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.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) | |
| 17 | g.4933501C>A | CA397319161 | CHRNE,GP1BA | c.897C>A (p.Asp299Glu) c.-888+841G>T (n.-888+841G>T) | |
| 17 | g.4933501C= | CA2244625581 | CHRNE,GP1BA | c.897C= (p.Asp299=) c.-888+841G= (n.-888+841G=) | |
| 17 | g.4933501C>G | CA397319162 | CHRNE,GP1BA | c.897C>G (p.Asp299Glu) c.-888+841G>C (n.-888+841G>C) | |
| 17 | g.4933501C>T | CA497678089 | CHRNE,GP1BA | c.897C>T (p.Asp299=) c.-888+841G>A (n.-888+841G>A) | dbSNP gnomAD v4 |
| 17 | g.4933502A>C | CA397319168 | CHRNE,GP1BA | c.898A>C (p.Thr300Pro) c.-888+840T>G (n.-888+840T>G) | |
| 17 | g.4933502A>G | CA397319165 | CHRNE,GP1BA | c.898A>G (p.Thr300Ala) c.-888+840T>C (n.-888+840T>C) | gnomAD v4 |
| 17 | g.4933502A>T | CA397319166 | CHRNE,GP1BA | c.898A>T (p.Thr300Ser) c.-888+840T>A (n.-888+840T>A) | |
| 17 | g.4933503C>A | CA397319170 | CHRNE,GP1BA | c.899C>A (p.Thr300Asn) c.-888+839G>T (n.-888+839G>T) | |
| 17 | g.4933503C>G | CA397319172 | CHRNE,GP1BA | c.899C>G (p.Thr300Ser) c.-888+839G>C (n.-888+839G>C) | |
| 17 | g.4933503C>T | CA397319173 | CHRNE,GP1BA | c.899C>T (p.Thr300Ile) c.-888+839G>A (n.-888+839G>A) | |
| 17 | g.4933504T>A | CA497678097 | CHRNE,GP1BA | c.900T>A (p.Thr300=) c.-888+838A>T (n.-888+838A>T) | |
| 17 | g.4933504T>C | CA497678098 | CHRNE,GP1BA | c.900T>C (p.Thr300=) c.-888+838A>G (n.-888+838A>G) | gnomAD v4 |
| 17 | g.4933504T>G | CA497678099 | CHRNE,GP1BA | c.900T>G (p.Thr300=) c.-888+838A>C (n.-888+838A>C) | |
| 17 | g.4933505G>A | CA287216682 | CHRNE,GP1BA | c.901G>A (p.Glu301Lys) c.-888+837C>T (n.-888+837C>T) | dbSNP |
| 17 | g.4933505G>C | CA397319176 | CHRNE,GP1BA | c.901G>C (p.Glu301Gln) c.-888+837C>G (n.-888+837C>G) | |
| 17 | g.4933505G= | CA2244625582 | CHRNE,GP1BA | c.901G= (p.Glu301=) c.-888+837C= (n.-888+837C=) | |
| 17 | g.4933505G>T | CA397319178 | CHRNE,GP1BA | c.901G>T (p.Glu301Ter) c.-888+837C>A (n.-888+837C>A) | |
| 17 | g.4933506A>C | CA397319182 | CHRNE,GP1BA | c.902A>C (p.Glu301Ala) c.-888+836T>G (n.-888+836T>G) | |
| 17 | g.4933506A>G | CA397319181 | CHRNE,GP1BA | c.902A>G (p.Glu301Gly) c.-888+836T>C (n.-888+836T>C) | |
| 17 | g.4933506A>T | CA397319179 | CHRNE,GP1BA | c.902A>T (p.Glu301Val) c.-888+836T>A (n.-888+836T>A) | |
| 17 | g.4933507G>A | CA497678107 | CHRNE,GP1BA | c.903G>A (p.Glu301=) c.-888+835C>T (n.-888+835C>T) | gnomAD v4 |
| 17 | g.4933507G>C | CA397319183 | CHRNE,GP1BA | c.903G>C (p.Glu301Asp) c.-888+835C>G (n.-888+835C>G) | |
| 17 | g.4933507G>T | CA397319184 | CHRNE,GP1BA | c.903G>T (p.Glu301Asp) c.-888+835C>A (n.-888+835C>A) | |
| 17 | g.4933508G>A | CA8314851 | CHRNE,GP1BA | c.904G>A (p.Gly302Ser) c.-888+834C>T (n.-888+834C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933508G>C | CA397319185 | CHRNE,GP1BA | c.904G>C (p.Gly302Arg) c.-888+834C>G (n.-888+834C>G) | |
| 17 | g.4933508G= | CA2244625583 | CHRNE,GP1BA | c.904G= (p.Gly302=) c.-888+834C= (n.-888+834C=) | |
| 17 | g.4933508G>T | CA397319187 | CHRNE,GP1BA | c.904G>T (p.Gly302Cys) c.-888+834C>A (n.-888+834C>A) | |
| 17 | g.4933509G>A | CA8314852 | CHRNE,GP1BA | c.905G>A (p.Gly302Asp) c.-888+833C>T (n.-888+833C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933509G>C | CA397319189 | CHRNE,GP1BA | c.905G>C (p.Gly302Ala) c.-888+833C>G (n.-888+833C>G) | |
| 17 | g.4933509G= | CA2244625584 | CHRNE,GP1BA | c.905G= (p.Gly302=) c.-888+833C= (n.-888+833C=) | |
| 17 | g.4933509G>T | CA397319190 | CHRNE,GP1BA | c.905G>T (p.Gly302Val) c.-888+833C>A (n.-888+833C>A) | |
| 17 | g.4933510C>A | CA497678119 | CHRNE,GP1BA | c.906C>A (p.Gly302=) c.-888+832G>T (n.-888+832G>T) | |
| 17 | g.4933510C= | CA2244625585 | CHRNE,GP1BA | c.906C= (p.Gly302=) c.-888+832G= (n.-888+832G=) | |
| 17 | g.4933510C>G | CA497678117 | CHRNE,GP1BA | c.906C>G (p.Gly302=) c.-888+832G>C (n.-888+832G>C) | |
| 17 | g.4933510C>T | CA8314853 | CHRNE,GP1BA | c.906C>T (p.Gly302=) c.-888+832G>A (n.-888+832G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933511G>A | CA8314854 | CHRNE,GP1BA | c.907G>A (p.Asp303Asn) c.-888+831C>T (n.-888+831C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4933511G>C | CA397319194 | CHRNE,GP1BA | c.907G>C (p.Asp303His) c.-888+831C>G (n.-888+831C>G) | |
| 17 | g.4933511G= | CA2244625586 | CHRNE,GP1BA | c.907G= (p.Asp303=) c.-888+831C= (n.-888+831C=) | |
| 17 | g.4933511G>T | CA397319195 | CHRNE,GP1BA | c.907G>T (p.Asp303Tyr) c.-888+831C>A (n.-888+831C>A) | |
