| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756410_46756458del | CA2585987495 | FKRP | c.960_1008del (p.Leu322CysfsTer?) n.247-5423_247-5375del n.247+7745_247+7793del | gnomAD v4 |
| 19 | g.46756406_46756452delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | CA2339067560 | FKRP | c.956_1002delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG (p.Leu319=) n.247-5427_247-5381delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG n.247+7741_247+7787delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | |
| 19 | g.46756409_46756454del | CA633484281 | FKRP | c.959_1004del (p.Arg320LeufsTer?) n.247-5424_247-5379del n.247+7744_247+7789del | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756448_46756465del | CA2573156479 | FKRP | c.998_1015del (p.Leu333_Val338del) n.247-5385_247-5368del n.247+7783_247+7800del | ClinVar dbSNP |
| 19 | g.46756445_46756452del | CA2585987496 | FKRP | c.995_1002del (p.Val332GlyfsTer?) n.247-5388_247-5381del n.247+7780_247+7787del | gnomAD v4 |
| 19 | g.46756445T>A | CA406496432 | FKRP | c.995T>A (p.Val332Glu) n.247-5388T>A n.247+7780T>A | |
| 19 | g.46756445T>C | CA406496433 | FKRP | c.995T>C (p.Val332Ala) n.247-5388T>C n.247+7780T>C | |
| 19 | g.46756445T>G | CA406496434 | FKRP | c.995T>G (p.Val332Gly) n.247-5388T>G n.247+7780T>G | |
| 19 | g.46756446G>A | CA507975632 | FKRP | c.996G>A (p.Val332=) n.247-5387G>A n.247+7781G>A | ClinVar gnomAD v4 |
| 19 | g.46756446G>C | CA507975633 | FKRP | c.996G>C (p.Val332=) n.247-5387G>C n.247+7781G>C | |
| 19 | g.46756446G>T | CA507975636 | FKRP | c.996G>T (p.Val332=) n.247-5387G>T n.247+7781G>T | gnomAD v4 COSMIC |
| 19 | g.46756447C>A | CA406496435 | FKRP | c.997C>A (p.Leu333Met) n.247-5386C>A n.247+7782C>A | gnomAD v4 |
| 19 | g.46756447C>G | CA406496436 | FKRP | c.997C>G (p.Leu333Val) n.247-5386C>G n.247+7782C>G | ClinVar |
| 19 | g.46756447C>T | CA507975638 | FKRP | c.997C>T (p.Leu333=) n.247-5386C>T n.247+7782C>T | |
| 19 | g.46756448T>A | CA406496437 | FKRP | c.998T>A (p.Leu333Gln) n.247-5385T>A n.247+7783T>A | |
| 19 | g.46756448T>C | CA406496438 | FKRP | c.998T>C (p.Leu333Pro) n.247-5385T>C n.247+7783T>C | dbSNP gnomAD v4 |
| 19 | g.46756448T>G | CA406496439 | FKRP | c.998T>G (p.Leu333Arg) n.247-5385T>G n.247+7783T>G | |
| 19 | g.46756449G>A | CA507975642 | FKRP | c.999G>A (p.Leu333=) n.247-5384G>A n.247+7784G>A | gnomAD v4 |
| 19 | g.46756449G>C | CA507975643 | FKRP | c.999G>C (p.Leu333=) n.247-5384G>C n.247+7784G>C | |
| 19 | g.46756449G= | CA2339067614 | FKRP | c.999G= (p.Leu333=) n.247-5384G= n.247+7784G= | |
| 19 | g.46756449G>T | CA507975644 | FKRP | c.999G>T (p.Leu333=) n.247-5384G>T n.247+7784G>T | |
| 19 | g.46756450G>A | CA406496440 | FKRP | c.1000G>A (p.Glu334Lys) n.247-5383G>A n.247+7785G>A | ClinVar dbSNP |
| 19 | g.46756450G>C | CA406496441 | FKRP | c.1000G>C (p.Glu334Gln) n.247-5383G>C n.247+7785G>C | |
| 19 | g.46756450G= | CA2339067615 | FKRP | c.1000G= (p.Glu334=) n.247-5383G= n.247+7785G= | |
| 19 | g.46756450G>T | CA406496442 | FKRP | c.1000G>T (p.Glu334Ter) n.247-5383G>T n.247+7785G>T | ClinVar |
