Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.132296911G>ACA5296878SETXc.5925C>T (p.Gly1975=)
c.651C>T (p.Gly217=)
n.5841C>T
c.378C>T (p.Gly126=)
n.5480C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.132296911G>CCA467428469SETXc.5925C>G (p.Gly1975=)
c.651C>G (p.Gly217=)
n.5841C>G
c.378C>G (p.Gly126=)
n.5480C>G
9g.132296911G=CA1882092059SETXc.5925C= (p.Gly1975=)
c.651C= (p.Gly217=)
n.5841C=
c.378C= (p.Gly126=)
n.5480C=
9g.132296911G>TCA467428470SETXc.5925C>A (p.Gly1975=)
c.651C>A (p.Gly217=)
n.5841C>A
c.378C>A (p.Gly126=)
n.5480C>A
9g.132296912C>ACA375343788SETXc.5924G>T (p.Gly1975Val)
c.650G>T (p.Gly217Val)
n.5840G>T
c.377G>T (p.Gly126Val)
n.5479G>T
9g.132296912C>GCA375343791SETXc.5924G>C (p.Gly1975Ala)
c.650G>C (p.Gly217Ala)
n.5840G>C
c.377G>C (p.Gly126Ala)
n.5479G>C
9g.132296912C>TCA375343794SETXc.5924G>A (p.Gly1975Asp)
c.650G>A (p.Gly217Asp)
n.5840G>A
c.377G>A (p.Gly126Asp)
n.5479G>A
9g.132296912_132296915delinsCCAACA1882092060SETXc.5921_5924delinsTTGG (p.Val1974=)
c.647_650delinsTTGG (p.Val216=)
n.5837_5840delinsTTGG
c.374_377delinsTTGG (p.Val125=)
n.5476_5479delinsTTGG
9g.132296913C>ACA375343799SETXc.5923G>T (p.Gly1975Cys)
c.649G>T (p.Gly217Cys)
n.5839G>T
c.376G>T (p.Gly126Cys)
n.5478G>T
9g.132296913C>GCA375343802SETXc.5923G>C (p.Gly1975Arg)
c.649G>C (p.Gly217Arg)
n.5839G>C
c.376G>C (p.Gly126Arg)
n.5478G>C
9g.132296913C>TCA375343807SETXc.5923G>A (p.Gly1975Ser)
c.649G>A (p.Gly217Ser)
n.5839G>A
c.376G>A (p.Gly126Ser)
n.5478G>A
 gnomAD v4
9g.132296916_132296918delCA1882092061SETXc.5921_5923del (p.Val1974del)
c.647_649del (p.Val216del)
n.5837_5839del
c.374_376del (p.Val125del)
n.5476_5478del
 dbSNP
9g.132296914A>CCA467428471SETXc.5922T>G (p.Val1974=)
c.648T>G (p.Val216=)
n.5838T>G
c.375T>G (p.Val125=)
n.5477T>G
9g.132296914A>GCA467428473SETXc.5922T>C (p.Val1974=)
c.648T>C (p.Val216=)
n.5838T>C
c.375T>C (p.Val125=)
n.5477T>C
9g.132296914A>TCA467428472SETXc.5922T>A (p.Val1974=)
c.648T>A (p.Val216=)
n.5838T>A
c.375T>A (p.Val125=)
n.5477T>A
9g.132296915A>CCA375343817SETXc.5921T>G (p.Val1974Gly)
c.647T>G (p.Val216Gly)
n.5837T>G
c.374T>G (p.Val125Gly)
n.5476T>G
 gnomAD v4
9g.132296915A>GCA375343820SETXc.5921T>C (p.Val1974Ala)
c.647T>C (p.Val216Ala)
n.5837T>C
c.374T>C (p.Val125Ala)
n.5476T>C
9g.132296915A>TCA375343822SETXc.5921T>A (p.Val1974Asp)
c.647T>A (p.Val216Asp)
n.5837T>A
c.374T>A (p.Val125Asp)
n.5476T>A
9g.132296916C>ACA375343839SETXc.5920G>T (p.Val1974Phe)
c.646G>T (p.Val216Phe)
n.5836G>T
c.373G>T (p.Val125Phe)
n.5475G>T
9g.132296916C>GCA375343837SETXc.5920G>C (p.Val1974Leu)
c.646G>C (p.Val216Leu)
n.5836G>C
c.373G>C (p.Val125Leu)
n.5475G>C
9g.132296916C>TCA375343834SETXc.5920G>A (p.Val1974Ile)
c.646G>A (p.Val216Ile)
n.5836G>A
c.373G>A (p.Val125Ile)
n.5475G>A
9g.132296917A>CCA375343842SETXc.5919T>G (p.Ile1973Met)
c.645T>G (p.Ile215Met)
n.5835T>G
c.372T>G (p.Ile124Met)
n.5474T>G
9g.132296917A>GCA467428474SETXc.5919T>C (p.Ile1973=)
c.645T>C (p.Ile215=)
n.5835T>C
c.372T>C (p.Ile124=)
n.5474T>C
9g.132296917A>TCA467428475SETXc.5919T>A (p.Ile1973=)
c.645T>A (p.Ile215=)
n.5835T>A
c.372T>A (p.Ile124=)
n.5474T>A
 gnomAD v4
9g.132296918A=CA1882092062SETXc.5918T= (p.Ile1973=)
c.644T= (p.Ile215=)
n.5834T=
c.371T= (p.Ile124=)
n.5473T=
9g.132296918A>CCA375343844SETXc.5918T>G (p.Ile1973Ser)
c.644T>G (p.Ile215Ser)
n.5834T>G
c.371T>G (p.Ile124Ser)
n.5473T>G
9g.132296918A>GCA375343845SETXc.5918T>C (p.Ile1973Thr)
c.644T>C (p.Ile215Thr)
n.5834T>C
c.371T>C (p.Ile124Thr)
n.5473T>C
 dbSNP
9g.132296918A>TCA375343846SETXc.5918T>A (p.Ile1973Asn)
c.644T>A (p.Ile215Asn)
n.5834T>A
c.371T>A (p.Ile124Asn)
n.5473T>A
9g.132296919T>ACA375343847SETXc.5917A>T (p.Ile1973Phe)
c.643A>T (p.Ile215Phe)
n.5833A>T
c.370A>T (p.Ile124Phe)
n.5472A>T
9g.132296919T>CCA375343848SETXc.5917A>G (p.Ile1973Val)
c.643A>G (p.Ile215Val)
n.5833A>G
c.370A>G (p.Ile124Val)
n.5472A>G
 dbSNP gnomAD v2 gnomAD v4
9g.132296919T>GCA375343850SETXc.5917A>C (p.Ile1973Leu)
c.643A>C (p.Ile215Leu)
n.5833A>C
c.370A>C (p.Ile124Leu)
n.5472A>C
9g.132296919T=CA1882092063SETXc.5917A= (p.Ile1973=)
c.643A= (p.Ile215=)
n.5833A=
c.370A= (p.Ile124=)
n.5472A=
9g.132296920A>CCA467428476SETXc.5916T>G (p.Thr1972=)
c.642T>G (p.Thr214=)
n.5832T>G
c.369T>G (p.Thr123=)
n.5471T>G
9g.132296920A>GCA467428477SETXc.5916T>C (p.Thr1972=)
c.642T>C (p.Thr214=)
n.5832T>C
c.369T>C (p.Thr123=)
n.5471T>C
9g.132296920A>TCA467428478SETXc.5916T>A (p.Thr1972=)
c.642T>A (p.Thr214=)
n.5832T>A
c.369T>A (p.Thr123=)
n.5471T>A
9g.132296921G>ACA375343851SETXc.5915C>T (p.Thr1972Ile)
c.641C>T (p.Thr214Ile)
n.5831C>T
c.368C>T (p.Thr123Ile)
n.5470C>T
9g.132296921G>CCA375343853SETXc.5915C>G (p.Thr1972Ser)
c.641C>G (p.Thr214Ser)
n.5831C>G
c.368C>G (p.Thr123Ser)
n.5470C>G
9g.132296921G>TCA375343855SETXc.5915C>A (p.Thr1972Asn)
c.641C>A (p.Thr214Asn)
n.5831C>A
c.368C>A (p.Thr123Asn)
n.5470C>A
9g.132296922T>ACA375343859SETXc.5914A>T (p.Thr1972Ser)
c.640A>T (p.Thr214Ser)
n.5830A>T
c.367A>T (p.Thr123Ser)
n.5469A>T
9g.132296922T>CCA375343862SETXc.5914A>G (p.Thr1972Ala)
c.640A>G (p.Thr214Ala)
n.5830A>G
c.367A>G (p.Thr123Ala)
n.5469A>G
9g.132296922T>GCA375343865SETXc.5914A>C (p.Thr1972Pro)
c.640A>C (p.Thr214Pro)
n.5830A>C
c.367A>C (p.Thr123Pro)
n.5469A>C
9g.132296923T>ACA375343868SETXc.5913A>T (p.Lys1971Asn)
c.639A>T (p.Lys213Asn)
n.5829A>T
c.366A>T (p.Lys122Asn)
n.5468A>T
9g.132296923T>CCA467428480SETXc.5913A>G (p.Lys1971=)
c.639A>G (p.Lys213=)
n.5829A>G
c.366A>G (p.Lys122=)
n.5468A>G
9g.132296923T>GCA375343867SETXc.5913A>C (p.Lys1971Asn)
c.639A>C (p.Lys213Asn)
n.5829A>C
c.366A>C (p.Lys122Asn)
n.5468A>C
9g.132296924T>ACA375343870SETXc.5912A>T (p.Lys1971Ile)
c.638A>T (p.Lys213Ile)
n.5828A>T
c.365A>T (p.Lys122Ile)
n.5467A>T
9g.132296924T>CCA375343874SETXc.5912A>G (p.Lys1971Arg)
