Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4932905T>ACA287215913CHRNE,GP1BAc.301T>A (p.Ser101Thr)
c.-888+1437A>T (n.-888+1437A>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4932905T>CCA8314737CHRNE,GP1BAc.301T>C (p.Ser101Pro)
c.-888+1437A>G (n.-888+1437A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932905T>GCA397315727CHRNE,GP1BAc.301T>G (p.Ser101Ala)
c.-888+1437A>C (n.-888+1437A>C)
17g.4932905T=CA2244625353CHRNE,GP1BAc.301T= (p.Ser101=)
c.-888+1437A= (n.-888+1437A=)
17g.4932906C>ACA397315736CHRNE,GP1BAc.302C>A (p.Ser101Tyr)
c.-888+1436G>T (n.-888+1436G>T)
17g.4932906C>GCA397315734CHRNE,GP1BAc.302C>G (p.Ser101Cys)
c.-888+1436G>C (n.-888+1436G>C)
17g.4932906C>TCA397315731CHRNE,GP1BAc.302C>T (p.Ser101Phe)
c.-888+1436G>A (n.-888+1436G>A)
 gnomAD v4
17g.4932907C>ACA287215925CHRNE,GP1BAc.303C>A (p.Ser101=)
c.-888+1435G>T (n.-888+1435G>T)
 dbSNP
17g.4932907C=CA2244625354CHRNE,GP1BAc.303C= (p.Ser101=)
c.-888+1435G= (n.-888+1435G=)
17g.4932907C>GCA497677583CHRNE,GP1BAc.303C>G (p.Ser101=)
c.-888+1435G>C (n.-888+1435G>C)
17g.4932907C>TCA497677586CHRNE,GP1BAc.303C>T (p.Ser101=)
c.-888+1435G>A (n.-888+1435G>A)
17g.4932908C>ACA8314738CHRNE,GP1BAc.304C>A (p.His102Asn)
c.-888+1434G>T (n.-888+1434G>T)
 dbSNP ExAC
17g.4932908C=CA2244625355CHRNE,GP1BAc.304C= (p.His102=)
c.-888+1434G= (n.-888+1434G=)
17g.4932908C>GCA397315740CHRNE,GP1BAc.304C>G (p.His102Asp)
c.-888+1434G>C (n.-888+1434G>C)
17g.4932908C>TCA397315742CHRNE,GP1BAc.304C>T (p.His102Tyr)
c.-888+1434G>A (n.-888+1434G>A)
17g.4932909_4932910insAAAAACCAAACACACCCAACACA2808297072CHRNE,GP1BAc.305_306insAAAAACCAAACACACCCAACA (p.Ser101_His102insGlnLysThrLysHisThrGln)
c.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG (n.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG)
17g.4932909A>CCA397315746CHRNE,GP1BAc.305A>C (p.His102Pro)
c.-888+1433T>G (n.-888+1433T>G)
17g.4932909A>GCA397315750CHRNE,GP1BAc.305A>G (p.His102Arg)
c.-888+1433T>C (n.-888+1433T>C)
17g.4932909A>TCA397315753CHRNE,GP1BAc.305A>T (p.His102Leu)
c.-888+1433T>A (n.-888+1433T>A)
17g.4932910C>ACA397315755CHRNE,GP1BAc.306C>A (p.His102Gln)
c.-888+1432G>T (n.-888+1432G>T)
 dbSNP gnomAD v4
17g.4932910C=CA2244625356CHRNE,GP1BAc.306C= (p.His102=)
c.-888+1432G= (n.-888+1432G=)
17g.4932910C>GCA397315757CHRNE,GP1BAc.306C>G (p.His102Gln)
c.-888+1432G>C (n.-888+1432G>C)
17g.4932910C>TCA497677591CHRNE,GP1BAc.306C>T (p.His102=)
c.-888+1432G>A (n.-888+1432G>A)
 gnomAD v4
17g.4932911A>CCA397315759CHRNE,GP1BAc.307A>C (p.Asn103His)
c.-888+1431T>G (n.-888+1431T>G)
17g.4932911A>GCA397315763CHRNE,GP1BAc.307A>G (p.Asn103Asp)
c.-888+1431T>C (n.-888+1431T>C)
 gnomAD v4
17g.4932911A>TCA397315766CHRNE,GP1BAc.307A>T (p.Asn103Tyr)
c.-888+1431T>A (n.-888+1431T>A)
17g.4932912A>CCA397315769CHRNE,GP1BAc.308A>C (p.Asn103Thr)
c.-888+1430T>G (n.-888+1430T>G)
17g.4932912A>GCA397315770CHRNE,GP1BAc.308A>G (p.Asn103Ser)
c.-888+1430T>C (n.-888+1430T>C)
 ClinVar dbSNP
17g.4932912A>TCA397315772CHRNE,GP1BAc.308A>T (p.Asn103Ile)
c.-888+1430T>A (n.-888+1430T>A)
17g.4932913T>ACA397315777CHRNE,GP1BAc.309T>A (p.Asn103Lys)
c.-888+1429A>T (n.-888+1429A>T)
17g.4932913T>CCA497677592CHRNE,GP1BAc.309T>C (p.Asn103=)
c.-888+1429A>G (n.-888+1429A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4932913T>GCA397315776CHRNE,GP1BAc.309T>G (p.Asn103Lys)
c.-888+1429A>C (n.-888+1429A>C)
17g.4932913T=CA2244625357CHRNE,GP1BAc.309T= (p.Asn103=)
c.-888+1429A= (n.-888+1429A=)
17g.4932914C>ACA397315778CHRNE,GP1BAc.310C>A (p.Gln104Lys)
c.-888+1428G>T (n.-888+1428G>T)
17g.4932914C>GCA397315779CHRNE,GP1BAc.310C>G (p.Gln104Glu)
c.-888+1428G>C (n.-888+1428G>C)
 COSMIC
17g.4932914C>TCA397315782CHRNE,GP1BAc.310C>T (p.Gln104Ter)
c.-888+1428G>A (n.-888+1428G>A)
17g.4932915A>CCA397315783CHRNE,GP1BAc.311A>C (p.Gln104Pro)
c.-888+1427T>G (n.-888+1427T>G)
17g.4932915A>GCA397315789CHRNE,GP1BAc.311A>G (p.Gln104Arg)
c.-888+1427T>C (n.-888+1427T>C)
17g.4932915A>TCA397315791CHRNE,GP1BAc.311A>T (p.Gln104Leu)
c.-888+1427T>A (n.-888+1427T>A)
17g.4932916G>ACA497677599CHRNE,GP1BAc.312G>A (p.Gln104=)
c.-888+1426C>T (n.-888+1426C>T)
 gnomAD v4
17g.4932916G>CCA397315795CHRNE,GP1BAc.312G>C (p.Gln104His)
c.-888+1426C>G (n.-888+1426C>G)
17g.4932916G>TCA397315794CHRNE,GP1BAc.312G>T (p.Gln104His)
c.-888+1426C>A (n.-888+1426C>A)
17g.4932917C>ACA397315797CHRNE,GP1BAc.313C>A (p.Leu105Met)
c.-888+1425G>T (n.-888+1425G>T)
17g.4932917C>GCA397315798CHRNE,GP1BAc.313C>G (p.Leu105Val)
c.-888+1425G>C (n.-888+1425G>C)
17g.4932917C>TCA497677603CHRNE,GP1BAc.313C>T (p.Leu105=)
c.-888+1425G>A (n.-888+1425G>A)
17g.4932921_4932929delCA2695224142CHRNE,GP1BAc.317_325del (p.Gln106_Leu108del)
