Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.191375082G>A | CA2755267 | CCDC50 | c.469G>A (p.Ala157Thr) c.448+5046G>A (n.448+5046G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375082G>C | CA355763569 | CCDC50 | c.469G>C (p.Ala157Pro) c.448+5046G>C (n.448+5046G>C) | |
3 | g.191375082G= | CA1429222123 | CCDC50 | c.469G= (p.Ala157=) c.448+5046G= (n.448+5046G=) | |
3 | g.191375082G>T | CA355763573 | CCDC50 | c.469G>T (p.Ala157Ser) c.448+5046G>T (n.448+5046G>T) | |
3 | g.191375083C>A | CA355763575 | CCDC50 | c.470C>A (p.Ala157Asp) c.448+5047C>A (n.448+5047C>A) | gnomAD v4 |
3 | g.191375083C>G | CA355763576 | CCDC50 | c.470C>G (p.Ala157Gly) c.448+5047C>G (n.448+5047C>G) | |
3 | g.191375083C>T | CA355763578 | CCDC50 | c.470C>T (p.Ala157Val) c.448+5047C>T (n.448+5047C>T) | gnomAD v4 |
3 | g.191375084C>A | CA437422051 | CCDC50 | c.471C>A (p.Ala157=) c.448+5048C>A (n.448+5048C>A) | dbSNP |
3 | g.191375084C= | CA1429222124 | CCDC50 | c.471C= (p.Ala157=) c.448+5048C= (n.448+5048C=) | |
3 | g.191375084C>G | CA437422053 | CCDC50 | c.471C>G (p.Ala157=) c.448+5048C>G (n.448+5048C>G) | |
3 | g.191375084C>T | CA437422054 | CCDC50 | c.471C>T (p.Ala157=) c.448+5048C>T (n.448+5048C>T) | |
3 | g.191375085A>C | CA437422055 | CCDC50 | c.472A>C (p.Arg158=) c.448+5049A>C (n.448+5049A>C) | |
3 | g.191375085A>G | CA355763580 | CCDC50 | c.472A>G (p.Arg158Gly) c.448+5049A>G (n.448+5049A>G) | gnomAD v4 |
3 | g.191375085A>T | CA355763581 | CCDC50 | c.472A>T (p.Arg158Trp) c.448+5049A>T (n.448+5049A>T) | COSMIC |
3 | g.191375086G>A | CA355763583 | CCDC50 | c.473G>A (p.Arg158Lys) c.448+5050G>A (n.448+5050G>A) | |
3 | g.191375086G>C | CA355763584 | CCDC50 | c.473G>C (p.Arg158Thr) c.448+5050G>C (n.448+5050G>C) | gnomAD v4 |
3 | g.191375086G= | CA1429222125 | CCDC50 | c.473G= (p.Arg158=) c.448+5050G= (n.448+5050G=) | |
3 | g.191375086G>T | CA2755268 | CCDC50 | c.473G>T (p.Arg158Met) c.448+5050G>T (n.448+5050G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375087G>A | CA2755269 | CCDC50 | c.474G>A (p.Arg158=) c.448+5051G>A (n.448+5051G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375087G>C | CA355763586 | CCDC50 | c.474G>C (p.Arg158Ser) c.448+5051G>C (n.448+5051G>C) | gnomAD v4 |
3 | g.191375087G= | CA1429222126 | CCDC50 | c.474G= (p.Arg158=) c.448+5051G= (n.448+5051G=) | |
3 | g.191375087G>T | CA355763587 | CCDC50 | c.474G>T (p.Arg158Ser) c.448+5051G>T (n.448+5051G>T) | |
3 | g.191375088G>A | CA355763591 | CCDC50 | c.475G>A (p.Glu159Lys) c.448+5052G>A (n.448+5052G>A) | |
3 | g.191375088G>C | CA355763592 | CCDC50 | c.475G>C (p.Glu159Gln) c.448+5052G>C (n.448+5052G>C) | |
3 | g.191375088G>T | CA355763594 | CCDC50 | c.475G>T (p.Glu159Ter) c.448+5052G>T (n.448+5052G>T) | |
3 | g.191375089A>C | CA355763596 | CCDC50 | c.476A>C (p.Glu159Ala) c.448+5053A>C (n.448+5053A>C) | |
3 | g.191375089A>G | CA355763598 | CCDC50 | c.476A>G (p.Glu159Gly) c.448+5053A>G (n.448+5053A>G) | |
3 | g.191375089A>T | CA355763600 | CCDC50 | c.476A>T (p.Glu159Val) c.448+5053A>T (n.448+5053A>T) | |
3 | g.191375090A>C | CA355763602 | CCDC50 | c.477A>C (p.Glu159Asp) c.448+5054A>C (n.448+5054A>C) | |
3 | g.191375090A>G | CA437422057 | CCDC50 | c.477A>G (p.Glu159=) c.448+5054A>G (n.448+5054A>G) | |
3 | g.191375090A>T | CA355763604 | CCDC50 | c.477A>T (p.Glu159Asp) c.448+5054A>T (n.448+5054A>T) | |
3 | g.191375091T>A | CA355763606 | CCDC50 | c.478T>A (p.Leu160Met) c.448+5055T>A (n.448+5055T>A) | |
3 | g.191375091T>C | CA437422058 | CCDC50 | c.478T>C (p.Leu160=) c.448+5055T>C (n.448+5055T>C) | |
3 | g.191375091T>G | CA355763607 | CCDC50 | c.478T>G (p.Leu160Val) c.448+5055T>G (n.448+5055T>G) | |
3 | g.191375092T>A | CA355763613 | CCDC50 | c.479T>A (p.Leu160Ter) c.448+5056T>A (n.448+5056T>A) | |
3 | g.191375092T>C | CA355763611 | CCDC50 | c.479T>C (p.Leu160Ser) c.448+5056T>C (n.448+5056T>C) | |
3 | g.191375092T>G | CA355763609 | CCDC50 | c.479T>G (p.Leu160Trp) c.448+5056T>G (n.448+5056T>G) | |
3 | g.191375093G>A | CA437422062 | CCDC50 | c.480G>A (p.Leu160=) c.448+5057G>A (n.448+5057G>A) | gnomAD v4 |
3 | g.191375093G>C | CA355763615 | CCDC50 | c.480G>C (p.Leu160Phe) c.448+5057G>C (n.448+5057G>C) | |
3 | g.191375093G>T | CA355763617 | CCDC50 | c.480G>T (p.Leu160Phe) c.448+5057G>T (n.448+5057G>T) | gnomAD v4 |
3 | g.191375094G>A | CA355763619 | CCDC50 | c.481G>A (p.Gly161Ser) c.448+5058G>A (n.448+5058G>A) | |
3 | g.191375094G>C | CA355763621 | CCDC50 | c.481G>C (p.Gly161Arg) c.448+5058G>C (n.448+5058G>C) | |
3 | g.191375094G>T | CA355763622 | CCDC50 | c.481G>T (p.Gly161Cys) c.448+5058G>T (n.448+5058G>T) | |