c.638A>G (p.Lys213Arg)
n.5828A>G
c.365A>G (p.Lys122Arg)
n.5467A>G
 gnomAD v4
9g.132296924T>GCA375343872SETXc.5912A>C (p.Lys1971Thr)
c.638A>C (p.Lys213Thr)
n.5828A>C
c.365A>C (p.Lys122Thr)
n.5467A>C
9g.132296925T>ACA375343878SETXc.5911A>T (p.Lys1971Ter)
c.637A>T (p.Lys213Ter)
n.5827A>T
c.364A>T (p.Lys122Ter)
n.5466A>T
9g.132296925T>CCA200818921SETXc.5911A>G (p.Lys1971Glu)
c.637A>G (p.Lys213Glu)
n.5827A>G
c.364A>G (p.Lys122Glu)
n.5466A>G
 dbSNP gnomAD v3 gnomAD v4
9g.132296925T>GCA375343885SETXc.5911A>C (p.Lys1971Gln)
c.637A>C (p.Lys213Gln)
n.5827A>C
c.364A>C (p.Lys122Gln)
n.5466A>C
9g.132296925T=CA1882092064SETXc.5911A= (p.Lys1971=)
c.637A= (p.Lys213=)
n.5827A=
c.364A= (p.Lys122=)
n.5466A=
9g.132296926T>ACA467428481SETXc.5910A>T (p.Ser1970=)
c.636A>T (p.Ser212=)
n.5826A>T
c.363A>T (p.Ser121=)
n.5465A>T
9g.132296926T>CCA467428483SETXc.5910A>G (p.Ser1970=)
c.636A>G (p.Ser212=)
n.5826A>G
c.363A>G (p.Ser121=)
n.5465A>G
 gnomAD v4
9g.132296926T>GCA467428482SETXc.5910A>C (p.Ser1970=)
c.636A>C (p.Ser212=)
n.5826A>C
c.363A>C (p.Ser121=)
n.5465A>C
9g.132296927G>ACA5296879SETXc.5909C>T (p.Ser1970Leu)
c.635C>T (p.Ser212Leu)
n.5825C>T
c.362C>T (p.Ser121Leu)
n.5464C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.132296927G>CCA375343889SETXc.5909C>G (p.Ser1970Ter)
c.635C>G (p.Ser212Ter)
n.5825C>G
c.362C>G (p.Ser121Ter)
n.5464C>G
9g.132296927G=CA1882092065SETXc.5909C= (p.Ser1970=)
c.635C= (p.Ser212=)
n.5825C=
c.362C= (p.Ser121=)
n.5464C=
9g.132296927G>TCA375343891SETXc.5909C>A (p.Ser1970Ter)
c.635C>A (p.Ser212Ter)
n.5825C>A
c.362C>A (p.Ser121Ter)
n.5464C>A
 gnomAD v4
9g.132296928A>CCA375343894SETXc.5908T>G (p.Ser1970Ala)
c.634T>G (p.Ser212Ala)
n.5824T>G
c.361T>G (p.Ser121Ala)
n.5463T>G
9g.132296928A>GCA375343898SETXc.5908T>C (p.Ser1970Pro)
c.634T>C (p.Ser212Pro)
n.5824T>C
c.361T>C (p.Ser121Pro)
n.5463T>C
9g.132296928A>TCA375343910SETXc.5908T>A (p.Ser1970Thr)
c.634T>A (p.Ser212Thr)
n.5824T>A
c.361T>A (p.Ser121Thr)
n.5463T>A
9g.132296929T>ACA375343914SETXc.5907A>T (p.Lys1969Asn)
c.633A>T (p.Lys211Asn)
n.5823A>T
c.360A>T (p.Lys120Asn)
n.5462A>T
9g.132296929T>CCA467428484SETXc.5907A>G (p.Lys1969=)
c.633A>G (p.Lys211=)
n.5823A>G
c.360A>G (p.Lys120=)
n.5462A>G
9g.132296929T>GCA375343919SETXc.5907A>C (p.Lys1969Asn)
c.633A>C (p.Lys211Asn)
n.5823A>C
c.360A>C (p.Lys120Asn)
n.5462A>C
9g.132296930T>ACA375343926SETXc.5906A>T (p.Lys1969Ile)
c.632A>T (p.Lys211Ile)
n.5822A>T
c.359A>T (p.Lys120Ile)
n.5461A>T
9g.132296930T>CCA375343925SETXc.5906A>G (p.Lys1969Arg)
c.632A>G (p.Lys211Arg)
n.5822A>G
c.359A>G (p.Lys120Arg)
n.5461A>G
9g.132296930T>GCA375343923SETXc.5906A>C (p.Lys1969Thr)
c.632A>C (p.Lys211Thr)
n.5822A>C
c.359A>C (p.Lys120Thr)
n.5461A>C
9g.132296931T>ACA375343929SETXc.5905A>T (p.Lys1969Ter)
c.631A>T (p.Lys211Ter)
n.5821A>T
c.358A>T (p.Lys120Ter)
n.5460A>T
9g.132296931T>CCA375343932SETXc.5905A>G (p.Lys1969Glu)
c.631A>G (p.Lys211Glu)
n.5821A>G
c.358A>G (p.Lys120Glu)
n.5460A>G
9g.132296931T>GCA375343933SETXc.5905A>C (p.Lys1969Gln)
c.631A>C (p.Lys211Gln)
n.5821A>C
c.358A>C (p.Lys120Gln)
n.5460A>C
9g.132296931T=CA1882092066SETXc.5905A= (p.Lys1969=)
c.631A= (p.Lys211=)
n.5821A=
c.358A= (p.Lys120=)
n.5460A=
9g.132296931_132296932insGTATATATTTTTTACA1882092067SETXc.5904_5905insTAAAAAATATATAC (p.Lys1969Ter)
c.630_631insTAAAAAATATATAC (p.Lys211Ter)
n.5820_5821insTAAAAAATATATAC
c.357_358insTAAAAAATATATAC (p.Lys120Ter)
n.5459_5460insTAAAAAATATATAC
 dbSNP
9g.132296932T>ACA467428485SETXc.5904A>T (p.Gly1968=)
c.630A>T (p.Gly210=)
n.5820A>T
c.357A>T (p.Gly119=)
n.5459A>T
9g.132296932T>CCA467428487SETXc.5904A>G (p.Gly1968=)
c.630A>G (p.Gly210=)
n.5820A>G
c.357A>G (p.Gly119=)
n.5459A>G
9g.132296932T>GCA467428486SETXc.5904A>C (p.Gly1968=)
c.630A>C (p.Gly210=)
n.5820A>C
c.357A>C (p.Gly119=)
n.5459A>C
9g.132296933_132296935delCA2692254066SETXc.5902_5904del (p.Gly1968del)
c.628_630del (p.Gly210del)
n.5818_5820del
c.355_357del (p.Gly119del)
n.5457_5459del
 gnomAD v4
9g.132296933C>ACA375343935SETXc.5903G>T (p.Gly1968Val)
c.629G>T (p.Gly210Val)
n.5819G>T
c.356G>T (p.Gly119Val)
n.5458G>T
9g.132296933C>GCA375343936SETXc.5903G>C (p.Gly1968Ala)
c.629G>C (p.Gly210Ala)
n.5819G>C
c.356G>C (p.Gly119Ala)
n.5458G>C
9g.132296933C>TCA375343938SETXc.5903G>A (p.Gly1968Glu)
c.629G>A (p.Gly210Glu)
n.5819G>A
c.356G>A (p.Gly119Glu)
n.5458G>A
9g.132296933_132296941delCA2695211638SETXc.5895_5903del (p.Gly1966_Gly1968del)
c.621_629del (p.Gly208_Gly210del)
n.5811_5819del
c.348_356del (p.Gly117_Gly119del)
n.5450_5458del
9g.132296934C>ACA375343941SETXc.5902G>T (p.Gly1968Ter)
c.628G>T (p.Gly210Ter)
n.5818G>T
c.355G>T (p.Gly119Ter)
n.5457G>T
9g.132296934C>GCA375343944SETXc.5902G>C (p.Gly1968Arg)
c.628G>C (p.Gly210Arg)
n.5818G>C
c.355G>C (p.Gly119Arg)
n.5457G>C
9g.132296934C>TCA375343945SETXc.5902G>A (p.Gly1968Arg)
c.628G>A (p.Gly210Arg)
n.5818G>A
c.355G>A (p.Gly119Arg)
n.5457G>A
9g.132296935T>ACA467428488SETXc.5901A>T (p.Thr1967=)
c.627A>T (p.Thr209=)
n.5817A>T
c.354A>T (p.Thr118=)
n.5456A>T
9g.132296935T>CCA200818925SETXc.5901A>G (p.Thr1967=)
c.627A>G (p.Thr209=)
n.5817A>G
c.354A>G (p.Thr118=)
n.5456A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132296935T>GCA5296880SETXc.5901A>C (p.Thr1967=)
c.627A>C (p.Thr209=)
n.5817A>C
c.354A>C (p.Thr118=)
n.5456A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.132296935T=CA1882092075SETXc.5901A= (p.Thr1967=)
c.627A= (p.Thr209=)
n.5817A=
c.354A= (p.Thr118=)
n.5456A=
9g.132296936G>ACA375343956SETXc.5900C>T (p.Thr1967Ile)
c.626C>T (p.Thr209Ile)
n.5816C>T
c.353C>T (p.Thr118Ile)
n.5455C>T
9g.132296936G>CCA375343961SETXc.5900C>G (p.Thr1967Arg)
c.626C>G (p.Thr209Arg)
n.5816C>G
c.353C>G (p.Thr118Arg)
n.5455C>G