c.-888+1417_-888+1425del (n.-888+1417_-888+1425del)
17g.4932918T>ACA397315801CHRNE,GP1BAc.314T>A (p.Leu105Gln)
c.-888+1424A>T (n.-888+1424A>T)
17g.4932918T>CCA397315805CHRNE,GP1BAc.314T>C (p.Leu105Pro)
c.-888+1424A>G (n.-888+1424A>G)
17g.4932918T>GCA397315809CHRNE,GP1BAc.314T>G (p.Leu105Arg)
c.-888+1424A>C (n.-888+1424A>C)
17g.4932919G>ACA8314739CHRNE,GP1BAc.315G>A (p.Leu105=)
c.-888+1423C>T (n.-888+1423C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932919G>CCA287215940CHRNE,GP1BAc.315G>C (p.Leu105=)
c.-888+1423C>G (n.-888+1423C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4932919G=CA2244625358CHRNE,GP1BAc.315G= (p.Leu105=)
c.-888+1423C= (n.-888+1423C=)
17g.4932919G>TCA497677606CHRNE,GP1BAc.315G>T (p.Leu105=)
c.-888+1423C>A (n.-888+1423C>A)
17g.4932920C>ACA397315815CHRNE,GP1BAc.316C>A (p.Gln106Lys)
c.-888+1422G>T (n.-888+1422G>T)
 COSMIC
17g.4932920C=CA2244625359CHRNE,GP1BAc.316C= (p.Gln106=)
c.-888+1422G= (n.-888+1422G=)
17g.4932920C>GCA397315822CHRNE,GP1BAc.316C>G (p.Gln106Glu)
c.-888+1422G>C (n.-888+1422G>C)
 ClinVar dbSNP
17g.4932920C>TCA397315818CHRNE,GP1BAc.316C>T (p.Gln106Ter)
c.-888+1422G>A (n.-888+1422G>A)
 gnomAD v4
17g.4932921A>CCA397315825CHRNE,GP1BAc.317A>C (p.Gln106Pro)
c.-888+1421T>G (n.-888+1421T>G)
17g.4932921A>GCA397315828CHRNE,GP1BAc.317A>G (p.Gln106Arg)
c.-888+1421T>C (n.-888+1421T>C)
17g.4932921A>TCA397315831CHRNE,GP1BAc.317A>T (p.Gln106Leu)
c.-888+1421T>A (n.-888+1421T>A)
17g.4932922A>CCA397315833CHRNE,GP1BAc.318A>C (p.Gln106His)
c.-888+1420T>G (n.-888+1420T>G)
17g.4932922A>GCA497677612CHRNE,GP1BAc.318A>G (p.Gln106=)
c.-888+1420T>C (n.-888+1420T>C)
17g.4932922A>TCA397315834CHRNE,GP1BAc.318A>T (p.Gln106His)
c.-888+1420T>A (n.-888+1420T>A)
17g.4932923A=CA2244625360CHRNE,GP1BAc.319A= (p.Ser107=)
c.-888+1419T= (n.-888+1419T=)
17g.4932923A>CCA397315837CHRNE,GP1BAc.319A>C (p.Ser107Arg)
c.-888+1419T>G (n.-888+1419T>G)
17g.4932923A>GCA397315840CHRNE,GP1BAc.319A>G (p.Ser107Gly)
c.-888+1419T>C (n.-888+1419T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4932923A>TCA397315841CHRNE,GP1BAc.319A>T (p.Ser107Cys)
c.-888+1419T>A (n.-888+1419T>A)
17g.4932924G>ACA397315842CHRNE,GP1BAc.320G>A (p.Ser107Asn)
c.-888+1418C>T (n.-888+1418C>T)
17g.4932924G>CCA397315844CHRNE,GP1BAc.320G>C (p.Ser107Thr)
c.-888+1418C>G (n.-888+1418C>G)
17g.4932924G>TCA397315846CHRNE,GP1BAc.320G>T (p.Ser107Ile)
c.-888+1418C>A (n.-888+1418C>A)
17g.4932925C>ACA397315848CHRNE,GP1BAc.321C>A (p.Ser107Arg)
c.-888+1417G>T (n.-888+1417G>T)
17g.4932925C=CA2244625361CHRNE,GP1BAc.321C= (p.Ser107=)
c.-888+1417G= (n.-888+1417G=)
17g.4932925C>GCA8314740CHRNE,GP1BAc.321C>G (p.Ser107Arg)
c.-888+1417G>C (n.-888+1417G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932925C>TCA497677617CHRNE,GP1BAc.321C>T (p.Ser107=)
c.-888+1417G>A (n.-888+1417G>A)
 ClinVar
17g.4932926C>ACA397315852CHRNE,GP1BAc.322C>A (p.Leu108Met)
c.-888+1416G>T (n.-888+1416G>T)
17g.4932926C>GCA397315853CHRNE,GP1BAc.322C>G (p.Leu108Val)
c.-888+1416G>C (n.-888+1416G>C)
17g.4932926C>TCA497677622CHRNE,GP1BAc.322C>T (p.Leu108=)
c.-888+1416G>A (n.-888+1416G>A)
 gnomAD v4
17g.4932927T>ACA397315857CHRNE,GP1BAc.323T>A (p.Leu108Gln)
c.-888+1415A>T (n.-888+1415A>T)
 dbSNP
17g.4932927T>CCA397315860CHRNE,GP1BAc.323T>C (p.Leu108Pro)
c.-888+1415A>G (n.-888+1415A>G)
17g.4932927T>GCA397315862CHRNE,GP1BAc.323T>G (p.Leu108Arg)
c.-888+1415A>C (n.-888+1415A>C)
17g.4932927T=CA2244625362CHRNE,GP1BAc.323T= (p.Leu108=)
c.-888+1415A= (n.-888+1415A=)
17g.4932928G>ACA8314741CHRNE,GP1BAc.324G>A (p.Leu108=)
c.-888+1414C>T (n.-888+1414C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932928G>CCA497677625CHRNE,GP1BAc.324G>C (p.Leu108=)
c.-888+1414C>G (n.-888+1414C>G)
17g.4932928G=CA2244625363CHRNE,GP1BAc.324G= (p.Leu108=)
c.-888+1414C= (n.-888+1414C=)
17g.4932928G>TCA497677627CHRNE,GP1BAc.324G>T (p.Leu108=)
c.-888+1414C>A (n.-888+1414C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4932929C>ACA397315868CHRNE,GP1BAc.325C>A (p.Pro109Thr)
c.-888+1413G>T (n.-888+1413G>T)
 ClinVar dbSNP gnomAD v4
17g.4932929C>GCA397315873CHRNE,GP1BAc.325C>G (p.Pro109Ala)
c.-888+1413G>C (n.-888+1413G>C)
17g.4932929C>TCA397315878CHRNE,GP1BAc.325C>T (p.Pro109Ser)
c.-888+1413G>A (n.-888+1413G>A)
17g.4932930C>ACA397315888CHRNE,GP1BAc.326C>A (p.Pro109His)
c.-888+1412G>T (n.-888+1412G>T)
17g.4932930C>GCA397315890CHRNE,GP1BAc.326C>G (p.Pro109Arg)
c.-888+1412G>C (n.-888+1412G>C)
17g.4932930C>TCA397315892CHRNE,GP1BAc.326C>T (p.Pro109Leu)
c.-888+1412G>A (n.-888+1412G>A)
 COSMIC
17g.4932931_4932935delCA2635578683CHRNE,GP1BAc.327_331del (p.Leu110ArgfsTer?)
