Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.191375082G>ACA2755267CCDC50c.469G>A (p.Ala157Thr)
c.448+5046G>A (n.448+5046G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375082G>CCA355763569CCDC50c.469G>C (p.Ala157Pro)
c.448+5046G>C (n.448+5046G>C)
3g.191375082G=CA1429222123CCDC50c.469G= (p.Ala157=)
c.448+5046G= (n.448+5046G=)
3g.191375082G>TCA355763573CCDC50c.469G>T (p.Ala157Ser)
c.448+5046G>T (n.448+5046G>T)
3g.191375083C>ACA355763575CCDC50c.470C>A (p.Ala157Asp)
c.448+5047C>A (n.448+5047C>A)
gnomAD v4
3g.191375083C>GCA355763576CCDC50c.470C>G (p.Ala157Gly)
c.448+5047C>G (n.448+5047C>G)
3g.191375083C>TCA355763578CCDC50c.470C>T (p.Ala157Val)
c.448+5047C>T (n.448+5047C>T)
gnomAD v4
3g.191375084C>ACA437422051CCDC50c.471C>A (p.Ala157=)
c.448+5048C>A (n.448+5048C>A)
dbSNP
3g.191375084C=CA1429222124CCDC50c.471C= (p.Ala157=)
c.448+5048C= (n.448+5048C=)
3g.191375084C>GCA437422053CCDC50c.471C>G (p.Ala157=)
c.448+5048C>G (n.448+5048C>G)
3g.191375084C>TCA437422054CCDC50c.471C>T (p.Ala157=)
c.448+5048C>T (n.448+5048C>T)
3g.191375085A>CCA437422055CCDC50c.472A>C (p.Arg158=)
c.448+5049A>C (n.448+5049A>C)
3g.191375085A>GCA355763580CCDC50c.472A>G (p.Arg158Gly)
c.448+5049A>G (n.448+5049A>G)
gnomAD v4
3g.191375085A>TCA355763581CCDC50c.472A>T (p.Arg158Trp)
c.448+5049A>T (n.448+5049A>T)
COSMIC
3g.191375086G>ACA355763583CCDC50c.473G>A (p.Arg158Lys)
c.448+5050G>A (n.448+5050G>A)
3g.191375086G>CCA355763584CCDC50c.473G>C (p.Arg158Thr)
c.448+5050G>C (n.448+5050G>C)
gnomAD v4
3g.191375086G=CA1429222125CCDC50c.473G= (p.Arg158=)
c.448+5050G= (n.448+5050G=)
3g.191375086G>TCA2755268CCDC50c.473G>T (p.Arg158Met)
c.448+5050G>T (n.448+5050G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375087G>ACA2755269CCDC50c.474G>A (p.Arg158=)
c.448+5051G>A (n.448+5051G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375087G>CCA355763586CCDC50c.474G>C (p.Arg158Ser)
c.448+5051G>C (n.448+5051G>C)
gnomAD v4
3g.191375087G=CA1429222126CCDC50c.474G= (p.Arg158=)
c.448+5051G= (n.448+5051G=)
3g.191375087G>TCA355763587CCDC50c.474G>T (p.Arg158Ser)
c.448+5051G>T (n.448+5051G>T)
3g.191375088G>ACA355763591CCDC50c.475G>A (p.Glu159Lys)
c.448+5052G>A (n.448+5052G>A)
3g.191375088G>CCA355763592CCDC50c.475G>C (p.Glu159Gln)
c.448+5052G>C (n.448+5052G>C)
3g.191375088G>TCA355763594CCDC50c.475G>T (p.Glu159Ter)
c.448+5052G>T (n.448+5052G>T)
3g.191375089A>CCA355763596CCDC50c.476A>C (p.Glu159Ala)
c.448+5053A>C (n.448+5053A>C)
3g.191375089A>GCA355763598CCDC50c.476A>G (p.Glu159Gly)
c.448+5053A>G (n.448+5053A>G)
3g.191375089A>TCA355763600CCDC50c.476A>T (p.Glu159Val)
c.448+5053A>T (n.448+5053A>T)
3g.191375090A>CCA355763602CCDC50c.477A>C (p.Glu159Asp)
c.448+5054A>C (n.448+5054A>C)
3g.191375090A>GCA437422057CCDC50c.477A>G (p.Glu159=)
c.448+5054A>G (n.448+5054A>G)
3g.191375090A>TCA355763604CCDC50c.477A>T (p.Glu159Asp)
c.448+5054A>T (n.448+5054A>T)
3g.191375091T>ACA355763606CCDC50c.478T>A (p.Leu160Met)
c.448+5055T>A (n.448+5055T>A)
3g.191375091T>CCA437422058CCDC50c.478T>C (p.Leu160=)
c.448+5055T>C (n.448+5055T>C)
3g.191375091T>GCA355763607CCDC50c.478T>G (p.Leu160Val)
c.448+5055T>G (n.448+5055T>G)
3g.191375092T>ACA355763613CCDC50c.479T>A (p.Leu160Ter)
c.448+5056T>A (n.448+5056T>A)
3g.191375092T>CCA355763611CCDC50c.479T>C (p.Leu160Ser)
c.448+5056T>C (n.448+5056T>C)
3g.191375092T>GCA355763609CCDC50c.479T>G (p.Leu160Trp)
c.448+5056T>G (n.448+5056T>G)
3g.191375093G>ACA437422062CCDC50c.480G>A (p.Leu160=)
c.448+5057G>A (n.448+5057G>A)
gnomAD v4
3g.191375093G>CCA355763615CCDC50c.480G>C (p.Leu160Phe)
c.448+5057G>C (n.448+5057G>C)
3g.191375093G>TCA355763617CCDC50c.480G>T (p.Leu160Phe)
c.448+5057G>T (n.448+5057G>T)
gnomAD v4
3g.191375094G>ACA355763619CCDC50c.481G>A (p.Gly161Ser)