9g.132296936G>TCA375343963SETXc.5900C>A (p.Thr1967Lys)
c.626C>A (p.Thr209Lys)
n.5816C>A
c.353C>A (p.Thr118Lys)
n.5455C>A
9g.132296937T>ACA375343978SETXc.5899A>T (p.Thr1967Ser)
c.625A>T (p.Thr209Ser)
n.5815A>T
c.352A>T (p.Thr118Ser)
n.5454A>T
9g.132296937T>CCA375343975SETXc.5899A>G (p.Thr1967Ala)
c.625A>G (p.Thr209Ala)
n.5815A>G
c.352A>G (p.Thr118Ala)
n.5454A>G
9g.132296937T>GCA375343969SETXc.5899A>C (p.Thr1967Pro)
c.625A>C (p.Thr209Pro)
n.5815A>C
c.352A>C (p.Thr118Pro)
n.5454A>C
9g.132296938T>ACA467428489SETXc.5898A>T (p.Gly1966=)
c.624A>T (p.Gly208=)
n.5814A>T
c.351A>T (p.Gly117=)
n.5453A>T
9g.132296938T>CCA200818931SETXc.5898A>G (p.Gly1966=)
c.624A>G (p.Gly208=)
n.5814A>G
c.351A>G (p.Gly117=)
n.5453A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132296938T>GCA467428490SETXc.5898A>C (p.Gly1966=)
c.624A>C (p.Gly208=)
n.5814A>C
c.351A>C (p.Gly117=)
n.5453A>C
9g.132296938T=CA1882092077SETXc.5898A= (p.Gly1966=)
c.624A= (p.Gly208=)
n.5814A=
c.351A= (p.Gly117=)
n.5453A=
9g.132296939_132296944delCA2692254067SETXc.5893_5898del (p.Pro1965_Gly1966del)
c.619_624del (p.Pro207_Gly208del)
n.5809_5814del
c.346_351del (p.Pro116_Gly117del)
n.5448_5453del
 gnomAD v4
9g.132296939C>ACA375343993SETXc.5897G>T (p.Gly1966Val)
c.623G>T (p.Gly208Val)
n.5813G>T
c.350G>T (p.Gly117Val)
n.5452G>T
9g.132296939C>GCA375343990SETXc.5897G>C (p.Gly1966Ala)
c.623G>C (p.Gly208Ala)
n.5813G>C
c.350G>C (p.Gly117Ala)
n.5452G>C
9g.132296939C>TCA375343998SETXc.5897G>A (p.Gly1966Glu)
c.623G>A (p.Gly208Glu)
n.5813G>A
c.350G>A (p.Gly117Glu)
n.5452G>A
 COSMIC
9g.132296940C>ACA375344006SETXc.5896G>T (p.Gly1966Ter)
c.622G>T (p.Gly208Ter)
n.5812G>T
c.349G>T (p.Gly117Ter)
n.5451G>T
9g.132296940C=CA1882092079SETXc.5896G= (p.Gly1966=)
c.622G= (p.Gly208=)
n.5812G=
c.349G= (p.Gly117=)
n.5451G=
9g.132296940C>GCA375344009SETXc.5896G>C (p.Gly1966Arg)
c.622G>C (p.Gly208Arg)
n.5812G>C
c.349G>C (p.Gly117Arg)
n.5451G>C
9g.132296940C>TCA375344011SETXc.5896G>A (p.Gly1966Arg)
c.622G>A (p.Gly208Arg)
n.5812G>A
c.349G>A (p.Gly117Arg)
n.5451G>A
 dbSNP gnomAD v2
9g.132296941A=CA1882092084SETXc.5895T= (p.Pro1965=)
c.621T= (p.Pro207=)
n.5811T=
c.348T= (p.Pro116=)
n.5450T=
9g.132296941A>CCA467428493SETXc.5895T>G (p.Pro1965=)
c.621T>G (p.Pro207=)
n.5811T>G
c.348T>G (p.Pro116=)
n.5450T>G
 dbSNP gnomAD v2 gnomAD v4
9g.132296941A>GCA467428491SETXc.5895T>C (p.Pro1965=)
c.621T>C (p.Pro207=)
n.5811T>C
c.348T>C (p.Pro116=)
n.5450T>C
 dbSNP
9g.132296941A>TCA467428492SETXc.5895T>A (p.Pro1965=)
c.621T>A (p.Pro207=)
n.5811T>A
c.348T>A (p.Pro116=)
n.5450T>A
9g.132296942G>ACA375344026SETXc.5894C>T (p.Pro1965Leu)
c.620C>T (p.Pro207Leu)
n.5810C>T
c.347C>T (p.Pro116Leu)
n.5449C>T
9g.132296942G>CCA375344029SETXc.5894C>G (p.Pro1965Arg)
c.620C>G (p.Pro207Arg)
n.5810C>G
c.347C>G (p.Pro116Arg)
n.5449C>G
9g.132296942G>TCA375344037SETXc.5894C>A (p.Pro1965His)
c.620C>A (p.Pro207His)
n.5810C>A
c.347C>A (p.Pro116His)
n.5449C>A
9g.132296943G>ACA375344046SETXc.5893C>T (p.Pro1965Ser)
c.619C>T (p.Pro207Ser)
n.5809C>T
c.346C>T (p.Pro116Ser)
n.5448C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.132296943G>CCA375344041SETXc.5893C>G (p.Pro1965Ala)
c.619C>G (p.Pro207Ala)
n.5809C>G
c.346C>G (p.Pro116Ala)
n.5448C>G
9g.132296943G=CA1882092086SETXc.5893C= (p.Pro1965=)
c.619C= (p.Pro207=)
n.5809C=
c.346C= (p.Pro116=)
n.5448C=
9g.132296943G>TCA375344040SETXc.5893C>A (p.Pro1965Thr)
c.619C>A (p.Pro207Thr)
n.5809C>A
c.346C>A (p.Pro116Thr)
n.5448C>A
9g.132296944T>ACA467428494SETXc.5892A>T (p.Pro1964=)
c.618A>T (p.Pro206=)
n.5808A>T
c.345A>T (p.Pro115=)
n.5447A>T
9g.132296944T>CCA467428495SETXc.5892A>G (p.Pro1964=)
c.618A>G (p.Pro206=)
n.5808A>G
c.345A>G (p.Pro115=)
n.5447A>G
 dbSNP gnomAD v4
9g.132296944T>GCA467428496SETXc.5892A>C (p.Pro1964=)
c.618A>C (p.Pro206=)
n.5808A>C
c.345A>C (p.Pro115=)
n.5447A>C
9g.132296944T=CA1882092088SETXc.5892A= (p.Pro1964=)
c.618A= (p.Pro206=)
n.5808A=
c.345A= (p.Pro115=)
n.5447A=
9g.132296945G>ACA375344049SETXc.5891C>T (p.Pro1964Leu)
c.617C>T (p.Pro206Leu)
n.5807C>T
c.344C>T (p.Pro115Leu)
n.5446C>T
 gnomAD v4
9g.132296945G>CCA375344052SETXc.5891C>G (p.Pro1964Arg)
c.617C>G (p.Pro206Arg)
n.5807C>G
c.344C>G (p.Pro115Arg)
n.5446C>G
9g.132296945G>TCA375344054SETXc.5891C>A (p.Pro1964Gln)
c.617C>A (p.Pro206Gln)
n.5807C>A
c.344C>A (p.Pro115Gln)
n.5446C>A
9g.132296946G>ACA375344057SETXc.5890C>T (p.Pro1964Ser)
c.616C>T (p.Pro206Ser)
n.5806C>T
c.343C>T (p.Pro115Ser)
n.5445C>T
 ClinVar dbSNP
9g.132296946G>CCA375344063SETXc.5890C>G (p.Pro1964Ala)
c.616C>G (p.Pro206Ala)
n.5806C>G
c.343C>G (p.Pro115Ala)
n.5445C>G
 dbSNP
9g.132296946G=CA1882092092SETXc.5890C= (p.Pro1964=)
c.616C= (p.Pro206=)
n.5806C=
c.343C= (p.Pro115=)
n.5445C=
9g.132296946G>TCA375344066SETXc.5890C>A (p.Pro1964Thr)
c.616C>A (p.Pro206Thr)
n.5806C>A
c.343C>A (p.Pro115Thr)
n.5445C>A
9g.132296947T>ACA467428497SETXc.5889A>T (p.Gly1963=)
c.615A>T (p.Gly205=)
n.5805A>T
c.342A>T (p.Gly114=)
n.5444A>T
9g.132296947T>CCA467428498SETXc.5889A>G (p.Gly1963=)
c.615A>G (p.Gly205=)
n.5805A>G
c.342A>G (p.Gly114=)
n.5444A>G
 gnomAD v4
9g.132296947T>GCA467428499SETXc.5889A>C (p.Gly1963=)
c.615A>C (p.Gly205=)
n.5805A>C
c.342A>C (p.Gly114=)
n.5444A>C
9g.132296948C>ACA375344069SETXc.5888G>T (p.Gly1963Val)
c.614G>T (p.Gly205Val)
n.5804G>T
c.341G>T (p.Gly114Val)
n.5443G>T
9g.132296948C=CA1882092096SETXc.5888G= (p.Gly1963=)
c.614G= (p.Gly205=)
n.5804G=
c.341G= (p.Gly114=)
n.5443G=
9g.132296948C>GCA375344071SETXc.5888G>C (p.Gly1963Ala)
c.614G>C (p.Gly205Ala)
n.5804G>C
c.341G>C (p.Gly114Ala)
n.5443G>C
9g.132296948C>TCA375344070SETXc.5888G>A (p.Gly1963Glu)
c.614G>A (p.Gly205Glu)
n.5804G>A
c.341G>A (p.Gly114Glu)
n.5443G>A
9g.132296948_132296949insGCCGTATCA590947219SETXc.5887_5888insATACGGC (p.Gly1963AspfsTer?)