| 17 | g.4933512A>C | CA397319197 | CHRNE,GP1BA | c.908A>C (p.Asp303Ala) c.-888+830T>G (n.-888+830T>G) | |
| 17 | g.4933512A>G | CA397319199 | CHRNE,GP1BA | c.908A>G (p.Asp303Gly) c.-888+830T>C (n.-888+830T>C) | |
| 17 | g.4933512A>T | CA397319201 | CHRNE,GP1BA | c.908A>T (p.Asp303Val) c.-888+830T>A (n.-888+830T>A) | |
| 17 | g.4933513T>A | CA397319204 | CHRNE,GP1BA | c.909T>A (p.Asp303Glu) c.-888+829A>T (n.-888+829A>T) | |
| 17 | g.4933513T>C | CA497678131 | CHRNE,GP1BA | c.909T>C (p.Asp303=) c.-888+829A>G (n.-888+829A>G) | |
| 17 | g.4933513T>G | CA397319202 | CHRNE,GP1BA | c.909T>G (p.Asp303Glu) c.-888+829A>C (n.-888+829A>C) | |
| 17 | g.4933514A= | CA2244625587 | CHRNE,GP1BA | c.910A= (p.Lys304=) c.-888+828T= (n.-888+828T=) | |
| 17 | g.4933514A>C | CA397319206 | CHRNE,GP1BA | c.910A>C (p.Lys304Gln) c.-888+828T>G (n.-888+828T>G) | gnomAD v4 |
| 17 | g.4933514A>G | CA8314855 | CHRNE,GP1BA | c.910A>G (p.Lys304Glu) c.-888+828T>C (n.-888+828T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933514A>T | CA397319209 | CHRNE,GP1BA | c.910A>T (p.Lys304Ter) c.-888+828T>A (n.-888+828T>A) | |
| 17 | g.4933515A>C | CA397319211 | CHRNE,GP1BA | c.911A>C (p.Lys304Thr) c.-888+827T>G (n.-888+827T>G) | |
| 17 | g.4933515A>G | CA397319212 | CHRNE,GP1BA | c.911A>G (p.Lys304Arg) c.-888+827T>C (n.-888+827T>C) | |
| 17 | g.4933515A>T | CA397319213 | CHRNE,GP1BA | c.911A>T (p.Lys304Met) c.-888+827T>A (n.-888+827T>A) | |
| 17 | g.4933516G>A | CA497678137 | CHRNE,GP1BA | c.912G>A (p.Lys304=) c.-888+826C>T (n.-888+826C>T) | |
| 17 | g.4933516G>C | CA397319216 | CHRNE,GP1BA | c.912G>C (p.Lys304Asn) c.-888+826C>G (n.-888+826C>G) | |
| 17 | g.4933516G>T | CA397319214 | CHRNE,GP1BA | c.912G>T (p.Lys304Asn) c.-888+826C>A (n.-888+826C>A) | |
| 17 | g.4933517G>A | CA397319218 | CHRNE,GP1BA | c.913G>A (p.Val305Met) c.-888+825C>T (n.-888+825C>T) | |
| 17 | g.4933517G>C | CA397319219 | CHRNE,GP1BA | c.913G>C (p.Val305Leu) c.-888+825C>G (n.-888+825C>G) | |
| 17 | g.4933517G>T | CA397319221 | CHRNE,GP1BA | c.913G>T (p.Val305Leu) c.-888+825C>A (n.-888+825C>A) | |
| 17 | g.4933518T>A | CA397319223 | CHRNE,GP1BA | c.914T>A (p.Val305Glu) c.-888+824A>T (n.-888+824A>T) | |
| 17 | g.4933518T>C | CA397319224 | CHRNE,GP1BA | c.914T>C (p.Val305Ala) c.-888+824A>G (n.-888+824A>G) | |
| 17 | g.4933518T>G | CA397319226 | CHRNE,GP1BA | c.914T>G (p.Val305Gly) c.-888+824A>C (n.-888+824A>C) | |
| 17 | g.4933519G>A | CA497678148 | CHRNE,GP1BA | c.915G>A (p.Val305=) c.-888+823C>T (n.-888+823C>T) | |
| 17 | g.4933519G>C | CA287216704 | CHRNE,GP1BA | c.915G>C (p.Val305=) c.-888+823C>G (n.-888+823C>G) | dbSNP |
| 17 | g.4933519G= | CA2244625588 | CHRNE,GP1BA | c.915G= (p.Val305=) c.-888+823C= (n.-888+823C=) | |
| 17 | g.4933519G>T | CA497678151 | CHRNE,GP1BA | c.915G>T (p.Val305=) c.-888+823C>A (n.-888+823C>A) | |
| 17 | g.4933520C>A | CA397319228 | CHRNE,GP1BA | c.916C>A (p.Arg306Ser) c.-888+822G>T (n.-888+822G>T) | |
| 17 | g.4933520C= | CA2244625589 | CHRNE,GP1BA | c.916C= (p.Arg306=) c.-888+822G= (n.-888+822G=) | |
| 17 | g.4933520C>G | CA397319231 | CHRNE,GP1BA | c.916C>G (p.Arg306Gly) c.-888+822G>C (n.-888+822G>C) | |
| 17 | g.4933520C>T | CA8314856 | CHRNE,GP1BA | c.916C>T (p.Arg306Cys) c.-888+822G>A (n.-888+822G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933521G>A | CA8314857 | CHRNE,GP1BA | c.917G>A (p.Arg306His) c.-888+821C>T (n.-888+821C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933521G>C | CA397319234 | CHRNE,GP1BA | c.917G>C (p.Arg306Pro) c.-888+821C>G (n.-888+821C>G) | gnomAD v4 |
| 17 | g.4933521G= | CA2244625590 | CHRNE,GP1BA | c.917G= (p.Arg306=) c.-888+821C= (n.-888+821C=) | |
| 17 | g.4933521G>T | CA397319236 | CHRNE,GP1BA | c.917G>T (p.Arg306Leu) c.-888+821C>A (n.-888+821C>A) | |
| 17 | g.4933522T>A | CA497678159 | CHRNE,GP1BA | c.918T>A (p.Arg306=) c.-888+820A>T (n.-888+820A>T) | |
| 17 | g.4933522T>C | CA8314858 | CHRNE,GP1BA | c.918T>C (p.Arg306=) c.-888+820A>G (n.-888+820A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933522T>G | CA497678160 | CHRNE,GP1BA | c.918T>G (p.Arg306=) c.-888+820A>C (n.-888+820A>C) | |
| 17 | g.4933522T= | CA2244625591 | CHRNE,GP1BA | c.918T= (p.Arg306=) c.-888+820A= (n.-888+820A=) | |
| 17 | g.4933523G>A | CA397319240 | CHRNE,GP1BA | c.919G>A (p.Ala307Thr) c.-888+819C>T (n.-888+819C>T) | gnomAD v4 |