c.448+5058G>A (n.448+5058G>A)
3g.191375094G>CCA355763621CCDC50c.481G>C (p.Gly161Arg)
c.448+5058G>C (n.448+5058G>C)
3g.191375094G>TCA355763622CCDC50c.481G>T (p.Gly161Cys)
c.448+5058G>T (n.448+5058G>T)
3g.191375095G>ACA355763623CCDC50c.482G>A (p.Gly161Asp)
c.448+5059G>A (n.448+5059G>A)
3g.191375095G>CCA355763625CCDC50c.482G>C (p.Gly161Ala)
c.448+5059G>C (n.448+5059G>C)
3g.191375095G>TCA355763627CCDC50c.482G>T (p.Gly161Val)
c.448+5059G>T (n.448+5059G>T)
3g.191375096T>ACA437422066CCDC50c.483T>A (p.Gly161=)
c.448+5060T>A (n.448+5060T>A)
3g.191375096T>CCA437422068CCDC50c.483T>C (p.Gly161=)
c.448+5060T>C (n.448+5060T>C)
dbSNP gnomAD v2
3g.191375096T>GCA437422067CCDC50c.483T>G (p.Gly161=)
c.448+5060T>G (n.448+5060T>G)
dbSNP
3g.191375096T=CA1429222127CCDC50c.483T= (p.Gly161=)
c.448+5060T= (n.448+5060T=)
3g.191375097T>ACA355763629CCDC50c.484T>A (p.Ser162Thr)
c.449-5062T>A (n.449-5062T>A)
3g.191375097T>CCA355763631CCDC50c.484T>C (p.Ser162Pro)
c.449-5062T>C (n.449-5062T>C)
3g.191375097T>GCA355763633CCDC50c.484T>G (p.Ser162Ala)
c.449-5062T>G (n.449-5062T>G)
3g.191375098C>ACA355763635CCDC50c.485C>A (p.Ser162Tyr)
c.449-5061C>A (n.449-5061C>A)
3g.191375098C>GCA355763637CCDC50c.485C>G (p.Ser162Cys)
c.449-5061C>G (n.449-5061C>G)
3g.191375098C>TCA355763639CCDC50c.485C>T (p.Ser162Phe)
c.449-5061C>T (n.449-5061C>T)
3g.191375099T>ACA437422072CCDC50c.486T>A (p.Ser162=)
c.449-5060T>A (n.449-5060T>A)
3g.191375099T>CCA437422073CCDC50c.486T>C (p.Ser162=)
c.449-5060T>C (n.449-5060T>C)
gnomAD v4
3g.191375099T>GCA89778641CCDC50c.486T>G (p.Ser162=)
c.449-5060T>G (n.449-5060T>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375099T=CA1429222128CCDC50c.486T= (p.Ser162=)
c.449-5060T= (n.449-5060T=)
3g.191375100G>ACA2755270CCDC50c.487G>A (p.Gly163Arg)
c.449-5059G>A (n.449-5059G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375100G>CCA355763642CCDC50c.487G>C (p.Gly163Arg)
c.449-5059G>C (n.449-5059G>C)
3g.191375100G=CA1429222129CCDC50c.487G= (p.Gly163=)
c.449-5059G= (n.449-5059G=)
3g.191375100G>TCA355763644CCDC50c.487G>T (p.Gly163Ter)
c.449-5059G>T (n.449-5059G>T)
3g.191375101G>ACA355763646CCDC50c.488G>A (p.Gly163Glu)
c.449-5058G>A (n.449-5058G>A)
3g.191375101G>CCA355763650CCDC50c.488G>C (p.Gly163Ala)
c.449-5058G>C (n.449-5058G>C)
3g.191375101G>TCA355763648CCDC50c.488G>T (p.Gly163Val)
c.449-5058G>T (n.449-5058G>T)
3g.191375102A>CCA437422075CCDC50c.489A>C (p.Gly163=)
c.449-5057A>C (n.449-5057A>C)
3g.191375102A>GCA437422076CCDC50c.489A>G (p.Gly163=)
c.449-5057A>G (n.449-5057A>G)
3g.191375102A>TCA437422077CCDC50c.489A>T (p.Gly163=)
c.449-5057A>T (n.449-5057A>T)
gnomAD v4
3g.191375103T>ACA355763652CCDC50c.490T>A (p.Phe164Ile)
c.449-5056T>A (n.449-5056T>A)
3g.191375103T>CCA355763656CCDC50c.490T>C (p.Phe164Leu)
c.449-5056T>C (n.449-5056T>C)
3g.191375103T>GCA355763654CCDC50c.490T>G (p.Phe164Val)
c.449-5056T>G (n.449-5056T>G)
3g.191375104T>ACA355763657CCDC50c.491T>A (p.Phe164Tyr)
c.449-5055T>A (n.449-5055T>A)
3g.191375104T>CCA355763658CCDC50c.491T>C (p.Phe164Ser)
c.449-5055T>C (n.449-5055T>C)
3g.191375104T>GCA355763660CCDC50c.491T>G (p.Phe164Cys)
c.449-5055T>G (n.449-5055T>G)
3g.191375105C>ACA355763661CCDC50c.492C>A (p.Phe164Leu)
c.449-5054C>A (n.449-5054C>A)
3g.191375105C>GCA355763663CCDC50c.492C>G (p.Phe164Leu)
c.449-5054C>G (n.449-5054C>G)
3g.191375105C>TCA437422081CCDC50c.492C>T (p.Phe164=)
c.449-5054C>T (n.449-5054C>T)
gnomAD v4
3g.191375106T>ACA355763666CCDC50c.493T>A (p.Ser165Thr)
c.449-5053T>A (n.449-5053T>A)
3g.191375106T>CCA355763667CCDC50c.493T>C (p.Ser165Pro)
c.449-5053T>C (n.449-5053T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375106T>GCA355763669CCDC50c.493T>G (p.Ser165Ala)
c.449-5053T>G (n.449-5053T>G)
3g.191375106T=CA1429222130CCDC50c.493T= (p.Ser165=)