c.613_614insATACGGC (p.Gly205AspfsTer?)
n.5803_5804insATACGGC
c.340_341insATACGGC (p.Gly114AspfsTer?)
n.5442_5443insATACGGC
 dbSNP gnomAD v2
9g.132296949C>ACA375344072SETXc.5887G>T (p.Gly1963Ter)
c.613G>T (p.Gly205Ter)
n.5803G>T
c.340G>T (p.Gly114Ter)
n.5442G>T
9g.132296949C>GCA375344074SETXc.5887G>C (p.Gly1963Arg)
c.613G>C (p.Gly205Arg)
n.5803G>C
c.340G>C (p.Gly114Arg)
n.5442G>C
9g.132296949C>TCA375344076SETXc.5887G>A (p.Gly1963Arg)
c.613G>A (p.Gly205Arg)
n.5803G>A
c.340G>A (p.Gly114Arg)
n.5442G>A
9g.132296950A>CCA375344078SETXc.5886T>G (p.His1962Gln)
c.612T>G (p.His204Gln)
n.5802T>G
c.339T>G (p.His113Gln)
n.5441T>G
9g.132296950A>GCA467428500SETXc.5886T>C (p.His1962=)
c.612T>C (p.His204=)
n.5802T>C
c.339T>C (p.His113=)
n.5441T>C
9g.132296950A>TCA375344085SETXc.5886T>A (p.His1962Gln)
c.612T>A (p.His204Gln)
n.5802T>A
c.339T>A (p.His113Gln)
n.5441T>A
9g.132296951T>ACA375344094SETXc.5885A>T (p.His1962Leu)
c.611A>T (p.His204Leu)
n.5801A>T
c.338A>T (p.His113Leu)
n.5440A>T
9g.132296951T>CCA375344100SETXc.5885A>G (p.His1962Arg)
c.611A>G (p.His204Arg)
n.5801A>G
c.338A>G (p.His113Arg)
n.5440A>G
9g.132296951T>GCA375344102SETXc.5885A>C (p.His1962Pro)
c.611A>C (p.His204Pro)
n.5801A>C
c.338A>C (p.His113Pro)
n.5440A>C
9g.132296952G>ACA375344107SETXc.5884C>T (p.His1962Tyr)
c.610C>T (p.His204Tyr)
n.5800C>T
c.337C>T (p.His113Tyr)
n.5439C>T
9g.132296952G>CCA375344110SETXc.5884C>G (p.His1962Asp)
c.610C>G (p.His204Asp)
n.5800C>G
c.337C>G (p.His113Asp)
n.5439C>G
9g.132296952G=CA1882092099SETXc.5884C= (p.His1962=)
c.610C= (p.His204=)
n.5800C=
c.337C= (p.His113=)
n.5439C=
9g.132296952G>TCA375344114SETXc.5884C>A (p.His1962Asn)
c.610C>A (p.His204Asn)
n.5800C>A
c.337C>A (p.His113Asn)
n.5439C>A
 dbSNP gnomAD v2 COSMIC COSMIC
9g.132296953A=CA1882092102SETXc.5883T= (p.Ile1961=)
c.609T= (p.Ile203=)
n.5799T=
c.336T= (p.Ile112=)
n.5438T=
9g.132296953A>CCA375344124SETXc.5883T>G (p.Ile1961Met)
c.609T>G (p.Ile203Met)
n.5799T>G
c.336T>G (p.Ile112Met)
n.5438T>G
9g.132296953A>GCA467428501SETXc.5883T>C (p.Ile1961=)
c.609T>C (p.Ile203=)
n.5799T>C
c.336T>C (p.Ile112=)
n.5438T>C
 dbSNP
9g.132296953A>TCA467428502SETXc.5883T>A (p.Ile1961=)
c.609T>A (p.Ile203=)
n.5799T>A
c.336T>A (p.Ile112=)
n.5438T>A
9g.132296954A=CA1882092103SETXc.5882T= (p.Ile1961=)
c.608T= (p.Ile203=)
n.5798T=
c.335T= (p.Ile112=)
n.5437T=
9g.132296954A>CCA375344127SETXc.5882T>G (p.Ile1961Ser)
c.608T>G (p.Ile203Ser)
n.5798T>G
c.335T>G (p.Ile112Ser)
n.5437T>G
9g.132296954A>GCA375344135SETXc.5882T>C (p.Ile1961Thr)
c.608T>C (p.Ile203Thr)
n.5798T>C
c.335T>C (p.Ile112Thr)
n.5437T>C
 dbSNP gnomAD v2 gnomAD v4
9g.132296954A>TCA375344130SETXc.5882T>A (p.Ile1961Asn)
c.608T>A (p.Ile203Asn)
n.5798T>A
c.335T>A (p.Ile112Asn)
n.5437T>A
9g.132296955T>ACA375344140SETXc.5881A>T (p.Ile1961Phe)
c.607A>T (p.Ile203Phe)
n.5797A>T
c.334A>T (p.Ile112Phe)
n.5436A>T
9g.132296955T>CCA375344141SETXc.5881A>G (p.Ile1961Val)
c.607A>G (p.Ile203Val)
n.5797A>G
c.334A>G (p.Ile112Val)
n.5436A>G
9g.132296955T>GCA375344142SETXc.5881A>C (p.Ile1961Leu)
c.607A>C (p.Ile203Leu)
n.5797A>C
c.334A>C (p.Ile112Leu)
n.5436A>C
9g.132296956C>ACA375344143SETXc.5880G>T (p.Leu1960Phe)
c.606G>T (p.Leu202Phe)
n.5796G>T
c.333G>T (p.Leu111Phe)
n.5435G>T
9g.132296956C>GCA375344144SETXc.5880G>C (p.Leu1960Phe)
c.606G>C (p.Leu202Phe)
n.5796G>C
c.333G>C (p.Leu111Phe)
n.5435G>C
9g.132296956C>TCA467428503SETXc.5880G>A (p.Leu1960=)
c.606G>A (p.Leu202=)
n.5796G>A
c.333G>A (p.Leu111=)
n.5435G>A
9g.132296957A>CCA375344145SETXc.5879T>G (p.Leu1960Trp)
c.605T>G (p.Leu202Trp)
n.5795T>G
c.332T>G (p.Leu111Trp)
n.5434T>G
9g.132296957A>GCA375344148SETXc.5879T>C (p.Leu1960Ser)
c.605T>C (p.Leu202Ser)
n.5795T>C
c.332T>C (p.Leu111Ser)
n.5434T>C
9g.132296957A>TCA375344152SETXc.5879T>A (p.Leu1960Ter)
c.605T>A (p.Leu202Ter)
n.5795T>A
c.332T>A (p.Leu111Ter)
n.5434T>A
9g.132296958dupCA2692254068SETXc.5879dup (p.Leu1960PhefsTer?)
c.605dup (p.Leu202PhefsTer?)
n.5795dup
c.332dup (p.Leu111PhefsTer?)