c.-888+1408_-888+1412del (n.-888+1408_-888+1412del)
 gnomAD v4
17g.4932931C>ACA497677632CHRNE,GP1BAc.327C>A (p.Pro109=)
c.-888+1411G>T (n.-888+1411G>T)
17g.4932931C>GCA497677634CHRNE,GP1BAc.327C>G (p.Pro109=)
c.-888+1411G>C (n.-888+1411G>C)
17g.4932931C>TCA497677635CHRNE,GP1BAc.327C>T (p.Pro109=)
c.-888+1411G>A (n.-888+1411G>A)
 dbSNP
17g.4932932T>ACA397315895CHRNE,GP1BAc.328T>A (p.Leu110Met)
c.-888+1410A>T (n.-888+1410A>T)
17g.4932932T>CCA497677637CHRNE,GP1BAc.328T>C (p.Leu110=)
c.-888+1410A>G (n.-888+1410A>G)
17g.4932932T>GCA397315898CHRNE,GP1BAc.328T>G (p.Leu110Val)
c.-888+1410A>C (n.-888+1410A>C)
17g.4932933T>ACA397315917CHRNE,GP1BAc.329T>A (p.Leu110Ter)
c.-888+1409A>T (n.-888+1409A>T)
 gnomAD v4
17g.4932933T>CCA397315925CHRNE,GP1BAc.329T>C (p.Leu110Ser)
c.-888+1409A>G (n.-888+1409A>G)
17g.4932933T>GCA397315915CHRNE,GP1BAc.329T>G (p.Leu110Trp)
c.-888+1409A>C (n.-888+1409A>C)
17g.4932934G>ACA8314742CHRNE,GP1BAc.330G>A (p.Leu110=)
c.-888+1408C>T (n.-888+1408C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932934G>CCA397315931CHRNE,GP1BAc.330G>C (p.Leu110Phe)
c.-888+1408C>G (n.-888+1408C>G)
 gnomAD v4
17g.4932934G=CA2244625364CHRNE,GP1BAc.330G= (p.Leu110=)
c.-888+1408C= (n.-888+1408C=)
17g.4932934G>TCA397315929CHRNE,GP1BAc.330G>T (p.Leu110Phe)
c.-888+1408C>A (n.-888+1408C>A)
17g.4932935C>ACA397315933CHRNE,GP1BAc.331C>A (p.Leu111Ile)
c.-888+1407G>T (n.-888+1407G>T)
17g.4932935C=CA2244625365CHRNE,GP1BAc.331C= (p.Leu111=)
c.-888+1407G= (n.-888+1407G=)
17g.4932935C>GCA8314743CHRNE,GP1BAc.331C>G (p.Leu111Val)
c.-888+1407G>C (n.-888+1407G>C)
 dbSNP ExAC gnomAD v2
17g.4932935C>TCA497677639CHRNE,GP1BAc.331C>T (p.Leu111=)
c.-888+1407G>A (n.-888+1407G>A)
17g.4932936T>ACA397315938CHRNE,GP1BAc.332T>A (p.Leu111Gln)
c.-888+1406A>T (n.-888+1406A>T)
 gnomAD v4
17g.4932936T>CCA397315947CHRNE,GP1BAc.332T>C (p.Leu111Pro)
c.-888+1406A>G (n.-888+1406A>G)
17g.4932936T>GCA397315941CHRNE,GP1BAc.332T>G (p.Leu111Arg)
c.-888+1406A>C (n.-888+1406A>C)
17g.4932937A>CCA497677641CHRNE,GP1BAc.333A>C (p.Leu111=)
c.-888+1405T>G (n.-888+1405T>G)
17g.4932937A>GCA497677643CHRNE,GP1BAc.333A>G (p.Leu111=)
c.-888+1405T>C (n.-888+1405T>C)
17g.4932937A>TCA497677645CHRNE,GP1BAc.333A>T (p.Leu111=)
c.-888+1405T>A (n.-888+1405T>A)
17g.4932938G>ACA8314744CHRNE,GP1BAc.334G>A (p.Gly112Arg)
c.-888+1404C>T (n.-888+1404C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932938G>CCA8314745CHRNE,GP1BAc.334G>C (p.Gly112Arg)
c.-888+1404C>G (n.-888+1404C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932938G=CA2244625366CHRNE,GP1BAc.334G= (p.Gly112=)
c.-888+1404C= (n.-888+1404C=)
17g.4932938G>TCA397315953CHRNE,GP1BAc.334G>T (p.Gly112Trp)
c.-888+1404C>A (n.-888+1404C>A)
17g.4932939_4932940delCA2635578684CHRNE,GP1BAc.335_336del (p.Gly112AlafsTer?)