c.449-5053T= (n.449-5053T=)
3g.191375107C>ACA355763672CCDC50c.494C>A (p.Ser165Ter)
c.449-5052C>A (n.449-5052C>A)
3g.191375107C=CA1429222131CCDC50c.494C= (p.Ser165=)
c.449-5052C= (n.449-5052C=)
3g.191375107C>GCA355763673CCDC50c.494C>G (p.Ser165Ter)
c.449-5052C>G (n.449-5052C>G)
dbSNP
3g.191375107C>TCA89778643CCDC50c.494C>T (p.Ser165Leu)
c.449-5052C>T (n.449-5052C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375108A=CA1429222132CCDC50c.495A= (p.Ser165=)
c.449-5051A= (n.449-5051A=)
3g.191375108A>CCA437422085CCDC50c.495A>C (p.Ser165=)
c.449-5051A>C (n.449-5051A>C)
3g.191375108A>GCA437422086CCDC50c.495A>G (p.Ser165=)
c.449-5051A>G (n.449-5051A>G)
3g.191375108A>TCA437422087CCDC50c.495A>T (p.Ser165=)
c.449-5051A>T (n.449-5051A>T)
3g.191375108_191375109insTCA2755271CCDC50c.495_496insT (p.Arg166Ter)
c.449-5051_449-5050insT (n.449-5051_449-5050insT)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375109A>CCA437422088CCDC50c.496A>C (p.Arg166=)
c.449-5050A>C (n.449-5050A>C)
3g.191375109A>GCA355763679CCDC50c.496A>G (p.Arg166Gly)
c.449-5050A>G (n.449-5050A>G)
3g.191375109A>TCA355763677CCDC50c.496A>T (p.Arg166Ter)
c.449-5050A>T (n.449-5050A>T)
3g.191375110G>ACA355763682CCDC50c.497G>A (p.Arg166Lys)
c.449-5049G>A (n.449-5049G>A)
3g.191375110G>CCA355763683CCDC50c.497G>C (p.Arg166Thr)
c.449-5049G>C (n.449-5049G>C)
gnomAD v4
3g.191375110G=CA1429222133CCDC50c.497G= (p.Arg166=)
c.449-5049G= (n.449-5049G=)
3g.191375110G>TCA355763684CCDC50c.497G>T (p.Arg166Ile)
c.449-5049G>T (n.449-5049G>T)
ClinVar dbSNP gnomAD v4
3g.191375111A>CCA355763686CCDC50c.498A>C (p.Arg166Ser)
c.449-5048A>C (n.449-5048A>C)
3g.191375111A>GCA437422090CCDC50c.498A>G (p.Arg166=)
c.449-5048A>G (n.449-5048A>G)
3g.191375111A>TCA355763688CCDC50c.498A>T (p.Arg166Ser)
c.449-5048A>T (n.449-5048A>T)
3g.191375112C>ACA355763690CCDC50c.499C>A (p.Pro167Thr)
c.449-5047C>A (n.449-5047C>A)
3g.191375112C=CA1429222134CCDC50c.499C= (p.Pro167=)
c.449-5047C= (n.449-5047C=)
3g.191375112C>GCA355763692CCDC50c.499C>G (p.Pro167Ala)
c.449-5047C>G (n.449-5047C>G)
dbSNP gnomAD v4
3g.191375112C>TCA355763694CCDC50c.499C>T (p.Pro167Ser)
c.449-5047C>T (n.449-5047C>T)
3g.191375113C>ACA355763696CCDC50c.500C>A (p.Pro167His)
c.449-5046C>A (n.449-5046C>A)
3g.191375113C=CA1429222135CCDC50c.500C= (p.Pro167=)
c.449-5046C= (n.449-5046C=)
3g.191375113C>GCA355763698CCDC50c.500C>G (p.Pro167Arg)
c.449-5046C>G (n.449-5046C>G)
3g.191375113C>TCA2755272CCDC50c.500C>T (p.Pro167Leu)
c.449-5046C>T (n.449-5046C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.191375114T>ACA437422093CCDC50c.501T>A (p.Pro167=)
c.449-5045T>A (n.449-5045T>A)
3g.191375114T>CCA437422095CCDC50c.501T>C (p.Pro167=)
c.449-5045T>C (n.449-5045T>C)
3g.191375114T>GCA437422094CCDC50c.501T>G (p.Pro167=)
c.449-5045T>G (n.449-5045T>G)
3g.191375115T>ACA355763705CCDC50c.502T>A (p.Cys168Ser)
c.449-5044T>A (n.449-5044T>A)
3g.191375115T>CCA355763704CCDC50c.502T>C (p.Cys168Arg)
c.449-5044T>C (n.449-5044T>C)
3g.191375115T>GCA355763701CCDC50c.502T>G (p.Cys168Gly)
c.449-5044T>G (n.449-5044T>G)
3g.191375116G>ACA2755273CCDC50c.503G>A (p.Cys168Tyr)
c.449-5043G>A (n.449-5043G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375116G>CCA355763708CCDC50c.503G>C (p.Cys168Ser)
c.449-5043G>C (n.449-5043G>C)
3g.191375116G=CA1429222136CCDC50c.503G= (p.Cys168=)
c.449-5043G= (n.449-5043G=)
3g.191375116G>TCA355763710CCDC50c.503G>T (p.Cys168Phe)
c.449-5043G>T (n.449-5043G>T)
3g.191375117T>ACA355763712CCDC50c.504T>A (p.Cys168Ter)
c.449-5042T>A (n.449-5042T>A)
3g.191375117T>CCA437422097CCDC50c.504T>C (p.Cys168=)
c.449-5042T>C (n.449-5042T>C)
3g.191375117T>GCA355763714CCDC50c.504T>G (p.Cys168Trp)
c.449-5042T>G (n.449-5042T>G)
gnomAD v4