n.5434dup
 gnomAD v4
9g.132296958A=CA1882092107SETXc.5878T= (p.Leu1960=)
c.604T= (p.Leu202=)
n.5794T=
c.331T= (p.Leu111=)
n.5433T=
9g.132296958A>CCA375344154SETXc.5878T>G (p.Leu1960Val)
c.604T>G (p.Leu202Val)
n.5794T>G
c.331T>G (p.Leu111Val)
n.5433T>G
9g.132296958A>GCA5296881SETXc.5878T>C (p.Leu1960=)
c.604T>C (p.Leu202=)
n.5794T>C
c.331T>C (p.Leu111=)
n.5433T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.132296958A>TCA375344162SETXc.5878T>A (p.Leu1960Met)
c.604T>A (p.Leu202Met)
n.5794T>A
c.331T>A (p.Leu111Met)
n.5433T>A
9g.132296959G>ACA5296882SETXc.5877C>T (p.Cys1959=)
c.603C>T (p.Cys201=)
n.5793C>T
c.330C>T (p.Cys110=)
n.5432C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.132296959G>CCA375344184SETXc.5877C>G (p.Cys1959Trp)
c.603C>G (p.Cys201Trp)
n.5793C>G
c.330C>G (p.Cys110Trp)
n.5432C>G
9g.132296959G=CA1882092110SETXc.5877C= (p.Cys1959=)
c.603C= (p.Cys201=)
n.5793C=
c.330C= (p.Cys110=)
n.5432C=
9g.132296959G>TCA375344168SETXc.5877C>A (p.Cys1959Ter)
c.603C>A (p.Cys201Ter)
n.5793C>A
c.330C>A (p.Cys110Ter)
n.5432C>A
9g.132296960C>ACA375344206SETXc.5876G>T (p.Cys1959Phe)
c.602G>T (p.Cys201Phe)
n.5792G>T
c.329G>T (p.Cys110Phe)
n.5431G>T
9g.132296960C>GCA375344208SETXc.5876G>C (p.Cys1959Ser)
c.602G>C (p.Cys201Ser)
n.5792G>C
c.329G>C (p.Cys110Ser)
n.5431G>C
9g.132296960C>TCA375344210SETXc.5876G>A (p.Cys1959Tyr)
c.602G>A (p.Cys201Tyr)
n.5792G>A
c.329G>A (p.Cys110Tyr)
n.5431G>A
9g.132296961A>CCA375344214SETXc.5875T>G (p.Cys1959Gly)
c.601T>G (p.Cys201Gly)
n.5791T>G
c.328T>G (p.Cys110Gly)
n.5430T>G
9g.132296961A>GCA375344217SETXc.5875T>C (p.Cys1959Arg)
c.601T>C (p.Cys201Arg)
n.5791T>C
c.328T>C (p.Cys110Arg)
n.5430T>C
9g.132296961A>TCA375344220SETXc.5875T>A (p.Cys1959Ser)
c.601T>A (p.Cys201Ser)
n.5791T>A
c.328T>A (p.Cys110Ser)
n.5430T>A
9g.132296962G>ACA467428505SETXc.5874C>T (p.Ile1958=)
c.600C>T (p.Ile200=)
n.5790C>T
c.327C>T (p.Ile109=)
n.5429C>T
9g.132296962G>CCA375344225SETXc.5874C>G (p.Ile1958Met)
c.600C>G (p.Ile200Met)
n.5790C>G
c.327C>G (p.Ile109Met)
n.5429C>G
9g.132296962G>TCA467428504SETXc.5874C>A (p.Ile1958=)
c.600C>A (p.Ile200=)
n.5790C>A
c.327C>A (p.Ile109=)
n.5429C>A
9g.132296963A>CCA375344229SETXc.5873T>G (p.Ile1958Ser)
c.599T>G (p.Ile200Ser)
n.5789T>G
c.326T>G (p.Ile109Ser)
n.5428T>G
9g.132296963A>GCA375344234SETXc.5873T>C (p.Ile1958Thr)
c.599T>C (p.Ile200Thr)
n.5789T>C
c.326T>C (p.Ile109Thr)
n.5428T>C
9g.132296963A>TCA375344235SETXc.5873T>A (p.Ile1958Asn)
c.599T>A (p.Ile200Asn)
n.5789T>A
c.326T>A (p.Ile109Asn)
n.5428T>A
9g.132296964T>ACA375344239SETXc.5872A>T (p.Ile1958Phe)
c.598A>T (p.Ile200Phe)
n.5788A>T
c.325A>T (p.Ile109Phe)
n.5427A>T
9g.132296964T>CCA5296883SETXc.5872A>G (p.Ile1958Val)
c.598A>G (p.Ile200Val)
n.5788A>G
c.325A>G (p.Ile109Val)
n.5427A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.132296964T>GCA375344261SETXc.5872A>C (p.Ile1958Leu)
c.598A>C (p.Ile200Leu)
n.5788A>C
c.325A>C (p.Ile109Leu)
n.5427A>C
9g.132296964T=CA1882092112SETXc.5872A= (p.Ile1958=)
c.598A= (p.Ile200=)
n.5788A=
c.325A= (p.Ile109=)
n.5427A=
9g.132296967delCA2720680770SETXc.5872del (p.Ile1958SerfsTer3)
c.598del (p.Ile200SerfsTer3)
n.5788del
c.325del (p.Ile109SerfsTer3)
n.5427del
 dbSNP
9g.132296965T>ACA375344266SETXc.5871A>T (p.Lys1957Asn)
c.597A>T (p.Lys199Asn)
n.5787A>T
c.324A>T (p.Lys108Asn)
n.5426A>T
 COSMIC COSMIC
9g.132296965T>CCA467428506SETXc.5871A>G (p.Lys1957=)
c.597A>G (p.Lys199=)
n.5787A>G
c.324A>G (p.Lys108=)
n.5426A>G
9g.132296965T>GCA375344268SETXc.5871A>C (p.Lys1957Asn)
c.597A>C (p.Lys199Asn)
n.5787A>C
c.324A>C (p.Lys108Asn)
n.5426A>C
9g.132296966T>ACA375344272SETXc.5870A>T (p.Lys1957Ile)
c.596A>T (p.Lys199Ile)
n.5786A>T
c.323A>T (p.Lys108Ile)
n.5425A>T
9g.132296966T>CCA375344276SETXc.5870A>G (p.Lys1957Arg)
c.596A>G (p.Lys199Arg)
n.5786A>G
c.323A>G (p.Lys108Arg)
n.5425A>G
9g.132296966T>GCA375344282SETXc.5870A>C (p.Lys1957Thr)
c.596A>C (p.Lys199Thr)
n.5786A>C
c.323A>C (p.Lys108Thr)
n.5425A>C
9g.132296967T>ACA375344283SETXc.5869A>T (p.Lys1957Ter)
c.595A>T (p.Lys199Ter)
n.5785A>T
c.322A>T (p.Lys108Ter)
n.5424A>T
9g.132296967T>CCA375344286SETXc.5869A>G (p.Lys1957Glu)
c.595A>G (p.Lys199Glu)
n.5785A>G
c.322A>G (p.Lys108Glu)
n.5424A>G
9g.132296967T>GCA375344289SETXc.5869A>C (p.Lys1957Gln)
c.595A>C (p.Lys199Gln)
n.5785A>C
c.322A>C (p.Lys108Gln)
n.5424A>C
9g.132296968G>ACA467428507SETXc.5868C>T (p.Ala1956=)
c.594C>T (p.Ala198=)
n.5784C>T
c.321C>T (p.Ala107=)
n.5423C>T
9g.132296968G>CCA467428509SETXc.5868C>G (p.Ala1956=)
c.594C>G (p.Ala198=)
n.5784C>G
c.321C>G (p.Ala107=)
n.5423C>G
9g.132296968G>TCA467428508SETXc.5868C>A (p.Ala1956=)
c.594C>A (p.Ala198=)
n.5784C>A
c.321C>A (p.Ala107=)
n.5423C>A
9g.132296969G>ACA375344296SETXc.5867C>T (p.Ala1956Val)
c.593C>T (p.Ala198Val)
n.5783C>T
c.320C>T (p.Ala107Val)
n.5422C>T
9g.132296969G>CCA375344294SETXc.5867C>G (p.Ala1956Gly)
c.593C>G (p.Ala198Gly)
n.5783C>G
c.320C>G (p.Ala107Gly)
n.5422C>G
9g.132296969G>TCA375344291SETXc.5867C>A (p.Ala1956Asp)
c.593C>A (p.Ala198Asp)
n.5783C>A
c.320C>A (p.Ala107Asp)
n.5422C>A
9g.132296970C>ACA375344303SETXc.5866G>T (p.Ala1956Ser)
c.592G>T (p.Ala198Ser)
n.5782G>T
c.319G>T (p.Ala107Ser)
n.5421G>T
 gnomAD v4
9g.132296970C>GCA375344309SETXc.5866G>C (p.Ala1956Pro)
c.592G>C (p.Ala198Pro)
n.5782G>C
c.319G>C (p.Ala107Pro)
n.5421G>C
9g.132296970C>TCA375344312SETXc.5866G>A (p.Ala1956Thr)
c.592G>A (p.Ala198Thr)
n.5782G>A
c.319G>A (p.Ala107Thr)
n.5421G>A
9g.132296971A>CCA467428510SETXc.5865T>G (p.Val1955=)
c.591T>G (p.Val197=)
n.5781T>G
c.318T>G (p.Val106=)
n.5420T>G
9g.132296971A>GCA467428511SETXc.5865T>C (p.Val1955=)
c.591T>C (p.Val197=)
n.5781T>C
c.318T>C (p.Val106=)
n.5420T>C
9g.132296971A>TCA467428512SETXc.5865T>A (p.Val1955=)
