Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933296A>CCA397318125CHRNE,GP1BAc.692A>C (p.Tyr231Ser)
c.-888+1046T>G (n.-888+1046T>G)
17g.4933296A>GCA397318126CHRNE,GP1BAc.692A>G (p.Tyr231Cys)
c.-888+1046T>C (n.-888+1046T>C)
17g.4933296A>TCA397318127CHRNE,GP1BAc.692A>T (p.Tyr231Phe)
c.-888+1046T>A (n.-888+1046T>A)
17g.4933297T>ACA397318129CHRNE,GP1BAc.693T>A (p.Tyr231Ter)
c.-888+1045A>T (n.-888+1045A>T)
17g.4933297T>CCA497677221CHRNE,GP1BAc.693T>C (p.Tyr231=)
c.-888+1045A>G (n.-888+1045A>G)
17g.4933297T>GCA397318132CHRNE,GP1BAc.693T>G (p.Tyr231Ter)
c.-888+1045A>C (n.-888+1045A>C)
17g.4933298T>ACA397318134CHRNE,GP1BAc.694T>A (p.Phe232Ile)
c.-888+1044A>T (n.-888+1044A>T)
 ClinVar
17g.4933298T>CCA397318138CHRNE,GP1BAc.694T>C (p.Phe232Leu)
c.-888+1044A>G (n.-888+1044A>G)
17g.4933298T>GCA397318136CHRNE,GP1BAc.694T>G (p.Phe232Val)
c.-888+1044A>C (n.-888+1044A>C)
17g.4933299T>ACA397318142CHRNE,GP1BAc.695T>A (p.Phe232Tyr)
c.-888+1043A>T (n.-888+1043A>T)
17g.4933299T>CCA397318144CHRNE,GP1BAc.695T>C (p.Phe232Ser)
c.-888+1043A>G (n.-888+1043A>G)
17g.4933299T>GCA397318145CHRNE,GP1BAc.695T>G (p.Phe232Cys)
c.-888+1043A>C (n.-888+1043A>C)
17g.4933300T>ACA397318148CHRNE,GP1BAc.696T>A (p.Phe232Leu)
c.-888+1042A>T (n.-888+1042A>T)
17g.4933300T>CCA497677222CHRNE,GP1BAc.696T>C (p.Phe232=)
c.-888+1042A>G (n.-888+1042A>G)
17g.4933300T>GCA8314815CHRNE,GP1BAc.696T>G (p.Phe232Leu)
c.-888+1042A>C (n.-888+1042A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933300T=CA2244625497CHRNE,GP1BAc.696T= (p.Phe232=)
c.-888+1042A= (n.-888+1042A=)
17g.4933301C>ACA397318154CHRNE,GP1BAc.697C>A (p.Arg233Ser)
c.-888+1041G>T (n.-888+1041G>T)
17g.4933301C=CA2244625498CHRNE,GP1BAc.697C= (p.Arg233=)
c.-888+1041G= (n.-888+1041G=)
17g.4933301C>GCA397318156CHRNE,GP1BAc.697C>G (p.Arg233Gly)
c.-888+1041G>C (n.-888+1041G>C)
17g.4933301C>TCA8314816CHRNE,GP1BAc.697C>T (p.Arg233Cys)
c.-888+1041G>A (n.-888+1041G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933302G>ACA8314817CHRNE,GP1BAc.698G>A (p.Arg233His)
c.-888+1040C>T (n.-888+1040C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933302G>CCA397318160CHRNE,GP1BAc.698G>C (p.Arg233Pro)
c.-888+1040C>G (n.-888+1040C>G)
17g.4933302G=CA2244625499CHRNE,GP1BAc.698G= (p.Arg233=)
c.-888+1040C= (n.-888+1040C=)
17g.4933302G>TCA397318163CHRNE,GP1BAc.698G>T (p.Arg233Leu)
c.-888+1040C>A (n.-888+1040C>A)
17g.4933303T>ACA8314818CHRNE,GP1BAc.699T>A (p.Arg233=)
c.-888+1039A>T (n.-888+1039A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933303T>CCA497677223CHRNE,GP1BAc.699T>C (p.Arg233=)
c.-888+1039A>G (n.-888+1039A>G)
17g.4933303T>GCA497677224CHRNE,GP1BAc.699T>G (p.Arg233=)
c.-888+1039A>C (n.-888+1039A>C)
17g.4933303T=CA2244625500CHRNE,GP1BAc.699T= (p.Arg233=)
c.-888+1039A= (n.-888+1039A=)
17g.4933304C>ACA397318169CHRNE,GP1BAc.700C>A (p.Arg234Ser)
c.-888+1038G>T (n.-888+1038G>T)
17g.4933304C=CA2244625501CHRNE,GP1BAc.700C= (p.Arg234=)
c.-888+1038G= (n.-888+1038G=)
17g.4933304C>GCA397318175CHRNE,GP1BAc.700C>G (p.Arg234Gly)
c.-888+1038G>C (n.-888+1038G>C)
17g.4933304C>TCA8314819CHRNE,GP1BAc.700C>T (p.Arg234Cys)
c.-888+1038G>A (n.-888+1038G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933305G>ACA8314820CHRNE,GP1BAc.701G>A (p.Arg234His)
c.-888+1037C>T (n.-888+1037C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933305G>CCA397318178CHRNE,GP1BAc.701G>C (p.Arg234Pro)
c.-888+1037C>G (n.-888+1037C>G)
17g.4933305G=CA2244625502CHRNE,GP1BAc.701G= (p.Arg234=)
c.-888+1037C= (n.-888+1037C=)
17g.4933305G>TCA397318181CHRNE,GP1BAc.701G>T (p.Arg234Leu)
c.-888+1037C>A (n.-888+1037C>A)
17g.4933309_4933312delCA2576136023CHRNE,GP1BAc.705_708del (p.Trp235CysfsTer20)
c.-888+1034_-888+1037del (n.-888+1034_-888+1037del)
17g.4933306C>ACA497677225CHRNE,GP1BAc.702C>A (p.Arg234=)
c.-888+1036G>T (n.-888+1036G>T)
 dbSNP
17g.4933306C=CA2244625503CHRNE,GP1BAc.702C= (p.Arg234=)
c.-888+1036G= (n.-888+1036G=)
17g.4933306C>GCA497677226CHRNE,GP1BAc.702C>G (p.Arg234=)
c.-888+1036G>C (n.-888+1036G>C)
17g.4933306C>TCA497677227CHRNE,GP1BAc.702C>T (p.Arg234=)
c.-888+1036G>A (n.-888+1036G>A)
 gnomAD v4
17g.4933307T>ACA397318184CHRNE,GP1BAc.703T>A (p.Trp235Arg)
c.-888+1035A>T (n.-888+1035A>T)