| 19 | g.46756450_46756467dup | CA915951960 | FKRP | c.1000_1017dup (p.Arg339_Tyr340insGluAlaAlaGlyValArg) n.247-5383_247-5366dup n.247+7785_247+7802dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756451A= | CA2339067618 | FKRP | c.1001A= (p.Glu334=) n.247-5382A= n.247+7786A= | |
| 19 | g.46756451A>C | CA406496444 | FKRP | c.1001A>C (p.Glu334Ala) n.247-5382A>C n.247+7786A>C | |
| 19 | g.46756451A>G | CA406496445 | FKRP | c.1001A>G (p.Glu334Gly) n.247-5382A>G n.247+7786A>G | dbSNP gnomAD v4 |
| 19 | g.46756451A>T | CA406496443 | FKRP | c.1001A>T (p.Glu334Val) n.247-5382A>T n.247+7786A>T | |
| 19 | g.46756451_46756620delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | CA2339067617 | FKRP | c.1001_1170delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC (p.Glu334=) n.247-5382_247-5213delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC n.247+7786_247+7955delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | |
| 19 | g.46756452G>A | CA507975650 | FKRP | c.1002G>A (p.Glu334=) n.247-5381G>A n.247+7787G>A | |
| 19 | g.46756452G>C | CA406496446 | FKRP | c.1002G>C (p.Glu334Asp) n.247-5381G>C n.247+7787G>C | dbSNP gnomAD v4 |
| 19 | g.46756452G= | CA2339067621 | FKRP | c.1002G= (p.Glu334=) n.247-5381G= n.247+7787G= | |
| 19 | g.46756452G>T | CA406496447 | FKRP | c.1002G>T (p.Glu334Asp) n.247-5381G>T n.247+7787G>T | gnomAD v4 |
| 19 | g.46756456_46756624del | CA915951961 | FKRP | c.1006_1174del (p.Ala336SerfsTer?) n.247-5377_247-5209del n.247+7791_247+7959del | ClinVar dbSNP |
| 19 | g.46756453G>A | CA9532222 | FKRP | c.1003G>A (p.Ala335Thr) n.247-5380G>A n.247+7788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756453G>C | CA406496448 | FKRP | c.1003G>C (p.Ala335Pro) n.247-5380G>C n.247+7788G>C | |
| 19 | g.46756453G= | CA2339067622 | FKRP | c.1003G= (p.Ala335=) n.247-5380G= n.247+7788G= | |
| 19 | g.46756453G>T | CA406496449 | FKRP | c.1003G>T (p.Ala335Ser) n.247-5380G>T n.247+7788G>T | gnomAD v4 |
| 19 | g.46756457_46756494del | CA2585987497 | FKRP | c.1007_1044del (p.Ala336GlyfsTer?) n.247-5376_247-5339del n.247+7792_247+7829del | gnomAD v4 |
| 19 | g.46756454C>A | CA406496450 | FKRP | c.1004C>A (p.Ala335Asp) n.247-5379C>A n.247+7789C>A | gnomAD v4 |
| 19 | g.46756454C>G | CA406496451 | FKRP | c.1004C>G (p.Ala335Gly) n.247-5379C>G n.247+7789C>G | |
| 19 | g.46756454C>T | CA406496452 | FKRP | c.1004C>T (p.Ala335Val) n.247-5379C>T n.247+7789C>T | |
| 19 | g.46756455T>A | CA507975656 | FKRP | c.1005T>A (p.Ala335=) n.247-5378T>A n.247+7790T>A | |
| 19 | g.46756455T>C | CA507975658 | FKRP | c.1005T>C (p.Ala335=) n.247-5378T>C n.247+7790T>C | gnomAD v4 |
| 19 | g.46756455T>G | CA507975659 | FKRP | c.1005T>G (p.Ala335=) n.247-5378T>G n.247+7790T>G | |
| 19 | g.46756456G>A | CA406496453 | FKRP | c.1006G>A (p.Ala336Thr) n.247-5377G>A n.247+7791G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756456G>C | CA406496454 | FKRP | c.1006G>C (p.Ala336Pro) n.247-5377G>C n.247+7791G>C | |
| 19 | g.46756456G= | CA2339067624 | FKRP | c.1006G= (p.Ala336=) n.247-5377G= n.247+7791G= | |