c.591T>A (p.Val197=)
n.5781T>A
c.318T>A (p.Val106=)
n.5420T>A
9g.132296972A>CCA375344316SETXc.5864T>G (p.Val1955Gly)
c.590T>G (p.Val197Gly)
n.5780T>G
c.317T>G (p.Val106Gly)
n.5419T>G
9g.132296972A>GCA375344319SETXc.5864T>C (p.Val1955Ala)
c.590T>C (p.Val197Ala)
n.5780T>C
c.317T>C (p.Val106Ala)
n.5419T>C
9g.132296972A>TCA375344321SETXc.5864T>A (p.Val1955Asp)
c.590T>A (p.Val197Asp)
n.5780T>A
c.317T>A (p.Val106Asp)
n.5419T>A
9g.132296973C>ACA375344323SETXc.5863G>T (p.Val1955Phe)
c.589G>T (p.Val197Phe)
n.5779G>T
c.316G>T (p.Val106Phe)
n.5418G>T
9g.132296973C>GCA375344326SETXc.5863G>C (p.Val1955Leu)
c.589G>C (p.Val197Leu)
n.5779G>C
c.316G>C (p.Val106Leu)
n.5418G>C
9g.132296973C>TCA375344325SETXc.5863G>A (p.Val1955Ile)
c.589G>A (p.Val197Ile)
n.5779G>A
c.316G>A (p.Val106Ile)
n.5418G>A
9g.132296974T>ACA467428513SETXc.5862A>T (p.Ser1954=)
c.588A>T (p.Ser196=)
n.5778A>T
c.315A>T (p.Ser105=)
n.5417A>T
9g.132296974T>CCA467428515SETXc.5862A>G (p.Ser1954=)
c.588A>G (p.Ser196=)
n.5778A>G
c.315A>G (p.Ser105=)
n.5417A>G
 gnomAD v4
9g.132296974T>GCA467428514SETXc.5862A>C (p.Ser1954=)
c.588A>C (p.Ser196=)
n.5778A>C
c.315A>C (p.Ser105=)
n.5417A>C
9g.132296975G>ACA375344329SETXc.5861C>T (p.Ser1954Leu)
c.587C>T (p.Ser196Leu)
n.5777C>T
c.314C>T (p.Ser105Leu)
n.5416C>T
9g.132296975G>CCA375344331SETXc.5861C>G (p.Ser1954Ter)
c.587C>G (p.Ser196Ter)
n.5777C>G
c.314C>G (p.Ser105Ter)
n.5416C>G
9g.132296975G>TCA375344333SETXc.5861C>A (p.Ser1954Ter)
c.587C>A (p.Ser196Ter)
n.5777C>A
c.314C>A (p.Ser105Ter)
n.5416C>A
9g.132296976A>CCA375344337SETXc.5860T>G (p.Ser1954Ala)
c.586T>G (p.Ser196Ala)
n.5776T>G
c.313T>G (p.Ser105Ala)
n.5415T>G
9g.132296976A>GCA375344339SETXc.5860T>C (p.Ser1954Pro)
c.586T>C (p.Ser196Pro)
n.5776T>C
c.313T>C (p.Ser105Pro)
n.5415T>C
9g.132296976A>TCA375344343SETXc.5860T>A (p.Ser1954Thr)
c.586T>A (p.Ser196Thr)
n.5776T>A
c.313T>A (p.Ser105Thr)
n.5415T>A
9g.132296977T>ACA467428516SETXc.5859A>T (p.Pro1953=)
c.585A>T (p.Pro195=)
n.5775A>T
c.312A>T (p.Pro104=)
n.5414A>T
9g.132296977T>CCA467428517SETXc.5859A>G (p.Pro1953=)
c.585A>G (p.Pro195=)
n.5775A>G
c.312A>G (p.Pro104=)
n.5414A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132296977T>GCA467428518SETXc.5859A>C (p.Pro1953=)
c.585A>C (p.Pro195=)
n.5775A>C
c.312A>C (p.Pro104=)
n.5414A>C
9g.132296977T=CA1882092119SETXc.5859A= (p.Pro1953=)
c.585A= (p.Pro195=)
n.5775A=
c.312A= (p.Pro104=)
n.5414A=
9g.132296978G>ACA5296884SETXc.5858C>T (p.Pro1953Leu)
c.584C>T (p.Pro195Leu)
n.5774C>T
c.311C>T (p.Pro104Leu)
n.5413C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132296978G>CCA375344345SETXc.5858C>G (p.Pro1953Arg)
c.584C>G (p.Pro195Arg)
n.5774C>G
c.311C>G (p.Pro104Arg)
n.5413C>G
9g.132296978G=CA1882092123SETXc.5858C= (p.Pro1953=)
c.584C= (p.Pro195=)
n.5774C=
c.311C= (p.Pro104=)
n.5413C=
9g.132296978G>TCA375344346SETXc.5858C>A (p.Pro1953Gln)
c.584C>A (p.Pro195Gln)
n.5774C>A
c.311C>A (p.Pro104Gln)
n.5413C>A
9g.132296979G>ACA375344347SETXc.5857C>T (p.Pro1953Ser)
c.583C>T (p.Pro195Ser)
n.5773C>T
c.310C>T (p.Pro104Ser)
n.5412C>T
 dbSNP
9g.132296979G>CCA375344348SETXc.5857C>G (p.Pro1953Ala)
c.583C>G (p.Pro195Ala)
n.5773C>G
c.310C>G (p.Pro104Ala)
n.5412C>G
 gnomAD v4
9g.132296979G=CA1882092124SETXc.5857C= (p.Pro1953=)
c.583C= (p.Pro195=)
n.5773C=
c.310C= (p.Pro104=)
n.5412C=
9g.132296979G>TCA375344352SETXc.5857C>A (p.Pro1953Thr)
c.583C>A (p.Pro195Thr)
n.5773C>A
c.310C>A (p.Pro104Thr)
n.5412C>A
9g.132296982_132296985delCA2579601300SETXc.5854_5857del (p.Ser1952HisfsTer8)
c.580_583del (p.Ser194HisfsTer8)
n.5770_5773del
c.307_310del (p.Ser103HisfsTer8)
n.5409_5412del
 gnomAD v4
9g.132296980T>ACA467428519SETXc.5856A>T (p.Ser1952=)
c.582A>T (p.Ser194=)
n.5772A>T
c.309A>T (p.Ser103=)
n.5411A>T
9g.132296980T>CCA467428520SETXc.5856A>G (p.Ser1952=)
c.582A>G (p.Ser194=)
n.5772A>G
c.309A>G (p.Ser103=)
n.5411A>G
9g.132296980T>GCA467428521SETXc.5856A>C (p.Ser1952=)
c.582A>C (p.Ser194=)
n.5772A>C
c.309A>C (p.Ser103=)
n.5411A>C
9g.132296981delCA2579601301SETXc.5855del (p.Ser1952TyrfsTer9)
c.581del (p.Ser194TyrfsTer9)
n.5771del
c.308del (p.Ser103TyrfsTer9)
n.5410del
9g.132296981G>ACA375344355SETXc.5855C>T (p.Ser1952Leu)
c.581C>T (p.Ser194Leu)
n.5771C>T
c.308C>T (p.Ser103Leu)
n.5410C>T
9g.132296981G>CCA375344360SETXc.5855C>G (p.Ser1952Ter)
c.581C>G (p.Ser194Ter)
n.5771C>G
c.308C>G (p.Ser103Ter)
n.5410C>G
9g.132296981G>TCA375344357SETXc.5855C>A (p.Ser1952Ter)
c.581C>A (p.Ser194Ter)
n.5771C>A
c.308C>A (p.Ser103Ter)
n.5410C>A
9g.132296982A=CA1882092127SETXc.5854T= (p.Ser1952=)
c.580T= (p.Ser194=)
n.5770T=
c.307T= (p.Ser103=)
n.5409T=
9g.132296982A>CCA375344362SETXc.5854T>G (p.Ser1952Ala)
c.580T>G (p.Ser194Ala)
n.5770T>G
c.307T>G (p.Ser103Ala)
n.5409T>G
9g.132296982A>GCA5296885SETXc.5854T>C (p.Ser1952Pro)
c.580T>C (p.Ser194Pro)
n.5770T>C
c.307T>C (p.Ser103Pro)
n.5409T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132296982A>TCA375344364SETXc.5854T>A (p.Ser1952Thr)
c.580T>A (p.Ser194Thr)
n.5770T>A
c.307T>A (p.Ser103Thr)
n.5409T>A
9g.132296983G>ACA467428522SETXc.5853C>T (p.His1951=)
c.579C>T (p.His193=)
n.5769C>T
c.306C>T (p.His102=)
n.5408C>T
 gnomAD v4
9g.132296983G>CCA200818944SETXc.5853C>G (p.His1951Gln)
c.579C>G (p.His193Gln)
n.5769C>G
c.306C>G (p.His102Gln)
n.5408C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.132296983G=CA1882092134SETXc.5853C= (p.His1951=)
c.579C= (p.His193=)
n.5769C=
c.306C= (p.His102=)
n.5408C=
9g.132296983G>TCA375344366SETXc.5853C>A (p.His1951Gln)
c.579C>A (p.His193Gln)
n.5769C>A
c.306C>A (p.His102Gln)
n.5408C>A
9g.132296983_132296987delCA2692254069SETXc.5849_5853del (p.Lys1950IlefsTer?)
c.575_579del (p.Lys192IlefsTer?)
n.5765_5769del
c.302_306del (p.Lys101IlefsTer?)