| 17 | g.4933523G>C | CA397319241 | CHRNE,GP1BA | c.919G>C (p.Ala307Pro) c.-888+819C>G (n.-888+819C>G) | |
| 17 | g.4933523G>T | CA397319243 | CHRNE,GP1BA | c.919G>T (p.Ala307Ser) c.-888+819C>A (n.-888+819C>A) | |
| 17 | g.4933524C>A | CA397319246 | CHRNE,GP1BA | c.920C>A (p.Ala307Asp) c.-888+818G>T (n.-888+818G>T) | |
| 17 | g.4933524C>G | CA397319247 | CHRNE,GP1BA | c.920C>G (p.Ala307Gly) c.-888+818G>C (n.-888+818G>C) | |
| 17 | g.4933524C>T | CA397319248 | CHRNE,GP1BA | c.920C>T (p.Ala307Val) c.-888+818G>A (n.-888+818G>A) | |
| 17 | g.4933525C>A | CA497678167 | CHRNE,GP1BA | c.921C>A (p.Ala307=) c.-888+817G>T (n.-888+817G>T) | |
| 17 | g.4933525C= | CA2244625592 | CHRNE,GP1BA | c.921C= (p.Ala307=) c.-888+817G= (n.-888+817G=) | |
| 17 | g.4933525C>G | CA497678168 | CHRNE,GP1BA | c.921C>G (p.Ala307=) c.-888+817G>C (n.-888+817G>C) | |
| 17 | g.4933525C>T | CA497678170 | CHRNE,GP1BA | c.921C>T (p.Ala307=) c.-888+817G>A (n.-888+817G>A) | dbSNP gnomAD v2 |
| 17 | g.4933526A>C | CA397319250 | CHRNE,GP1BA | c.922A>C (p.Thr308Pro) c.-888+816T>G (n.-888+816T>G) | |
| 17 | g.4933526A>G | CA397319252 | CHRNE,GP1BA | c.922A>G (p.Thr308Ala) c.-888+816T>C (n.-888+816T>C) | |
| 17 | g.4933526A>T | CA397319253 | CHRNE,GP1BA | c.922A>T (p.Thr308Ser) c.-888+816T>A (n.-888+816T>A) | gnomAD v4 |
| 17 | g.4933527C>A | CA397319258 | CHRNE,GP1BA | c.923C>A (p.Thr308Lys) c.-888+815G>T (n.-888+815G>T) | |
| 17 | g.4933527C>G | CA397319254 | CHRNE,GP1BA | c.923C>G (p.Thr308Arg) c.-888+815G>C (n.-888+815G>C) | |
| 17 | g.4933527C>T | CA397319256 | CHRNE,GP1BA | c.923C>T (p.Thr308Ile) c.-888+815G>A (n.-888+815G>A) | gnomAD v4 |
| 17 | g.4933528A= | CA2244625593 | CHRNE,GP1BA | c.924A= (p.Thr308=) c.-888+814T= (n.-888+814T=) | |
| 17 | g.4933528A>C | CA8314859 | CHRNE,GP1BA | c.924A>C (p.Thr308=) c.-888+814T>G (n.-888+814T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933528A>G | CA497678178 | CHRNE,GP1BA | c.924A>G (p.Thr308=) c.-888+814T>C (n.-888+814T>C) | |
| 17 | g.4933528A>T | CA497678180 | CHRNE,GP1BA | c.924A>T (p.Thr308=) c.-888+814T>A (n.-888+814T>A) | |
| 17 | g.4933529A>C | CA497678183 | CHRNE,GP1BA | c.925A>C (p.Arg309=) c.-888+813T>G (n.-888+813T>G) | |
| 17 | g.4933529A>G | CA397319260 | CHRNE,GP1BA | c.925A>G (p.Arg309Gly) c.-888+813T>C (n.-888+813T>C) | |
| 17 | g.4933529A>T | CA397319262 | CHRNE,GP1BA | c.925A>T (p.Arg309Trp) c.-888+813T>A (n.-888+813T>A) | |
| 17 | g.4933530G>A | CA397319264 | CHRNE,GP1BA | c.926G>A (p.Arg309Lys) c.-888+812C>T (n.-888+812C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933530G>C | CA397319266 | CHRNE,GP1BA | c.926G>C (p.Arg309Thr) c.-888+812C>G (n.-888+812C>G) | |
| 17 | g.4933530G= | CA2244625594 | CHRNE,GP1BA | c.926G= (p.Arg309=) c.-888+812C= (n.-888+812C=) | |
| 17 | g.4933530G>T | CA397319267 | CHRNE,GP1BA | c.926G>T (p.Arg309Met) c.-888+812C>A (n.-888+812C>A) | |
| 17 | g.4933531G>A | CA497678184 | CHRNE,GP1BA | c.927G>A (p.Arg309=) c.-888+811C>T (n.-888+811C>T) | |
| 17 | g.4933531G>C | CA397319269 | CHRNE,GP1BA | c.927G>C (p.Arg309Ser) c.-888+811C>G (n.-888+811C>G) | |
| 17 | g.4933531G>T | CA397319271 | CHRNE,GP1BA | c.927G>T (p.Arg309Ser) c.-888+811C>A (n.-888+811C>A) | |
| 17 | g.4933532A= | CA2244625595 | CHRNE,GP1BA | c.928A= (p.Thr310=) c.-888+810T= (n.-888+810T=) | |
| 17 | g.4933532A>C | CA397319272 | CHRNE,GP1BA | c.928A>C (p.Thr310Pro) c.-888+810T>G (n.-888+810T>G) | |
| 17 | g.4933532A>G | CA397319273 | CHRNE,GP1BA | c.928A>G (p.Thr310Ala) c.-888+810T>C (n.-888+810T>C) | dbSNP |
| 17 | g.4933532A>T | CA397319275 | CHRNE,GP1BA | c.928A>T (p.Thr310Ser) c.-888+810T>A (n.-888+810T>A) | |
| 17 | g.4933533C>A | CA397319278 | CHRNE,GP1BA | c.929C>A (p.Thr310Asn) c.-888+809G>T (n.-888+809G>T) | |
| 17 | g.4933533C= | CA2244625596 | CHRNE,GP1BA | c.929C= (p.Thr310=) c.-888+809G= (n.-888+809G=) | |
| 17 | g.4933533C>G | CA397319280 | CHRNE,GP1BA | c.929C>G (p.Thr310Ser) c.-888+809G>C (n.-888+809G>C) | gnomAD v4 |
| 17 | g.4933533C>T | CA397319279 | CHRNE,GP1BA | c.929C>T (p.Thr310Ile) c.-888+809G>A (n.-888+809G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933534T>A | CA497678195 | CHRNE,GP1BA | c.930T>A (p.Thr310=) c.-888+808A>T (n.-888+808A>T) | |
| 17 | g.4933534T>C | CA8314860 | CHRNE,GP1BA | c.930T>C (p.Thr310=) c.-888+808A>G (n.-888+808A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933534T>G | CA497678199 | CHRNE,GP1BA | c.930T>G (p.Thr310=) c.-888+808A>C (n.-888+808A>C) | |