| 19 | g.46756456G>T | CA406496455 | FKRP | c.1006G>T (p.Ala336Ser) n.247-5377G>T n.247+7791G>T | gnomAD v4 |
| 19 | g.46756457C>A | CA406496456 | FKRP | c.1007C>A (p.Ala336Glu) n.247-5376C>A n.247+7792C>A | gnomAD v4 |
| 19 | g.46756457C= | CA2339067627 | FKRP | c.1007C= (p.Ala336=) n.247-5376C= n.247+7792C= | |
| 19 | g.46756457C>G | CA406496457 | FKRP | c.1007C>G (p.Ala336Gly) n.247-5376C>G n.247+7792C>G | |
| 19 | g.46756457C>T | CA406496458 | FKRP | c.1007C>T (p.Ala336Val) n.247-5376C>T n.247+7792C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756458G>A | CA507975668 | FKRP | c.1008G>A (p.Ala336=) n.247-5375G>A n.247+7793G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756458G>C | CA9532223 | FKRP | c.1008G>C (p.Ala336=) n.247-5375G>C n.247+7793G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756458G= | CA2339067628 | FKRP | c.1008G= (p.Ala336=) n.247-5375G= n.247+7793G= | |
| 19 | g.46756458G>T | CA507975665 | FKRP | c.1008G>T (p.Ala336=) n.247-5375G>T n.247+7793G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756459_46756460dup | CA2585987498 | FKRP | c.1009_1010dup (p.Val338AlafsTer?) n.247-5374_247-5373dup n.247+7794_247+7795dup | gnomAD v4 |
| 19 | g.46756459G>A | CA406496459 | FKRP | c.1009G>A (p.Gly337Ser) n.247-5374G>A n.247+7794G>A | |
| 19 | g.46756459G>C | CA406496460 | FKRP | c.1009G>C (p.Gly337Arg) n.247-5374G>C n.247+7794G>C | dbSNP |
| 19 | g.46756459G= | CA2339067629 | FKRP | c.1009G= (p.Gly337=) n.247-5374G= n.247+7794G= | |
| 19 | g.46756459G>T | CA406496461 | FKRP | c.1009G>T (p.Gly337Cys) n.247-5374G>T n.247+7794G>T | |
| 19 | g.46756460G>A | CA406496462 | FKRP | c.1010G>A (p.Gly337Asp) n.247-5373G>A n.247+7795G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756460G>C | CA406496463 | FKRP | c.1010G>C (p.Gly337Ala) n.247-5373G>C n.247+7795G>C | gnomAD v4 |
| 19 | g.46756460G= | CA2339067630 | FKRP | c.1010G= (p.Gly337=) n.247-5373G= n.247+7795G= | |
| 19 | g.46756460G>T | CA406496464 | FKRP | c.1010G>T (p.Gly337Val) n.247-5373G>T n.247+7795G>T | gnomAD v4 |
| 19 | g.46756461C>A | CA9532224 | FKRP | c.1011C>A (p.Gly337=) n.247-5372C>A n.247+7796C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756461C= | CA2339067631 | FKRP | c.1011C= (p.Gly337=) n.247-5372C= n.247+7796C= | |
| 19 | g.46756461C>G | CA507975673 | FKRP | c.1011C>G (p.Gly337=) n.247-5372C>G n.247+7796C>G | |
| 19 | g.46756461C>T | CA507975675 | FKRP | c.1011C>T (p.Gly337=) n.247-5372C>T n.247+7796C>T | gnomAD v4 |
| 19 | g.46756461_46756462delinsCG | CA2339067632 | FKRP | c.1011_1012delinsCG (p.Gly337=) n.247-5372_247-5371delinsCG n.247+7796_247+7797delinsCG | |
| 19 | g.46756462del | CA2339067633 | FKRP | c.1012del (p.Val338CysfsTer?) n.247-5371del n.247+7797del | dbSNP |
| 19 | g.46756462G>A | CA406496465 | FKRP | c.1012G>A (p.Val338Met) n.247-5371G>A n.247+7797G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756462G>C | CA406496466 | FKRP | c.1012G>C (p.Val338Leu) n.247-5371G>C n.247+7797G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756462G= | CA2339067634 | FKRP | c.1012G= (p.Val338=) n.247-5371G= n.247+7797G= | |