3 | g.191375095G>A | CA355763623 | CCDC50 | c.482G>A (p.Gly161Asp) c.448+5059G>A (n.448+5059G>A) | |
3 | g.191375095G>C | CA355763625 | CCDC50 | c.482G>C (p.Gly161Ala) c.448+5059G>C (n.448+5059G>C) | |
3 | g.191375095G>T | CA355763627 | CCDC50 | c.482G>T (p.Gly161Val) c.448+5059G>T (n.448+5059G>T) | |
3 | g.191375096T>A | CA437422066 | CCDC50 | c.483T>A (p.Gly161=) c.448+5060T>A (n.448+5060T>A) | |
3 | g.191375096T>C | CA437422068 | CCDC50 | c.483T>C (p.Gly161=) c.448+5060T>C (n.448+5060T>C) | dbSNP gnomAD v2 |
3 | g.191375096T>G | CA437422067 | CCDC50 | c.483T>G (p.Gly161=) c.448+5060T>G (n.448+5060T>G) | dbSNP |
3 | g.191375096T= | CA1429222127 | CCDC50 | c.483T= (p.Gly161=) c.448+5060T= (n.448+5060T=) | |
3 | g.191375097T>A | CA355763629 | CCDC50 | c.484T>A (p.Ser162Thr) c.449-5062T>A (n.449-5062T>A) | |
3 | g.191375097T>C | CA355763631 | CCDC50 | c.484T>C (p.Ser162Pro) c.449-5062T>C (n.449-5062T>C) | |
3 | g.191375097T>G | CA355763633 | CCDC50 | c.484T>G (p.Ser162Ala) c.449-5062T>G (n.449-5062T>G) | |
3 | g.191375098C>A | CA355763635 | CCDC50 | c.485C>A (p.Ser162Tyr) c.449-5061C>A (n.449-5061C>A) | |
3 | g.191375098C>G | CA355763637 | CCDC50 | c.485C>G (p.Ser162Cys) c.449-5061C>G (n.449-5061C>G) | |
3 | g.191375098C>T | CA355763639 | CCDC50 | c.485C>T (p.Ser162Phe) c.449-5061C>T (n.449-5061C>T) | |
3 | g.191375099T>A | CA437422072 | CCDC50 | c.486T>A (p.Ser162=) c.449-5060T>A (n.449-5060T>A) | |
3 | g.191375099T>C | CA437422073 | CCDC50 | c.486T>C (p.Ser162=) c.449-5060T>C (n.449-5060T>C) | gnomAD v4 |
3 | g.191375099T>G | CA89778641 | CCDC50 | c.486T>G (p.Ser162=) c.449-5060T>G (n.449-5060T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375099T= | CA1429222128 | CCDC50 | c.486T= (p.Ser162=) c.449-5060T= (n.449-5060T=) | |
3 | g.191375100G>A | CA2755270 | CCDC50 | c.487G>A (p.Gly163Arg) c.449-5059G>A (n.449-5059G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375100G>C | CA355763642 | CCDC50 | c.487G>C (p.Gly163Arg) c.449-5059G>C (n.449-5059G>C) | |
3 | g.191375100G= | CA1429222129 | CCDC50 | c.487G= (p.Gly163=) c.449-5059G= (n.449-5059G=) | |
3 | g.191375100G>T | CA355763644 | CCDC50 | c.487G>T (p.Gly163Ter) c.449-5059G>T (n.449-5059G>T) | |
3 | g.191375101G>A | CA355763646 | CCDC50 | c.488G>A (p.Gly163Glu) c.449-5058G>A (n.449-5058G>A) | |
3 | g.191375101G>C | CA355763650 | CCDC50 | c.488G>C (p.Gly163Ala) c.449-5058G>C (n.449-5058G>C) | |
3 | g.191375101G>T | CA355763648 | CCDC50 | c.488G>T (p.Gly163Val) c.449-5058G>T (n.449-5058G>T) | |
3 | g.191375102A>C | CA437422075 | CCDC50 | c.489A>C (p.Gly163=) c.449-5057A>C (n.449-5057A>C) | |
3 | g.191375102A>G | CA437422076 | CCDC50 | c.489A>G (p.Gly163=) c.449-5057A>G (n.449-5057A>G) | |
3 | g.191375102A>T | CA437422077 | CCDC50 | c.489A>T (p.Gly163=) c.449-5057A>T (n.449-5057A>T) | gnomAD v4 |
3 | g.191375103T>A | CA355763652 | CCDC50 | c.490T>A (p.Phe164Ile) c.449-5056T>A (n.449-5056T>A) | |
3 | g.191375103T>C | CA355763656 | CCDC50 | c.490T>C (p.Phe164Leu) c.449-5056T>C (n.449-5056T>C) | |
3 | g.191375103T>G | CA355763654 | CCDC50 | c.490T>G (p.Phe164Val) c.449-5056T>G (n.449-5056T>G) | |
3 | g.191375104T>A | CA355763657 | CCDC50 | c.491T>A (p.Phe164Tyr) c.449-5055T>A (n.449-5055T>A) | |
3 | g.191375104T>C | CA355763658 | CCDC50 | c.491T>C (p.Phe164Ser) c.449-5055T>C (n.449-5055T>C) | |
3 | g.191375104T>G | CA355763660 | CCDC50 | c.491T>G (p.Phe164Cys) c.449-5055T>G (n.449-5055T>G) | |
3 | g.191375105C>A | CA355763661 | CCDC50 | c.492C>A (p.Phe164Leu) c.449-5054C>A (n.449-5054C>A) | |
3 | g.191375105C>G | CA355763663 | CCDC50 | c.492C>G (p.Phe164Leu) c.449-5054C>G (n.449-5054C>G) | |
3 | g.191375105C>T | CA437422081 | CCDC50 | c.492C>T (p.Phe164=) c.449-5054C>T (n.449-5054C>T) | gnomAD v4 |
3 | g.191375106T>A | CA355763666 | CCDC50 | c.493T>A (p.Ser165Thr) c.449-5053T>A (n.449-5053T>A) | |
3 | g.191375106T>C | CA355763667 | CCDC50 | c.493T>C (p.Ser165Pro) c.449-5053T>C (n.449-5053T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375106T>G | CA355763669 | CCDC50 | c.493T>G (p.Ser165Ala) c.449-5053T>G (n.449-5053T>G) | |
3 | g.191375106T= | CA1429222130 | CCDC50 | c.493T= (p.Ser165=) c.449-5053T= (n.449-5053T=) | |
3 | g.191375107C>A | CA355763672 | CCDC50 | c.494C>A (p.Ser165Ter) c.449-5052C>A (n.449-5052C>A) | |
3 | g.191375107C= | CA1429222131 | CCDC50 | c.494C= (p.Ser165=) c.449-5052C= (n.449-5052C=) | |
3 | g.191375107C>G | CA355763673 | CCDC50 | c.494C>G (p.Ser165Ter) c.449-5052C>G (n.449-5052C>G) | dbSNP |
3 | g.191375107C>T | CA89778643 | CCDC50 | c.494C>T (p.Ser165Leu) c.449-5052C>T (n.449-5052C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375108A= | CA1429222132 | CCDC50 | c.495A= (p.Ser165=) c.449-5051A= (n.449-5051A=) | |