| 17 | g.4933534T= | CA2244625597 | CHRNE,GP1BA | c.930T= (p.Thr310=) c.-888+808A= (n.-888+808A=) | |
| 17 | g.4933536_4933537del | CA2695224148 | CHRNE,GP1BA | c.932_933del (p.Val311GlyfsTer?) c.-888+807_-888+808del (n.-888+807_-888+808del) | |
| 17 | g.4933535G>A | CA397319286 | CHRNE,GP1BA | c.931G>A (p.Val311Met) c.-888+807C>T (n.-888+807C>T) | |
| 17 | g.4933535G>C | CA397319283 | CHRNE,GP1BA | c.931G>C (p.Val311Leu) c.-888+807C>G (n.-888+807C>G) | |
| 17 | g.4933535G>T | CA397319285 | CHRNE,GP1BA | c.931G>T (p.Val311Leu) c.-888+807C>A (n.-888+807C>A) | |
| 17 | g.4933536T>A | CA397319288 | CHRNE,GP1BA | c.932T>A (p.Val311Glu) c.-888+806A>T (n.-888+806A>T) | |
| 17 | g.4933536T>C | CA397319290 | CHRNE,GP1BA | c.932T>C (p.Val311Ala) c.-888+806A>G (n.-888+806A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933536T>G | CA397319291 | CHRNE,GP1BA | c.932T>G (p.Val311Gly) c.-888+806A>C (n.-888+806A>C) | |
| 17 | g.4933536T= | CA2244625598 | CHRNE,GP1BA | c.932T= (p.Val311=) c.-888+806A= (n.-888+806A=) | |
| 17 | g.4933537G>A | CA497678208 | CHRNE,GP1BA | c.933G>A (p.Val311=) c.-888+805C>T (n.-888+805C>T) | gnomAD v4 |
| 17 | g.4933537G>C | CA497678210 | CHRNE,GP1BA | c.933G>C (p.Val311=) c.-888+805C>G (n.-888+805C>G) | |
| 17 | g.4933537G>T | CA497678213 | CHRNE,GP1BA | c.933G>T (p.Val311=) c.-888+805C>A (n.-888+805C>A) | |
| 17 | g.4933538G>A | CA397319296 | CHRNE,GP1BA | c.934G>A (p.Val312Ile) c.-888+804C>T (n.-888+804C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933538G>C | CA397319294 | CHRNE,GP1BA | c.934G>C (p.Val312Leu) c.-888+804C>G (n.-888+804C>G) | |
| 17 | g.4933538G= | CA2244625599 | CHRNE,GP1BA | c.934G= (p.Val312=) c.-888+804C= (n.-888+804C=) | |
| 17 | g.4933538G>T | CA397319293 | CHRNE,GP1BA | c.934G>T (p.Val312Phe) c.-888+804C>A (n.-888+804C>A) | |
| 17 | g.4933539T>A | CA397319298 | CHRNE,GP1BA | c.935T>A (p.Val312Asp) c.-888+803A>T (n.-888+803A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933539T>C | CA397319299 | CHRNE,GP1BA | c.935T>C (p.Val312Ala) c.-888+803A>G (n.-888+803A>G) | dbSNP |
| 17 | g.4933539T>G | CA8314861 | CHRNE,GP1BA | c.935T>G (p.Val312Gly) c.-888+803A>C (n.-888+803A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933539T= | CA2244625600 | CHRNE,GP1BA | c.935T= (p.Val312=) c.-888+803A= (n.-888+803A=) | |
| 17 | g.4933540C>A | CA497678220 | CHRNE,GP1BA | c.936C>A (p.Val312=) c.-888+802G>T (n.-888+802G>T) | gnomAD v4 |
| 17 | g.4933540C>G | CA497678221 | CHRNE,GP1BA | c.936C>G (p.Val312=) c.-888+802G>C (n.-888+802G>C) | |
| 17 | g.4933540C>T | CA497678223 | CHRNE,GP1BA | c.936C>T (p.Val312=) c.-888+802G>A (n.-888+802G>A) | COSMIC |
| 17 | g.4933541A>C | CA397319302 | CHRNE,GP1BA | c.937A>C (p.Lys313Gln) c.-888+801T>G (n.-888+801T>G) | |
| 17 | g.4933541A>G | CA397319303 | CHRNE,GP1BA | c.937A>G (p.Lys313Glu) c.-888+801T>C (n.-888+801T>C) | |
| 17 | g.4933541A>T | CA397319305 | CHRNE,GP1BA | c.937A>T (p.Lys313Ter) c.-888+801T>A (n.-888+801T>A) | |
| 17 | g.4933542A>C | CA397319311 | CHRNE,GP1BA | c.938A>C (p.Lys313Thr) c.-888+800T>G (n.-888+800T>G) | |
| 17 | g.4933542A>G | CA397319307 | CHRNE,GP1BA | c.938A>G (p.Lys313Arg) c.-888+800T>C (n.-888+800T>C) | |
| 17 | g.4933542A>T | CA397319309 | CHRNE,GP1BA | c.938A>T (p.Lys313Met) c.-888+800T>A (n.-888+800T>A) | |
| 17 | g.4933543G>A | CA497678229 | CHRNE,GP1BA | c.939G>A (p.Lys313=) c.-888+799C>T (n.-888+799C>T) | |
| 17 | g.4933543G>C | CA397319313 | CHRNE,GP1BA | c.939G>C (p.Lys313Asn) c.-888+799C>G (n.-888+799C>G) | |
| 17 | g.4933543G>T | CA397319315 | CHRNE,GP1BA | c.939G>T (p.Lys313Asn) c.-888+799C>A (n.-888+799C>A) | |
| 17 | g.4933544T>A | CA397319316 | CHRNE,GP1BA | c.940T>A (p.Phe314Ile) c.-888+798A>T (n.-888+798A>T) | |
| 17 | g.4933544T>C | CA397319317 | CHRNE,GP1BA | c.940T>C (p.Phe314Leu) c.-888+798A>G (n.-888+798A>G) | |
| 17 | g.4933544T>G | CA397319319 | CHRNE,GP1BA | c.940T>G (p.Phe314Val) c.-888+798A>C (n.-888+798A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933544T= | CA2244625601 | CHRNE,GP1BA | c.940T= (p.Phe314=) c.-888+798A= (n.-888+798A=) | |
| 17 | g.4933545dup | CA2695224149 | CHRNE,GP1BA | c.941dup (p.Thr316HisfsTer?) c.-888+798dup (n.-888+798dup) | |
| 17 | g.4933545T>A | CA397319321 | CHRNE,GP1BA | c.941T>A (p.Phe314Tyr) c.-888+797A>T (n.-888+797A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933545T>C | CA397319322 | CHRNE,GP1BA | c.941T>C (p.Phe314Ser) c.-888+797A>G (n.-888+797A>G) | |