| 19 | g.46756462G>T | CA406496467 | FKRP | c.1012G>T (p.Val338Leu) n.247-5371G>T n.247+7797G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756463T>A | CA406496468 | FKRP | c.1013T>A (p.Val338Glu) n.247-5370T>A n.247+7798T>A | |
| 19 | g.46756463T>C | CA406496469 | FKRP | c.1013T>C (p.Val338Ala) n.247-5370T>C n.247+7798T>C | |
| 19 | g.46756463T>G | CA406496470 | FKRP | c.1013T>G (p.Val338Gly) n.247-5370T>G n.247+7798T>G | |
| 19 | g.46756464G>A | CA507975680 | FKRP | c.1014G>A (p.Val338=) n.247-5369G>A n.247+7799G>A | gnomAD v4 |
| 19 | g.46756464G>C | CA507975683 | FKRP | c.1014G>C (p.Val338=) n.247-5369G>C n.247+7799G>C | ClinVar dbSNP |
| 19 | g.46756464G= | CA2339067635 | FKRP | c.1014G= (p.Val338=) n.247-5369G= n.247+7799G= | |
| 19 | g.46756464G>T | CA507975682 | FKRP | c.1014G>T (p.Val338=) n.247-5369G>T n.247+7799G>T | dbSNP gnomAD v2 |
| 19 | g.46756464_46756465insTCGCCCACCA | CA507975686 | FKRP | c.1014_1015insTCGCCCACCA (p.Arg339SerfsTer?) n.247-5369_247-5368insTCGCCCACCA n.247+7799_247+7800insTCGCCCACCA | |
| 19 | g.46756465C>A | CA406496473 | FKRP | c.1015C>A (p.Arg339Ser) n.247-5368C>A n.247+7800C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756465C>G | CA406496471 | FKRP | c.1015C>G (p.Arg339Gly) n.247-5368C>G n.247+7800C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756465C>T | CA406496472 | FKRP | c.1015C>T (p.Arg339Cys) n.247-5368C>T n.247+7800C>T | gnomAD v4 |
| 19 | g.46756466G>A | CA406496474 | FKRP | c.1016G>A (p.Arg339His) n.247-5367G>A n.247+7801G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756466G>C | CA406496475 | FKRP | c.1016G>C (p.Arg339Pro) n.247-5367G>C n.247+7801G>C | ClinVar dbSNP gnomAD v2 |
| 19 | g.46756466G= | CA2339067636 | FKRP | c.1016G= (p.Arg339=) n.247-5367G= n.247+7801G= | |
| 19 | g.46756466G>T | CA406496476 | FKRP | c.1016G>T (p.Arg339Leu) n.247-5367G>T n.247+7801G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756467C>A | CA507975694 | FKRP | c.1017C>A (p.Arg339=) n.247-5366C>A n.247+7802C>A | gnomAD v4 |
| 19 | g.46756467C>G | CA507975695 | FKRP | c.1017C>G (p.Arg339=) n.247-5366C>G n.247+7802C>G | |
| 19 | g.46756467C>T | CA507975697 | FKRP | c.1017C>T (p.Arg339=) n.247-5366C>T n.247+7802C>T | dbSNP |
| 19 | g.46756468T>A | CA406496477 | FKRP | c.1018T>A (p.Tyr340Asn) n.247-5365T>A n.247+7803T>A | |
| 19 | g.46756468T>C | CA406496478 | FKRP | c.1018T>C (p.Tyr340His) n.247-5365T>C n.247+7803T>C | |
| 19 | g.46756468T>G | CA406496479 | FKRP | c.1018T>G (p.Tyr340Asp) n.247-5365T>G n.247+7803T>G | |
| 19 | g.46756469A= | CA2339067637 | FKRP | c.1019A= (p.Tyr340=) n.247-5364A= n.247+7804A= | |
| 19 | g.46756469A>C | CA406496480 | FKRP | c.1019A>C (p.Tyr340Ser) n.247-5364A>C n.247+7804A>C | gnomAD v4 |
| 19 | g.46756469A>G | CA406496481 | FKRP | c.1019A>G (p.Tyr340Cys) n.247-5364A>G n.247+7804A>G | |