3 | g.191375108A>C | CA437422085 | CCDC50 | c.495A>C (p.Ser165=) c.449-5051A>C (n.449-5051A>C) | |
3 | g.191375108A>G | CA437422086 | CCDC50 | c.495A>G (p.Ser165=) c.449-5051A>G (n.449-5051A>G) | |
3 | g.191375108A>T | CA437422087 | CCDC50 | c.495A>T (p.Ser165=) c.449-5051A>T (n.449-5051A>T) | |
3 | g.191375108_191375109insT | CA2755271 | CCDC50 | c.495_496insT (p.Arg166Ter) c.449-5051_449-5050insT (n.449-5051_449-5050insT) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375109A>C | CA437422088 | CCDC50 | c.496A>C (p.Arg166=) c.449-5050A>C (n.449-5050A>C) | |
3 | g.191375109A>G | CA355763679 | CCDC50 | c.496A>G (p.Arg166Gly) c.449-5050A>G (n.449-5050A>G) | |
3 | g.191375109A>T | CA355763677 | CCDC50 | c.496A>T (p.Arg166Ter) c.449-5050A>T (n.449-5050A>T) | |
3 | g.191375110G>A | CA355763682 | CCDC50 | c.497G>A (p.Arg166Lys) c.449-5049G>A (n.449-5049G>A) | |
3 | g.191375110G>C | CA355763683 | CCDC50 | c.497G>C (p.Arg166Thr) c.449-5049G>C (n.449-5049G>C) | gnomAD v4 |
3 | g.191375110G= | CA1429222133 | CCDC50 | c.497G= (p.Arg166=) c.449-5049G= (n.449-5049G=) | |
3 | g.191375110G>T | CA355763684 | CCDC50 | c.497G>T (p.Arg166Ile) c.449-5049G>T (n.449-5049G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.191375111A>C | CA355763686 | CCDC50 | c.498A>C (p.Arg166Ser) c.449-5048A>C (n.449-5048A>C) | |
3 | g.191375111A>G | CA437422090 | CCDC50 | c.498A>G (p.Arg166=) c.449-5048A>G (n.449-5048A>G) | |
3 | g.191375111A>T | CA355763688 | CCDC50 | c.498A>T (p.Arg166Ser) c.449-5048A>T (n.449-5048A>T) | |
3 | g.191375112C>A | CA355763690 | CCDC50 | c.499C>A (p.Pro167Thr) c.449-5047C>A (n.449-5047C>A) | |
3 | g.191375112C= | CA1429222134 | CCDC50 | c.499C= (p.Pro167=) c.449-5047C= (n.449-5047C=) | |
3 | g.191375112C>G | CA355763692 | CCDC50 | c.499C>G (p.Pro167Ala) c.449-5047C>G (n.449-5047C>G) | dbSNP gnomAD v4 |
3 | g.191375112C>T | CA355763694 | CCDC50 | c.499C>T (p.Pro167Ser) c.449-5047C>T (n.449-5047C>T) | |
3 | g.191375113C>A | CA355763696 | CCDC50 | c.500C>A (p.Pro167His) c.449-5046C>A (n.449-5046C>A) | |
3 | g.191375113C= | CA1429222135 | CCDC50 | c.500C= (p.Pro167=) c.449-5046C= (n.449-5046C=) | |
3 | g.191375113C>G | CA355763698 | CCDC50 | c.500C>G (p.Pro167Arg) c.449-5046C>G (n.449-5046C>G) | |
3 | g.191375113C>T | CA2755272 | CCDC50 | c.500C>T (p.Pro167Leu) c.449-5046C>T (n.449-5046C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.191375114T>A | CA437422093 | CCDC50 | c.501T>A (p.Pro167=) c.449-5045T>A (n.449-5045T>A) | |
3 | g.191375114T>C | CA437422095 | CCDC50 | c.501T>C (p.Pro167=) c.449-5045T>C (n.449-5045T>C) | |
3 | g.191375114T>G | CA437422094 | CCDC50 | c.501T>G (p.Pro167=) c.449-5045T>G (n.449-5045T>G) | |
3 | g.191375115T>A | CA355763705 | CCDC50 | c.502T>A (p.Cys168Ser) c.449-5044T>A (n.449-5044T>A) | |
3 | g.191375115T>C | CA355763704 | CCDC50 | c.502T>C (p.Cys168Arg) c.449-5044T>C (n.449-5044T>C) | |
3 | g.191375115T>G | CA355763701 | CCDC50 | c.502T>G (p.Cys168Gly) c.449-5044T>G (n.449-5044T>G) | |
3 | g.191375116G>A | CA2755273 | CCDC50 | c.503G>A (p.Cys168Tyr) c.449-5043G>A (n.449-5043G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375116G>C | CA355763708 | CCDC50 | c.503G>C (p.Cys168Ser) c.449-5043G>C (n.449-5043G>C) | |
3 | g.191375116G= | CA1429222136 | CCDC50 | c.503G= (p.Cys168=) c.449-5043G= (n.449-5043G=) | |
3 | g.191375116G>T | CA355763710 | CCDC50 | c.503G>T (p.Cys168Phe) c.449-5043G>T (n.449-5043G>T) | |
3 | g.191375117T>A | CA355763712 | CCDC50 | c.504T>A (p.Cys168Ter) c.449-5042T>A (n.449-5042T>A) | |
3 | g.191375117T>C | CA437422097 | CCDC50 | c.504T>C (p.Cys168=) c.449-5042T>C (n.449-5042T>C) | |
3 | g.191375117T>G | CA355763714 | CCDC50 | c.504T>G (p.Cys168Trp) c.449-5042T>G (n.449-5042T>G) | gnomAD v4 |
3 | g.191375118A>C | CA437422098 | CCDC50 | c.505A>C (p.Arg169=) c.449-5041A>C (n.449-5041A>C) | |
3 | g.191375118A>G | CA355763716 | CCDC50 | c.505A>G (p.Arg169Gly) c.449-5041A>G (n.449-5041A>G) | gnomAD v4 |
3 | g.191375118A>T | CA355763718 | CCDC50 | c.505A>T (p.Arg169Ter) c.449-5041A>T (n.449-5041A>T) | |
3 | g.191375119G>A | CA355763721 | CCDC50 | c.506G>A (p.Arg169Lys) c.449-5040G>A (n.449-5040G>A) | |
3 | g.191375119G>C | CA355763722 | CCDC50 | c.506G>C (p.Arg169Thr) c.449-5040G>C (n.449-5040G>C) | |
3 | g.191375119G>T | CA355763724 | CCDC50 | c.506G>T (p.Arg169Ile) c.449-5040G>T (n.449-5040G>T) | |
3 | g.191375120A>C | CA355763726 | CCDC50 | c.507A>C (p.Arg169Ser) c.449-5039A>C (n.449-5039A>C) | |
3 | g.191375120A>G | CA437422099 | CCDC50 | c.507A>G (p.Arg169=) c.449-5039A>G (n.449-5039A>G) | gnomAD v4 |