17g.4933307T>CCA397318185CHRNE,GP1BAc.703T>C (p.Trp235Arg)
c.-888+1035A>G (n.-888+1035A>G)
 gnomAD v4
17g.4933307T>GCA397318187CHRNE,GP1BAc.703T>G (p.Trp235Gly)
c.-888+1035A>C (n.-888+1035A>C)
17g.4933308G>ACA397318190CHRNE,GP1BAc.704G>A (p.Trp235Ter)
c.-888+1034C>T (n.-888+1034C>T)
17g.4933308G>CCA397318192CHRNE,GP1BAc.704G>C (p.Trp235Ser)
c.-888+1034C>G (n.-888+1034C>G)
17g.4933308G>TCA397318193CHRNE,GP1BAc.704G>T (p.Trp235Leu)
c.-888+1034C>A (n.-888+1034C>A)
17g.4933309G>ACA397318200CHRNE,GP1BAc.705G>A (p.Trp235Ter)
c.-888+1033C>T (n.-888+1033C>T)
17g.4933309G>CCA397318202CHRNE,GP1BAc.705G>C (p.Trp235Cys)
c.-888+1033C>G (n.-888+1033C>G)
17g.4933309G>TCA397318197CHRNE,GP1BAc.705G>T (p.Trp235Cys)
c.-888+1033C>A (n.-888+1033C>A)
17g.4933310C>ACA397318207CHRNE,GP1BAc.706C>A (p.Leu236Met)
c.-888+1032G>T (n.-888+1032G>T)
17g.4933310C>GCA397318208CHRNE,GP1BAc.706C>G (p.Leu236Val)
c.-888+1032G>C (n.-888+1032G>C)
17g.4933310C>TCA497677230CHRNE,GP1BAc.706C>T (p.Leu236=)
c.-888+1032G>A (n.-888+1032G>A)
17g.4933311T>ACA397318212CHRNE,GP1BAc.707T>A (p.Leu236Gln)
c.-888+1031A>T (n.-888+1031A>T)
17g.4933311T>CCA397318214CHRNE,GP1BAc.707T>C (p.Leu236Pro)
c.-888+1031A>G (n.-888+1031A>G)
17g.4933311T>GCA397318217CHRNE,GP1BAc.707T>G (p.Leu236Arg)
c.-888+1031A>C (n.-888+1031A>C)
17g.4933312G>ACA497677234CHRNE,GP1BAc.708G>A (p.Leu236=)
c.-888+1030C>T (n.-888+1030C>T)
17g.4933312G>CCA497677235CHRNE,GP1BAc.708G>C (p.Leu236=)
c.-888+1030C>G (n.-888+1030C>G)
17g.4933312G>TCA497677236CHRNE,GP1BAc.708G>T (p.Leu236=)
c.-888+1030C>A (n.-888+1030C>A)
17g.4933313C>ACA397318222CHRNE,GP1BAc.709C>A (p.Gln237Lys)
c.-888+1029G>T (n.-888+1029G>T)
17g.4933313C>GCA397318226CHRNE,GP1BAc.709C>G (p.Gln237Glu)
c.-888+1029G>C (n.-888+1029G>C)
17g.4933313C>TCA397318228CHRNE,GP1BAc.709C>T (p.Gln237Ter)
c.-888+1029G>A (n.-888+1029G>A)
17g.4933314A>CCA397318231CHRNE,GP1BAc.710A>C (p.Gln237Pro)
c.-888+1028T>G (n.-888+1028T>G)
17g.4933314A>GCA397318234CHRNE,GP1BAc.710A>G (p.Gln237Arg)
c.-888+1028T>C (n.-888+1028T>C)
17g.4933314A>TCA397318236CHRNE,GP1BAc.710A>T (p.Gln237Leu)
c.-888+1028T>A (n.-888+1028T>A)
17g.4933315G>ACA287216444CHRNE,GP1BAc.711G>A (p.Gln237=)
c.-888+1027C>T (n.-888+1027C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933315G>CCA397318239CHRNE,GP1BAc.711G>C (p.Gln237His)
c.-888+1027C>G (n.-888+1027C>G)
17g.4933315G=CA2244625504CHRNE,GP1BAc.711G= (p.Gln237=)
c.-888+1027C= (n.-888+1027C=)
17g.4933315G>TCA397318242CHRNE,GP1BAc.711G>T (p.Gln237His)
c.-888+1027C>A (n.-888+1027C>A)
17g.4933316G>ACA8314821CHRNE,GP1BAc.712G>A (p.Asp238Asn)
c.-888+1026C>T (n.-888+1026C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933316G>CCA397318247CHRNE,GP1BAc.712G>C (p.Asp238His)
c.-888+1026C>G (n.-888+1026C>G)
 gnomAD v4
17g.4933316G=CA2244625505CHRNE,GP1BAc.712G= (p.Asp238=)
c.-888+1026C= (n.-888+1026C=)
17g.4933316G>TCA397318244CHRNE,GP1BAc.712G>T (p.Asp238Tyr)
c.-888+1026C>A (n.-888+1026C>A)
17g.4933317A>CCA397318250CHRNE,GP1BAc.713A>C (p.Asp238Ala)
c.-888+1025T>G (n.-888+1025T>G)
17g.4933317A>GCA397318253CHRNE,GP1BAc.713A>G (p.Asp238Gly)
c.-888+1025T>C (n.-888+1025T>C)
17g.4933317A>TCA397318254CHRNE,GP1BAc.713A>T (p.Asp238Val)
c.-888+1025T>A (n.-888+1025T>A)
17g.4933318C>ACA397318255CHRNE,GP1BAc.714C>A (p.Asp238Glu)
c.-888+1024G>T (n.-888+1024G>T)
17g.4933318C=CA2244625506CHRNE,GP1BAc.714C= (p.Asp238=)
c.-888+1024G= (n.-888+1024G=)
17g.4933318C>GCA397318256CHRNE,GP1BAc.714C>G (p.Asp238Glu)
c.-888+1024G>C (n.-888+1024G>C)
17g.4933318C>TCA497677241CHRNE,GP1BAc.714C>T (p.Asp238=)
c.-888+1024G>A (n.-888+1024G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933319A>CCA397318258CHRNE,GP1BAc.715A>C (p.Asn239His)
c.-888+1023T>G (n.-888+1023T>G)
17g.4933319A>GCA397318261CHRNE,GP1BAc.715A>G (p.Asn239Asp)
c.-888+1023T>C (n.-888+1023T>C)
 ClinVar gnomAD v4
17g.4933319A>TCA397318265CHRNE,GP1BAc.715A>T (p.Asn239Tyr)
c.-888+1023T>A (n.-888+1023T>A)
17g.4933320A=CA2244625507CHRNE,GP1BAc.716A= (p.Asn239=)
c.-888+1022T= (n.-888+1022T=)
17g.4933320A>CCA397318267CHRNE,GP1BAc.716A>C (p.Asn239Thr)
c.-888+1022T>G (n.-888+1022T>G)
17g.4933320A>GCA8314822CHRNE,GP1BAc.716A>G (p.Asn239Ser)