| 19 | g.46756469A>T | CA406496482 | FKRP | c.1019A>T (p.Tyr340Phe) n.247-5364A>T n.247+7804A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756470C>A | CA406496483 | FKRP | c.1020C>A (p.Tyr340Ter) n.247-5363C>A n.247+7805C>A | |
| 19 | g.46756470C= | CA2339067638 | FKRP | c.1020C= (p.Tyr340=) n.247-5363C= n.247+7805C= | |
| 19 | g.46756470C>G | CA406496484 | FKRP | c.1020C>G (p.Tyr340Ter) n.247-5363C>G n.247+7805C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756470C>T | CA9532225 | FKRP | c.1020C>T (p.Tyr340=) n.247-5363C>T n.247+7805C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756471T>A | CA406496487 | FKRP | c.1021T>A (p.Trp341Arg) n.247-5362T>A n.247+7806T>A | gnomAD v4 |
| 19 | g.46756471T>C | CA406496486 | FKRP | c.1021T>C (p.Trp341Arg) n.247-5362T>C n.247+7806T>C | gnomAD v4 |
| 19 | g.46756471T>G | CA406496485 | FKRP | c.1021T>G (p.Trp341Gly) n.247-5362T>G n.247+7806T>G | |
| 19 | g.46756472G>A | CA406496488 | FKRP | c.1022G>A (p.Trp341Ter) n.247-5361G>A n.247+7807G>A | ClinVar dbSNP |
| 19 | g.46756472G>C | CA406496489 | FKRP | c.1022G>C (p.Trp341Ser) n.247-5361G>C n.247+7807G>C | |
| 19 | g.46756472G= | CA2339067639 | FKRP | c.1022G= (p.Trp341=) n.247-5361G= n.247+7807G= | |
| 19 | g.46756472G>T | CA406496490 | FKRP | c.1022G>T (p.Trp341Leu) n.247-5361G>T n.247+7807G>T | |
| 19 | g.46756473G>A | CA406496491 | FKRP | c.1023G>A (p.Trp341Ter) n.247-5360G>A n.247+7808G>A | gnomAD v4 |
| 19 | g.46756473G>C | CA406496492 | FKRP | c.1023G>C (p.Trp341Cys) n.247-5360G>C n.247+7808G>C | |
| 19 | g.46756473G>T | CA406496493 | FKRP | c.1023G>T (p.Trp341Cys) n.247-5360G>T n.247+7808G>T | gnomAD v4 |
| 19 | g.46756474C>A | CA406496494 | FKRP | c.1024C>A (p.Leu342Ile) n.247-5359C>A n.247+7809C>A | gnomAD v4 |
| 19 | g.46756474C>G | CA406496495 | FKRP | c.1024C>G (p.Leu342Val) n.247-5359C>G n.247+7809C>G | |
| 19 | g.46756474C>T | CA406496496 | FKRP | c.1024C>T (p.Leu342Phe) n.247-5359C>T n.247+7809C>T | |
| 19 | g.46756475T>A | CA406496497 | FKRP | c.1025T>A (p.Leu342His) n.247-5358T>A n.247+7810T>A | |
| 19 | g.46756475T>C | CA406496498 | FKRP | c.1025T>C (p.Leu342Pro) n.247-5358T>C n.247+7810T>C | |
| 19 | g.46756475T>G | CA406496499 | FKRP | c.1025T>G (p.Leu342Arg) n.247-5358T>G n.247+7810T>G | |
| 19 | g.46756475T= | CA2339067640 | FKRP | c.1025T= (p.Leu342=) n.247-5358T= n.247+7810T= | |
| 19 | g.46756476C>A | CA507975717 | FKRP | c.1026C>A (p.Leu342=) n.247-5357C>A n.247+7811C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756476C= | CA2339067641 | FKRP | c.1026C= (p.Leu342=) n.247-5357C= n.247+7811C= | |
| 19 | g.46756476C>G | CA507975719 | FKRP | c.1026C>G (p.Leu342=) n.247-5357C>G n.247+7811C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756476C>T | CA507975724 | FKRP | c.1026C>T (p.Leu342=) n.247-5357C>T n.247+7811C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756476_46756477insCC | CA2741635293 | FKRP | c.1026_1027insCC (p.Glu343ProfsTer?) n.247-5357_247-5356insCC n.247+7811_247+7812insCC | |
| 19 | g.46756476_46756477insCCC | CA406496500 | FKRP | c.1026_1027insCCC (p.Leu342_Glu343insPro) n.247-5357_247-5356insCCC n.247+7811_247+7812insCCC | dbSNP |