3 | g.191375120A>T | CA355763728 | CCDC50 | c.507A>T (p.Arg169Ser) c.449-5039A>T (n.449-5039A>T) | gnomAD v4 |
3 | g.191375121C>A | CA355763734 | CCDC50 | c.508C>A (p.Leu170Ile) c.449-5038C>A (n.449-5038C>A) | |
3 | g.191375121C>G | CA355763732 | CCDC50 | c.508C>G (p.Leu170Val) c.449-5038C>G (n.449-5038C>G) | |
3 | g.191375121C>T | CA355763730 | CCDC50 | c.508C>T (p.Leu170Phe) c.449-5038C>T (n.449-5038C>T) | gnomAD v4 |
3 | g.191375122T>A | CA355763736 | CCDC50 | c.509T>A (p.Leu170His) c.449-5037T>A (n.449-5037T>A) | |
3 | g.191375122T>C | CA2755274 | CCDC50 | c.509T>C (p.Leu170Pro) c.449-5037T>C (n.449-5037T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375122T>G | CA355763739 | CCDC50 | c.509T>G (p.Leu170Arg) c.449-5037T>G (n.449-5037T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375122T= | CA1429222137 | CCDC50 | c.509T= (p.Leu170=) c.449-5037T= (n.449-5037T=) | |
3 | g.191375123C>A | CA437422107 | CCDC50 | c.510C>A (p.Leu170=) c.449-5036C>A (n.449-5036C>A) | |
3 | g.191375123C>G | CA437422108 | CCDC50 | c.510C>G (p.Leu170=) c.449-5036C>G (n.449-5036C>G) | |
3 | g.191375123C>T | CA437422104 | CCDC50 | c.510C>T (p.Leu170=) c.449-5036C>T (n.449-5036C>T) | gnomAD v4 |
3 | g.191375124C>A | CA355763741 | CCDC50 | c.511C>A (p.Gln171Lys) c.449-5035C>A (n.449-5035C>A) | |
3 | g.191375124C>G | CA355763743 | CCDC50 | c.511C>G (p.Gln171Glu) c.449-5035C>G (n.449-5035C>G) | |
3 | g.191375124C>T | CA355763745 | CCDC50 | c.511C>T (p.Gln171Ter) c.449-5035C>T (n.449-5035C>T) | gnomAD v4 |
3 | g.191375125A>C | CA355763747 | CCDC50 | c.512A>C (p.Gln171Pro) c.449-5034A>C (n.449-5034A>C) | |
3 | g.191375125A>G | CA355763749 | CCDC50 | c.512A>G (p.Gln171Arg) c.449-5034A>G (n.449-5034A>G) | |
3 | g.191375125A>T | CA355763751 | CCDC50 | c.512A>T (p.Gln171Leu) c.449-5034A>T (n.449-5034A>T) | |
3 | g.191375126A= | CA1429222138 | CCDC50 | c.513A= (p.Gln171=) c.449-5033A= (n.449-5033A=) | |
3 | g.191375126A>C | CA355763753 | CCDC50 | c.513A>C (p.Gln171His) c.449-5033A>C (n.449-5033A>C) | |
3 | g.191375126A>G | CA437422110 | CCDC50 | c.513A>G (p.Gln171=) c.449-5033A>G (n.449-5033A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375126A>T | CA355763755 | CCDC50 | c.513A>T (p.Gln171His) c.449-5033A>T (n.449-5033A>T) | |
3 | g.191375127A>C | CA437422111 | CCDC50 | c.514A>C (p.Arg172=) c.449-5032A>C (n.449-5032A>C) | |
3 | g.191375127A>G | CA355763756 | CCDC50 | c.514A>G (p.Arg172Gly) c.449-5032A>G (n.449-5032A>G) | |
3 | g.191375127A>T | CA355763758 | CCDC50 | c.514A>T (p.Arg172Ter) c.449-5032A>T (n.449-5032A>T) | |
3 | g.191375128G>A | CA355763764 | CCDC50 | c.515G>A (p.Arg172Lys) c.449-5031G>A (n.449-5031G>A) | |
3 | g.191375128G>C | CA355763762 | CCDC50 | c.515G>C (p.Arg172Thr) c.449-5031G>C (n.449-5031G>C) | |
3 | g.191375128G>T | CA355763760 | CCDC50 | c.515G>T (p.Arg172Ile) c.449-5031G>T (n.449-5031G>T) | |
3 | g.191375129A= | CA1429222139 | CCDC50 | c.516A= (p.Arg172=) c.449-5030A= (n.449-5030A=) | |
3 | g.191375129A>C | CA355763769 | CCDC50 | c.516A>C (p.Arg172Ser) c.449-5030A>C (n.449-5030A>C) | |
3 | g.191375129A>G | CA437422113 | CCDC50 | c.516A>G (p.Arg172=) c.449-5030A>G (n.449-5030A>G) | dbSNP gnomAD v4 |
3 | g.191375129A>T | CA355763767 | CCDC50 | c.516A>T (p.Arg172Ser) c.449-5030A>T (n.449-5030A>T) | |
3 | g.191375130G>A | CA355763775 | CCDC50 | c.517G>A (p.Asp173Asn) c.449-5029G>A (n.449-5029G>A) | |
3 | g.191375130G>C | CA355763771 | CCDC50 | c.517G>C (p.Asp173His) c.449-5029G>C (n.449-5029G>C) | |
3 | g.191375130G>T | CA355763773 | CCDC50 | c.517G>T (p.Asp173Tyr) c.449-5029G>T (n.449-5029G>T) | |
3 | g.191375131A>C | CA355763777 | CCDC50 | c.518A>C (p.Asp173Ala) c.449-5028A>C (n.449-5028A>C) | |
3 | g.191375131A>G | CA355763779 | CCDC50 | c.518A>G (p.Asp173Gly) c.449-5028A>G (n.449-5028A>G) | gnomAD v4 |
3 | g.191375131A>T | CA355763782 | CCDC50 | c.518A>T (p.Asp173Val) c.449-5028A>T (n.449-5028A>T) | |
3 | g.191375132T>A | CA355763785 | CCDC50 | c.519T>A (p.Asp173Glu) c.449-5027T>A (n.449-5027T>A) | |
3 | g.191375132T>C | CA437422115 | CCDC50 | c.519T>C (p.Asp173=) c.449-5027T>C (n.449-5027T>C) | gnomAD v4 |
3 | g.191375132T>G | CA355763786 | CCDC50 | c.519T>G (p.Asp173Glu) c.449-5027T>G (n.449-5027T>G) | |
3 | g.191375132T= | CA1429222140 | CCDC50 | c.519T= (p.Asp173=) c.449-5027T= (n.449-5027T=) | |
3 | g.191375133G>A | CA355763793 | CCDC50 | c.520G>A (p.Gly174Arg) c.449-5026G>A (n.449-5026G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375133G>C | CA355763791 | CCDC50 | c.520G>C (p.Gly174Arg) c.449-5026G>C (n.449-5026G>C) | |
3 | g.191375133G= | CA1429222141 | CCDC50 | c.520G= (p.Gly174=) c.449-5026G= (n.449-5026G=) | |