c.-888+1022T>C (n.-888+1022T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933320A>TCA397318271CHRNE,GP1BAc.716A>T (p.Asn239Ile)
c.-888+1022T>A (n.-888+1022T>A)
17g.4933321T>ACA397318273CHRNE,GP1BAc.717T>A (p.Asn239Lys)
c.-888+1021A>T (n.-888+1021A>T)
17g.4933321T>CCA497677246CHRNE,GP1BAc.717T>C (p.Asn239=)
c.-888+1021A>G (n.-888+1021A>G)
 COSMIC
17g.4933321T>GCA397318275CHRNE,GP1BAc.717T>G (p.Asn239Lys)
c.-888+1021A>C (n.-888+1021A>C)
 gnomAD v4
17g.4933322G>ACA397318280CHRNE,GP1BAc.718G>A (p.Ala240Thr)
c.-888+1020C>T (n.-888+1020C>T)
17g.4933322G>CCA397318281CHRNE,GP1BAc.718G>C (p.Ala240Pro)
c.-888+1020C>G (n.-888+1020C>G)
17g.4933322G>TCA397318278CHRNE,GP1BAc.718G>T (p.Ala240Ser)
c.-888+1020C>A (n.-888+1020C>A)
17g.4933323C>ACA397318283CHRNE,GP1BAc.719C>A (p.Ala240Asp)
c.-888+1019G>T (n.-888+1019G>T)
17g.4933323C>GCA397318282CHRNE,GP1BAc.719C>G (p.Ala240Gly)
c.-888+1019G>C (n.-888+1019G>C)
17g.4933323C>TCA397318284CHRNE,GP1BAc.719C>T (p.Ala240Val)
c.-888+1019G>A (n.-888+1019G>A)
17g.4933324T>ACA497677252CHRNE,GP1BAc.720T>A (p.Ala240=)
c.-888+1018A>T (n.-888+1018A>T)
17g.4933324T>CCA497677253CHRNE,GP1BAc.720T>C (p.Ala240=)
c.-888+1018A>G (n.-888+1018A>G)
 dbSNP
17g.4933324T>GCA497677254CHRNE,GP1BAc.720T>G (p.Ala240=)
c.-888+1018A>C (n.-888+1018A>C)
17g.4933325G>ACA397318286CHRNE,GP1BAc.721G>A (p.Glu241Lys)
c.-888+1017C>T (n.-888+1017C>T)
 dbSNP
17g.4933325G>CCA397318287CHRNE,GP1BAc.721G>C (p.Glu241Gln)
c.-888+1017C>G (n.-888+1017C>G)
17g.4933325G=CA2244625508CHRNE,GP1BAc.721G= (p.Glu241=)
c.-888+1017C= (n.-888+1017C=)
17g.4933325G>TCA397318290CHRNE,GP1BAc.721G>T (p.Glu241Ter)
c.-888+1017C>A (n.-888+1017C>A)
 dbSNP
17g.4933326A>CCA397318293CHRNE,GP1BAc.722A>C (p.Glu241Ala)
c.-888+1016T>G (n.-888+1016T>G)
17g.4933326A>GCA397318295CHRNE,GP1BAc.722A>G (p.Glu241Gly)
c.-888+1016T>C (n.-888+1016T>C)
17g.4933326A>TCA397318297CHRNE,GP1BAc.722A>T (p.Glu241Val)
c.-888+1016T>A (n.-888+1016T>A)
17g.4933327A>CCA397318300CHRNE,GP1BAc.723A>C (p.Glu241Asp)
c.-888+1015T>G (n.-888+1015T>G)
17g.4933327A>GCA497677257CHRNE,GP1BAc.723A>G (p.Glu241=)
c.-888+1015T>C (n.-888+1015T>C)
17g.4933327A>TCA397318303CHRNE,GP1BAc.723A>T (p.Glu241Asp)
c.-888+1015T>A (n.-888+1015T>A)
17g.4933328A>CCA397318306CHRNE,GP1BAc.724A>C (p.Asn242His)
c.-888+1014T>G (n.-888+1014T>G)
17g.4933328A>GCA397318308CHRNE,GP1BAc.724A>G (p.Asn242Asp)
c.-888+1014T>C (n.-888+1014T>C)
17g.4933328A>TCA397318310CHRNE,GP1BAc.724A>T (p.Asn242Tyr)
c.-888+1014T>A (n.-888+1014T>A)
17g.4933329A>CCA397318317CHRNE,GP1BAc.725A>C (p.Asn242Thr)
c.-888+1013T>G (n.-888+1013T>G)
17g.4933329A>GCA397318314CHRNE,GP1BAc.725A>G (p.Asn242Ser)
c.-888+1013T>C (n.-888+1013T>C)
17g.4933329A>TCA397318315CHRNE,GP1BAc.725A>T (p.Asn242Ile)
c.-888+1013T>A (n.-888+1013T>A)
17g.4933330T>ACA397318319CHRNE,GP1BAc.726T>A (p.Asn242Lys)
c.-888+1012A>T (n.-888+1012A>T)
17g.4933330T>CCA497677264CHRNE,GP1BAc.726T>C (p.Asn242=)
c.-888+1012A>G (n.-888+1012A>G)
 dbSNP gnomAD v4
17g.4933330T>GCA397318322CHRNE,GP1BAc.726T>G (p.Asn242Lys)
c.-888+1012A>C (n.-888+1012A>C)
17g.4933330T=CA2244625509CHRNE,GP1BAc.726T= (p.Asn242=)
c.-888+1012A= (n.-888+1012A=)
17g.4933331G>ACA397318325CHRNE,GP1BAc.727G>A (p.Val243Ile)
c.-888+1011C>T (n.-888+1011C>T)
17g.4933331G>CCA397318326CHRNE,GP1BAc.727G>C (p.Val243Leu)
c.-888+1011C>G (n.-888+1011C>G)
17g.4933331G>TCA397318328CHRNE,GP1BAc.727G>T (p.Val243Phe)
c.-888+1011C>A (n.-888+1011C>A)
17g.4933332T>ACA397318329CHRNE,GP1BAc.728T>A (p.Val243Asp)
c.-888+1010A>T (n.-888+1010A>T)
 gnomAD v4
17g.4933332T>CCA397318331CHRNE,GP1BAc.728T>C (p.Val243Ala)
c.-888+1010A>G (n.-888+1010A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933332T>GCA397318333CHRNE,GP1BAc.728T>G (p.Val243Gly)
c.-888+1010A>C (n.-888+1010A>C)
17g.4933332T=CA2244625510CHRNE,GP1BAc.728T= (p.Val243=)
c.-888+1010A= (n.-888+1010A=)
17g.4933333C>ACA497677270CHRNE,GP1BAc.729C>A (p.Val243=)
c.-888+1009G>T (n.-888+1009G>T)
17g.4933333C>GCA497677272CHRNE,GP1BAc.729C>G (p.Val243=)
c.-888+1009G>C (n.-888+1009G>C)
17g.4933333C>TCA497677273CHRNE,GP1BAc.729C>T (p.Val243=)
c.-888+1009G>A (n.-888+1009G>A)
17g.4933334T>ACA397318335CHRNE,GP1BAc.730T>A (p.Tyr244Asn)
c.-888+1008A>T (n.-888+1008A>T)