n.5404_5408del
 gnomAD v4
9g.132296984T>ACA375344369SETXc.5852A>T (p.His1951Leu)
c.578A>T (p.His193Leu)
n.5768A>T
c.305A>T (p.His102Leu)
n.5407A>T
 ClinVar
9g.132296984T>CCA5296886SETXc.5852A>G (p.His1951Arg)
c.578A>G (p.His193Arg)
n.5768A>G
c.305A>G (p.His102Arg)
n.5407A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132296984T>GCA375344372SETXc.5852A>C (p.His1951Pro)
c.578A>C (p.His193Pro)
n.5768A>C
c.305A>C (p.His102Pro)
n.5407A>C
9g.132296984T=CA1882092140SETXc.5852A= (p.His1951=)
c.578A= (p.His193=)
n.5768A=
c.305A= (p.His102=)
n.5407A=
9g.132296985G>ACA375344381SETXc.5851C>T (p.His1951Tyr)
c.577C>T (p.His193Tyr)
n.5767C>T
c.304C>T (p.His102Tyr)
n.5406C>T
9g.132296985G>CCA375344382SETXc.5851C>G (p.His1951Asp)
c.577C>G (p.His193Asp)
n.5767C>G
c.304C>G (p.His102Asp)
n.5406C>G
 dbSNP
9g.132296985G=CA1882092141SETXc.5851C= (p.His1951=)
c.577C= (p.His193=)
n.5767C=
c.304C= (p.His102=)
n.5406C=
9g.132296985G>TCA375344384SETXc.5851C>A (p.His1951Asn)
c.577C>A (p.His193Asn)
n.5767C>A
c.304C>A (p.His102Asn)
n.5406C>A
9g.132296986T>ACA375344388SETXc.5850A>T (p.Lys1950Asn)
c.576A>T (p.Lys192Asn)
n.5766A>T
c.303A>T (p.Lys101Asn)
n.5405A>T
9g.132296986T>CCA467428523SETXc.5850A>G (p.Lys1950=)
c.576A>G (p.Lys192=)
n.5766A>G
c.303A>G (p.Lys101=)
n.5405A>G
9g.132296986T>GCA375344394SETXc.5850A>C (p.Lys1950Asn)
c.576A>C (p.Lys192Asn)
n.5766A>C
c.303A>C (p.Lys101Asn)
n.5405A>C
9g.132296987T>ACA375344401SETXc.5849A>T (p.Lys1950Ile)
c.575A>T (p.Lys192Ile)
n.5765A>T
c.302A>T (p.Lys101Ile)
n.5404A>T
9g.132296987T>CCA375344397SETXc.5849A>G (p.Lys1950Arg)
c.575A>G (p.Lys192Arg)
n.5765A>G
c.302A>G (p.Lys101Arg)
n.5404A>G
9g.132296987T>GCA375344400SETXc.5849A>C (p.Lys1950Thr)
c.575A>C (p.Lys192Thr)
n.5765A>C
c.302A>C (p.Lys101Thr)
n.5404A>C
9g.132296988T>ACA375344405SETXc.5848A>T (p.Lys1950Ter)
c.574A>T (p.Lys192Ter)
n.5764A>T
c.301A>T (p.Lys101Ter)
n.5403A>T
9g.132296988T>CCA375344409SETXc.5848A>G (p.Lys1950Glu)
c.574A>G (p.Lys192Glu)
n.5764A>G
c.301A>G (p.Lys101Glu)
n.5403A>G
9g.132296988T>GCA375344424SETXc.5848A>C (p.Lys1950Gln)
c.574A>C (p.Lys192Gln)
n.5764A>C
c.301A>C (p.Lys101Gln)
n.5403A>C
9g.132296989C>ACA467428524SETXc.5847G>T (p.Val1949=)
c.573G>T (p.Val191=)
n.5763G>T
c.300G>T (p.Val100=)
n.5402G>T
9g.132296989C>GCA467428525SETXc.5847G>C (p.Val1949=)
c.573G>C (p.Val191=)
n.5763G>C
c.300G>C (p.Val100=)
n.5402G>C
9g.132296989C>TCA467428526SETXc.5847G>A (p.Val1949=)
c.573G>A (p.Val191=)
n.5763G>A
c.300G>A (p.Val100=)
n.5402G>A
9g.132296990A=CA1882092142SETXc.5846T= (p.Val1949=)
c.572T= (p.Val191=)
n.5762T=
c.299T= (p.Val100=)
n.5401T=
9g.132296990A>CCA375344429SETXc.5846T>G (p.Val1949Gly)
c.572T>G (p.Val191Gly)
n.5762T>G
c.299T>G (p.Val100Gly)
n.5401T>G
 dbSNP
9g.132296990A>GCA375344431SETXc.5846T>C (p.Val1949Ala)
c.572T>C (p.Val191Ala)
n.5762T>C
c.299T>C (p.Val100Ala)
n.5401T>C
9g.132296990A>TCA375344436SETXc.5846T>A (p.Val1949Glu)
c.572T>A (p.Val191Glu)
n.5762T>A
c.299T>A (p.Val100Glu)
n.5401T>A
9g.132296991C>ACA375344440SETXc.5845G>T (p.Val1949Leu)
c.571G>T (p.Val191Leu)
n.5761G>T
c.298G>T (p.Val100Leu)
n.5400G>T
9g.132296991C>GCA375344446SETXc.5845G>C (p.Val1949Leu)
c.571G>C (p.Val191Leu)
n.5761G>C
c.298G>C (p.Val100Leu)
n.5400G>C
9g.132296991C>TCA375344454SETXc.5845G>A (p.Val1949Met)
c.571G>A (p.Val191Met)
n.5761G>A
c.298G>A (p.Val100Met)
n.5400G>A
 gnomAD v4
9g.132296992C>ACA375344458SETXc.5844G>T (p.Met1948Ile)
c.570G>T (p.Met190Ile)
n.5760G>T
c.297G>T (p.Met99Ile)
n.5399G>T
9g.132296992C>GCA375344460SETXc.5844G>C (p.Met1948Ile)
c.570G>C (p.Met190Ile)
n.5760G>C
c.297G>C (p.Met99Ile)
n.5399G>C
9g.132296992C>TCA375344462SETXc.5844G>A (p.Met1948Ile)
c.570G>A (p.Met190Ile)
n.5760G>A
c.297G>A (p.Met99Ile)
n.5399G>A
9g.132296993A>CCA375344472SETXc.5843T>G (p.Met1948Arg)
c.569T>G (p.Met190Arg)
n.5759T>G
c.296T>G (p.Met99Arg)
n.5398T>G
9g.132296993A>GCA375344476SETXc.5843T>C (p.Met1948Thr)
c.569T>C (p.Met190Thr)
n.5759T>C
c.296T>C (p.Met99Thr)
n.5398T>C
9g.132296993A>TCA375344466SETXc.5843T>A (p.Met1948Lys)
c.569T>A (p.Met190Lys)
n.5759T>A
c.296T>A (p.Met99Lys)
n.5398T>A
9g.132296994T>ACA375344483SETXc.5842A>T (p.Met1948Leu)
c.568A>T (p.Met190Leu)
n.5758A>T
c.295A>T (p.Met99Leu)
n.5397A>T
 dbSNP gnomAD v2 gnomAD v4
9g.132296994T>CCA5296887SETXc.5842A>G (p.Met1948Val)
c.568A>G (p.Met190Val)
n.5758A>G
c.295A>G (p.Met99Val)
n.5397A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132296994T>GCA375344487SETXc.5842A>C (p.Met1948Leu)
c.568A>C (p.Met190Leu)
n.5758A>C
c.295A>C (p.Met99Leu)
n.5397A>C
9g.132296994T=CA1882092146SETXc.5842A= (p.Met1948=)
c.568A= (p.Met190=)
n.5758A=
c.295A= (p.Met99=)
n.5397A=
9g.132296994_132296995insCCA2692254070SETXc.5841_5842insG (p.Met1948AspfsTer?)
c.567_568insG (p.Met190AspfsTer?)
n.5757_5758insG
c.294_295insG (p.Met99AspfsTer?)
n.5396_5397insG
 gnomAD v4
9g.132296995A>CCA467428527SETXc.5841T>G (p.Ala1947=)
c.567T>G (p.Ala189=)
n.5757T>G
c.294T>G (p.Ala98=)
n.5396T>G
9g.132296995A>GCA467428528SETXc.5841T>C (p.Ala1947=)
c.567T>C (p.Ala189=)
n.5757T>C
c.294T>C (p.Ala98=)
n.5396T>C
9g.132296995A>TCA467428529SETXc.5841T>A (p.Ala1947=)
c.567T>A (p.Ala189=)
n.5757T>A
c.294T>A (p.Ala98=)
n.5396T>A
9g.132296995_132296996delCA2692254071SETXc.5840_5841del (p.Ala1947AspfsTer?)
c.566_567del (p.Ala189AspfsTer?)
n.5756_5757del
c.293_294del (p.Ala98AspfsTer?)
n.5395_5396del
 gnomAD v4
9g.132296996G>ACA375344503SETXc.5840C>T (p.Ala1947Val)
c.566C>T (p.Ala189Val)
n.5756C>T
c.293C>T (p.Ala98Val)
n.5395C>T
 dbSNP gnomAD v2 gnomAD v4
9g.132296996G>CCA375344521SETXc.5840C>G (p.Ala1947Gly)
c.566C>G (p.Ala189Gly)
n.5756C>G
c.293C>G (p.Ala98Gly)
n.5395C>G
9g.132296996G=CA1882092147SETXc.5840C= (p.Ala1947=)
c.566C= (p.Ala189=)
n.5756C=
c.293C= (p.Ala98=)
n.5395C=
9g.132296996G>TCA375344506SETXc.5840C>A (p.Ala1947Asp)
c.566C>A (p.Ala189Asp)
n.5756C>A
c.293C>A (p.Ala98Asp)
n.5395C>A
9g.132296997C>ACA375344525SETXc.5839G>T (p.Ala1947Ser)
c.565G>T (p.Ala189Ser)
n.5755G>T
c.292G>T (p.Ala98Ser)
n.5394G>T
9g.132296997C=CA1882092151SETXc.5839G= (p.Ala1947=)
c.565G= (p.Ala189=)
n.5755G=
c.292G= (p.Ala98=)
n.5394G=
9g.132296997C>GCA375344527SETXc.5839G>C (p.Ala1947Pro)
c.565G>C (p.Ala189Pro)
n.5755G>C
c.292G>C (p.Ala98Pro)
n.5394G>C
9g.132296997C>TCA5296888SETXc.5839G>A (p.Ala1947Thr)
c.565G>A (p.Ala189Thr)
n.5755G>A
c.292G>A (p.Ala98Thr)