| 17 | g.4933545T>G | CA397319323 | CHRNE,GP1BA | c.941T>G (p.Phe314Cys) c.-888+797A>C (n.-888+797A>C) | |
| 17 | g.4933545T= | CA2244625602 | CHRNE,GP1BA | c.941T= (p.Phe314=) c.-888+797A= (n.-888+797A=) | |
| 17 | g.4933546C>A | CA8314862 | CHRNE,GP1BA | c.942C>A (p.Phe314Leu) c.-888+796G>T (n.-888+796G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933546C= | CA2244625603 | CHRNE,GP1BA | c.942C= (p.Phe314=) c.-888+796G= (n.-888+796G=) | |
| 17 | g.4933546C>G | CA397319325 | CHRNE,GP1BA | c.942C>G (p.Phe314Leu) c.-888+796G>C (n.-888+796G>C) | dbSNP |
| 17 | g.4933546C>T | CA497678237 | CHRNE,GP1BA | c.942C>T (p.Phe314=) c.-888+796G>A (n.-888+796G>A) | |
| 17 | g.4933549del | CA2635578906 | CHRNE,GP1BA | c.945del (p.Thr316ProfsTer19) c.-888+796del (n.-888+796del) | gnomAD v4 |
| 17 | g.4933547C>A | CA397319327 | CHRNE,GP1BA | c.943C>A (p.Pro315Thr) c.-888+795G>T (n.-888+795G>T) | |
| 17 | g.4933547C= | CA2244625604 | CHRNE,GP1BA | c.943C= (p.Pro315=) c.-888+795G= (n.-888+795G=) | |
| 17 | g.4933547C>G | CA397319329 | CHRNE,GP1BA | c.943C>G (p.Pro315Ala) c.-888+795G>C (n.-888+795G>C) | |
| 17 | g.4933547C>T | CA8314863 | CHRNE,GP1BA | c.943C>T (p.Pro315Ser) c.-888+795G>A (n.-888+795G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933548C>A | CA397319331 | CHRNE,GP1BA | c.944C>A (p.Pro315His) c.-888+794G>T (n.-888+794G>T) | |
| 17 | g.4933548C>G | CA397319335 | CHRNE,GP1BA | c.944C>G (p.Pro315Arg) c.-888+794G>C (n.-888+794G>C) | |
| 17 | g.4933548C>T | CA397319333 | CHRNE,GP1BA | c.944C>T (p.Pro315Leu) c.-888+794G>A (n.-888+794G>A) | gnomAD v4 |
| 17 | g.4933549C>A | CA497678251 | CHRNE,GP1BA | c.945C>A (p.Pro315=) c.-888+793G>T (n.-888+793G>T) | |
| 17 | g.4933549C= | CA2244625605 | CHRNE,GP1BA | c.945C= (p.Pro315=) c.-888+793G= (n.-888+793G=) | |
| 17 | g.4933549C>G | CA497678249 | CHRNE,GP1BA | c.945C>G (p.Pro315=) c.-888+793G>C (n.-888+793G>C) | |
| 17 | g.4933549C>T | CA497678245 | CHRNE,GP1BA | c.945C>T (p.Pro315=) c.-888+793G>A (n.-888+793G>A) | dbSNP |
| 17 | g.4933550A>C | CA397319336 | CHRNE,GP1BA | c.946A>C (p.Thr316Pro) c.-888+792T>G (n.-888+792T>G) | |
| 17 | g.4933550A>G | CA397319337 | CHRNE,GP1BA | c.946A>G (p.Thr316Ala) c.-888+792T>C (n.-888+792T>C) | |
| 17 | g.4933550A>T | CA397319339 | CHRNE,GP1BA | c.946A>T (p.Thr316Ser) c.-888+792T>A (n.-888+792T>A) | |
| 17 | g.4933551C>A | CA8314864 | CHRNE,GP1BA | c.947C>A (p.Thr316Asn) c.-888+791G>T (n.-888+791G>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933551C= | CA2244625606 | CHRNE,GP1BA | c.947C= (p.Thr316=) c.-888+791G= (n.-888+791G=) | |
| 17 | g.4933551C>G | CA397319342 | CHRNE,GP1BA | c.947C>G (p.Thr316Ser) c.-888+791G>C (n.-888+791G>C) | |
| 17 | g.4933551C>T | CA397319343 | CHRNE,GP1BA | c.947C>T (p.Thr316Ile) c.-888+791G>A (n.-888+791G>A) | |
| 17 | g.4933552C>A | CA497678255 | CHRNE,GP1BA | c.948C>A (p.Thr316=) c.-888+790G>T (n.-888+790G>T) | |
| 17 | g.4933552C>G | CA497678256 | CHRNE,GP1BA | c.948C>G (p.Thr316=) c.-888+790G>C (n.-888+790G>C) | |
| 17 | g.4933552C>T | CA497678257 | CHRNE,GP1BA | c.948C>T (p.Thr316=) c.-888+790G>A (n.-888+790G>A) | |
| 17 | g.4933553A= | CA2244625607 | CHRNE,GP1BA | c.949A= (p.Lys317=) c.-888+789T= (n.-888+789T=) | |
| 17 | g.4933553A>C | CA397319345 | CHRNE,GP1BA | c.949A>C (p.Lys317Gln) c.-888+789T>G (n.-888+789T>G) | |
| 17 | g.4933553A>G | CA397319347 | CHRNE,GP1BA | c.949A>G (p.Lys317Glu) c.-888+789T>C (n.-888+789T>C) | dbSNP |
| 17 | g.4933553A>T | CA397319349 | CHRNE,GP1BA | c.949A>T (p.Lys317Ter) c.-888+789T>A (n.-888+789T>A) | |
| 17 | g.4933554A>C | CA397319350 | CHRNE,GP1BA | c.950A>C (p.Lys317Thr) c.-888+788T>G (n.-888+788T>G) | |
| 17 | g.4933554A>G | CA397319351 | CHRNE,GP1BA | c.950A>G (p.Lys317Arg) c.-888+788T>C (n.-888+788T>C) | |
| 17 | g.4933554A>T | CA397319352 | CHRNE,GP1BA | c.950A>T (p.Lys317Ile) c.-888+788T>A (n.-888+788T>A) | |
| 17 | g.4933555A>C | CA397319355 | CHRNE,GP1BA | c.951A>C (p.Lys317Asn) c.-888+787T>G (n.-888+787T>G) | |
| 17 | g.4933555A>G | CA497678265 | CHRNE,GP1BA | c.951A>G (p.Lys317=) c.-888+787T>C (n.-888+787T>C) | gnomAD v4 |
| 17 | g.4933555A>T | CA397319354 | CHRNE,GP1BA | c.951A>T (p.Lys317Asn) c.-888+787T>A (n.-888+787T>A) | gnomAD v4 |
| 17 | g.4933556del | CA2580610939 | CHRNE,GP1BA | c.952del (p.Ala318ProfsTer17) c.-888+786del (n.-888+786del) | |