17g.4933334T>CCA397318337CHRNE,GP1BAc.730T>C (p.Tyr244His)
c.-888+1008A>G (n.-888+1008A>G)
17g.4933334T>GCA397318339CHRNE,GP1BAc.730T>G (p.Tyr244Asp)
c.-888+1008A>C (n.-888+1008A>C)
17g.4933335A>CCA397318344CHRNE,GP1BAc.731A>C (p.Tyr244Ser)
c.-888+1007T>G (n.-888+1007T>G)
17g.4933335A>GCA397318346CHRNE,GP1BAc.731A>G (p.Tyr244Cys)
c.-888+1007T>C (n.-888+1007T>C)
17g.4933335A>TCA397318341CHRNE,GP1BAc.731A>T (p.Tyr244Phe)
c.-888+1007T>A (n.-888+1007T>A)
17g.4933336C>ACA397318347CHRNE,GP1BAc.732C>A (p.Tyr244Ter)
c.-888+1006G>T (n.-888+1006G>T)
17g.4933336C=CA2244625511CHRNE,GP1BAc.732C= (p.Tyr244=)
c.-888+1006G= (n.-888+1006G=)
17g.4933336C>GCA397318349CHRNE,GP1BAc.732C>G (p.Tyr244Ter)
c.-888+1006G>C (n.-888+1006G>C)
17g.4933336C>TCA8314823CHRNE,GP1BAc.732C>T (p.Tyr244=)
c.-888+1006G>A (n.-888+1006G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933337G>ACA397318352CHRNE,GP1BAc.733G>A (p.Val245Ile)
c.-888+1005C>T (n.-888+1005C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933337G>CCA397318353CHRNE,GP1BAc.733G>C (p.Val245Leu)
c.-888+1005C>G (n.-888+1005C>G)
17g.4933337G=CA2244625512CHRNE,GP1BAc.733G= (p.Val245=)
c.-888+1005C= (n.-888+1005C=)
17g.4933337G>TCA397318354CHRNE,GP1BAc.733G>T (p.Val245Leu)
c.-888+1005C>A (n.-888+1005C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933338T>ACA397318355CHRNE,GP1BAc.734T>A (p.Val245Glu)
c.-888+1004A>T (n.-888+1004A>T)
17g.4933338T>CCA397318356CHRNE,GP1BAc.734T>C (p.Val245Ala)
c.-888+1004A>G (n.-888+1004A>G)
 gnomAD v4
17g.4933338T>GCA397318357CHRNE,GP1BAc.734T>G (p.Val245Gly)
c.-888+1004A>C (n.-888+1004A>C)
17g.4933339A=CA2244625513CHRNE,GP1BAc.735A= (p.Val245=)
c.-888+1003T= (n.-888+1003T=)
17g.4933339A>CCA497677282CHRNE,GP1BAc.735A>C (p.Val245=)
c.-888+1003T>G (n.-888+1003T>G)
17g.4933339A>GCA497677283CHRNE,GP1BAc.735A>G (p.Val245=)
c.-888+1003T>C (n.-888+1003T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933339A>TCA497677284CHRNE,GP1BAc.735A>T (p.Val245=)
c.-888+1003T>A (n.-888+1003T>A)
17g.4933340T>ACA397318358CHRNE,GP1BAc.736T>A (p.Trp246Arg)
c.-888+1002A>T (n.-888+1002A>T)
17g.4933340T>CCA397318360CHRNE,GP1BAc.736T>C (p.Trp246Arg)
c.-888+1002A>G (n.-888+1002A>G)
17g.4933340T>GCA397318361CHRNE,GP1BAc.736T>G (p.Trp246Gly)
c.-888+1002A>C (n.-888+1002A>C)
17g.4933341G>ACA397318364CHRNE,GP1BAc.737G>A (p.Trp246Ter)
c.-888+1001C>T (n.-888+1001C>T)
17g.4933341G>CCA397318365CHRNE,GP1BAc.737G>C (p.Trp246Ser)
c.-888+1001C>G (n.-888+1001C>G)
17g.4933341G>TCA397318363CHRNE,GP1BAc.737G>T (p.Trp246Leu)
c.-888+1001C>A (n.-888+1001C>A)
 ClinVar dbSNP
17g.4933342G>ACA397318366CHRNE,GP1BAc.738G>A (p.Trp246Ter)
c.-888+1000C>T (n.-888+1000C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933342G>CCA397318367CHRNE,GP1BAc.738G>C (p.Trp246Cys)
c.-888+1000C>G (n.-888+1000C>G)
17g.4933342G=CA2244625514CHRNE,GP1BAc.738G= (p.Trp246=)
c.-888+1000C= (n.-888+1000C=)
17g.4933342G>TCA397318368CHRNE,GP1BAc.738G>T (p.Trp246Cys)
c.-888+1000C>A (n.-888+1000C>A)
17g.4933343A>CCA397318370CHRNE,GP1BAc.739A>C (p.Lys247Gln)
c.-888+999T>G (n.-888+999T>G)
17g.4933343A>GCA397318371CHRNE,GP1BAc.739A>G (p.Lys247Glu)
c.-888+999T>C (n.-888+999T>C)
17g.4933343A>TCA397318373CHRNE,GP1BAc.739A>T (p.Lys247Ter)
c.-888+999T>A (n.-888+999T>A)
17g.4933344A>CCA397318376CHRNE,GP1BAc.740A>C (p.Lys247Thr)
c.-888+998T>G (n.-888+998T>G)
17g.4933344A>GCA397318379CHRNE,GP1BAc.740A>G (p.Lys247Arg)
c.-888+998T>C (n.-888+998T>C)
17g.4933344A>TCA397318377CHRNE,GP1BAc.740A>T (p.Lys247Met)
c.-888+998T>A (n.-888+998T>A)
17g.4933345G>ACA497677424CHRNE,GP1BAc.741G>A (p.Lys247=)
c.-888+997C>T (n.-888+997C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933345G>CCA397318382CHRNE,GP1BAc.741G>C (p.Lys247Asn)
c.-888+997C>G (n.-888+997C>G)
17g.4933345G=CA2244625515CHRNE,GP1BAc.741G= (p.Lys247=)
c.-888+997C= (n.-888+997C=)
17g.4933345G>TCA397318384CHRNE,GP1BAc.741G>T (p.Lys247Asn)
c.-888+997C>A (n.-888+997C>A)
17g.4933346C>ACA397318386CHRNE,GP1BAc.742C>A (p.Gln248Lys)
c.-888+996G>T (n.-888+996G>T)
 gnomAD v4
17g.4933346C>GCA397318389CHRNE,GP1BAc.742C>G (p.Gln248Glu)
c.-888+996G>C (n.-888+996G>C)
17g.4933346C>TCA397318391CHRNE,GP1BAc.742C>T (p.Gln248Ter)
c.-888+996G>A (n.-888+996G>A)
