (p.Tyr295Ser) c.-888+854T>G (n.-888+854T>G) | |
17 | g.4933488A>G | CA397319113 | CHRNE,GP1BA | c.884A>G (p.Tyr295Cys) c.-888+854T>C (n.-888+854T>C) | |
17 | g.4933488A>T | CA397319115 | CHRNE,GP1BA | c.884A>T (p.Tyr295Phe) c.-888+854T>A (n.-888+854T>A) | |
17 | g.4933489C>A | CA397319116 | CHRNE,GP1BA | c.885C>A (p.Tyr295Ter) c.-888+853G>T (n.-888+853G>T) | |
17 | g.4933489C= | CA2244625577 | CHRNE,GP1BA | c.885C= (p.Tyr295=) c.-888+853G= (n.-888+853G=) | |
17 | g.4933489C>G | CA397319117 | CHRNE,GP1BA | c.885C>G (p.Tyr295Ter) c.-888+853G>C (n.-888+853G>C) | |
17 | g.4933489C>T | CA497678048 | CHRNE,GP1BA | c.885C>T (p.Tyr295=) c.-888+853G>A (n.-888+853G>A) | dbSNP |
17 | g.4933490C>A | CA397319118 | CHRNE,GP1BA | c.886C>A (p.Pro296Thr) c.-888+852G>T (n.-888+852G>T) | |
17 | g.4933490C>G | CA397319119 | CHRNE,GP1BA | c.886C>G (p.Pro296Ala) c.-888+852G>C (n.-888+852G>C) | |
17 | g.4933490C>T | CA397319121 | CHRNE,GP1BA | c.886C>T (p.Pro296Ser) c.-888+852G>A (n.-888+852G>A) | gnomAD v4 |
17 | g.4933491C>A | CA397319122 | CHRNE,GP1BA | c.887C>A (p.Pro296Gln) c.-888+851G>T (n.-888+851G>T) | |
17 | g.4933491C= | CA2244625578 | CHRNE,GP1BA | c.887C= (p.Pro296=) c.-888+851G= (n.-888+851G=) | |
17 | g.4933491C>G | CA397319124 | CHRNE,GP1BA | c.887C>G (p.Pro296Arg) c.-888+851G>C (n.-888+851G>C) | gnomAD v4 |
17 | g.4933491C>T | CA397319125 | CHRNE,GP1BA | c.887C>T (p.Pro296Leu) c.-888+851G>A (n.-888+851G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933492A= | CA2244625579 | CHRNE,GP1BA | c.888A= (p.Pro296=) c.-888+850T= (n.-888+850T=) | |
17 | g.4933492A>C | CA497678059 | CHRNE,GP1BA | c.888A>C (p.Pro296=) c.-888+850T>G (n.-888+850T>G) | |
17 | g.4933492A>G | CA497678061 | CHRNE,GP1BA | c.888A>G (p.Pro296=) c.-888+850T>C (n.-888+850T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933492A>T | CA497678063 | CHRNE,GP1BA | c.888A>T (p.Pro296=) c.-888+850T>A (n.-888+850T>A) | gnomAD v4 |
17 | g.4933494_4933498del | CA2635578904 | CHRNE,GP1BA | c.890_894del (p.Glu297GlyfsTer3) c.-888+846_-888+850del (n.-888+846_-888+850del) | gnomAD v4 |
17 | g.4933493G>A | CA397319129 | CHRNE,GP1BA | c.889G>A (p.Glu297Lys) c.-888+849C>T (n.-888+849C>T) | |
17 | g.4933493G>C | CA397319128 | CHRNE,GP1BA | c.889G>C (p.Glu297Gln) c.-888+849C>G (n.-888+849C>G) | |
17 | g.4933493G>T | CA397319126 | CHRNE,GP1BA | c.889G>T (p.Glu297Ter) c.-888+849C>A (n.-888+849C>A) | |