| 17 | g.4933556G>A | CA8314865 | CHRNE,GP1BA | c.952G>A (p.Ala318Thr) c.-888+786C>T (n.-888+786C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933556G>C | CA397319357 | CHRNE,GP1BA | c.952G>C (p.Ala318Pro) c.-888+786C>G (n.-888+786C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933556G= | CA2244625608 | CHRNE,GP1BA | c.952G= (p.Ala318=) c.-888+786C= (n.-888+786C=) | |
| 17 | g.4933556G>T | CA397319359 | CHRNE,GP1BA | c.952G>T (p.Ala318Ser) c.-888+786C>A (n.-888+786C>A) | |
| 17 | g.4933557C>A | CA397319361 | CHRNE,GP1BA | c.953C>A (p.Ala318Asp) c.-888+785G>T (n.-888+785G>T) | dbSNP |
| 17 | g.4933557C= | CA2244625609 | CHRNE,GP1BA | c.953C= (p.Ala318=) c.-888+785G= (n.-888+785G=) | |
| 17 | g.4933557C>G | CA397319362 | CHRNE,GP1BA | c.953C>G (p.Ala318Gly) c.-888+785G>C (n.-888+785G>C) | |
| 17 | g.4933557C>T | CA397319363 | CHRNE,GP1BA | c.953C>T (p.Ala318Val) c.-888+785G>A (n.-888+785G>A) | |
| 17 | g.4933558C>A | CA497678270 | CHRNE,GP1BA | c.954C>A (p.Ala318=) c.-888+784G>T (n.-888+784G>T) | |
| 17 | g.4933558C= | CA2244625610 | CHRNE,GP1BA | c.954C= (p.Ala318=) c.-888+784G= (n.-888+784G=) | |
| 17 | g.4933558C>G | CA497678274 | CHRNE,GP1BA | c.954C>G (p.Ala318=) c.-888+784G>C (n.-888+784G>C) | gnomAD v4 |
| 17 | g.4933558C>T | CA8314866 | CHRNE,GP1BA | c.954C>T (p.Ala318=) c.-888+784G>A (n.-888+784G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933559C>A | CA397319365 | CHRNE,GP1BA | c.955C>A (p.His319Asn) c.-888+783G>T (n.-888+783G>T) | |
| 17 | g.4933559C>G | CA397319366 | CHRNE,GP1BA | c.955C>G (p.His319Asp) c.-888+783G>C (n.-888+783G>C) | |
| 17 | g.4933559C>T | CA397319368 | CHRNE,GP1BA | c.955C>T (p.His319Tyr) c.-888+783G>A (n.-888+783G>A) | |
| 17 | g.4933560A>C | CA397319370 | CHRNE,GP1BA | c.956A>C (p.His319Pro) c.-888+782T>G (n.-888+782T>G) | |
| 17 | g.4933560A>G | CA397319371 | CHRNE,GP1BA | c.956A>G (p.His319Arg) c.-888+782T>C (n.-888+782T>C) | |
| 17 | g.4933560A>T | CA397319372 | CHRNE,GP1BA | c.956A>T (p.His319Leu) c.-888+782T>A (n.-888+782T>A) | |
| 17 | g.4933561T>A | CA397319374 | CHRNE,GP1BA | c.957T>A (p.His319Gln) c.-888+781A>T (n.-888+781A>T) | gnomAD v4 |
| 17 | g.4933561T>C | CA497678279 | CHRNE,GP1BA | c.957T>C (p.His319=) c.-888+781A>G (n.-888+781A>G) | gnomAD v4 |
| 17 | g.4933561T>G | CA397319375 | CHRNE,GP1BA | c.957T>G (p.His319Gln) c.-888+781A>C (n.-888+781A>C) | |
| 17 | g.4933562A>C | CA397319377 | CHRNE,GP1BA | c.958A>C (p.Thr320Pro) c.-888+780T>G (n.-888+780T>G) | |
| 17 | g.4933562A>G | CA397319380 | CHRNE,GP1BA | c.958A>G (p.Thr320Ala) c.-888+780T>C (n.-888+780T>C) | |
| 17 | g.4933562A>T | CA397319379 | CHRNE,GP1BA | c.958A>T (p.Thr320Ser) c.-888+780T>A (n.-888+780T>A) | |
| 17 | g.4933563C>A | CA397319381 | CHRNE,GP1BA | c.959C>A (p.Thr320Lys) c.-888+779G>T (n.-888+779G>T) | gnomAD v4 |
| 17 | g.4933563C= | CA2244625611 | CHRNE,GP1BA | c.959C= (p.Thr320=) c.-888+779G= (n.-888+779G=) | |
| 17 | g.4933563C>G | CA397319383 | CHRNE,GP1BA | c.959C>G (p.Thr320Arg) c.-888+779G>C (n.-888+779G>C) | |
| 17 | g.4933563C>T | CA397319385 | CHRNE,GP1BA | c.959C>T (p.Thr320Ile) c.-888+779G>A (n.-888+779G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933564A= | CA2244625612 | CHRNE,GP1BA | c.960A= (p.Thr320=) c.-888+778T= (n.-888+778T=) | |
| 17 | g.4933564A>C | CA8314868 | CHRNE,GP1BA | c.960A>C (p.Thr320=) c.-888+778T>G (n.-888+778T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933564A>G | CA8314867 | CHRNE,GP1BA | c.960A>G (p.Thr320=) c.-888+778T>C (n.-888+778T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933564A>T | CA497678283 | CHRNE,GP1BA | c.960A>T (p.Thr320=) c.-888+778T>A (n.-888+778T>A) | |
| 17 | g.4933565A= | CA2244625613 | CHRNE,GP1BA | c.961A= (p.Thr321=) c.-888+777T= (n.-888+777T=) | |
| 17 | g.4933565A>C | CA397319388 | CHRNE,GP1BA | c.961A>C (p.Thr321Pro) c.-888+777T>G (n.-888+777T>G) | dbSNP |
| 17 | g.4933565A>G | CA8314869 | CHRNE,GP1BA | c.961A>G (p.Thr321Ala) c.-888+777T>C (n.-888+777T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933565A>T | CA397319390 | CHRNE,GP1BA | c.961A>T (p.Thr321Ser) c.-888+777T>A (n.-888+777T>A) | |
| 17 | g.4933566C>A | CA397319391 | CHRNE,GP1BA | c.962C>A (p.Thr321Asn) c.-888+776G>T (n.-888+776G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933566C= | CA2244625614 | CHRNE,GP1BA | c.962C= (p.Thr321=) c.-888+776G= (n.-888+776G=) | |
| 17 | g.4933566C>G | CA397319393 | CHRNE,GP1BA | c.962C>G (p.Thr321Ser) c.-888+776G>C (n.-888+776G>C) | |