17g.4933347A>CCA397318398CHRNE,GP1BAc.743A>C (p.Gln248Pro)
c.-888+995T>G (n.-888+995T>G)
17g.4933347A>GCA397318399CHRNE,GP1BAc.743A>G (p.Gln248Arg)
c.-888+995T>C (n.-888+995T>C)
17g.4933347A>TCA397318393CHRNE,GP1BAc.743A>T (p.Gln248Leu)
c.-888+995T>A (n.-888+995T>A)
17g.4933348A>CCA397318401CHRNE,GP1BAc.744A>C (p.Gln248His)
c.-888+994T>G (n.-888+994T>G)
17g.4933348A>GCA497677434CHRNE,GP1BAc.744A>G (p.Gln248=)
c.-888+994T>C (n.-888+994T>C)
17g.4933348A>TCA397318400CHRNE,GP1BAc.744A>T (p.Gln248His)
c.-888+994T>A (n.-888+994T>A)
17g.4933349G>ACA397318402CHRNE,GP1BAc.745G>A (p.Gly249Ser)
c.-888+993C>T (n.-888+993C>T)
 ClinVar dbSNP
17g.4933349G>CCA397318404CHRNE,GP1BAc.745G>C (p.Gly249Arg)
c.-888+993C>G (n.-888+993C>G)
17g.4933349G=CA2244625516CHRNE,GP1BAc.745G= (p.Gly249=)
c.-888+993C= (n.-888+993C=)
17g.4933349G>TCA397318407CHRNE,GP1BAc.745G>T (p.Gly249Cys)
c.-888+993C>A (n.-888+993C>A)
 gnomAD v4
17g.4933350G>ACA397318410CHRNE,GP1BAc.746G>A (p.Gly249Asp)
c.-888+992C>T (n.-888+992C>T)
 ClinVar dbSNP gnomAD v4
17g.4933350G>CCA397318412CHRNE,GP1BAc.746G>C (p.Gly249Ala)
c.-888+992C>G (n.-888+992C>G)
 gnomAD v4
17g.4933350G=CA2244625517CHRNE,GP1BAc.746G= (p.Gly249=)
c.-888+992C= (n.-888+992C=)
17g.4933350G>TCA116659CHRNE,GP1BAc.746G>T (p.Gly249Val)
c.-888+992C>A (n.-888+992C>A)
 ClinVar dbSNP gnomAD v4
17g.4933351T>ACA497677438CHRNE,GP1BAc.747T>A (p.Gly249=)
c.-888+991A>T (n.-888+991A>T)
17g.4933351T>CCA497677442CHRNE,GP1BAc.747T>C (p.Gly249=)
c.-888+991A>G (n.-888+991A>G)
17g.4933351T>GCA497677441CHRNE,GP1BAc.747T>G (p.Gly249=)
c.-888+991A>C (n.-888+991A>C)
 dbSNP
17g.4933351T=CA2244625518CHRNE,GP1BAc.747T= (p.Gly249=)
c.-888+991A= (n.-888+991A=)
17g.4933352G>ACA287216455CHRNE,GP1BAc.748G>A (p.Val250Met)
c.-888+990C>T (n.-888+990C>T)
 dbSNP
17g.4933352G>CCA397318418CHRNE,GP1BAc.748G>C (p.Val250Leu)
c.-888+990C>G (n.-888+990C>G)
 COSMIC
17g.4933352G=CA2244625519CHRNE,GP1BAc.748G= (p.Val250=)
c.-888+990C= (n.-888+990C=)
17g.4933352G>TCA397318420CHRNE,GP1BAc.748G>T (p.Val250Leu)
c.-888+990C>A (n.-888+990C>A)
17g.4933353T>ACA397318423CHRNE,GP1BAc.749T>A (p.Val250Glu)
c.-888+989A>T (n.-888+989A>T)
17g.4933353T>CCA397318425CHRNE,GP1BAc.749T>C (p.Val250Ala)
c.-888+989A>G (n.-888+989A>G)
17g.4933353T>GCA397318428CHRNE,GP1BAc.749T>G (p.Val250Gly)
c.-888+989A>C (n.-888+989A>C)
17g.4933354G>ACA497677446CHRNE,GP1BAc.750G>A (p.Val250=)
c.-888+988C>T (n.-888+988C>T)
 dbSNP
17g.4933354G>CCA497677447CHRNE,GP1BAc.750G>C (p.Val250=)
c.-888+988C>G (n.-888+988C>G)
17g.4933354G=CA2244625520CHRNE,GP1BAc.750G= (p.Val250=)
c.-888+988C= (n.-888+988C=)
17g.4933354G>TCA497677448CHRNE,GP1BAc.750G>T (p.Val250=)
c.-888+988C>A (n.-888+988C>A)
17g.4933355G>ACA397318432CHRNE,GP1BAc.751G>A (p.Asp251Asn)
c.-888+987C>T (n.-888+987C>T)
17g.4933355G>CCA397318438CHRNE,GP1BAc.751G>C (p.Asp251His)
c.-888+987C>G (n.-888+987C>G)
17g.4933355G>TCA397318430CHRNE,GP1BAc.751G>T (p.Asp251Tyr)
c.-888+987C>A (n.-888+987C>A)
17g.4933356A>CCA397318441CHRNE,GP1BAc.752A>C (p.Asp251Ala)
c.-888+986T>G (n.-888+986T>G)
17g.4933356A>GCA397318443CHRNE,GP1BAc.752A>G (p.Asp251Gly)
c.-888+986T>C (n.-888+986T>C)
17g.4933356A>TCA397318445CHRNE,GP1BAc.752A>T (p.Asp251Val)
c.-888+986T>A (n.-888+986T>A)
17g.4933357C>ACA397318448CHRNE,GP1BAc.753C>A (p.Asp251Glu)
c.-888+985G>T (n.-888+985G>T)
 dbSNP
17g.4933357C=CA2244625521CHRNE,GP1BAc.753C= (p.Asp251=)
c.-888+985G= (n.-888+985G=)
17g.4933357C>GCA397318451CHRNE,GP1BAc.753C>G (p.Asp251Glu)
c.-888+985G>C (n.-888+985G>C)
17g.4933357C>TCA8314824CHRNE,GP1BAc.753C>T (p.Asp251=)
c.-888+985G>A (n.-888+985G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933358G>ACA287216484CHRNE,GP1BAc.754G>A (p.Val252Ile)
c.-888+984C>T (n.-888+984C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933358G>CCA397318460CHRNE,GP1BAc.754G>C (p.Val252Leu)
c.-888+984C>G (n.-888+984C>G)
17g.4933358G=CA2244625522CHRNE,GP1BAc.754G= (p.Val252=)
c.-888+984C= (n.-888+984C=)
17g.4933358G>TCA397318458CHRNE,GP1BAc.754G>T (p.Val252Phe)
c.-888+984C>A (n.-888+984C>A)
 gnomAD v4
17g.4933359T>ACA397318463CHRNE,GP1BAc.755T>A (p.Val252Asp)
c.-888+983A>T (n.-888+983A>T)
17g.4933359T>CCA397318466CHRNE,GP1BAc.755T>C (p.Val252Ala)