c.-888+1403_-888+1404del (n.-888+1403_-888+1404del)
 gnomAD v4
17g.4932939G>ACA397315958CHRNE,GP1BAc.335G>A (p.Gly112Glu)
c.-888+1403C>T (n.-888+1403C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4932939G>CCA397315961CHRNE,GP1BAc.335G>C (p.Gly112Ala)
c.-888+1403C>G (n.-888+1403C>G)
17g.4932939G=CA2244625367CHRNE,GP1BAc.335G= (p.Gly112=)
c.-888+1403C= (n.-888+1403C=)
17g.4932939G>TCA397315963CHRNE,GP1BAc.335G>T (p.Gly112Val)
c.-888+1403C>A (n.-888+1403C>A)
17g.4932940G>ACA497677648CHRNE,GP1BAc.336G>A (p.Gly112=)
c.-888+1402C>T (n.-888+1402C>T)
 COSMIC
17g.4932940G>CCA497677649CHRNE,GP1BAc.336G>C (p.Gly112=)
c.-888+1402C>G (n.-888+1402C>G)
17g.4932940G=CA2244625368CHRNE,GP1BAc.336G= (p.Gly112=)
c.-888+1402C= (n.-888+1402C=)
17g.4932940G>TCA8314746CHRNE,GP1BAc.336G>T (p.Gly112=)
c.-888+1402C>A (n.-888+1402C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932941C>ACA397315968CHRNE,GP1BAc.337C>A (p.Gln113Lys)
c.-888+1401G>T (n.-888+1401G>T)
17g.4932941C=CA2244625369CHRNE,GP1BAc.337C= (p.Gln113=)
c.-888+1401G= (n.-888+1401G=)
17g.4932941C>GCA397315970CHRNE,GP1BAc.337C>G (p.Gln113Glu)
c.-888+1401G>C (n.-888+1401G>C)
17g.4932941C>TCA8314747CHRNE,GP1BAc.337C>T (p.Gln113Ter)
c.-888+1401G>A (n.-888+1401G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932942A>CCA397315987CHRNE,GP1BAc.338A>C (p.Gln113Pro)
c.-888+1400T>G (n.-888+1400T>G)
17g.4932942A>GCA397315975CHRNE,GP1BAc.338A>G (p.Gln113Arg)
c.-888+1400T>C (n.-888+1400T>C)
17g.4932942A>TCA397315982CHRNE,GP1BAc.338A>T (p.Gln113Leu)
c.-888+1400T>A (n.-888+1400T>A)
17g.4932943G>ACA497677651CHRNE,GP1BAc.339G>A (p.Gln113=)
c.-888+1399C>T (n.-888+1399C>T)
17g.4932943G>CCA397315989CHRNE,GP1BAc.339G>C (p.Gln113His)
c.-888+1399C>G (n.-888+1399C>G)
17g.4932943G>TCA397315992CHRNE,GP1BAc.339G>T (p.Gln113His)
c.-888+1399C>A (n.-888+1399C>A)
17g.4932943_4932944insGACA2695224143CHRNE,GP1BAc.339_340insGA (p.Thr114GlufsTer16)
c.-888+1398_-888+1399insTC (n.-888+1398_-888+1399insTC)
17g.4932944A>CCA397315996CHRNE,GP1BAc.340A>C (p.Thr114Pro)
c.-888+1398T>G (n.-888+1398T>G)
17g.4932944A>GCA397315999CHRNE,GP1BAc.340A>G (p.Thr114Ala)
c.-888+1398T>C (n.-888+1398T>C)
 gnomAD v4
17g.4932944A>TCA397316001CHRNE,GP1BAc.340A>T (p.Thr114Ser)
c.-888+1398T>A (n.-888+1398T>A)
17g.4932945C>ACA397316005CHRNE,GP1BAc.341C>A (p.Thr114Lys)
c.-888+1397G>T (n.-888+1397G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4932945C=CA2244625370CHRNE,GP1BAc.341C= (p.Thr114=)
c.-888+1397G= (n.-888+1397G=)
17g.4932945C>GCA397316008CHRNE,GP1BAc.341C>G (p.Thr114Arg)
c.-888+1397G>C (n.-888+1397G>C)
17g.4932945C>TCA8314748CHRNE,GP1BAc.341C>T (p.Thr114Ile)
c.-888+1397G>A (n.-888+1397G>A)
 dbSNP ExAC gnomAD v2
17g.4932946A>CCA497677656CHRNE,GP1BAc.342A>C (p.Thr114=)
c.-888+1396T>G (n.-888+1396T>G)
17g.4932946A>GCA497677654CHRNE,GP1BAc.342A>G (p.Thr114=)
c.-888+1396T>C (n.-888+1396T>C)
 gnomAD v4
17g.4932946A>TCA497677653CHRNE,GP1BAc.342A>T (p.Thr114=)
c.-888+1396T>A (n.-888+1396T>A)
17g.4932947C>ACA397316014CHRNE,GP1BAc.343C>A (p.Leu115Met)
c.-888+1395G>T (n.-888+1395G>T)
17g.4932947C>GCA397316018CHRNE,GP1BAc.343C>G (p.Leu115Val)
c.-888+1395G>C (n.-888+1395G>C)
 gnomAD v4
17g.4932947C>TCA497677658CHRNE,GP1BAc.343C>T (p.Leu115=)
c.-888+1395G>A (n.-888+1395G>A)
17g.4932948T>ACA397316031CHRNE,GP1BAc.344T>A (p.Leu115Gln)
c.-888+1394A>T (n.-888+1394A>T)
17g.4932948T>CCA397316035CHRNE,GP1BAc.344T>C (p.Leu115Pro)
c.-888+1394A>G (n.-888+1394A>G)
 ClinVar dbSNP
17g.4932948T>GCA397316030CHRNE,GP1BAc.344T>G (p.Leu115Arg)
c.-888+1394A>C (n.-888+1394A>C)
17g.4932948T=CA2244625371CHRNE,GP1BAc.344T= (p.Leu115=)
c.-888+1394A= (n.-888+1394A=)
17g.4932949G>ACA497677662CHRNE,GP1BAc.345G>A (p.Leu115=)
c.-888+1393C>T (n.-888+1393C>T)
17g.4932949G>CCA497677660CHRNE,GP1BAc.345G>C (p.Leu115=)
c.-888+1393C>G (n.-888+1393C>G)
17g.4932949G>TCA497677659CHRNE,GP1BAc.345G>T (p.Leu115=)
c.-888+1393C>A (n.-888+1393C>A)
17g.4932950C>ACA8314749CHRNE,GP1BAc.346C>A (p.Pro116Thr)
c.-888+1392G>T (n.-888+1392G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932950C=CA2244625372CHRNE,GP1BAc.346C= (p.Pro116=)
c.-888+1392G= (n.-888+1392G=)
17g.4932950C>GCA397316040CHRNE,GP1BAc.346C>G (p.Pro116Ala)
c.-888+1392G>C (n.-888+1392G>C)
17g.4932950C>TCA397316043CHRNE,GP1BAc.346C>T (p.Pro116Ser)
c.-888+1392G>A (n.-888+1392G>A)
 gnomAD v4
17g.4932951C>ACA397316055CHRNE,GP1BAc.347C>A (p.Pro116His)
c.-888+1391G>T (n.-888+1391G>T)
17g.4932951C=CA2244625373CHRNE,GP1BAc.347C= (p.Pro116=)
c.-888+1391G= (n.-888+1391G=)
17g.4932951C>GCA397316057CHRNE,GP1BAc.347C>G (p.Pro116Arg)
c.-888+1391G>C (n.-888+1391G>C)
17g.4932951C>TCA397316059CHRNE,GP1BAc.347C>T (p.Pro116Leu)
c.-888+1391G>A (n.-888+1391G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4932952T>ACA497677665CHRNE,GP1BAc.348T>A (p.Pro116=)
c.-888+1390A>T (n.-888+1390A>T)
17g.4932952T>CCA497677669CHRNE,GP1BAc.348T>C (p.Pro116=)
c.-888+1390A>G (n.-888+1390A>G)
17g.4932952T>GCA497677667CHRNE,GP1BAc.348T>G (p.Pro116=)
c.-888+1390A>C (n.-888+1390A>C)
17g.4932953G>ACA8314750CHRNE,GP1BAc.349G>A (p.Ala117Thr)
c.-888+1389C>T (n.-888+1389C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932953G>CCA397316062CHRNE,GP1BAc.349G>C (p.Ala117Pro)
c.-888+1389C>G (n.-888+1389C>G)
17g.4932953G=CA2244625374CHRNE,GP1BAc.349G= (p.Ala117=)
c.-888+1389C= (n.-888+1389C=)
17g.4932953G>TCA397316063CHRNE,GP1BAc.349G>T (p.Ala117Ser)
c.-888+1389C>A (n.-888+1389C>A)
17g.4932954C>ACA397316064CHRNE,GP1BAc.350C>A (p.Ala117Asp)
c.-888+1388G>T (n.-888+1388G>T)
17g.4932954C=CA2244625375CHRNE,GP1BAc.350C= (p.Ala117=)
c.-888+1388G= (n.-888+1388G=)
17g.4932954C>GCA8314751CHRNE,GP1BAc.350C>G (p.Ala117Gly)
c.-888+1388G>C (n.-888+1388G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932954C>TCA397316065CHRNE,GP1BAc.350C>T (p.Ala117Val)
c.-888+1388G>A (n.-888+1388G>A)
17g.4932957_4932958delCA2576136022CHRNE,GP1BAc.353_354del (p.Leu118HisfsTer?)