3 | g.191375133G>T | CA355763789 | CCDC50 | c.520G>T (p.Gly174Ter) c.449-5026G>T (n.449-5026G>T) | |
3 | g.191375133_191375134dup | CA2755275 | CCDC50 | c.520_521dup (p.Lys175GlufsTer4) c.449-5026_449-5025dup (n.449-5026_449-5025dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375134G>A | CA355763796 | CCDC50 | c.521G>A (p.Gly174Glu) c.449-5025G>A (n.449-5025G>A) | |
3 | g.191375134G>C | CA355763798 | CCDC50 | c.521G>C (p.Gly174Ala) c.449-5025G>C (n.449-5025G>C) | |
3 | g.191375134G>T | CA355763799 | CCDC50 | c.521G>T (p.Gly174Val) c.449-5025G>T (n.449-5025G>T) | |
3 | g.191375135A>C | CA437422117 | CCDC50 | c.522A>C (p.Gly174=) c.449-5024A>C (n.449-5024A>C) | |
3 | g.191375135A>G | CA437422118 | CCDC50 | c.522A>G (p.Gly174=) c.449-5024A>G (n.449-5024A>G) | |
3 | g.191375135A>T | CA437422119 | CCDC50 | c.522A>T (p.Gly174=) c.449-5024A>T (n.449-5024A>T) | |
3 | g.191375136A>C | CA355763801 | CCDC50 | c.523A>C (p.Lys175Gln) c.449-5023A>C (n.449-5023A>C) | |
3 | g.191375136A>G | CA355763805 | CCDC50 | c.523A>G (p.Lys175Glu) c.449-5023A>G (n.449-5023A>G) | |
3 | g.191375136A>T | CA355763803 | CCDC50 | c.523A>T (p.Lys175Ter) c.449-5023A>T (n.449-5023A>T) | |
3 | g.191375137A= | CA1429222142 | CCDC50 | c.524A= (p.Lys175=) c.449-5022A= (n.449-5022A=) | |
3 | g.191375137A>C | CA355763808 | CCDC50 | c.524A>C (p.Lys175Thr) c.449-5022A>C (n.449-5022A>C) | |
3 | g.191375137A>G | CA89778647 | CCDC50 | c.524A>G (p.Lys175Arg) c.449-5022A>G (n.449-5022A>G) | dbSNP |
3 | g.191375137A>T | CA355763811 | CCDC50 | c.524A>T (p.Lys175Met) c.449-5022A>T (n.449-5022A>T) | |
3 | g.191375138G>A | CA2755276 | CCDC50 | c.525G>A (p.Lys175=) c.449-5021G>A (n.449-5021G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375138G>C | CA355763814 | CCDC50 | c.525G>C (p.Lys175Asn) c.449-5021G>C (n.449-5021G>C) | |
3 | g.191375138G= | CA1429222143 | CCDC50 | c.525G= (p.Lys175=) c.449-5021G= (n.449-5021G=) | |
3 | g.191375138G>T | CA355763816 | CCDC50 | c.525G>T (p.Lys175Asn) c.449-5021G>T (n.449-5021G>T) | dbSNP gnomAD v4 |
3 | g.191375139A>C | CA355763819 | CCDC50 | c.526A>C (p.Thr176Pro) c.449-5020A>C (n.449-5020A>C) | |
3 | g.191375139A>G | CA355763820 | CCDC50 | c.526A>G (p.Thr176Ala) c.449-5020A>G (n.449-5020A>G) | |
3 | g.191375139A>T | CA355763822 | CCDC50 | c.526A>T (p.Thr176Ser) c.449-5020A>T (n.449-5020A>T) | |
3 | g.191375140C>A | CA355763825 | CCDC50 | c.527C>A (p.Thr176Asn) c.449-5019C>A (n.449-5019C>A) | |
3 | g.191375140C>G | CA355763827 | CCDC50 | c.527C>G (p.Thr176Ser) c.449-5019C>G (n.449-5019C>G) | |
3 | g.191375140C>T | CA355763829 | CCDC50 | c.527C>T (p.Thr176Ile) c.449-5019C>T (n.449-5019C>T) | gnomAD v4 |
3 | g.191375140_191375142delinsCTG | CA1429222144 | CCDC50 | c.527_529delinsCTG (p.Thr176=) c.449-5019_449-5017delinsCTG (n.449-5019_449-5017delinsCTG) | |
3 | g.191375141T>A | CA437422124 | CCDC50 | c.528T>A (p.Thr176=) c.449-5018T>A (n.449-5018T>A) | |
3 | g.191375141T>C | CA437422125 | CCDC50 | c.528T>C (p.Thr176=) c.449-5018T>C (n.449-5018T>C) | gnomAD v4 |
3 | g.191375141T>G | CA437422126 | CCDC50 | c.528T>G (p.Thr176=) c.449-5018T>G (n.449-5018T>G) | |
3 | g.191375143_191375144del | CA2755277 | CCDC50 | c.530_531del (p.Val177GlufsTer?) c.449-5016_449-5015del (n.449-5016_449-5015del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375142G>A | CA355763835 | CCDC50 | c.529G>A (p.Val177Met) c.449-5017G>A (n.449-5017G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375142G>C | CA355763832 | CCDC50 | c.529G>C (p.Val177Leu) c.449-5017G>C (n.449-5017G>C) | |
3 | g.191375142G= | CA1429222145 | CCDC50 | c.529G= (p.Val177=) c.449-5017G= (n.449-5017G=) | |
3 | g.191375142G>T | CA355763833 | CCDC50 | c.529G>T (p.Val177Leu) c.449-5017G>T (n.449-5017G>T) | |
3 | g.191375143T>A | CA355763838 | CCDC50 | c.530T>A (p.Val177Glu) c.449-5016T>A (n.449-5016T>A) | |
3 | g.191375143T>C | CA355763839 | CCDC50 | c.530T>C (p.Val177Ala) c.449-5016T>C (n.449-5016T>C) | |
3 | g.191375143T>G | CA355763841 | CCDC50 | c.530T>G (p.Val177Gly) c.449-5016T>G (n.449-5016T>G) | |
3 | g.191375144G>A | CA437422129 | CCDC50 | c.531G>A (p.Val177=) c.449-5015G>A (n.449-5015G>A) | |
3 | g.191375144G>C | CA437422130 | CCDC50 | c.531G>C (p.Val177=) c.449-5015G>C (n.449-5015G>C) | dbSNP |
3 | g.191375144G= | CA1429222146 | CCDC50 | c.531G= (p.Val177=) c.449-5015G= (n.449-5015G=) | |
3 | g.191375144G>T | CA437422131 | CCDC50 | c.531G>T (p.Val177=) c.449-5015G>T (n.449-5015G>T) | |
3 | g.191375145A>C | CA355763843 | CCDC50 | c.532A>C (p.Lys178Gln) c.449-5014A>C (n.449-5014A>C) | |