c.-888+983A>G (n.-888+983A>G)
 gnomAD v4
17g.4933359T>GCA397318468CHRNE,GP1BAc.755T>G (p.Val252Gly)
c.-888+983A>C (n.-888+983A>C)
 dbSNP
17g.4933359T=CA2244625523CHRNE,GP1BAc.755T= (p.Val252=)
c.-888+983A= (n.-888+983A=)
17g.4933360C>ACA497677457CHRNE,GP1BAc.756C>A (p.Val252=)
c.-888+982G>T (n.-888+982G>T)
17g.4933360C=CA2244625524CHRNE,GP1BAc.756C= (p.Val252=)
c.-888+982G= (n.-888+982G=)
17g.4933360C>GCA497677458CHRNE,GP1BAc.756C>G (p.Val252=)
c.-888+982G>C (n.-888+982G>C)
17g.4933360C>TCA8314825CHRNE,GP1BAc.756C>T (p.Val252=)
c.-888+982G>A (n.-888+982G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933361A>CCA397318476CHRNE,GP1BAc.757A>C (p.Lys253Gln)
c.-888+981T>G (n.-888+981T>G)
17g.4933361A>GCA397318474CHRNE,GP1BAc.757A>G (p.Lys253Glu)
c.-888+981T>C (n.-888+981T>C)
17g.4933361A>TCA397318471CHRNE,GP1BAc.757A>T (p.Lys253Ter)
c.-888+981T>A (n.-888+981T>A)
17g.4933362A>CCA397318479CHRNE,GP1BAc.758A>C (p.Lys253Thr)
c.-888+980T>G (n.-888+980T>G)
17g.4933362A>GCA397318482CHRNE,GP1BAc.758A>G (p.Lys253Arg)
c.-888+980T>C (n.-888+980T>C)
17g.4933362A>TCA397318484CHRNE,GP1BAc.758A>T (p.Lys253Met)
c.-888+980T>A (n.-888+980T>A)
17g.4933363G>ACA497677465CHRNE,GP1BAc.759G>A (p.Lys253=)
c.-888+979C>T (n.-888+979C>T)
17g.4933363G>CCA397318488CHRNE,GP1BAc.759G>C (p.Lys253Asn)
c.-888+979C>G (n.-888+979C>G)
17g.4933363G>TCA397318489CHRNE,GP1BAc.759G>T (p.Lys253Asn)
c.-888+979C>A (n.-888+979C>A)
17g.4933364G>ACA397318492CHRNE,GP1BAc.760G>A (p.Ala254Thr)
c.-888+978C>T (n.-888+978C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933364G>CCA397318495CHRNE,GP1BAc.760G>C (p.Ala254Pro)
c.-888+978C>G (n.-888+978C>G)
17g.4933364G=CA2244625525CHRNE,GP1BAc.760G= (p.Ala254=)
c.-888+978C= (n.-888+978C=)
17g.4933364G>TCA287216497CHRNE,GP1BAc.760G>T (p.Ala254Ser)
c.-888+978C>A (n.-888+978C>A)
 dbSNP
17g.4933365C>ACA397318501CHRNE,GP1BAc.761C>A (p.Ala254Asp)
c.-888+977G>T (n.-888+977G>T)
17g.4933365C>GCA397318505CHRNE,GP1BAc.761C>G (p.Ala254Gly)
c.-888+977G>C (n.-888+977G>C)
17g.4933365C>TCA397318504CHRNE,GP1BAc.761C>T (p.Ala254Val)
c.-888+977G>A (n.-888+977G>A)
17g.4933366C>ACA497677467CHRNE,GP1BAc.762C>A (p.Ala254=)
c.-888+976G>T (n.-888+976G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933366C=CA2244625526CHRNE,GP1BAc.762C= (p.Ala254=)
c.-888+976G= (n.-888+976G=)
17g.4933366C>GCA497677469CHRNE,GP1BAc.762C>G (p.Ala254=)
c.-888+976G>C (n.-888+976G>C)
17g.4933366C>TCA8314826CHRNE,GP1BAc.762C>T (p.Ala254=)
c.-888+976G>A (n.-888+976G>A)
 dbSNP ExAC gnomAD v4
17g.4933367A=CA2244625527CHRNE,GP1BAc.763A= (p.Met255=)
c.-888+975T= (n.-888+975T=)
17g.4933367A>CCA397318509CHRNE,GP1BAc.763A>C (p.Met255Leu)
c.-888+975T>G (n.-888+975T>G)
17g.4933367A>GCA116661CHRNE,GP1BAc.763A>G (p.Met255Val)
c.-888+975T>C (n.-888+975T>C)
 ClinVar dbSNP
17g.4933367A>TCA397318512CHRNE,GP1BAc.763A>T (p.Met255Leu)
c.-888+975T>A (n.-888+975T>A)
17g.4933368T>ACA397318515CHRNE,GP1BAc.764T>A (p.Met255Lys)
c.-888+974A>T (n.-888+974A>T)
17g.4933368T>CCA397318520CHRNE,GP1BAc.764T>C (p.Met255Thr)
c.-888+974A>G (n.-888+974A>G)
 gnomAD v4
17g.4933368T>GCA397318518CHRNE,GP1BAc.764T>G (p.Met255Arg)
c.-888+974A>C (n.-888+974A>C)
17g.4933369G>ACA397318522CHRNE,GP1BAc.765G>A (p.Met255Ile)
c.-888+973C>T (n.-888+973C>T)
 gnomAD v4
17g.4933369G>CCA397318525CHRNE,GP1BAc.765G>C (p.Met255Ile)
c.-888+973C>G (n.-888+973C>G)
17g.4933369G>TCA397318528CHRNE,GP1BAc.765G>T (p.Met255Ile)
c.-888+973C>A (n.-888+973C>A)
17g.4933370A=CA2244625528CHRNE,GP1BAc.766A= (p.Thr256=)
c.-888+972T= (n.-888+972T=)
17g.4933370A>CCA397318531CHRNE,GP1BAc.766A>C (p.Thr256Pro)
c.-888+972T>G (n.-888+972T>G)
 dbSNP
17g.4933370A>GCA397318532CHRNE,GP1BAc.766A>G (p.Thr256Ala)
c.-888+972T>C (n.-888+972T>C)
17g.4933370A>TCA397318534CHRNE,GP1BAc.766A>T (p.Thr256Ser)
c.-888+972T>A (n.-888+972T>A)
17g.4933371C>ACA397318536CHRNE,GP1BAc.767C>A (p.Thr256Asn)
c.-888+971G>T (n.-888+971G>T)
 dbSNP
17g.4933371C=CA2244625529CHRNE,GP1BAc.767C= (p.Thr256=)
c.-888+971G= (n.-888+971G=)
17g.4933371C>GCA397318539CHRNE,GP1BAc.767C>G (p.Thr256Ser)
c.-888+971G>C (n.-888+971G>C)
17g.4933371C>TCA397318542CHRNE,GP1BAc.767C>T (p.Thr256Ile)
c.-888+971G>A (n.-888+971G>A)
 gnomAD v4