c.-888+1387_-888+1388del (n.-888+1387_-888+1388del)
17g.4932955T>ACA497677672CHRNE,GP1BAc.351T>A (p.Ala117=)
c.-888+1387A>T (n.-888+1387A>T)
17g.4932955T>CCA497677675CHRNE,GP1BAc.351T>C (p.Ala117=)
c.-888+1387A>G (n.-888+1387A>G)
17g.4932955T>GCA497677676CHRNE,GP1BAc.351T>G (p.Ala117=)
c.-888+1387A>C (n.-888+1387A>C)
17g.4932956C>ACA397316079CHRNE,GP1BAc.352C>A (p.Leu118Ile)
c.-888+1386G>T (n.-888+1386G>T)
17g.4932956C>GCA397316068CHRNE,GP1BAc.352C>G (p.Leu118Val)
c.-888+1386G>C (n.-888+1386G>C)
17g.4932956C>TCA397316069CHRNE,GP1BAc.352C>T (p.Leu118Phe)
c.-888+1386G>A (n.-888+1386G>A)
17g.4932957T>ACA397316083CHRNE,GP1BAc.353T>A (p.Leu118His)
c.-888+1385A>T (n.-888+1385A>T)
17g.4932957T>CCA397316087CHRNE,GP1BAc.353T>C (p.Leu118Pro)
c.-888+1385A>G (n.-888+1385A>G)
17g.4932957T>GCA397316093CHRNE,GP1BAc.353T>G (p.Leu118Arg)
c.-888+1385A>C (n.-888+1385A>C)
17g.4932958C>ACA497677231CHRNE,GP1BAc.354C>A (p.Leu118=)
c.-888+1384G>T (n.-888+1384G>T)
17g.4932958C>GCA497677232CHRNE,GP1BAc.354C>G (p.Leu118=)
c.-888+1384G>C (n.-888+1384G>C)
17g.4932958C>TCA497677233CHRNE,GP1BAc.354C>T (p.Leu118=)
c.-888+1384G>A (n.-888+1384G>A)
17g.4932959A=CA2244625376CHRNE,GP1BAc.355A= (p.Thr119=)
c.-888+1383T= (n.-888+1383T=)
17g.4932959A>CCA397316095CHRNE,GP1BAc.355A>C (p.Thr119Pro)
c.-888+1383T>G (n.-888+1383T>G)
17g.4932959A>GCA8314752CHRNE,GP1BAc.355A>G (p.Thr119Ala)
c.-888+1383T>C (n.-888+1383T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932959A>TCA397316098CHRNE,GP1BAc.355A>T (p.Thr119Ser)
c.-888+1383T>A (n.-888+1383T>A)
17g.4932960C>ACA397316103CHRNE,GP1BAc.356C>A (p.Thr119Asn)
c.-888+1382G>T (n.-888+1382G>T)
 gnomAD v4
17g.4932960C>GCA397316105CHRNE,GP1BAc.356C>G (p.Thr119Ser)
c.-888+1382G>C (n.-888+1382G>C)
17g.4932960C>TCA397316108CHRNE,GP1BAc.356C>T (p.Thr119Ile)
c.-888+1382G>A (n.-888+1382G>A)
17g.4932961C>ACA497677238CHRNE,GP1BAc.357C>A (p.Thr119=)
c.-888+1381G>T (n.-888+1381G>T)
17g.4932961C=CA2244625377CHRNE,GP1BAc.357C= (p.Thr119=)
c.-888+1381G= (n.-888+1381G=)
17g.4932961C>GCA497677239CHRNE,GP1BAc.357C>G (p.Thr119=)
c.-888+1381G>C (n.-888+1381G>C)
17g.4932961C>TCA8314753CHRNE,GP1BAc.357C>T (p.Thr119=)
c.-888+1381G>A (n.-888+1381G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932962G>ACA8314754CHRNE,GP1BAc.358G>A (p.Val120Ile)
c.-888+1380C>T (n.-888+1380C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4932962G>CCA397316113CHRNE,GP1BAc.358G>C (p.Val120Leu)
c.-888+1380C>G (n.-888+1380C>G)
17g.4932962G=CA2244625378CHRNE,GP1BAc.358G= (p.Val120=)
c.-888+1380C= (n.-888+1380C=)
17g.4932962G>TCA397316114CHRNE,GP1BAc.358G>T (p.Val120Phe)
c.-888+1380C>A (n.-888+1380C>A)
17g.4932963T>ACA397316116CHRNE,GP1BAc.359T>A (p.Val120Asp)
c.-888+1379A>T (n.-888+1379A>T)
17g.4932963T>CCA397316117CHRNE,GP1BAc.359T>C (p.Val120Ala)
c.-888+1379A>G (n.-888+1379A>G)
17g.4932963T>GCA397316115CHRNE,GP1BAc.359T>G (p.Val120Gly)
c.-888+1379A>C (n.-888+1379A>C)
17g.4932964C>ACA497677242CHRNE,GP1BAc.360C>A (p.Val120=)
c.-888+1378G>T (n.-888+1378G>T)
 gnomAD v4
17g.4932964C=CA2244625379CHRNE,GP1BAc.360C= (p.Val120=)
c.-888+1378G= (n.-888+1378G=)
17g.4932964C>GCA497677243CHRNE,GP1BAc.360C>G (p.Val120=)
c.-888+1378G>C (n.-888+1378G>C)
17g.4932964C>TCA8314755CHRNE,GP1BAc.360C>T (p.Val120=)
c.-888+1378G>A (n.-888+1378G>A)
 dbSNP ExAC gnomAD v2
17g.4932965C>ACA397316120CHRNE,GP1BAc.361C>A (p.Leu121Met)
c.-888+1377G>T (n.-888+1377G>T)
 COSMIC
17g.4932965C>GCA397316122CHRNE,GP1BAc.361C>G (p.Leu121Val)
c.-888+1377G>C (n.-888+1377G>C)
17g.4932965C>TCA497677245CHRNE,GP1BAc.361C>T (p.Leu121=)
c.-888+1377G>A (n.-888+1377G>A)
 gnomAD v3 gnomAD v4
17g.4932966T>ACA397316125CHRNE,GP1BAc.362T>A (p.Leu121Gln)
c.-888+1376A>T (n.-888+1376A>T)
17g.4932966T>CCA397316127CHRNE,GP1BAc.362T>C (p.Leu121Pro)
c.-888+1376A>G (n.-888+1376A>G)
17g.4932966T>GCA397316131CHRNE,GP1BAc.362T>G (p.Leu121Arg)
c.-888+1376A>C (n.-888+1376A>C)
17g.4932967G>ACA497677248CHRNE,GP1BAc.363G>A (p.Leu121=)
c.-888+1375C>T (n.-888+1375C>T)
 gnomAD v3 gnomAD v4
17g.4932967G>CCA497677249CHRNE,GP1BAc.363G>C (p.Leu121=)
c.-888+1375C>G (n.-888+1375C>G)
 dbSNP gnomAD v4
17g.4932967G=CA2244625380CHRNE,GP1BAc.363G= (p.Leu121=)