3g.191375118A>CCA437422098CCDC50c.505A>C (p.Arg169=)
c.449-5041A>C (n.449-5041A>C)
3g.191375118A>GCA355763716CCDC50c.505A>G (p.Arg169Gly)
c.449-5041A>G (n.449-5041A>G)
gnomAD v4
3g.191375118A>TCA355763718CCDC50c.505A>T (p.Arg169Ter)
c.449-5041A>T (n.449-5041A>T)
3g.191375119G>ACA355763721CCDC50c.506G>A (p.Arg169Lys)
c.449-5040G>A (n.449-5040G>A)
3g.191375119G>CCA355763722CCDC50c.506G>C (p.Arg169Thr)
c.449-5040G>C (n.449-5040G>C)
3g.191375119G>TCA355763724CCDC50c.506G>T (p.Arg169Ile)
c.449-5040G>T (n.449-5040G>T)
3g.191375120A>CCA355763726CCDC50c.507A>C (p.Arg169Ser)
c.449-5039A>C (n.449-5039A>C)
3g.191375120A>GCA437422099CCDC50c.507A>G (p.Arg169=)
c.449-5039A>G (n.449-5039A>G)
gnomAD v4
3g.191375120A>TCA355763728CCDC50c.507A>T (p.Arg169Ser)
c.449-5039A>T (n.449-5039A>T)
gnomAD v4
3g.191375121C>ACA355763734CCDC50c.508C>A (p.Leu170Ile)
c.449-5038C>A (n.449-5038C>A)
3g.191375121C>GCA355763732CCDC50c.508C>G (p.Leu170Val)
c.449-5038C>G (n.449-5038C>G)
3g.191375121C>TCA355763730CCDC50c.508C>T (p.Leu170Phe)
c.449-5038C>T (n.449-5038C>T)
gnomAD v4
3g.191375122T>ACA355763736CCDC50c.509T>A (p.Leu170His)
c.449-5037T>A (n.449-5037T>A)
3g.191375122T>CCA2755274CCDC50c.509T>C (p.Leu170Pro)
c.449-5037T>C (n.449-5037T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375122T>GCA355763739CCDC50c.509T>G (p.Leu170Arg)
c.449-5037T>G (n.449-5037T>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375122T=CA1429222137CCDC50c.509T= (p.Leu170=)
c.449-5037T= (n.449-5037T=)
3g.191375123C>ACA437422107CCDC50c.510C>A (p.Leu170=)
c.449-5036C>A (n.449-5036C>A)
3g.191375123C>GCA437422108CCDC50c.510C>G (p.Leu170=)
c.449-5036C>G (n.449-5036C>G)
3g.191375123C>TCA437422104CCDC50c.510C>T (p.Leu170=)
c.449-5036C>T (n.449-5036C>T)
gnomAD v4
3g.191375124C>ACA355763741CCDC50c.511C>A (p.Gln171Lys)
c.449-5035C>A (n.449-5035C>A)
3g.191375124C>GCA355763743CCDC50c.511C>G (p.Gln171Glu)
c.449-5035C>G (n.449-5035C>G)
3g.191375124C>TCA355763745CCDC50c.511C>T (p.Gln171Ter)
c.449-5035C>T (n.449-5035C>T)
gnomAD v4
3g.191375125A>CCA355763747CCDC50c.512A>C (p.Gln171Pro)
c.449-5034A>C (n.449-5034A>C)
3g.191375125A>GCA355763749CCDC50c.512A>G (p.Gln171Arg)
c.449-5034A>G (n.449-5034A>G)
3g.191375125A>TCA355763751CCDC50c.512A>T (p.Gln171Leu)
c.449-5034A>T (n.449-5034A>T)
3g.191375126A=CA1429222138CCDC50c.513A= (p.Gln171=)
c.449-5033A= (n.449-5033A=)
3g.191375126A>CCA355763753CCDC50c.513A>C (p.Gln171His)
c.449-5033A>C (n.449-5033A>C)
3g.191375126A>GCA437422110CCDC50c.513A>G (p.Gln171=)
c.449-5033A>G (n.449-5033A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375126A>TCA355763755CCDC50c.513A>T (p.Gln171His)
c.449-5033A>T (n.449-5033A>T)
3g.191375127A>CCA437422111CCDC50c.514A>C (p.Arg172=)
c.449-5032A>C (n.449-5032A>C)
3g.191375127A>GCA355763756CCDC50c.514A>G (p.Arg172Gly)
c.449-5032A>G (n.449-5032A>G)
3g.191375127A>TCA355763758CCDC50c.514A>T (p.Arg172Ter)
c.449-5032A>T (n.449-5032A>T)
3g.191375128G>ACA355763764CCDC50c.515G>A (p.Arg172Lys)
c.449-5031G>A (n.449-5031G>A)
3g.191375128G>CCA355763762CCDC50c.515G>C (p.Arg172Thr)
c.449-5031G>C (n.449-5031G>C)
3g.191375128G>TCA355763760CCDC50c.515G>T (p.Arg172Ile)
c.449-5031G>T (n.449-5031G>T)
3g.191375129A=CA1429222139CCDC50c.516A= (p.Arg172=)
c.449-5030A= (n.449-5030A=)
3g.191375129A>CCA355763769CCDC50c.516A>C (p.Arg172Ser)
c.449-5030A>C (n.449-5030A>C)
3g.191375129A>GCA437422113CCDC50c.516A>G (p.Arg172=)
c.449-5030A>G (n.449-5030A>G)
dbSNP gnomAD v4
3g.191375129A>TCA355763767CCDC50c.516A>T (p.Arg172Ser)
c.449-5030A>T (n.449-5030A>T)
3g.191375130G>ACA355763775CCDC50c.517G>A (p.Asp173Asn)
c.449-5029G>A (n.449-5029G>A)
3g.191375130G>CCA355763771CCDC50c.517G>C (p.Asp173His)
c.449-5029G>C (n.449-5029G>C)
3g.191375130G>TCA355763773CCDC50c.517G>T (p.Asp173Tyr)