17g.4933372C>ACA497677473CHRNE,GP1BAc.768C>A (p.Thr256=)
c.-888+970G>T (n.-888+970G>T)
17g.4933372C>GCA497677474CHRNE,GP1BAc.768C>G (p.Thr256=)
c.-888+970G>C (n.-888+970G>C)
 gnomAD v4
17g.4933372C>TCA497677475CHRNE,GP1BAc.768C>T (p.Thr256=)
c.-888+970G>A (n.-888+970G>A)
 dbSNP
17g.4933373T>ACA397318544CHRNE,GP1BAc.769T>A (p.Ser257Thr)
c.-888+969A>T (n.-888+969A>T)
17g.4933373T>CCA397318545CHRNE,GP1BAc.769T>C (p.Ser257Pro)
c.-888+969A>G (n.-888+969A>G)
17g.4933373T>GCA397318547CHRNE,GP1BAc.769T>G (p.Ser257Ala)
c.-888+969A>C (n.-888+969A>C)
17g.4933374C>ACA397318553CHRNE,GP1BAc.770C>A (p.Ser257Tyr)
c.-888+968G>T (n.-888+968G>T)
17g.4933374C>GCA397318550CHRNE,GP1BAc.770C>G (p.Ser257Cys)
c.-888+968G>C (n.-888+968G>C)
17g.4933374C>TCA397318549CHRNE,GP1BAc.770C>T (p.Ser257Phe)
c.-888+968G>A (n.-888+968G>A)
 COSMIC
17g.4933375T>ACA497677477CHRNE,GP1BAc.771T>A (p.Ser257=)
c.-888+967A>T (n.-888+967A>T)
 dbSNP
17g.4933375T>CCA497677478CHRNE,GP1BAc.771T>C (p.Ser257=)
c.-888+967A>G (n.-888+967A>G)
17g.4933375T>GCA497677479CHRNE,GP1BAc.771T>G (p.Ser257=)
c.-888+967A>C (n.-888+967A>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933375T=CA2244625530CHRNE,GP1BAc.771T= (p.Ser257=)
c.-888+967A= (n.-888+967A=)
17g.4933376A>CCA397318554CHRNE,GP1BAc.772A>C (p.Asn258His)
c.-888+966T>G (n.-888+966T>G)
17g.4933376A>GCA397318558CHRNE,GP1BAc.772A>G (p.Asn258Asp)
c.-888+966T>C (n.-888+966T>C)
17g.4933376A>TCA397318556CHRNE,GP1BAc.772A>T (p.Asn258Tyr)
c.-888+966T>A (n.-888+966T>A)
17g.4933377A>CCA397318561CHRNE,GP1BAc.773A>C (p.Asn258Thr)
c.-888+965T>G (n.-888+965T>G)
17g.4933377A>GCA397318565CHRNE,GP1BAc.773A>G (p.Asn258Ser)
c.-888+965T>C (n.-888+965T>C)
17g.4933377A>TCA397318562CHRNE,GP1BAc.773A>T (p.Asn258Ile)
c.-888+965T>A (n.-888+965T>A)
17g.4933378C>ACA397318566CHRNE,GP1BAc.774C>A (p.Asn258Lys)
c.-888+964G>T (n.-888+964G>T)
17g.4933378C=CA2244625531CHRNE,GP1BAc.774C= (p.Asn258=)
c.-888+964G= (n.-888+964G=)
17g.4933378C>GCA397318570CHRNE,GP1BAc.774C>G (p.Asn258Lys)
c.-888+964G>C (n.-888+964G>C)
17g.4933378C>TCA8314827CHRNE,GP1BAc.774C>T (p.Asn258=)
c.-888+964G>A (n.-888+964G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933379G>ACA8314828CHRNE,GP1BAc.775G>A (p.Val259Met)
c.-888+963C>T (n.-888+963C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933379G>CCA8314829CHRNE,GP1BAc.775G>C (p.Val259Leu)
c.-888+963C>G (n.-888+963C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933379G=CA2244625532CHRNE,GP1BAc.775G= (p.Val259=)
c.-888+963C= (n.-888+963C=)
17g.4933379G>TCA397318574CHRNE,GP1BAc.775G>T (p.Val259Leu)
c.-888+963C>A (n.-888+963C>A)
17g.4933380T>ACA397318580CHRNE,GP1BAc.776T>A (p.Val259Glu)
c.-888+962A>T (n.-888+962A>T)
17g.4933380T>CCA397318582CHRNE,GP1BAc.776T>C (p.Val259Ala)
c.-888+962A>G (n.-888+962A>G)
17g.4933380T>GCA397318585CHRNE,GP1BAc.776T>G (p.Val259Gly)
c.-888+962A>C (n.-888+962A>C)
17g.4933380T=CA2244625533CHRNE,GP1BAc.776T= (p.Val259=)
c.-888+962A= (n.-888+962A=)
17g.4933381G>ACA287216544CHRNE,GP1BAc.777G>A (p.Val259=)
c.-888+961C>T (n.-888+961C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933381G>CCA497677488CHRNE,GP1BAc.777G>C (p.Val259=)
c.-888+961C>G (n.-888+961C>G)
17g.4933381G=CA2244625534CHRNE,GP1BAc.777G= (p.Val259=)
c.-888+961C= (n.-888+961C=)
17g.4933381G>TCA497677489CHRNE,GP1BAc.777G>T (p.Val259=)
c.-888+961C>A (n.-888+961C>A)
17g.4933382dupCA287216529CHRNE,GP1BAc.778dup (p.Ala260GlyfsTer6)
c.-888+961dup (n.-888+961dup)
 dbSNP
17g.4933382G>ACA397318591CHRNE,GP1BAc.778G>A (p.Ala260Thr)
c.-888+960C>T (n.-888+960C>T)
 COSMIC
17g.4933382G>CCA397318593CHRNE,GP1BAc.778G>C (p.Ala260Pro)
c.-888+960C>G (n.-888+960C>G)
17g.4933382G>TCA397318596CHRNE,GP1BAc.778G>T (p.Ala260Ser)
c.-888+960C>A (n.-888+960C>A)
17g.4933383C>ACA397318598CHRNE,GP1BAc.779C>A (p.Ala260Asp)
c.-888+959G>T (n.-888+959G>T)
 gnomAD v4
17g.4933383C>GCA397318600CHRNE,GP1BAc.779C>G (p.Ala260Gly)
c.-888+959G>C (n.-888+959G>C)
17g.4933383C>TCA397318601CHRNE,GP1BAc.779C>T (p.Ala260Val)
c.-888+959G>A (n.-888+959G>A)
17g.4933384C>ACA497677492CHRNE,GP1BAc.780C>A (p.Ala260=)
c.-888+958G>T (n.-888+958G>T)
17g.4933384C>GCA497677494CHRNE,GP1BAc.780C>G (p.Ala260=)
c.-888+958G>C (n.-888+958G>C)