c.-888+1375C= (n.-888+1375C=)
17g.4932967G>TCA497677250CHRNE,GP1BAc.363G>T (p.Leu121=)
c.-888+1375C>A (n.-888+1375C>A)
17g.4932968G>ACA397316135CHRNE,GP1BAc.364G>A (p.Asp122Asn)
c.-888+1374C>T (n.-888+1374C>T)
17g.4932968G>CCA397316136CHRNE,GP1BAc.364G>C (p.Asp122His)
c.-888+1374C>G (n.-888+1374C>G)
17g.4932968G>TCA397316140CHRNE,GP1BAc.364G>T (p.Asp122Tyr)
c.-888+1374C>A (n.-888+1374C>A)
17g.4932969A=CA2244625381CHRNE,GP1BAc.365A= (p.Asp122=)
c.-888+1373T= (n.-888+1373T=)
17g.4932969A>CCA8314756CHRNE,GP1BAc.365A>C (p.Asp122Ala)
c.-888+1373T>G (n.-888+1373T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4932969A>GCA397316145CHRNE,GP1BAc.365A>G (p.Asp122Gly)
c.-888+1373T>C (n.-888+1373T>C)
17g.4932969A>TCA397316149CHRNE,GP1BAc.365A>T (p.Asp122Val)
c.-888+1373T>A (n.-888+1373T>A)
17g.4932970C>ACA397316155CHRNE,GP1BAc.366C>A (p.Asp122Glu)
c.-888+1372G>T (n.-888+1372G>T)
17g.4932970C=CA2244625382CHRNE,GP1BAc.366C= (p.Asp122=)
c.-888+1372G= (n.-888+1372G=)
17g.4932970C>GCA397316153CHRNE,GP1BAc.366C>G (p.Asp122Glu)
c.-888+1372G>C (n.-888+1372G>C)
17g.4932970C>TCA8314757CHRNE,GP1BAc.366C>T (p.Asp122=)
c.-888+1372G>A (n.-888+1372G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4932971G>ACA8314758CHRNE,GP1BAc.367G>A (p.Val123Ile)
c.-888+1371C>T (n.-888+1371C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932971G>CCA397316161CHRNE,GP1BAc.367G>C (p.Val123Leu)
c.-888+1371C>G (n.-888+1371C>G)
17g.4932971G=CA2244625383CHRNE,GP1BAc.367G= (p.Val123=)
c.-888+1371C= (n.-888+1371C=)
17g.4932971G>TCA397316169CHRNE,GP1BAc.367G>T (p.Val123Phe)
c.-888+1371C>A (n.-888+1371C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4932972T>ACA397316173CHRNE,GP1BAc.368T>A (p.Val123Asp)
c.-888+1370A>T (n.-888+1370A>T)
 gnomAD v4
17g.4932972T>CCA397316175CHRNE,GP1BAc.368T>C (p.Val123Ala)
c.-888+1370A>G (n.-888+1370A>G)
17g.4932972T>GCA397316177CHRNE,GP1BAc.368T>G (p.Val123Gly)
c.-888+1370A>C (n.-888+1370A>C)
17g.4932973C>ACA497677260CHRNE,GP1BAc.369C>A (p.Val123=)
c.-888+1369G>T (n.-888+1369G>T)
17g.4932973C>GCA497677259CHRNE,GP1BAc.369C>G (p.Val123=)
c.-888+1369G>C (n.-888+1369G>C)
17g.4932973C>TCA497677258CHRNE,GP1BAc.369C>T (p.Val123=)
c.-888+1369G>A (n.-888+1369G>A)
17g.4932975_4932977delCA2733116726CHRNE,GP1BAc.371_373del (p.Ser124del)
c.-888+1367_-888+1369del (n.-888+1367_-888+1369del)
 dbSNP
17g.4932974T>ACA397316179CHRNE,GP1BAc.370T>A (p.Ser124Thr)
c.-888+1368A>T (n.-888+1368A>T)
17g.4932974T>CCA397316180CHRNE,GP1BAc.370T>C (p.Ser124Pro)
c.-888+1368A>G (n.-888+1368A>G)
17g.4932974T>GCA397316182CHRNE,GP1BAc.370T>G (p.Ser124Ala)
c.-888+1368A>C (n.-888+1368A>C)
17g.4932975C>ACA397316184CHRNE,GP1BAc.371C>A (p.Ser124Tyr)
c.-888+1367G>T (n.-888+1367G>T)
17g.4932975C=CA2244625384CHRNE,GP1BAc.371C= (p.Ser124=)
c.-888+1367G= (n.-888+1367G=)
17g.4932975C>GCA397316185CHRNE,GP1BAc.371C>G (p.Ser124Cys)
c.-888+1367G>C (n.-888+1367G>C)
17g.4932975C>TCA397316186CHRNE,GP1BAc.371C>T (p.Ser124Phe)
c.-888+1367G>A (n.-888+1367G>A)
 dbSNP COSMIC
17g.4932976C>ACA497677265CHRNE,GP1BAc.372C>A (p.Ser124=)
c.-888+1366G>T (n.-888+1366G>T)
17g.4932976C=CA2244625385CHRNE,GP1BAc.372C= (p.Ser124=)
c.-888+1366G= (n.-888+1366G=)
17g.4932976C>GCA497677266CHRNE,GP1BAc.372C>G (p.Ser124=)
c.-888+1366G>C (n.-888+1366G>C)
17g.4932976C>TCA497677267CHRNE,GP1BAc.372C>T (p.Ser124=)
c.-888+1366G>A (n.-888+1366G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4932977T>ACA397316188CHRNE,GP1BAc.373T>A (p.Phe125Ile)
c.-888+1365A>T (n.-888+1365A>T)
17g.4932977T>CCA397316190CHRNE,GP1BAc.373T>C (p.Phe125Leu)
c.-888+1365A>G (n.-888+1365A>G)
 gnomAD v4
17g.4932977T>GCA397316187CHRNE,GP1BAc.373T>G (p.Phe125Val)
c.-888+1365A>C (n.-888+1365A>C)
 gnomAD v4
17g.4932978T>ACA397316192CHRNE,GP1BAc.374T>A (p.Phe125Tyr)
c.-888+1364A>T (n.-888+1364A>T)
17g.4932978T>CCA397316194CHRNE,GP1BAc.374T>C (p.Phe125Ser)
c.-888+1364A>G (n.-888+1364A>G)
17g.4932978T>GCA397316197CHRNE,GP1BAc.374T>G (p.Phe125Cys)
c.-888+1364A>C (n.-888+1364A>C)
17g.4932979C>ACA397316202CHRNE,GP1BAc.375C>A (p.Phe125Leu)
c.-888+1363G>T (n.-888+1363G>T)
17g.4932979C>GCA397316204CHRNE,GP1BAc.375C>G (p.Phe125Leu)
c.-888+1363G>C (n.-888+1363G>C)