c.449-5029G>T (n.449-5029G>T)
3g.191375131A>CCA355763777CCDC50c.518A>C (p.Asp173Ala)
c.449-5028A>C (n.449-5028A>C)
3g.191375131A>GCA355763779CCDC50c.518A>G (p.Asp173Gly)
c.449-5028A>G (n.449-5028A>G)
gnomAD v4
3g.191375131A>TCA355763782CCDC50c.518A>T (p.Asp173Val)
c.449-5028A>T (n.449-5028A>T)
3g.191375132T>ACA355763785CCDC50c.519T>A (p.Asp173Glu)
c.449-5027T>A (n.449-5027T>A)
3g.191375132T>CCA437422115CCDC50c.519T>C (p.Asp173=)
c.449-5027T>C (n.449-5027T>C)
gnomAD v4
3g.191375132T>GCA355763786CCDC50c.519T>G (p.Asp173Glu)
c.449-5027T>G (n.449-5027T>G)
3g.191375132T=CA1429222140CCDC50c.519T= (p.Asp173=)
c.449-5027T= (n.449-5027T=)
3g.191375133G>ACA355763793CCDC50c.520G>A (p.Gly174Arg)
c.449-5026G>A (n.449-5026G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.191375133G>CCA355763791CCDC50c.520G>C (p.Gly174Arg)
c.449-5026G>C (n.449-5026G>C)
3g.191375133G=CA1429222141CCDC50c.520G= (p.Gly174=)
c.449-5026G= (n.449-5026G=)
3g.191375133G>TCA355763789CCDC50c.520G>T (p.Gly174Ter)
c.449-5026G>T (n.449-5026G>T)
3g.191375133_191375134dupCA2755275CCDC50c.520_521dup (p.Lys175GlufsTer4)
c.449-5026_449-5025dup (n.449-5026_449-5025dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375134G>ACA355763796CCDC50c.521G>A (p.Gly174Glu)
c.449-5025G>A (n.449-5025G>A)
3g.191375134G>CCA355763798CCDC50c.521G>C (p.Gly174Ala)
c.449-5025G>C (n.449-5025G>C)
3g.191375134G>TCA355763799CCDC50c.521G>T (p.Gly174Val)
c.449-5025G>T (n.449-5025G>T)
3g.191375135A>CCA437422117CCDC50c.522A>C (p.Gly174=)
c.449-5024A>C (n.449-5024A>C)
3g.191375135A>GCA437422118CCDC50c.522A>G (p.Gly174=)
c.449-5024A>G (n.449-5024A>G)
3g.191375135A>TCA437422119CCDC50c.522A>T (p.Gly174=)
c.449-5024A>T (n.449-5024A>T)
3g.191375136A>CCA355763801CCDC50c.523A>C (p.Lys175Gln)
c.449-5023A>C (n.449-5023A>C)
3g.191375136A>GCA355763805CCDC50c.523A>G (p.Lys175Glu)
c.449-5023A>G (n.449-5023A>G)
3g.191375136A>TCA355763803CCDC50c.523A>T (p.Lys175Ter)
c.449-5023A>T (n.449-5023A>T)
3g.191375137A=CA1429222142CCDC50c.524A= (p.Lys175=)
c.449-5022A= (n.449-5022A=)
3g.191375137A>CCA355763808CCDC50c.524A>C (p.Lys175Thr)
c.449-5022A>C (n.449-5022A>C)
3g.191375137A>GCA89778647CCDC50c.524A>G (p.Lys175Arg)
c.449-5022A>G (n.449-5022A>G)
dbSNP
3g.191375137A>TCA355763811CCDC50c.524A>T (p.Lys175Met)
c.449-5022A>T (n.449-5022A>T)
3g.191375138G>ACA2755276CCDC50c.525G>A (p.Lys175=)
c.449-5021G>A (n.449-5021G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375138G>CCA355763814CCDC50c.525G>C (p.Lys175Asn)
c.449-5021G>C (n.449-5021G>C)
3g.191375138G=CA1429222143CCDC50c.525G= (p.Lys175=)
c.449-5021G= (n.449-5021G=)
3g.191375138G>TCA355763816CCDC50c.525G>T (p.Lys175Asn)
c.449-5021G>T (n.449-5021G>T)
dbSNP gnomAD v4
3g.191375139A>CCA355763819CCDC50c.526A>C (p.Thr176Pro)
c.449-5020A>C (n.449-5020A>C)
3g.191375139A>GCA355763820CCDC50c.526A>G (p.Thr176Ala)
c.449-5020A>G (n.449-5020A>G)
3g.191375139A>TCA355763822CCDC50c.526A>T (p.Thr176Ser)
c.449-5020A>T (n.449-5020A>T)
3g.191375140C>ACA355763825CCDC50c.527C>A (p.Thr176Asn)
c.449-5019C>A (n.449-5019C>A)
3g.191375140C>GCA355763827CCDC50c.527C>G (p.Thr176Ser)
c.449-5019C>G (n.449-5019C>G)
3g.191375140C>TCA355763829CCDC50c.527C>T (p.Thr176Ile)
c.449-5019C>T (n.449-5019C>T)
gnomAD v4
3g.191375140_191375142delinsCTGCA1429222144CCDC50c.527_529delinsCTG (p.Thr176=)
c.449-5019_449-5017delinsCTG (n.449-5019_449-5017delinsCTG)
3g.191375141T>ACA437422124CCDC50c.528T>A (p.Thr176=)
c.449-5018T>A (n.449-5018T>A)
3g.191375141T>CCA437422125CCDC50c.528T>C (p.Thr176=)
c.449-5018T>C (n.449-5018T>C)
gnomAD v4
3g.191375141T>GCA437422126CCDC50c.528T>G (p.Thr176=)
c.449-5018T>G (n.449-5018T>G)
3g.191375143_191375144delCA2755277CCDC50c.530_531del (p.Val177GlufsTer?)