3 | g.191375145A>G | CA355763845 | CCDC50 | c.532A>G (p.Lys178Glu) c.449-5014A>G (n.449-5014A>G) | |
3 | g.191375145A>T | CA355763846 | CCDC50 | c.532A>T (p.Lys178Ter) c.449-5014A>T (n.449-5014A>T) | |
3 | g.191375146A>C | CA355763847 | CCDC50 | c.533A>C (p.Lys178Thr) c.449-5013A>C (n.449-5013A>C) | |
3 | g.191375146A>G | CA355763848 | CCDC50 | c.533A>G (p.Lys178Arg) c.449-5013A>G (n.449-5013A>G) | |
3 | g.191375146A>T | CA355763850 | CCDC50 | c.533A>T (p.Lys178Met) c.449-5013A>T (n.449-5013A>T) | |
3 | g.191375147G>A | CA437422132 | CCDC50 | c.534G>A (p.Lys178=) c.449-5012G>A (n.449-5012G>A) | gnomAD v4 |
3 | g.191375147G>C | CA355763852 | CCDC50 | c.534G>C (p.Lys178Asn) c.449-5012G>C (n.449-5012G>C) | |
3 | g.191375147G>T | CA355763854 | CCDC50 | c.534G>T (p.Lys178Asn) c.449-5012G>T (n.449-5012G>T) | |
3 | g.191375148C>A | CA355763860 | CCDC50 | c.535C>A (p.His179Asn) c.449-5011C>A (n.449-5011C>A) | |
3 | g.191375148C>G | CA355763856 | CCDC50 | c.535C>G (p.His179Asp) c.449-5011C>G (n.449-5011C>G) | |
3 | g.191375148C>T | CA355763858 | CCDC50 | c.535C>T (p.His179Tyr) c.449-5011C>T (n.449-5011C>T) | |
3 | g.191375149A>C | CA355763862 | CCDC50 | c.536A>C (p.His179Pro) c.449-5010A>C (n.449-5010A>C) | |
3 | g.191375149A>G | CA355763864 | CCDC50 | c.536A>G (p.His179Arg) c.449-5010A>G (n.449-5010A>G) | |
3 | g.191375149A>T | CA355763866 | CCDC50 | c.536A>T (p.His179Leu) c.449-5010A>T (n.449-5010A>T) | gnomAD v4 |
3 | g.191375150C>A | CA355763868 | CCDC50 | c.537C>A (p.His179Gln) c.449-5009C>A (n.449-5009C>A) | gnomAD v4 |
3 | g.191375150C>G | CA355763870 | CCDC50 | c.537C>G (p.His179Gln) c.449-5009C>G (n.449-5009C>G) | dbSNP |
3 | g.191375150C>T | CA437422134 | CCDC50 | c.537C>T (p.His179=) c.449-5009C>T (n.449-5009C>T) | |
3 | g.191375151A>C | CA355763872 | CCDC50 | c.538A>C (p.Lys180Gln) c.449-5008A>C (n.449-5008A>C) | gnomAD v4 |
3 | g.191375151A>G | CA355763875 | CCDC50 | c.538A>G (p.Lys180Glu) c.449-5008A>G (n.449-5008A>G) | gnomAD v4 |
3 | g.191375151A>T | CA355763877 | CCDC50 | c.538A>T (p.Lys180Ter) c.449-5008A>T (n.449-5008A>T) | |
3 | g.191375152A= | CA1429222147 | CCDC50 | c.539A= (p.Lys180=) c.449-5007A= (n.449-5007A=) | |
3 | g.191375152A>C | CA355763879 | CCDC50 | c.539A>C (p.Lys180Thr) c.449-5007A>C (n.449-5007A>C) | |
3 | g.191375152A>G | CA355763880 | CCDC50 | c.539A>G (p.Lys180Arg) c.449-5007A>G (n.449-5007A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375152A>T | CA355763882 | CCDC50 | c.539A>T (p.Lys180Met) c.449-5007A>T (n.449-5007A>T) | |
3 | g.191375153G>A | CA437422138 | CCDC50 | c.540G>A (p.Lys180=) c.449-5006G>A (n.449-5006G>A) | |
3 | g.191375153G>C | CA355763884 | CCDC50 | c.540G>C (p.Lys180Asn) c.449-5006G>C (n.449-5006G>C) | |
3 | g.191375153G>T | CA355763886 | CCDC50 | c.540G>T (p.Lys180Asn) c.449-5006G>T (n.449-5006G>T) | |
3 | g.191375154A>C | CA355763889 | CCDC50 | c.541A>C (p.Lys181Gln) c.449-5005A>C (n.449-5005A>C) | |
3 | g.191375154A>G | CA355763891 | CCDC50 | c.541A>G (p.Lys181Glu) c.449-5005A>G (n.449-5005A>G) | |
3 | g.191375154A>T | CA355763888 | CCDC50 | c.541A>T (p.Lys181Ter) c.449-5005A>T (n.449-5005A>T) | |
3 | g.191375155A>C | CA355763893 | CCDC50 | c.542A>C (p.Lys181Thr) c.449-5004A>C (n.449-5004A>C) | |
3 | g.191375155A>G | CA355763894 | CCDC50 | c.542A>G (p.Lys181Arg) c.449-5004A>G (n.449-5004A>G) | |
3 | g.191375155A>T | CA355763897 | CCDC50 | c.542A>T (p.Lys181Ile) c.449-5004A>T (n.449-5004A>T) | |
3 | g.191375155_191375157delinsAAG | CA1429222148 | CCDC50 | c.542_544delinsAAG (p.Lys181=) c.449-5004_449-5002delinsAAG (n.449-5004_449-5002delinsAAG) | |
3 | g.191375156A= | CA1429222149 | CCDC50 | c.543A= (p.Lys181=) c.449-5003A= (n.449-5003A=) | |
3 | g.191375156A>C | CA355763900 | CCDC50 | c.543A>C (p.Lys181Asn) c.449-5003A>C (n.449-5003A>C) | |
3 | g.191375156A>G | CA2755278 | CCDC50 | c.543A>G (p.Lys181=) c.449-5003A>G (n.449-5003A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375156A>T | CA355763903 | CCDC50 | c.543A>T (p.Lys181Asn) c.449-5003A>T (n.449-5003A>T) | |
3 | g.191375159_191375160del | CA89778651 | CCDC50 | c.546_547del (p.Lys183ThrfsTer25) c.449-5000_449-4999del (n.449-5000_449-4999del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375157G>A | CA355763906 | CCDC50 | c.544G>A (p.Glu182Lys) c.449-5002G>A (n.449-5002G>A) | gnomAD v4 |
3 | g.191375157G>C | CA355763908 | CCDC50 | c.544G>C (p.Glu182Gln) c.449-5002G>C (n.449-5002G>C) | |
3 | g.191375157G>T | CA355763910 | CCDC50 | c.544G>T (p.Glu182Ter) c.449-5002G>T (n.449-5002G>T) | |
3 | g.191375158A>C | CA355763913 | CCDC50 | c.545A>C (p.Glu182Ala) c.449-5001A>C (n.449-5001A>C) | |