17g.4932979C>TCA497677275CHRNE,GP1BAc.375C>T (p.Phe125=)
c.-888+1363G>A (n.-888+1363G>A)
17g.4932980A>CCA397316206CHRNE,GP1BAc.376A>C (p.Asn126His)
c.-888+1362T>G (n.-888+1362T>G)
17g.4932980A>GCA397316208CHRNE,GP1BAc.376A>G (p.Asn126Asp)
c.-888+1362T>C (n.-888+1362T>C)
 gnomAD v4
17g.4932980A>TCA397316211CHRNE,GP1BAc.376A>T (p.Asn126Tyr)
c.-888+1362T>A (n.-888+1362T>A)
17g.4932981A>CCA397316212CHRNE,GP1BAc.377A>C (p.Asn126Thr)
c.-888+1361T>G (n.-888+1361T>G)
17g.4932981A>GCA397316215CHRNE,GP1BAc.377A>G (p.Asn126Ser)
c.-888+1361T>C (n.-888+1361T>C)
17g.4932981A>TCA397316216CHRNE,GP1BAc.377A>T (p.Asn126Ile)
c.-888+1361T>A (n.-888+1361T>A)
17g.4932982C>ACA397316217CHRNE,GP1BAc.378C>A (p.Asn126Lys)
c.-888+1360G>T (n.-888+1360G>T)
17g.4932982C>GCA397316218CHRNE,GP1BAc.378C>G (p.Asn126Lys)
c.-888+1360G>C (n.-888+1360G>C)
17g.4932982C>TCA497677280CHRNE,GP1BAc.378C>T (p.Asn126=)
c.-888+1360G>A (n.-888+1360G>A)
17g.4932983C>ACA8314760CHRNE,GP1BAc.379C>A (p.Arg127=)
c.-888+1359G>T (n.-888+1359G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932983C=CA2244625386CHRNE,GP1BAc.379C= (p.Arg127=)
c.-888+1359G= (n.-888+1359G=)
17g.4932983C>GCA397316219CHRNE,GP1BAc.379C>G (p.Arg127Gly)
c.-888+1359G>C (n.-888+1359G>C)
17g.4932983C>TCA8314759CHRNE,GP1BAc.379C>T (p.Arg127Trp)
c.-888+1359G>A (n.-888+1359G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932984G>ACA8314761CHRNE,GP1BAc.380G>A (p.Arg127Gln)
c.-888+1358C>T (n.-888+1358C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4932984G>CCA397316220CHRNE,GP1BAc.380G>C (p.Arg127Pro)
c.-888+1358C>G (n.-888+1358C>G)
17g.4932984G=CA2244625387CHRNE,GP1BAc.380G= (p.Arg127=)
c.-888+1358C= (n.-888+1358C=)
17g.4932984G>TCA397316222CHRNE,GP1BAc.380G>T (p.Arg127Leu)
c.-888+1358C>A (n.-888+1358C>A)
17g.4932985G>ACA497677287CHRNE,GP1BAc.381G>A (p.Arg127=)
c.-888+1357C>T (n.-888+1357C>T)
17g.4932985G>CCA497677290CHRNE,GP1BAc.381G>C (p.Arg127=)
c.-888+1357C>G (n.-888+1357C>G)
17g.4932985G>TCA497677289CHRNE,GP1BAc.381G>T (p.Arg127=)
c.-888+1357C>A (n.-888+1357C>A)
17g.4932986C>ACA397316224CHRNE,GP1BAc.382C>A (p.Leu128Met)
c.-888+1356G>T (n.-888+1356G>T)
17g.4932986C>GCA397316226CHRNE,GP1BAc.382C>G (p.Leu128Val)
c.-888+1356G>C (n.-888+1356G>C)
17g.4932986C>TCA497677291CHRNE,GP1BAc.382C>T (p.Leu128=)
c.-888+1356G>A (n.-888+1356G>A)
17g.4932987T>ACA397316229CHRNE,GP1BAc.383T>A (p.Leu128Gln)
c.-888+1355A>T (n.-888+1355A>T)
17g.4932987T>CCA397316231CHRNE,GP1BAc.383T>C (p.Leu128Pro)
c.-888+1355A>G (n.-888+1355A>G)
17g.4932987T>GCA397316233CHRNE,GP1BAc.383T>G (p.Leu128Arg)
c.-888+1355A>C (n.-888+1355A>C)
17g.4932988G>ACA497677293CHRNE,GP1BAc.384G>A (p.Leu128=)
c.-888+1354C>T (n.-888+1354C>T)
17g.4932988G>CCA497677294CHRNE,GP1BAc.384G>C (p.Leu128=)
c.-888+1354C>G (n.-888+1354C>G)
17g.4932988G>TCA497677295CHRNE,GP1BAc.384G>T (p.Leu128=)
c.-888+1354C>A (n.-888+1354C>A)
17g.4932989A>CCA397316235CHRNE,GP1BAc.385A>C (p.Thr129Pro)
c.-888+1353T>G (n.-888+1353T>G)
17g.4932989A>GCA397316237CHRNE,GP1BAc.385A>G (p.Thr129Ala)
c.-888+1353T>C (n.-888+1353T>C)
17g.4932989A>TCA397316240CHRNE,GP1BAc.385A>T (p.Thr129Ser)
c.-888+1353T>A (n.-888+1353T>A)
17g.4932990C>ACA397316243CHRNE,GP1BAc.386C>A (p.Thr129Asn)
c.-888+1352G>T (n.-888+1352G>T)
17g.4932990C>GCA397316245CHRNE,GP1BAc.386C>G (p.Thr129Ser)
c.-888+1352G>C (n.-888+1352G>C)
17g.4932990C>TCA397316247CHRNE,GP1BAc.386C>T (p.Thr129Ile)
c.-888+1352G>A (n.-888+1352G>A)
17g.4932991delCA2580612246CHRNE,GP1BAc.387del (p.Ser130ArgfsTer18)
c.-888+1352del (n.-888+1352del)
 gnomAD v4
17g.4932991C>ACA497677299CHRNE,GP1BAc.387C>A (p.Thr129=)
c.-888+1351G>T (n.-888+1351G>T)
17g.4932991C>GCA497677300CHRNE,GP1BAc.387C>G (p.Thr129=)
c.-888+1351G>C (n.-888+1351G>C)
17g.4932991C>TCA497677302CHRNE,GP1BAc.387C>T (p.Thr129=)
c.-888+1351G>A (n.-888+1351G>A)
 gnomAD v4
17g.4932992T>ACA397316258CHRNE,GP1BAc.388T>A (p.Ser130Thr)
c.-888+1350A>T (n.-888+1350A>T)
17g.4932992T>CCA397316253CHRNE,GP1BAc.388T>C (p.Ser130Pro)
c.-888+1350A>G (n.-888+1350A>G)
17g.4932992T>GCA397316251CHRNE,GP1BAc.388T>G (p.Ser130Ala)
c.-888+1350A>C (n.-888+1350A>C)
17g.4932993C>ACA397316261CHRNE,GP1BAc.389C>A (p.Ser130Ter)
c.-888+1349G>T (n.-888+1349G>T)