| 17 | g.4933566C>T | CA397319394 | CHRNE,GP1BA | c.962C>T (p.Thr321Ile) c.-888+776G>A (n.-888+776G>A) | |
| 17 | g.4933570dup | CA2502628547 | CHRNE,GP1BA | c.966dup (p.Trp323LeufsTer28) c.-888+776dup (n.-888+776dup) | |
| 17 | g.4933567C>A | CA8314870 | CHRNE,GP1BA | c.963C>A (p.Thr321=) c.-888+775G>T (n.-888+775G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933567C= | CA2244625615 | CHRNE,GP1BA | c.963C= (p.Thr321=) c.-888+775G= (n.-888+775G=) | |
| 17 | g.4933567C>G | CA497678290 | CHRNE,GP1BA | c.963C>G (p.Thr321=) c.-888+775G>C (n.-888+775G>C) | |
| 17 | g.4933567C>T | CA8314871 | CHRNE,GP1BA | c.963C>T (p.Thr321=) c.-888+775G>A (n.-888+775G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933568C>A | CA397319396 | CHRNE,GP1BA | c.964C>A (p.Pro322Thr) c.-888+774G>T (n.-888+774G>T) | |
| 17 | g.4933568C= | CA2244625616 | CHRNE,GP1BA | c.964C= (p.Pro322=) c.-888+774G= (n.-888+774G=) | |
| 17 | g.4933568C>G | CA397319398 | CHRNE,GP1BA | c.964C>G (p.Pro322Ala) c.-888+774G>C (n.-888+774G>C) | |
| 17 | g.4933568C>T | CA8314872 | CHRNE,GP1BA | c.964C>T (p.Pro322Ser) c.-888+774G>A (n.-888+774G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933569C>A | CA397319400 | CHRNE,GP1BA | c.965C>A (p.Pro322His) c.-888+773G>T (n.-888+773G>T) | |
| 17 | g.4933569C>G | CA397319401 | CHRNE,GP1BA | c.965C>G (p.Pro322Arg) c.-888+773G>C (n.-888+773G>C) | |
| 17 | g.4933569C>T | CA397319402 | CHRNE,GP1BA | c.965C>T (p.Pro322Leu) c.-888+773G>A (n.-888+773G>A) | |
| 17 | g.4933570C>A | CA497678293 | CHRNE,GP1BA | c.966C>A (p.Pro322=) c.-888+772G>T (n.-888+772G>T) | |
| 17 | g.4933570C= | CA2244625617 | CHRNE,GP1BA | c.966C= (p.Pro322=) c.-888+772G= (n.-888+772G=) | |
| 17 | g.4933570C>G | CA497678295 | CHRNE,GP1BA | c.966C>G (p.Pro322=) c.-888+772G>C (n.-888+772G>C) | gnomAD v4 |
| 17 | g.4933570C>T | CA8314873 | CHRNE,GP1BA | c.966C>T (p.Pro322=) c.-888+772G>A (n.-888+772G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933571T>A | CA397319404 | CHRNE,GP1BA | c.967T>A (p.Trp323Arg) c.-888+771A>T (n.-888+771A>T) | |
| 17 | g.4933571T>C | CA8314874 | CHRNE,GP1BA | c.967T>C (p.Trp323Arg) c.-888+771A>G (n.-888+771A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933571T>G | CA397319405 | CHRNE,GP1BA | c.967T>G (p.Trp323Gly) c.-888+771A>C (n.-888+771A>C) | |
| 17 | g.4933571T= | CA2244625618 | CHRNE,GP1BA | c.967T= (p.Trp323=) c.-888+771A= (n.-888+771A=) | |
| 17 | g.4933572G>A | CA397319407 | CHRNE,GP1BA | c.968G>A (p.Trp323Ter) c.-888+770C>T (n.-888+770C>T) | gnomAD v4 |
| 17 | g.4933572G>C | CA397319409 | CHRNE,GP1BA | c.968G>C (p.Trp323Ser) c.-888+770C>G (n.-888+770C>G) | |
| 17 | g.4933572G>T | CA397319410 | CHRNE,GP1BA | c.968G>T (p.Trp323Leu) c.-888+770C>A (n.-888+770C>A) | |
| 17 | g.4933573G>A | CA397319416 | CHRNE,GP1BA | c.969G>A (p.Trp323Ter) c.-888+769C>T (n.-888+769C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933573G>C | CA397319414 | CHRNE,GP1BA | c.969G>C (p.Trp323Cys) c.-888+769C>G (n.-888+769C>G) | gnomAD v4 |
| 17 | g.4933573G= | CA2244625619 | CHRNE,GP1BA | c.969G= (p.Trp323=) c.-888+769C= (n.-888+769C=) | |
| 17 | g.4933573G>T | CA397319412 | CHRNE,GP1BA | c.969G>T (p.Trp323Cys) c.-888+769C>A (n.-888+769C>A) | |
| 17 | g.4933574G>A | CA397319417 | CHRNE,GP1BA | c.970G>A (p.Gly324Ser) c.-888+768C>T (n.-888+768C>T) | |
| 17 | g.4933574G>C | CA397319419 | CHRNE,GP1BA | c.970G>C (p.Gly324Arg) c.-888+768C>G (n.-888+768C>G) | |
| 17 | g.4933574G>T | CA397319420 | CHRNE,GP1BA | c.970G>T (p.Gly324Cys) c.-888+768C>A (n.-888+768C>A) | |
| 17 | g.4933575G>A | CA397319422 | CHRNE,GP1BA | c.971G>A (p.Gly324Asp) c.-888+767C>T (n.-888+767C>T) | gnomAD v4 |
| 17 | g.4933575G>C | CA397319424 | CHRNE,GP1BA | c.971G>C (p.Gly324Ala) c.-888+767C>G (n.-888+767C>G) | |
| 17 | g.4933575G>T | CA397319425 | CHRNE,GP1BA | c.971G>T (p.Gly324Val) c.-888+767C>A (n.-888+767C>A) | gnomAD v4 |
| 17 | g.4933576T>A | CA497678306 | CHRNE,GP1BA | c.972T>A (p.Gly324=) c.-888+766A>T (n.-888+766A>T) | |
| 17 | g.4933576T>C | CA497678307 | CHRNE,GP1BA | c.972T>C (p.Gly324=) c.-888+766A>G (n.-888+766A>G) | |
| 17 | g.4933576T>G | CA497678308 | CHRNE,GP1BA | c.972T>G (p.Gly324=) c.-888+766A>C (n.-888+766A>C) | |
| 17 | g.4933577C>A | CA397319428 | CHRNE,GP1BA | c.973C>A (p.Leu325Ile) c.-888+765G>T (n.-888+765G>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933577C= | CA2244625620 | CHRNE,GP1BA | c.973C= (p.Leu325=) c.-888+765G= (n.-888+765G=) | |