3 | g.191375158A>G | CA355763915 | CCDC50 | c.545A>G (p.Glu182Gly) c.449-5001A>G (n.449-5001A>G) | |
3 | g.191375158A>T | CA355763917 | CCDC50 | c.545A>T (p.Glu182Val) c.449-5001A>T (n.449-5001A>T) | |
3 | g.191375159G>A | CA2755280 | CCDC50 | c.546G>A (p.Glu182=) c.449-5000G>A (n.449-5000G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375159G>C | CA2755279 | CCDC50 | c.546G>C (p.Glu182Asp) c.449-5000G>C (n.449-5000G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375159G= | CA1429222150 | CCDC50 | c.546G= (p.Glu182=) c.449-5000G= (n.449-5000G=) | |
3 | g.191375159G>T | CA355763919 | CCDC50 | c.546G>T (p.Glu182Asp) c.449-5000G>T (n.449-5000G>T) | |
3 | g.191375160A>C | CA355763923 | CCDC50 | c.547A>C (p.Lys183Gln) c.449-4999A>C (n.449-4999A>C) | |
3 | g.191375160A>G | CA355763925 | CCDC50 | c.547A>G (p.Lys183Glu) c.449-4999A>G (n.449-4999A>G) | |
3 | g.191375160A>T | CA355763927 | CCDC50 | c.547A>T (p.Lys183Ter) c.449-4999A>T (n.449-4999A>T) | |
3 | g.191375161A>C | CA355763930 | CCDC50 | c.548A>C (p.Lys183Thr) c.449-4998A>C (n.449-4998A>C) | gnomAD v4 |
3 | g.191375161A>G | CA355763932 | CCDC50 | c.548A>G (p.Lys183Arg) c.449-4998A>G (n.449-4998A>G) | |
3 | g.191375161A>T | CA355763934 | CCDC50 | c.548A>T (p.Lys183Ile) c.449-4998A>T (n.449-4998A>T) | |
3 | g.191375162A>C | CA355763937 | CCDC50 | c.549A>C (p.Lys183Asn) c.449-4997A>C (n.449-4997A>C) | |
3 | g.191375162A>G | CA437422144 | CCDC50 | c.549A>G (p.Lys183=) c.449-4997A>G (n.449-4997A>G) | |
3 | g.191375162A>T | CA355763939 | CCDC50 | c.549A>T (p.Lys183Asn) c.449-4997A>T (n.449-4997A>T) | |
3 | g.191375163C>A | CA355763941 | CCDC50 | c.550C>A (p.Pro184Thr) c.449-4996C>A (n.449-4996C>A) | |
3 | g.191375163C= | CA1429222151 | CCDC50 | c.550C= (p.Pro184=) c.449-4996C= (n.449-4996C=) | |
3 | g.191375163C>G | CA89778654 | CCDC50 | c.550C>G (p.Pro184Ala) c.449-4996C>G (n.449-4996C>G) | dbSNP |
3 | g.191375163C>T | CA355763943 | CCDC50 | c.550C>T (p.Pro184Ser) c.449-4996C>T (n.449-4996C>T) | |
3 | g.191375164C>A | CA355763946 | CCDC50 | c.551C>A (p.Pro184Gln) c.449-4995C>A (n.449-4995C>A) | |
3 | g.191375164C= | CA1429222152 | CCDC50 | c.551C= (p.Pro184=) c.449-4995C= (n.449-4995C=) | |
3 | g.191375164C>G | CA355763948 | CCDC50 | c.551C>G (p.Pro184Arg) c.449-4995C>G (n.449-4995C>G) | |
3 | g.191375164C>T | CA355763950 | CCDC50 | c.551C>T (p.Pro184Leu) c.449-4995C>T (n.449-4995C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375165A= | CA1429222153 | CCDC50 | c.552A= (p.Pro184=) c.449-4994A= (n.449-4994A=) | |
3 | g.191375165A>C | CA437422146 | CCDC50 | c.552A>C (p.Pro184=) c.449-4994A>C (n.449-4994A>C) | |
3 | g.191375165A>G | CA437422147 | CCDC50 | c.552A>G (p.Pro184=) c.449-4994A>G (n.449-4994A>G) | gnomAD v4 |
3 | g.191375165A>T | CA437422148 | CCDC50 | c.552A>T (p.Pro184=) c.449-4994A>T (n.449-4994A>T) | |
3 | g.191375166G>A | CA2755281 | CCDC50 | c.553G>A (p.Glu185Lys) c.449-4993G>A (n.449-4993G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375166G>C | CA355763955 | CCDC50 | c.553G>C (p.Glu185Gln) c.449-4993G>C (n.449-4993G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375166G= | CA1429222154 | CCDC50 | c.553G= (p.Glu185=) c.449-4993G= (n.449-4993G=) | |
3 | g.191375166G>T | CA355763952 | CCDC50 | c.553G>T (p.Glu185Ter) c.449-4993G>T (n.449-4993G>T) | |
3 | g.191375167_191375177dup | CA1429222155 | CCDC50 | c.554_564dup (p.Glu189AsnfsTer?) c.449-4992_449-4982dup (n.449-4992_449-4982dup) | dbSNP |
3 | g.191375167A>C | CA355763957 | CCDC50 | c.554A>C (p.Glu185Ala) c.449-4992A>C (n.449-4992A>C) | |
3 | g.191375167A>G | CA355763959 | CCDC50 | c.554A>G (p.Glu185Gly) c.449-4992A>G (n.449-4992A>G) | |
3 | g.191375167A>T | CA355763961 | CCDC50 | c.554A>T (p.Glu185Val) c.449-4992A>T (n.449-4992A>T) | |
3 | g.191375168A>C | CA355763963 | CCDC50 | c.555A>C (p.Glu185Asp) c.449-4991A>C (n.449-4991A>C) | |
3 | g.191375168A>G | CA437422151 | CCDC50 | c.555A>G (p.Glu185=) c.449-4991A>G (n.449-4991A>G) | |
3 | g.191375168A>T | CA355763965 | CCDC50 | c.555A>T (p.Glu185Asp) c.449-4991A>T (n.449-4991A>T) | |
3 | g.191375169C>A | CA355763967 | CCDC50 | c.556C>A (p.His186Asn) c.449-4990C>A (n.449-4990C>A) | |
3 | g.191375169C>G | CA355763969 | CCDC50 | c.556C>G (p.His186Asp) c.449-4990C>G (n.449-4990C>G) | |
3 | g.191375169C>T | CA355763971 | CCDC50 | c.556C>T (p.His186Tyr) c.449-4990C>T (n.449-4990C>T) | |
3 | g.191375170A= | CA1429222156 | CCDC50 | c.557A= (p.His186=) c.449-4989A= (n.449-4989A=) | |
3 | g.191375170A>C | CA355763974 | CCDC50 | c.557A>C (p.His186Pro) c.449-4989A>C (n.449-4989A>C) | |
3 | g.191375170A>G | CA355763975 | CCDC50 | c.557A>G (p.His186Arg) c.449-4989A>G (n.449-4989A>G) | dbSNP gnomAD v4 |