c.449-5016_449-5015del (n.449-5016_449-5015del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375142G>ACA355763835CCDC50c.529G>A (p.Val177Met)
c.449-5017G>A (n.449-5017G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375142G>CCA355763832CCDC50c.529G>C (p.Val177Leu)
c.449-5017G>C (n.449-5017G>C)
3g.191375142G=CA1429222145CCDC50c.529G= (p.Val177=)
c.449-5017G= (n.449-5017G=)
3g.191375142G>TCA355763833CCDC50c.529G>T (p.Val177Leu)
c.449-5017G>T (n.449-5017G>T)
3g.191375143T>ACA355763838CCDC50c.530T>A (p.Val177Glu)
c.449-5016T>A (n.449-5016T>A)
3g.191375143T>CCA355763839CCDC50c.530T>C (p.Val177Ala)
c.449-5016T>C (n.449-5016T>C)
3g.191375143T>GCA355763841CCDC50c.530T>G (p.Val177Gly)
c.449-5016T>G (n.449-5016T>G)
3g.191375144G>ACA437422129CCDC50c.531G>A (p.Val177=)
c.449-5015G>A (n.449-5015G>A)
3g.191375144G>CCA437422130CCDC50c.531G>C (p.Val177=)
c.449-5015G>C (n.449-5015G>C)
dbSNP
3g.191375144G=CA1429222146CCDC50c.531G= (p.Val177=)
c.449-5015G= (n.449-5015G=)
3g.191375144G>TCA437422131CCDC50c.531G>T (p.Val177=)
c.449-5015G>T (n.449-5015G>T)
3g.191375145A>CCA355763843CCDC50c.532A>C (p.Lys178Gln)
c.449-5014A>C (n.449-5014A>C)
3g.191375145A>GCA355763845CCDC50c.532A>G (p.Lys178Glu)
c.449-5014A>G (n.449-5014A>G)
3g.191375145A>TCA355763846CCDC50c.532A>T (p.Lys178Ter)
c.449-5014A>T (n.449-5014A>T)
3g.191375146A>CCA355763847CCDC50c.533A>C (p.Lys178Thr)
c.449-5013A>C (n.449-5013A>C)
3g.191375146A>GCA355763848CCDC50c.533A>G (p.Lys178Arg)
c.449-5013A>G (n.449-5013A>G)
3g.191375146A>TCA355763850CCDC50c.533A>T (p.Lys178Met)
c.449-5013A>T (n.449-5013A>T)
3g.191375147G>ACA437422132CCDC50c.534G>A (p.Lys178=)
c.449-5012G>A (n.449-5012G>A)
gnomAD v4
3g.191375147G>CCA355763852CCDC50c.534G>C (p.Lys178Asn)
c.449-5012G>C (n.449-5012G>C)
3g.191375147G>TCA355763854CCDC50c.534G>T (p.Lys178Asn)
c.449-5012G>T (n.449-5012G>T)
3g.191375148C>ACA355763860CCDC50c.535C>A (p.His179Asn)
c.449-5011C>A (n.449-5011C>A)
3g.191375148C>GCA355763856CCDC50c.535C>G (p.His179Asp)
c.449-5011C>G (n.449-5011C>G)
3g.191375148C>TCA355763858CCDC50c.535C>T (p.His179Tyr)
c.449-5011C>T (n.449-5011C>T)
3g.191375149A>CCA355763862CCDC50c.536A>C (p.His179Pro)
c.449-5010A>C (n.449-5010A>C)
3g.191375149A>GCA355763864CCDC50c.536A>G (p.His179Arg)
c.449-5010A>G (n.449-5010A>G)
3g.191375149A>TCA355763866CCDC50c.536A>T (p.His179Leu)
c.449-5010A>T (n.449-5010A>T)
gnomAD v4
3g.191375150C>ACA355763868CCDC50c.537C>A (p.His179Gln)
c.449-5009C>A (n.449-5009C>A)
gnomAD v4
3g.191375150C>GCA355763870CCDC50c.537C>G (p.His179Gln)
c.449-5009C>G (n.449-5009C>G)
dbSNP
3g.191375150C>TCA437422134CCDC50c.537C>T (p.His179=)
c.449-5009C>T (n.449-5009C>T)
3g.191375151A>CCA355763872CCDC50c.538A>C (p.Lys180Gln)
c.449-5008A>C (n.449-5008A>C)
gnomAD v4
3g.191375151A>GCA355763875CCDC50c.538A>G (p.Lys180Glu)
c.449-5008A>G (n.449-5008A>G)
gnomAD v4
3g.191375151A>TCA355763877CCDC50c.538A>T (p.Lys180Ter)
c.449-5008A>T (n.449-5008A>T)
3g.191375152A=CA1429222147CCDC50c.539A= (p.Lys180=)
c.449-5007A= (n.449-5007A=)
3g.191375152A>CCA355763879CCDC50c.539A>C (p.Lys180Thr)
c.449-5007A>C (n.449-5007A>C)
3g.191375152A>GCA355763880CCDC50c.539A>G (p.Lys180Arg)
c.449-5007A>G (n.449-5007A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375152A>TCA355763882CCDC50c.539A>T (p.Lys180Met)
c.449-5007A>T (n.449-5007A>T)
3g.191375153G>ACA437422138CCDC50c.540G>A (p.Lys180=)
c.449-5006G>A (n.449-5006G>A)
3g.191375153G>CCA355763884CCDC50c.540G>C (p.Lys180Asn)
c.449-5006G>C (n.449-5006G>C)
3g.191375153G>TCA355763886CCDC50c.540G>T (p.Lys180Asn)
c.449-5006G>T (n.449-5006G>T)
3g.191375154A>CCA355763889CCDC50c.541A>C (p.Lys181Gln)
c.449-5005A>C (n.449-5005A>C)
3g.191375154A>GCA355763891CCDC50c.541A>G (p.Lys181Glu)
c.449-5005A>G (n.449-5005A>G)
3g.191375154A>TCA355763888CCDC50c.541A>T (p.Lys181Ter)
c.449-5005A>T (n.449-5005A>T)
3g.191375155A>CCA355763893CCDC50c.542A>C (p.Lys181Thr)
c.449-5004A>C (n.449-5004A>C)
3g.191375155A>GCA355763894CCDC50c.542A>G (p.Lys181Arg)
c.449-5004A>G (n.449-5004A>G)
3g.191375155A>TCA355763897CCDC50c.542A>T (p.Lys181Ile)