| 19 | g.46756476dup | CA996422872 | FKRP | c.1026dup (p.Glu343ArgfsTer?) n.247-5357dup n.247+7811dup | gnomAD v3 gnomAD v4 |
| 19 | g.46756476_46756477insCCGG | CA406496502 | FKRP | c.1026_1027insCCGG (p.Glu343ProfsTer?) n.247-5357_247-5356insCCGG n.247+7811_247+7812insCCGG | dbSNP |
| 19 | g.46756477G>A | CA406496503 | FKRP | c.1027G>A (p.Glu343Lys) n.247-5356G>A n.247+7812G>A | gnomAD v4 |
| 19 | g.46756477G>C | CA231092 | FKRP | c.1027G>C (p.Glu343Gln) n.247-5356G>C n.247+7812G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756477G= | CA2339067642 | FKRP | c.1027G= (p.Glu343=) n.247-5356G= n.247+7812G= | |
| 19 | g.46756477G>T | CA406496501 | FKRP | c.1027G>T (p.Glu343Ter) n.247-5356G>T n.247+7812G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756478A= | CA2339067643 | FKRP | c.1028A= (p.Glu343=) n.247-5355A= n.247+7813A= | |
| 19 | g.46756478A>C | CA9532226 | FKRP | c.1028A>C (p.Glu343Ala) n.247-5355A>C n.247+7813A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756478A>G | CA406496504 | FKRP | c.1028A>G (p.Glu343Gly) n.247-5355A>G n.247+7813A>G | dbSNP |
| 19 | g.46756478A>T | CA406496505 | FKRP | c.1028A>T (p.Glu343Val) n.247-5355A>T n.247+7813A>T | gnomAD v4 |
| 19 | g.46756479G>A | CA9532227 | FKRP | c.1029G>A (p.Glu343=) n.247-5354G>A n.247+7814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756479G>C | CA406496506 | FKRP | c.1029G>C (p.Glu343Asp) n.247-5354G>C n.247+7814G>C | |
| 19 | g.46756479G= | CA2339067644 | FKRP | c.1029G= (p.Glu343=) n.247-5354G= n.247+7814G= | |
| 19 | g.46756479G>T | CA9532228 | FKRP | c.1029G>T (p.Glu343Asp) n.247-5354G>T n.247+7814G>T | dbSNP ExAC gnomAD v4 |
| 19 | g.46756480G>A | CA406496509 | FKRP | c.1030G>A (p.Gly344Ser) n.247-5353G>A n.247+7815G>A | gnomAD v4 |
| 19 | g.46756480G>C | CA406496507 | FKRP | c.1030G>C (p.Gly344Arg) n.247-5353G>C n.247+7815G>C | |
| 19 | g.46756480G= | CA2339067645 | FKRP | c.1030G= (p.Gly344=) n.247-5353G= n.247+7815G= | |
| 19 | g.46756480G>T | CA406496508 | FKRP | c.1030G>T (p.Gly344Cys) n.247-5353G>T n.247+7815G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756481G>A | CA406496510 | FKRP | c.1031G>A (p.Gly344Asp) n.247-5352G>A n.247+7816G>A | gnomAD v4 |
| 19 | g.46756481G>C | CA406496511 | FKRP | c.1031G>C (p.Gly344Ala) n.247-5352G>C n.247+7816G>C | |
| 19 | g.46756481G>T | CA406496512 | FKRP | c.1031G>T (p.Gly344Val) n.247-5352G>T n.247+7816G>T | gnomAD v4 |
| 19 | g.46756482C>A | CA9532230 | FKRP | c.1032C>A (p.Gly344=) n.247-5351C>A n.247+7817C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756482C= | CA2339067646 | FKRP | c.1032C= (p.Gly344=) n.247-5351C= n.247+7817C= | |
| 19 | g.46756482C>G | CA9532229 | FKRP | c.1032C>G (p.Gly344=) n.247-5351C>G n.247+7817C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756482C>T | CA507975732 | FKRP | c.1032C>T (p.Gly344=) n.247-5351C>T n.247+7817C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756483G>A | CA406496515 | FKRP | c.1033G>A (p.Gly345Ser) n.247-5350G>A n.247+7818G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756483G>C | CA406496513 | FKRP | c.1033G>C (p.Gly345Arg) n.247-5350G>C n.247+7818G>C | |