| 17 | g.4933577C>G | CA397319427 | CHRNE,GP1BA | c.973C>G (p.Leu325Val) c.-888+765G>C (n.-888+765G>C) | |
| 17 | g.4933577C>T | CA497678311 | CHRNE,GP1BA | c.973C>T (p.Leu325=) c.-888+765G>A (n.-888+765G>A) | |
| 17 | g.4933578T>A | CA397319430 | CHRNE,GP1BA | c.974T>A (p.Leu325Gln) c.-888+764A>T (n.-888+764A>T) | |
| 17 | g.4933578T>C | CA397319432 | CHRNE,GP1BA | c.974T>C (p.Leu325Pro) c.-888+764A>G (n.-888+764A>G) | |
| 17 | g.4933578T>G | CA397319433 | CHRNE,GP1BA | c.974T>G (p.Leu325Arg) c.-888+764A>C (n.-888+764A>C) | |
| 17 | g.4933579A>C | CA497678312 | CHRNE,GP1BA | c.975A>C (p.Leu325=) c.-888+763T>G (n.-888+763T>G) | |
| 17 | g.4933579A>G | CA497678315 | CHRNE,GP1BA | c.975A>G (p.Leu325=) c.-888+763T>C (n.-888+763T>C) | gnomAD v4 |
| 17 | g.4933579A>T | CA497678318 | CHRNE,GP1BA | c.975A>T (p.Leu325=) c.-888+763T>A (n.-888+763T>A) | |
| 17 | g.4933580T>A | CA397319435 | CHRNE,GP1BA | c.976T>A (p.Phe326Ile) c.-888+762A>T (n.-888+762A>T) | |
| 17 | g.4933580T>C | CA397319437 | CHRNE,GP1BA | c.976T>C (p.Phe326Leu) c.-888+762A>G (n.-888+762A>G) | gnomAD v4 |
| 17 | g.4933580T>G | CA397319438 | CHRNE,GP1BA | c.976T>G (p.Phe326Val) c.-888+762A>C (n.-888+762A>C) | |
| 17 | g.4933581T>A | CA397319439 | CHRNE,GP1BA | c.977T>A (p.Phe326Tyr) c.-888+761A>T (n.-888+761A>T) | |
| 17 | g.4933581T>C | CA8314875 | CHRNE,GP1BA | c.977T>C (p.Phe326Ser) c.-888+761A>G (n.-888+761A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933581T>G | CA397319440 | CHRNE,GP1BA | c.977T>G (p.Phe326Cys) c.-888+761A>C (n.-888+761A>C) | gnomAD v4 |
| 17 | g.4933581T= | CA2244625621 | CHRNE,GP1BA | c.977T= (p.Phe326=) c.-888+761A= (n.-888+761A=) | |
| 17 | g.4933582C>A | CA397319442 | CHRNE,GP1BA | c.978C>A (p.Phe326Leu) c.-888+760G>T (n.-888+760G>T) | |
| 17 | g.4933582C>G | CA397319444 | CHRNE,GP1BA | c.978C>G (p.Phe326Leu) c.-888+760G>C (n.-888+760G>C) | |
| 17 | g.4933582C>T | CA497678324 | CHRNE,GP1BA | c.978C>T (p.Phe326=) c.-888+760G>A (n.-888+760G>A) | |
| 17 | g.4933583T>A | CA8314876 | CHRNE,GP1BA | c.979T>A (p.Tyr327Asn) c.-888+759A>T (n.-888+759A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933583T>C | CA397319446 | CHRNE,GP1BA | c.979T>C (p.Tyr327His) c.-888+759A>G (n.-888+759A>G) | |
| 17 | g.4933583T>G | CA397319448 | CHRNE,GP1BA | c.979T>G (p.Tyr327Asp) c.-888+759A>C (n.-888+759A>C) | |
| 17 | g.4933583T= | CA2244625622 | CHRNE,GP1BA | c.979T= (p.Tyr327=) c.-888+759A= (n.-888+759A=) | |
| 17 | g.4933584A>C | CA397319450 | CHRNE,GP1BA | c.980A>C (p.Tyr327Ser) c.-888+758T>G (n.-888+758T>G) | |
| 17 | g.4933584A>G | CA397319452 | CHRNE,GP1BA | c.980A>G (p.Tyr327Cys) c.-888+758T>C (n.-888+758T>C) | gnomAD v3 gnomAD v4 |
| 17 | g.4933584A>T | CA397319453 | CHRNE,GP1BA | c.980A>T (p.Tyr327Phe) c.-888+758T>A (n.-888+758T>A) | |
| 17 | g.4933585C>A | CA397319455 | CHRNE,GP1BA | c.981C>A (p.Tyr327Ter) c.-888+757G>T (n.-888+757G>T) | |
| 17 | g.4933585C>G | CA397319458 | CHRNE,GP1BA | c.981C>G (p.Tyr327Ter) c.-888+757G>C (n.-888+757G>C) | |
| 17 | g.4933585C>T | CA497678325 | CHRNE,GP1BA | c.981C>T (p.Tyr327=) c.-888+757G>A (n.-888+757G>A) | |
| 17 | g.4933586T>A | CA397319461 | CHRNE,GP1BA | c.982T>A (p.Ser328Thr) c.-888+756A>T (n.-888+756A>T) | |
| 17 | g.4933586T>C | CA397319464 | CHRNE,GP1BA | c.982T>C (p.Ser328Pro) c.-888+756A>G (n.-888+756A>G) | gnomAD v4 |
| 17 | g.4933586T>G | CA397319462 | CHRNE,GP1BA | c.982T>G (p.Ser328Ala) c.-888+756A>C (n.-888+756A>C) | |
| 17 | g.4933587C>A | CA397319466 | CHRNE,GP1BA | c.983C>A (p.Ser328Ter) c.-888+755G>T (n.-888+755G>T) | gnomAD v4 |
| 17 | g.4933587C= | CA2244625623 | CHRNE,GP1BA | c.983C= (p.Ser328=) c.-888+755G= (n.-888+755G=) | |
| 17 | g.4933587C>G | CA397319469 | CHRNE,GP1BA | c.983C>G (p.Ser328Ter) c.-888+755G>C (n.-888+755G>C) | |
| 17 | g.4933587C>T | CA397319468 | CHRNE,GP1BA | c.983C>T (p.Ser328Leu) c.-888+755G>A (n.-888+755G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933588A= | CA2244625624 | CHRNE,GP1BA | c.984A= (p.Ser328=) c.-888+754T= (n.-888+754T=) | |
| 17 | g.4933588A>C | CA497678329 | CHRNE,GP1BA | c.984A>C (p.Ser328=) c.-888+754T>G (n.-888+754T>G) | |
| 17 | g.4933588A>G | CA497678330 | CHRNE,GP1BA | c.984A>G (p.Ser328=) c.-888+754T>C (n.-888+754T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933588A>T | CA497678331 | CHRNE,GP1BA | c.984A>T (p.Ser328=) c.-888+754T>A (n.-888+754T>A) |