c.449-5004A>T (n.449-5004A>T)
3g.191375155_191375157delinsAAGCA1429222148CCDC50c.542_544delinsAAG (p.Lys181=)
c.449-5004_449-5002delinsAAG (n.449-5004_449-5002delinsAAG)
3g.191375156A=CA1429222149CCDC50c.543A= (p.Lys181=)
c.449-5003A= (n.449-5003A=)
3g.191375156A>CCA355763900CCDC50c.543A>C (p.Lys181Asn)
c.449-5003A>C (n.449-5003A>C)
3g.191375156A>GCA2755278CCDC50c.543A>G (p.Lys181=)
c.449-5003A>G (n.449-5003A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375156A>TCA355763903CCDC50c.543A>T (p.Lys181Asn)
c.449-5003A>T (n.449-5003A>T)
3g.191375159_191375160delCA89778651CCDC50c.546_547del (p.Lys183ThrfsTer25)
c.449-5000_449-4999del (n.449-5000_449-4999del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375157G>ACA355763906CCDC50c.544G>A (p.Glu182Lys)
c.449-5002G>A (n.449-5002G>A)
gnomAD v4
3g.191375157G>CCA355763908CCDC50c.544G>C (p.Glu182Gln)
c.449-5002G>C (n.449-5002G>C)
3g.191375157G>TCA355763910CCDC50c.544G>T (p.Glu182Ter)
c.449-5002G>T (n.449-5002G>T)
3g.191375158A>CCA355763913CCDC50c.545A>C (p.Glu182Ala)
c.449-5001A>C (n.449-5001A>C)
3g.191375158A>GCA355763915CCDC50c.545A>G (p.Glu182Gly)
c.449-5001A>G (n.449-5001A>G)
3g.191375158A>TCA355763917CCDC50c.545A>T (p.Glu182Val)
c.449-5001A>T (n.449-5001A>T)
3g.191375159G>ACA2755280CCDC50c.546G>A (p.Glu182=)
c.449-5000G>A (n.449-5000G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375159G>CCA2755279CCDC50c.546G>C (p.Glu182Asp)
c.449-5000G>C (n.449-5000G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375159G=CA1429222150CCDC50c.546G= (p.Glu182=)
c.449-5000G= (n.449-5000G=)
3g.191375159G>TCA355763919CCDC50c.546G>T (p.Glu182Asp)
c.449-5000G>T (n.449-5000G>T)
3g.191375160A>CCA355763923CCDC50c.547A>C (p.Lys183Gln)
c.449-4999A>C (n.449-4999A>C)
3g.191375160A>GCA355763925CCDC50c.547A>G (p.Lys183Glu)
c.449-4999A>G (n.449-4999A>G)
3g.191375160A>TCA355763927CCDC50c.547A>T (p.Lys183Ter)
c.449-4999A>T (n.449-4999A>T)
3g.191375161A>CCA355763930CCDC50c.548A>C (p.Lys183Thr)
c.449-4998A>C (n.449-4998A>C)
gnomAD v4
3g.191375161A>GCA355763932CCDC50c.548A>G (p.Lys183Arg)
c.449-4998A>G (n.449-4998A>G)
3g.191375161A>TCA355763934CCDC50c.548A>T (p.Lys183Ile)
c.449-4998A>T (n.449-4998A>T)
3g.191375162A>CCA355763937CCDC50c.549A>C (p.Lys183Asn)
c.449-4997A>C (n.449-4997A>C)
3g.191375162A>GCA437422144CCDC50c.549A>G (p.Lys183=)
c.449-4997A>G (n.449-4997A>G)
3g.191375162A>TCA355763939CCDC50c.549A>T (p.Lys183Asn)
c.449-4997A>T (n.449-4997A>T)
3g.191375163C>ACA355763941CCDC50c.550C>A (p.Pro184Thr)
c.449-4996C>A (n.449-4996C>A)
3g.191375163C=CA1429222151CCDC50c.550C= (p.Pro184=)
c.449-4996C= (n.449-4996C=)
3g.191375163C>GCA89778654CCDC50c.550C>G (p.Pro184Ala)
c.449-4996C>G (n.449-4996C>G)
dbSNP
3g.191375163C>TCA355763943CCDC50c.550C>T (p.Pro184Ser)
c.449-4996C>T (n.449-4996C>T)
3g.191375164C>ACA355763946CCDC50c.551C>A (p.Pro184Gln)
c.449-4995C>A (n.449-4995C>A)
3g.191375164C=CA1429222152CCDC50c.551C= (p.Pro184=)
c.449-4995C= (n.449-4995C=)
3g.191375164C>GCA355763948CCDC50c.551C>G (p.Pro184Arg)
c.449-4995C>G (n.449-4995C>G)
3g.191375164C>TCA355763950CCDC50c.551C>T (p.Pro184Leu)
c.449-4995C>T (n.449-4995C>T)
dbSNP gnomAD v3 gnomAD v4
3g.191375165A=CA1429222153CCDC50c.552A= (p.Pro184=)
c.449-4994A= (n.449-4994A=)
3g.191375165A>CCA437422146CCDC50c.552A>C (p.Pro184=)
c.449-4994A>C (n.449-4994A>C)
3g.191375165A>GCA437422147CCDC50c.552A>G (p.Pro184=)
c.449-4994A>G (n.449-4994A>G)
gnomAD v4
3g.191375165A>TCA437422148CCDC50c.552A>T (p.Pro184=)
c.449-4994A>T (n.449-4994A>T)
3g.191375166G>ACA2755281CCDC50c.553G>A (p.Glu185Lys)
c.449-4993G>A (n.449-4993G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375166G>CCA355763955CCDC50c.553G>C (p.Glu185Gln)
c.449-4993G>C (n.449-4993G>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375166G=CA1429222154CCDC50c.553G= (p.Glu185=)
c.449-4993G= (n.449-4993G=)
3g.191375166G>TCA355763952CCDC50c.553G>T (p.Glu185Ter)
c.449-4993G>T (n.449-4993G>T)
3g.191375167_191375177dupCA1429222155CCDC50c.554_564dup (p.Glu189AsnfsTer?)