17 | g.4933494A>C | CA397319133 | CHRNE,GP1BA | c.890A>C (p.Glu297Ala) c.-888+848T>G (n.-888+848T>G) | |
17 | g.4933494A>G | CA397319131 | CHRNE,GP1BA | c.890A>G (p.Glu297Gly) c.-888+848T>C (n.-888+848T>C) | |
17 | g.4933494A>T | CA397319132 | CHRNE,GP1BA | c.890A>T (p.Glu297Val) c.-888+848T>A (n.-888+848T>A) | |
17 | g.4933495A>C | CA397319135 | CHRNE,GP1BA | c.891A>C (p.Glu297Asp) c.-888+847T>G (n.-888+847T>G) | |
17 | g.4933495A>G | CA497678070 | CHRNE,GP1BA | c.891A>G (p.Glu297=) c.-888+847T>C (n.-888+847T>C) | |
17 | g.4933495A>T | CA397319136 | CHRNE,GP1BA | c.891A>T (p.Glu297Asp) c.-888+847T>A (n.-888+847T>A) | |
17 | g.4933496G>A | CA397319138 | CHRNE,GP1BA | c.892G>A (p.Glu298Lys) c.-888+846C>T (n.-888+846C>T) | gnomAD v4 |
17 | g.4933496G>C | CA397319140 | CHRNE,GP1BA | c.892G>C (p.Glu298Gln) c.-888+846C>G (n.-888+846C>G) | |
17 | g.4933496G>T | CA397319141 | CHRNE,GP1BA | c.892G>T (p.Glu298Ter) c.-888+846C>A (n.-888+846C>A) | |
17 | g.4933497A>C | CA397319144 | CHRNE,GP1BA | c.893A>C (p.Glu298Ala) c.-888+845T>G (n.-888+845T>G) | |
17 | g.4933497A>G | CA397319145 | CHRNE,GP1BA | c.893A>G (p.Glu298Gly) c.-888+845T>C (n.-888+845T>C) | |
17 | g.4933497A>T | CA397319146 | CHRNE,GP1BA | c.893A>T (p.Glu298Val) c.-888+845T>A (n.-888+845T>A) | |
17 | g.4933498G>A | CA497678079 | CHRNE,GP1BA | c.894G>A (p.Glu298=) c.-888+844C>T (n.-888+844C>T) | |
17 | g.4933498G>C | CA397319148 | CHRNE,GP1BA | c.894G>C (p.Glu298Asp) c.-888+844C>G (n.-888+844C>G) | |
17 | g.4933498G>T | CA397319150 | CHRNE,GP1BA | c.894G>T (p.Glu298Asp) c.-888+844C>A (n.-888+844C>A) | |
17 | g.4933499G>A | CA397319153 | CHRNE,GP1BA | c.895G>A (p.Asp299Asn) c.-888+843C>T (n.-888+843C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4933499G>C | CA397319154 | CHRNE,GP1BA | c.895G>C (p.Asp299His) c.-888+843C>G (n.-888+843C>G) | |
17 | g.4933499G= | CA2244625580 | CHRNE,GP1BA | c.895G= (p.Asp299=) c.-888+843C= (n.-888+843C=) | |
17 | g.4933499G>T | CA397319152 | CHRNE,GP1BA | c.895G>T (p.Asp299Tyr) c.-888+843C>A (n.-888+843C>A) | |
17 | g.4933500A>C | CA397319156 | CHRNE,GP1BA | c.896A>C (p.Asp299Ala) c.-888+842T>G (n.-888+842T>G) | |
17 | g.4933500A>G | CA397319158 | CHRNE,GP1BA | c.896A>G (p.Asp299Gly) c.-888+842T>C (n.-888+842T>C) | |
17 | g.4933500A>T | CA397319159 | CHRNE,GP1BA | c.896A>T (p.Asp299Val) c.-888+842T>A (n.-888+842T>A) |