17g.4932993C=CA2244625388CHRNE,GP1BAc.389C= (p.Ser130=)
c.-888+1349G= (n.-888+1349G=)
17g.4932993C>GCA397316260CHRNE,GP1BAc.389C>G (p.Ser130Trp)
c.-888+1349G>C (n.-888+1349G>C)
17g.4932993C>TCA8314762CHRNE,GP1BAc.389C>T (p.Ser130Leu)
c.-888+1349G>A (n.-888+1349G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932994G>ACA8314763CHRNE,GP1BAc.390G>A (p.Ser130=)
c.-888+1348C>T (n.-888+1348C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4932994G>CCA497677303CHRNE,GP1BAc.390G>C (p.Ser130=)
c.-888+1348C>G (n.-888+1348C>G)
17g.4932994G=CA2244625389CHRNE,GP1BAc.390G= (p.Ser130=)
c.-888+1348C= (n.-888+1348C=)
17g.4932994G>TCA497677304CHRNE,GP1BAc.390G>T (p.Ser130=)
c.-888+1348C>A (n.-888+1348C>A)
17g.4932995C>ACA397316265CHRNE,GP1BAc.391C>A (p.Leu131Met)
c.-888+1347G>T (n.-888+1347G>T)
 gnomAD v4
17g.4932995C=CA2244625390CHRNE,GP1BAc.391C= (p.Leu131=)
c.-888+1347G= (n.-888+1347G=)
17g.4932995C>GCA397316267CHRNE,GP1BAc.391C>G (p.Leu131Val)
c.-888+1347G>C (n.-888+1347G>C)
17g.4932995C>TCA497677307CHRNE,GP1BAc.391C>T (p.Leu131=)
c.-888+1347G>A (n.-888+1347G>A)
 dbSNP
17g.4932996T>ACA397316269CHRNE,GP1BAc.392T>A (p.Leu131Gln)
c.-888+1346A>T (n.-888+1346A>T)
17g.4932996T>CCA397316271CHRNE,GP1BAc.392T>C (p.Leu131Pro)
c.-888+1346A>G (n.-888+1346A>G)
17g.4932996T>GCA397316272CHRNE,GP1BAc.392T>G (p.Leu131Arg)
c.-888+1346A>C (n.-888+1346A>C)
17g.4932997G>ACA497677308CHRNE,GP1BAc.393G>A (p.Leu131=)
c.-888+1345C>T (n.-888+1345C>T)
17g.4932997G>CCA497677309CHRNE,GP1BAc.393G>C (p.Leu131=)
c.-888+1345C>G (n.-888+1345C>G)
17g.4932997G>TCA497677311CHRNE,GP1BAc.393G>T (p.Leu131=)
c.-888+1345C>A (n.-888+1345C>A)
17g.4932998C>ACA397316273CHRNE,GP1BAc.394C>A (p.Pro132Thr)
c.-888+1344G>T (n.-888+1344G>T)
17g.4932998C>GCA397316275CHRNE,GP1BAc.394C>G (p.Pro132Ala)
c.-888+1344G>C (n.-888+1344G>C)
17g.4932998C>TCA397316277CHRNE,GP1BAc.394C>T (p.Pro132Ser)
c.-888+1344G>A (n.-888+1344G>A)
 gnomAD v4
17g.4932999C>ACA397316279CHRNE,GP1BAc.395C>A (p.Pro132His)
c.-888+1343G>T (n.-888+1343G>T)
17g.4932999C=CA2244625391CHRNE,GP1BAc.395C= (p.Pro132=)
c.-888+1343G= (n.-888+1343G=)
17g.4932999C>GCA397316280CHRNE,GP1BAc.395C>G (p.Pro132Arg)
c.-888+1343G>C (n.-888+1343G>C)
17g.4932999C>TCA8314764CHRNE,GP1BAc.395C>T (p.Pro132Leu)
c.-888+1343G>A (n.-888+1343G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933000T>ACA497677312CHRNE,GP1BAc.396T>A (p.Pro132=)
c.-888+1342A>T (n.-888+1342A>T)
17g.4933000T>CCA8314765CHRNE,GP1BAc.396T>C (p.Pro132=)
c.-888+1342A>G (n.-888+1342A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933000T>GCA497677313CHRNE,GP1BAc.396T>G (p.Pro132=)
c.-888+1342A>C (n.-888+1342A>C)
17g.4933000T=CA2244625392CHRNE,GP1BAc.396T= (p.Pro132=)
c.-888+1342A= (n.-888+1342A=)
17g.4933001C>ACA397316286CHRNE,GP1BAc.397C>A (p.Leu133Ile)
c.-888+1341G>T (n.-888+1341G>T)
17g.4933001C>GCA397316285CHRNE,GP1BAc.397C>G (p.Leu133Val)
c.-888+1341G>C (n.-888+1341G>C)
17g.4933001C>TCA397316283CHRNE,GP1BAc.397C>T (p.Leu133Phe)
c.-888+1341G>A (n.-888+1341G>A)
17g.4933002T>ACA397316288CHRNE,GP1BAc.398T>A (p.Leu133His)
c.-888+1340A>T (n.-888+1340A>T)
17g.4933002T>CCA397316290CHRNE,GP1BAc.398T>C (p.Leu133Pro)
c.-888+1340A>G (n.-888+1340A>G)
 gnomAD v4
17g.4933002T>GCA397316291CHRNE,GP1BAc.398T>G (p.Leu133Arg)
c.-888+1340A>C (n.-888+1340A>C)
17g.4933003T>ACA497677315CHRNE,GP1BAc.399T>A (p.Leu133=)
c.-888+1339A>T (n.-888+1339A>T)
17g.4933003T>CCA497677317CHRNE,GP1BAc.399T>C (p.Leu133=)
c.-888+1339A>G (n.-888+1339A>G)
 gnomAD v4
17g.4933003T>GCA497677319CHRNE,GP1BAc.399T>G (p.Leu133=)
c.-888+1339A>C (n.-888+1339A>C)
17g.4933004G>ACA397316292CHRNE,GP1BAc.400G>A (p.Gly134Ser)
c.-888+1338C>T (n.-888+1338C>T)
17g.4933004G>CCA397316293CHRNE,GP1BAc.400G>C (p.Gly134Arg)
c.-888+1338C>G (n.-888+1338C>G)
17g.4933004G>TCA397316294CHRNE,GP1BAc.400G>T (p.Gly134Cys)
c.-888+1338C>A (n.-888+1338C>A)
17g.4933005G>ACA397316296CHRNE,GP1BAc.401G>A (p.Gly134Asp)
c.-888+1337C>T (n.-888+1337C>T)
17g.4933005G>CCA397316297CHRNE,GP1BAc.401G>C (p.Gly134Ala)
c.-888+1337C>G (n.-888+1337C>G)
17g.4933005G>TCA397316299CHRNE,GP1BAc.401G>T (p.Gly134Val)
c.-888+1337C>A (n.-888+1337C>A)

Number of alleles fetched