n.5394G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132296998A>CCA375344537SETXc.5838T>G (p.Tyr1946Ter)
c.564T>G (p.Tyr188Ter)
n.5754T>G
c.291T>G (p.Tyr97Ter)
n.5393T>G
9g.132296998A>GCA467428530SETXc.5838T>C (p.Tyr1946=)
c.564T>C (p.Tyr188=)
n.5754T>C
c.291T>C (p.Tyr97=)
n.5393T>C
9g.132296998A>TCA375344541SETXc.5838T>A (p.Tyr1946Ter)
c.564T>A (p.Tyr188Ter)
n.5754T>A
c.291T>A (p.Tyr97Ter)
n.5393T>A
9g.132296999T>ACA200818951SETXc.5837A>T (p.Tyr1946Phe)
c.563A>T (p.Tyr188Phe)
n.5753A>T
c.290A>T (p.Tyr97Phe)
n.5392A>T
 dbSNP gnomAD v4
9g.132296999T>CCA375344542SETXc.5837A>G (p.Tyr1946Cys)
c.563A>G (p.Tyr188Cys)
n.5753A>G
c.290A>G (p.Tyr97Cys)
n.5392A>G
 gnomAD v4
9g.132296999T>GCA375344545SETXc.5837A>C (p.Tyr1946Ser)
c.563A>C (p.Tyr188Ser)
n.5753A>C
c.290A>C (p.Tyr97Ser)
n.5392A>C
9g.132296999T=CA1882092161SETXc.5837A= (p.Tyr1946=)
c.563A= (p.Tyr188=)
n.5753A=
c.290A= (p.Tyr97=)
n.5392A=
9g.132297000A>CCA375344549SETXc.5836T>G (p.Tyr1946Asp)
c.562T>G (p.Tyr188Asp)
n.5752T>G
c.289T>G (p.Tyr97Asp)
n.5391T>G
9g.132297000A>GCA375344551SETXc.5836T>C (p.Tyr1946His)
c.562T>C (p.Tyr188His)
n.5752T>C
c.289T>C (p.Tyr97His)
n.5391T>C
9g.132297000A>TCA375344553SETXc.5836T>A (p.Tyr1946Asn)
c.562T>A (p.Tyr188Asn)
n.5752T>A
c.289T>A (p.Tyr97Asn)
n.5391T>A
9g.132297001T>ACA467428531SETXc.5835A>T (p.Ala1945=)
c.561A>T (p.Ala187=)
n.5751A>T
c.288A>T (p.Ala96=)
n.5390A>T
9g.132297001T>CCA467428532SETXc.5835A>G (p.Ala1945=)
c.561A>G (p.Ala187=)
n.5751A>G
c.288A>G (p.Ala96=)
n.5390A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.132297001T>GCA467428533SETXc.5835A>C (p.Ala1945=)
c.561A>C (p.Ala187=)
n.5751A>C
c.288A>C (p.Ala96=)
n.5390A>C
9g.132297001T=CA1882092162SETXc.5835A= (p.Ala1945=)
c.561A= (p.Ala187=)
n.5751A=
c.288A= (p.Ala96=)
n.5390A=
9g.132297002G>ACA200818955SETXc.5834C>T (p.Ala1945Val)
c.560C>T (p.Ala187Val)
n.5750C>T
c.287C>T (p.Ala96Val)
n.5389C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132297002G>CCA375344559SETXc.5834C>G (p.Ala1945Gly)
c.560C>G (p.Ala187Gly)
n.5750C>G
c.287C>G (p.Ala96Gly)
n.5389C>G
9g.132297002G=CA1882092166SETXc.5834C= (p.Ala1945=)
c.560C= (p.Ala187=)
n.5750C=
c.287C= (p.Ala96=)
n.5389C=
9g.132297002G>TCA375344558SETXc.5834C>A (p.Ala1945Glu)
c.560C>A (p.Ala187Glu)
n.5750C>A
c.287C>A (p.Ala96Glu)
n.5389C>A
9g.132297003C>ACA375344560SETXc.5833G>T (p.Ala1945Ser)
c.559G>T (p.Ala187Ser)
n.5749G>T
c.286G>T (p.Ala96Ser)
n.5388G>T
9g.132297003C=CA1882092167SETXc.5833G= (p.Ala1945=)
c.559G= (p.Ala187=)
n.5749G=
c.286G= (p.Ala96=)
n.5388G=
9g.132297003C>GCA200818962SETXc.5833G>C (p.Ala1945Pro)
c.559G>C (p.Ala187Pro)
n.5749G>C
c.286G>C (p.Ala96Pro)
n.5388G>C
 ClinVar dbSNP
9g.132297003C>TCA375344561SETXc.5833G>A (p.Ala1945Thr)
c.559G>A (p.Ala187Thr)
n.5749G>A
c.286G>A (p.Ala96Thr)
n.5388G>A
 COSMIC COSMIC
9g.132297004A>CCA467428535SETXc.5832T>G (p.Thr1944=)
c.558T>G (p.Thr186=)
n.5748T>G
c.285T>G (p.Thr95=)
n.5387T>G
9g.132297004A>GCA467428536SETXc.5832T>C (p.Thr1944=)
c.558T>C (p.Thr186=)
n.5748T>C
c.285T>C (p.Thr95=)
n.5387T>C
 gnomAD v4
9g.132297004A>TCA467428534SETXc.5832T>A (p.Thr1944=)
c.558T>A (p.Thr186=)
n.5748T>A
c.285T>A (p.Thr95=)
n.5387T>A
9g.132297005G>ACA375344562SETXc.5831C>T (p.Thr1944Ile)
c.557C>T (p.Thr186Ile)
n.5747C>T
c.284C>T (p.Thr95Ile)
n.5386C>T
9g.132297005G>CCA375344563SETXc.5831C>G (p.Thr1944Ser)
c.557C>G (p.Thr186Ser)
n.5747C>G
c.284C>G (p.Thr95Ser)
n.5386C>G
9g.132297005G>TCA375344564SETXc.5831C>A (p.Thr1944Asn)
c.557C>A (p.Thr186Asn)
n.5747C>A
c.284C>A (p.Thr95Asn)
n.5386C>A
9g.132297005_132297015delinsGTTTCTATTGCCA1882092169SETXc.5821_5831delinsGCAATAGAAAC (p.Ala1941=)
c.547_557delinsGCAATAGAAAC (p.Ala183=)
n.5737_5747delinsGCAATAGAAAC
c.274_284delinsGCAATAGAAAC (p.Ala92=)
n.5376_5386delinsGCAATAGAAAC
9g.132297006T>ACA375344567SETXc.5830A>T (p.Thr1944Ser)
c.556A>T (p.Thr186Ser)
n.5746A>T
c.283A>T (p.Thr95Ser)
n.5385A>T
9g.132297006T>CCA375344568SETXc.5830A>G (p.Thr1944Ala)
c.556A>G (p.Thr186Ala)
n.5746A>G
c.283A>G (p.Thr95Ala)
n.5385A>G
9g.132297006T>GCA375344571SETXc.5830A>C (p.Thr1944Pro)
c.556A>C (p.Thr186Pro)
n.5746A>C
c.283A>C (p.Thr95Pro)
n.5385A>C
9g.132297011_132297020delCA276162SETXc.5821_5830del (p.Ala1941LeufsTer6)
c.547_556del (p.Ala183LeufsTer6)
n.5737_5746del
c.274_283del (p.Ala92LeufsTer6)
n.5376_5385del
 ClinVar dbSNP
9g.132297007T>ACA375344581SETXc.5829A>T (p.Glu1943Asp)
c.555A>T (p.Glu185Asp)
n.5745A>T
c.282A>T (p.Glu94Asp)
n.5384A>T
9g.132297007T>CCA467428537SETXc.5829A>G (p.Glu1943=)
c.555A>G (p.Glu185=)
n.5745A>G
c.282A>G (p.Glu94=)
n.5384A>G
9g.132297007T>GCA375344584SETXc.5829A>C (p.Glu1943Asp)
c.555A>C (p.Glu185Asp)
n.5745A>C
c.282A>C (p.Glu94Asp)
n.5384A>C
9g.132297008T>ACA375344587SETXc.5828A>T (p.Glu1943Val)
c.554A>T (p.Glu185Val)
n.5744A>T
c.281A>T (p.Glu94Val)
n.5383A>T
9g.132297008T>CCA375344586SETXc.5828A>G (p.Glu1943Gly)
c.554A>G (p.Glu185Gly)
n.5744A>G
c.281A>G (p.Glu94Gly)
n.5383A>G
9g.132297008T>GCA375344585SETXc.5828A>C (p.Glu1943Ala)
c.554A>C (p.Glu185Ala)
n.5744A>C
c.281A>C (p.Glu94Ala)
n.5383A>C
9g.132297009C>ACA375344591SETXc.5827G>T (p.Glu1943Ter)
c.553G>T (p.Glu185Ter)
n.5743G>T
c.280G>T (p.Glu94Ter)
n.5382G>T
9g.132297009C>GCA375344588SETXc.5827G>C (p.Glu1943Gln)
c.553G>C (p.Glu185Gln)
n.5743G>C
c.280G>C (p.Glu94Gln)
n.5382G>C
9g.132297009C>TCA375344589SETXc.5827G>A (p.Glu1943Lys)
c.553G>A (p.Glu185Lys)
n.5743G>A
c.280G>A (p.Glu94Lys)
n.5382G>A
9g.132297010T>ACA467428538SETXc.5826A>T (p.Ile1942=)
c.552A>T (p.Ile184=)
n.5742A>T
c.279A>T (p.Ile93=)
n.5381A>T
9g.132297010T>CCA200818995SETXc.5826A>G (p.Ile1942Met)
c.552A>G (p.Ile184Met)
n.5742A>G
c.279A>G (p.Ile93Met)
n.5381A>G
 dbSNP
9g.132297010T>GCA467428539SETXc.5826A>C (p.Ile1942=)
c.552A>C (p.Ile184=)
n.5742A>C
c.279A>C (p.Ile93=)
n.5381A>C
9g.132297010T=CA1882092171SETXc.5826A= (p.Ile1942=)
c.552A= (p.Ile184=)
n.5742A=
c.279A= (p.Ile93=)
n.5381A=
9g.132297011A=CA1882092183SETXc.5825T= (p.Ile1942=)
c.551T= (p.Ile184=)
n.5741T=
c.278T= (p.Ile93=)
n.5380T=
9g.132297011A>CCA375344597SETXc.5825T>G (p.Ile1942Arg)
c.551T>G (p.Ile184Arg)
n.5741T>G
c.278T>G (p.Ile93Arg)
n.5380T>G
9g.132297011A>GCA5296889SETXc.5825T>C (p.Ile1942Thr)
c.551T>C (p.Ile184Thr)
n.5741T>C
c.278T>C (p.Ile93Thr)
n.5380T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132297011A>TCA375344609SETXc.5825T>A (p.Ile1942Lys)
c.551T>A (p.Ile184Lys)
n.5741T>A
c.278T>A (p.Ile93Lys)
n.5380T>A

Number of alleles fetched