17g.4933384C>TCA497677495CHRNE,GP1BAc.780C>T (p.Ala260=)
c.-888+958G>A (n.-888+958G>A)
17g.4933385A>CCA397318605CHRNE,GP1BAc.781A>C (p.Ser261Arg)
c.-888+957T>G (n.-888+957T>G)
17g.4933385A>GCA397318604CHRNE,GP1BAc.781A>G (p.Ser261Gly)
c.-888+957T>C (n.-888+957T>C)
17g.4933385A>TCA397318603CHRNE,GP1BAc.781A>T (p.Ser261Cys)
c.-888+957T>A (n.-888+957T>A)
17g.4933386G>ACA397318606CHRNE,GP1BAc.782G>A (p.Ser261Asn)
c.-888+956C>T (n.-888+956C>T)
17g.4933386G>CCA397318607CHRNE,GP1BAc.782G>C (p.Ser261Thr)
c.-888+956C>G (n.-888+956C>G)
17g.4933386G>TCA397318608CHRNE,GP1BAc.782G>T (p.Ser261Ile)
c.-888+956C>A (n.-888+956C>A)
17g.4933387T>ACA397318610CHRNE,GP1BAc.783T>A (p.Ser261Arg)
c.-888+955A>T (n.-888+955A>T)
 gnomAD v4
17g.4933387T>CCA497677497CHRNE,GP1BAc.783T>C (p.Ser261=)
c.-888+955A>G (n.-888+955A>G)
 dbSNP gnomAD v4
17g.4933387T>GCA397318611CHRNE,GP1BAc.783T>G (p.Ser261Arg)
c.-888+955A>C (n.-888+955A>C)
17g.4933387T=CA2244625535CHRNE,GP1BAc.783T= (p.Ser261=)
c.-888+955A= (n.-888+955A=)
17g.4933388G>ACA397318612CHRNE,GP1BAc.784G>A (p.Val262Met)
c.-888+954C>T (n.-888+954C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933388G>CCA397318613CHRNE,GP1BAc.784G>C (p.Val262Leu)
c.-888+954C>G (n.-888+954C>G)
17g.4933388G=CA2244625536CHRNE,GP1BAc.784G= (p.Val262=)
c.-888+954C= (n.-888+954C=)
17g.4933388G>TCA397318615CHRNE,GP1BAc.784G>T (p.Val262Leu)
c.-888+954C>A (n.-888+954C>A)
17g.4933389T>ACA397318619CHRNE,GP1BAc.785T>A (p.Val262Glu)
c.-888+953A>T (n.-888+953A>T)
17g.4933389T>CCA397318620CHRNE,GP1BAc.785T>C (p.Val262Ala)
c.-888+953A>G (n.-888+953A>G)
 dbSNP gnomAD v4
17g.4933389T>GCA397318622CHRNE,GP1BAc.785T>G (p.Val262Gly)
c.-888+953A>C (n.-888+953A>C)
17g.4933389T=CA2244625537CHRNE,GP1BAc.785T= (p.Val262=)
c.-888+953A= (n.-888+953A=)
17g.4933390G>ACA497677501CHRNE,GP1BAc.786G>A (p.Val262=)
c.-888+952C>T (n.-888+952C>T)
17g.4933390G>CCA497677502CHRNE,GP1BAc.786G>C (p.Val262=)
c.-888+952C>G (n.-888+952C>G)
 gnomAD v4
17g.4933390G>TCA497677504CHRNE,GP1BAc.786G>T (p.Val262=)
c.-888+952C>A (n.-888+952C>A)
17g.4933391C>ACA397318634CHRNE,GP1BAc.787C>A (p.Gln263Lys)
c.-888+951G>T (n.-888+951G>T)
 dbSNP gnomAD v4
17g.4933391C=CA2244625538CHRNE,GP1BAc.787C= (p.Gln263=)
c.-888+951G= (n.-888+951G=)
17g.4933391C>GCA397318631CHRNE,GP1BAc.787C>G (p.Gln263Glu)
c.-888+951G>C (n.-888+951G>C)
17g.4933391C>TCA397318626CHRNE,GP1BAc.787C>T (p.Gln263Ter)
c.-888+951G>A (n.-888+951G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933392A=CA2244625539CHRNE,GP1BAc.788A= (p.Gln263=)
c.-888+950T= (n.-888+950T=)
17g.4933392A>CCA397318638CHRNE,GP1BAc.788A>C (p.Gln263Pro)
c.-888+950T>G (n.-888+950T>G)
 dbSNP
17g.4933392A>GCA8314830CHRNE,GP1BAc.788A>G (p.Gln263Arg)
c.-888+950T>C (n.-888+950T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933392A>TCA397318643CHRNE,GP1BAc.788A>T (p.Gln263Leu)
c.-888+950T>A (n.-888+950T>A)
17g.4933393G>ACA8314831CHRNE,GP1BAc.789G>A (p.Gln263=)
c.-888+949C>T (n.-888+949C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933393G>CCA397318647CHRNE,GP1BAc.789G>C (p.Gln263His)
c.-888+949C>G (n.-888+949C>G)
17g.4933393G=CA2244625540CHRNE,GP1BAc.789G= (p.Gln263=)
c.-888+949C= (n.-888+949C=)
17g.4933393G>TCA397318650CHRNE,GP1BAc.789G>T (p.Gln263His)
c.-888+949C>A (n.-888+949C>A)
17g.4933394T>ACA397318653CHRNE,GP1BAc.790T>A (p.Cys264Ser)
c.-888+948A>T (n.-888+948A>T)
17g.4933394T>CCA397318655CHRNE,GP1BAc.790T>C (p.Cys264Arg)
c.-888+948A>G (n.-888+948A>G)
17g.4933394T>GCA397318658CHRNE,GP1BAc.790T>G (p.Cys264Gly)
c.-888+948A>C (n.-888+948A>C)
17g.4933395G>ACA397318661CHRNE,GP1BAc.791G>A (p.Cys264Tyr)
c.-888+947C>T (n.-888+947C>T)
17g.4933395G>CCA397318663CHRNE,GP1BAc.791G>C (p.Cys264Ser)
c.-888+947C>G (n.-888+947C>G)
17g.4933395G>TCA397318665CHRNE,GP1BAc.791G>T (p.Cys264Phe)
c.-888+947C>A (n.-888+947C>A)
17g.4933396T>ACA397318668CHRNE,GP1BAc.792T>A (p.Cys264Ter)
c.-888+946A>T (n.-888+946A>T)
 dbSNP
17g.4933396T>CCA497677510CHRNE,GP1BAc.792T>C (p.Cys264=)
c.-888+946A>G (n.-888+946A>G)
17g.4933396T>GCA397318666CHRNE,GP1BAc.792T>G (p.Cys264Trp)
c.-888+946A>C (n.-888+946A>C)
17g.4933396T=CA2244625541CHRNE,GP1BAc.792T= (p.Cys264=)
c.-888+946A= (n.-888+946A=)

Number of alleles fetched