3 | g.191375170A>T | CA355763976 | CCDC50 | c.557A>T (p.His186Leu) c.449-4989A>T (n.449-4989A>T) | |
3 | g.191375171T>A | CA355763977 | CCDC50 | c.558T>A (p.His186Gln) c.449-4988T>A (n.449-4988T>A) | |
3 | g.191375171T>C | CA437422155 | CCDC50 | c.558T>C (p.His186=) c.449-4988T>C (n.449-4988T>C) | |
3 | g.191375171T>G | CA355763979 | CCDC50 | c.558T>G (p.His186Gln) c.449-4988T>G (n.449-4988T>G) | |
3 | g.191375172C>A | CA355763984 | CCDC50 | c.559C>A (p.Pro187Thr) c.449-4987C>A (n.449-4987C>A) | |
3 | g.191375172C>G | CA355763981 | CCDC50 | c.559C>G (p.Pro187Ala) c.449-4987C>G (n.449-4987C>G) | |
3 | g.191375172C>T | CA355763983 | CCDC50 | c.559C>T (p.Pro187Ser) c.449-4987C>T (n.449-4987C>T) | |
3 | g.191375173C>A | CA355763987 | CCDC50 | c.560C>A (p.Pro187Gln) c.449-4986C>A (n.449-4986C>A) | dbSNP gnomAD v4 |
3 | g.191375173C= | CA1429222157 | CCDC50 | c.560C= (p.Pro187=) c.449-4986C= (n.449-4986C=) | |
3 | g.191375173C>G | CA355763989 | CCDC50 | c.560C>G (p.Pro187Arg) c.449-4986C>G (n.449-4986C>G) | |
3 | g.191375173C>T | CA355763991 | CCDC50 | c.560C>T (p.Pro187Leu) c.449-4986C>T (n.449-4986C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375174A>C | CA437422158 | CCDC50 | c.561A>C (p.Pro187=) c.449-4985A>C (n.449-4985A>C) | |
3 | g.191375174A>G | CA437422159 | CCDC50 | c.561A>G (p.Pro187=) c.449-4985A>G (n.449-4985A>G) | dbSNP gnomAD v4 COSMIC |
3 | g.191375174A>T | CA437422157 | CCDC50 | c.561A>T (p.Pro187=) c.449-4985A>T (n.449-4985A>T) | |
3 | g.191375175C>A | CA355763993 | CCDC50 | c.562C>A (p.Leu188Met) c.449-4984C>A (n.449-4984C>A) | |
3 | g.191375175C= | CA1429222158 | CCDC50 | c.562C= (p.Leu188=) c.449-4984C= (n.449-4984C=) | |
3 | g.191375175C>G | CA355763995 | CCDC50 | c.562C>G (p.Leu188Val) c.449-4984C>G (n.449-4984C>G) | |
3 | g.191375175C>T | CA437422160 | CCDC50 | c.562C>T (p.Leu188=) c.449-4984C>T (n.449-4984C>T) | |
3 | g.191375176T>A | CA355763996 | CCDC50 | c.563T>A (p.Leu188Gln) c.449-4983T>A (n.449-4983T>A) | |
3 | g.191375176T>C | CA355763997 | CCDC50 | c.563T>C (p.Leu188Pro) c.449-4983T>C (n.449-4983T>C) | |
3 | g.191375176T>G | CA355763998 | CCDC50 | c.563T>G (p.Leu188Arg) c.449-4983T>G (n.449-4983T>G) | |
3 | g.191375176dup | CA2755282 | CCDC50 | c.563dup (p.Glu189GlyfsTer20) c.449-4983dup (n.449-4983dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375177G>A | CA437422164 | CCDC50 | c.564G>A (p.Leu188=) c.449-4982G>A (n.449-4982G>A) | |
3 | g.191375177G>C | CA437422165 | CCDC50 | c.564G>C (p.Leu188=) c.449-4982G>C (n.449-4982G>C) | |
3 | g.191375177G>T | CA437422166 | CCDC50 | c.564G>T (p.Leu188=) c.449-4982G>T (n.449-4982G>T) | |
3 | g.191375178G>A | CA355763999 | CCDC50 | c.565G>A (p.Glu189Lys) c.449-4981G>A (n.449-4981G>A) | |
3 | g.191375178G>C | CA355764000 | CCDC50 | c.565G>C (p.Glu189Gln) c.449-4981G>C (n.449-4981G>C) | |
3 | g.191375178G>T | CA355764001 | CCDC50 | c.565G>T (p.Glu189Ter) c.449-4981G>T (n.449-4981G>T) | COSMIC |
3 | g.191375179A>C | CA355764002 | CCDC50 | c.566A>C (p.Glu189Ala) c.449-4980A>C (n.449-4980A>C) | |
3 | g.191375179A>G | CA355764004 | CCDC50 | c.566A>G (p.Glu189Gly) c.449-4980A>G (n.449-4980A>G) | |
3 | g.191375179A>T | CA355764003 | CCDC50 | c.566A>T (p.Glu189Val) c.449-4980A>T (n.449-4980A>T) | |
3 | g.191375180G>A | CA437422168 | CCDC50 | c.567G>A (p.Glu189=) c.449-4979G>A (n.449-4979G>A) | |
3 | g.191375180G>C | CA355764005 | CCDC50 | c.567G>C (p.Glu189Asp) c.449-4979G>C (n.449-4979G>C) | |
3 | g.191375180G>T | CA355764006 | CCDC50 | c.567G>T (p.Glu189Asp) c.449-4979G>T (n.449-4979G>T) | |
3 | g.191375180_191375181delinsGA | CA1429222159 | CCDC50 | c.567_568delinsGA (p.Glu189=) c.449-4979_449-4978delinsGA (n.449-4979_449-4978delinsGA) | |
3 | g.191375181A>C | CA355764007 | CCDC50 | c.568A>C (p.Asn190His) c.449-4978A>C (n.449-4978A>C) | |
3 | g.191375181A>G | CA355764008 | CCDC50 | c.568A>G (p.Asn190Asp) c.449-4978A>G (n.449-4978A>G) | |
3 | g.191375181A>T | CA355764009 | CCDC50 | c.568A>T (p.Asn190Tyr) c.449-4978A>T (n.449-4978A>T) | |
3 | g.191375182del | CA917083648 | CCDC50 | c.569del (p.Asn190ThrfsTer?) c.449-4977del (n.449-4977del) | dbSNP gnomAD v4 |
3 | g.191375182A= | CA1429222160 | CCDC50 | c.569A= (p.Asn190=) c.449-4977A= (n.449-4977A=) | |
3 | g.191375182A>C | CA355764010 | CCDC50 | c.569A>C (p.Asn190Thr) c.449-4977A>C (n.449-4977A>C) | |
3 | g.191375182A>G | CA89778657 | CCDC50 | c.569A>G (p.Asn190Ser) c.449-4977A>G (n.449-4977A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375182A>T | CA355764011 | CCDC50 | c.569A>T (p.Asn190Ile) c.449-4977A>T (n.449-4977A>T) |