c.449-4992_449-4982dup (n.449-4992_449-4982dup)
dbSNP
3g.191375167A>CCA355763957CCDC50c.554A>C (p.Glu185Ala)
c.449-4992A>C (n.449-4992A>C)
3g.191375167A>GCA355763959CCDC50c.554A>G (p.Glu185Gly)
c.449-4992A>G (n.449-4992A>G)
3g.191375167A>TCA355763961CCDC50c.554A>T (p.Glu185Val)
c.449-4992A>T (n.449-4992A>T)
3g.191375168A>CCA355763963CCDC50c.555A>C (p.Glu185Asp)
c.449-4991A>C (n.449-4991A>C)
3g.191375168A>GCA437422151CCDC50c.555A>G (p.Glu185=)
c.449-4991A>G (n.449-4991A>G)
3g.191375168A>TCA355763965CCDC50c.555A>T (p.Glu185Asp)
c.449-4991A>T (n.449-4991A>T)
3g.191375169C>ACA355763967CCDC50c.556C>A (p.His186Asn)
c.449-4990C>A (n.449-4990C>A)
3g.191375169C>GCA355763969CCDC50c.556C>G (p.His186Asp)
c.449-4990C>G (n.449-4990C>G)
3g.191375169C>TCA355763971CCDC50c.556C>T (p.His186Tyr)
c.449-4990C>T (n.449-4990C>T)
3g.191375170A=CA1429222156CCDC50c.557A= (p.His186=)
c.449-4989A= (n.449-4989A=)
3g.191375170A>CCA355763974CCDC50c.557A>C (p.His186Pro)
c.449-4989A>C (n.449-4989A>C)
3g.191375170A>GCA355763975CCDC50c.557A>G (p.His186Arg)
c.449-4989A>G (n.449-4989A>G)
dbSNP gnomAD v4
3g.191375170A>TCA355763976CCDC50c.557A>T (p.His186Leu)
c.449-4989A>T (n.449-4989A>T)
3g.191375171T>ACA355763977CCDC50c.558T>A (p.His186Gln)
c.449-4988T>A (n.449-4988T>A)
3g.191375171T>CCA437422155CCDC50c.558T>C (p.His186=)
c.449-4988T>C (n.449-4988T>C)
3g.191375171T>GCA355763979CCDC50c.558T>G (p.His186Gln)
c.449-4988T>G (n.449-4988T>G)
3g.191375172C>ACA355763984CCDC50c.559C>A (p.Pro187Thr)
c.449-4987C>A (n.449-4987C>A)
3g.191375172C>GCA355763981CCDC50c.559C>G (p.Pro187Ala)
c.449-4987C>G (n.449-4987C>G)
3g.191375172C>TCA355763983CCDC50c.559C>T (p.Pro187Ser)
c.449-4987C>T (n.449-4987C>T)
3g.191375173C>ACA355763987CCDC50c.560C>A (p.Pro187Gln)
c.449-4986C>A (n.449-4986C>A)
dbSNP gnomAD v4
3g.191375173C=CA1429222157CCDC50c.560C= (p.Pro187=)
c.449-4986C= (n.449-4986C=)
3g.191375173C>GCA355763989CCDC50c.560C>G (p.Pro187Arg)
c.449-4986C>G (n.449-4986C>G)
3g.191375173C>TCA355763991CCDC50c.560C>T (p.Pro187Leu)
c.449-4986C>T (n.449-4986C>T)
dbSNP gnomAD v2 gnomAD v4
3g.191375174A>CCA437422158CCDC50c.561A>C (p.Pro187=)
c.449-4985A>C (n.449-4985A>C)
3g.191375174A>GCA437422159CCDC50c.561A>G (p.Pro187=)
c.449-4985A>G (n.449-4985A>G)
dbSNP gnomAD v4 COSMIC
3g.191375174A>TCA437422157CCDC50c.561A>T (p.Pro187=)
c.449-4985A>T (n.449-4985A>T)
3g.191375175C>ACA355763993CCDC50c.562C>A (p.Leu188Met)
c.449-4984C>A (n.449-4984C>A)
3g.191375175C=CA1429222158CCDC50c.562C= (p.Leu188=)
c.449-4984C= (n.449-4984C=)
3g.191375175C>GCA355763995CCDC50c.562C>G (p.Leu188Val)
c.449-4984C>G (n.449-4984C>G)
3g.191375175C>TCA437422160CCDC50c.562C>T (p.Leu188=)
c.449-4984C>T (n.449-4984C>T)
3g.191375176T>ACA355763996CCDC50c.563T>A (p.Leu188Gln)
c.449-4983T>A (n.449-4983T>A)
3g.191375176T>CCA355763997CCDC50c.563T>C (p.Leu188Pro)
c.449-4983T>C (n.449-4983T>C)
3g.191375176T>GCA355763998CCDC50c.563T>G (p.Leu188Arg)
c.449-4983T>G (n.449-4983T>G)
3g.191375176dupCA2755282CCDC50c.563dup (p.Glu189GlyfsTer20)
c.449-4983dup (n.449-4983dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375177G>ACA437422164CCDC50c.564G>A (p.Leu188=)
c.449-4982G>A (n.449-4982G>A)
3g.191375177G>CCA437422165CCDC50c.564G>C (p.Leu188=)
c.449-4982G>C (n.449-4982G>C)
3g.191375177G>TCA437422166CCDC50c.564G>T (p.Leu188=)
c.449-4982G>T (n.449-4982G>T)
3g.191375178G>ACA355763999CCDC50c.565G>A (p.Glu189Lys)
c.449-4981G>A (n.449-4981G>A)
3g.191375178G>CCA355764000CCDC50c.565G>C (p.Glu189Gln)
c.449-4981G>C (n.449-4981G>C)
3g.191375178G>TCA355764001CCDC50c.565G>T (p.Glu189Ter)
c.449-4981G>T (n.449-4981G>T)
COSMIC
3g.191375179A>CCA355764002CCDC50c.566A>C (p.Glu189Ala)
c.449-4980A>C (n.449-4980A>C)
3g.191375179A>GCA355764004CCDC50c.566A>G (p.Glu189Gly)
c.449-4980A>G (n.449-4980A>G)
3g.191375179A>TCA355764003CCDC50c.566A>T (p.Glu189Val)
c.449-4980A>T (n.449-4980A>T)
3g.191375180G>ACA437422168CCDC50c.567G>A (p.Glu189=)
c.449-4979G>A (n.449-4979G>A)
3g.191375180G>CCA355764005CCDC50c.567G>C (p.Glu189Asp)
c.449-4979G>C (n.449-4979G>C)
3g.191375180G>TCA355764006CCDC50c.567G>T (p.Glu189Asp)
c.449-4979G>T (n.449-4979G>T)
3g.191375180_191375181delinsGACA1429222159CCDC50c.567_568delinsGA (p.Glu189=)
c.449-4979_449-4978delinsGA (n.449-4979_449-4978delinsGA)
3g.191375181A>CCA355764007CCDC50c.568A>C (p.Asn190His)
c.449-4978A>C (n.449-4978A>C)
3g.191375181A>GCA355764008CCDC50c.568A>G (p.Asn190Asp)
c.449-4978A>G (n.449-4978A>G)
3g.191375181A>TCA355764009CCDC50c.568A>T (p.Asn190Tyr)
c.449-4978A>T (n.449-4978A>T)
3g.191375182delCA917083648CCDC50c.569del (p.Asn190ThrfsTer?)
c.449-4977del (n.449-4977del)
dbSNP gnomAD v4
3g.191375182A=CA1429222160CCDC50c.569A= (p.Asn190=)
c.449-4977A= (n.449-4977A=)
3g.191375182A>CCA355764010CCDC50c.569A>C (p.Asn190Thr)
c.449-4977A>C (n.449-4977A>C)
3g.191375182A>GCA89778657CCDC50c.569A>G (p.Asn190Ser)
c.449-4977A>G (n.449-4977A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375182A>TCA355764011CCDC50c.569A>T (p.Asn190Ile)
c.449-4977A>T (n.449-4977A>T)

Number of alleles fetched