| 19 | g.46756483G= | CA2339067647 | FKRP | c.1033G= (p.Gly345=) n.247-5350G= n.247+7818G= | |
| 19 | g.46756483G>T | CA406496514 | FKRP | c.1033G>T (p.Gly345Cys) n.247-5350G>T n.247+7818G>T | dbSNP gnomAD v2 |
| 19 | g.46756484G>A | CA406496516 | FKRP | c.1034G>A (p.Gly345Asp) n.247-5349G>A n.247+7819G>A | gnomAD v4 |
| 19 | g.46756484G>C | CA406496517 | FKRP | c.1034G>C (p.Gly345Ala) n.247-5349G>C n.247+7819G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756484G= | CA2339067648 | FKRP | c.1034G= (p.Gly345=) n.247-5349G= n.247+7819G= | |
| 19 | g.46756484G>T | CA406496518 | FKRP | c.1034G>T (p.Gly345Val) n.247-5349G>T n.247+7819G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756485C>A | CA9532231 | FKRP | c.1035C>A (p.Gly345=) n.247-5348C>A n.247+7820C>A | dbSNP ExAC |
| 19 | g.46756485C= | CA2339067649 | FKRP | c.1035C= (p.Gly345=) n.247-5348C= n.247+7820C= | |
| 19 | g.46756485C>G | CA9532232 | FKRP | c.1035C>G (p.Gly345=) n.247-5348C>G n.247+7820C>G | dbSNP ExAC |
| 19 | g.46756485C>T | CA507975737 | FKRP | c.1035C>T (p.Gly345=) n.247-5348C>T n.247+7820C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756486T>A | CA406496520 | FKRP | c.1036T>A (p.Ser346Thr) n.247-5347T>A n.247+7821T>A | |
| 19 | g.46756486T>C | CA406496519 | FKRP | c.1036T>C (p.Ser346Pro) n.247-5347T>C n.247+7821T>C | ClinVar dbSNP |
| 19 | g.46756486T>G | CA9532233 | FKRP | c.1036T>G (p.Ser346Ala) n.247-5347T>G n.247+7821T>G | dbSNP ExAC |
| 19 | g.46756486T= | CA2339067650 | FKRP | c.1036T= (p.Ser346=) n.247-5347T= n.247+7821T= | |
| 19 | g.46756487C>A | CA406496521 | FKRP | c.1037C>A (p.Ser346Ter) n.247-5346C>A n.247+7822C>A | |
| 19 | g.46756487C>G | CA406496522 | FKRP | c.1037C>G (p.Ser346Ter) n.247-5346C>G n.247+7822C>G | |
| 19 | g.46756487C>T | CA406496523 | FKRP | c.1037C>T (p.Ser346Leu) n.247-5346C>T n.247+7822C>T | ClinVar gnomAD v4 |
| 19 | g.46756488A= | CA2339067651 | FKRP | c.1038A= (p.Ser346=) n.247-5345A= n.247+7823A= | |
| 19 | g.46756488A>C | CA9532234 | FKRP | c.1038A>C (p.Ser346=) n.247-5345A>C n.247+7823A>C | dbSNP ExAC |
| 19 | g.46756488A>G | CA507975743 | FKRP | c.1038A>G (p.Ser346=) n.247-5345A>G n.247+7823A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756488A>T | CA507975745 | FKRP | c.1038A>T (p.Ser346=) n.247-5345A>T n.247+7823A>T | ClinVar |
| 19 | g.46756489C>A | CA406496524 | FKRP | c.1039C>A (p.Leu347Met) n.247-5344C>A n.247+7824C>A | gnomAD v4 |
| 19 | g.46756489C>G | CA406496525 | FKRP | c.1039C>G (p.Leu347Val) n.247-5344C>G n.247+7824C>G | |
| 19 | g.46756489C>T | CA507975747 | FKRP | c.1039C>T (p.Leu347=) n.247-5344C>T n.247+7824C>T | ClinVar dbSNP |
| 19 | g.46756490T>A | CA406496526 | FKRP | c.1040T>A (p.Leu347Gln) n.247-5343T>A n.247+7825T>A | ClinVar gnomAD v4 |
| 19 | g.46756490T>C | CA406496528 | FKRP | c.1040T>C (p.Leu347Pro) n.247-5343T>C n.247+7825T>C | |
| 19 | g.46756490T>G | CA406496527 | FKRP | c.1040T>G (p.Leu347Arg) n.247-5343T>G n.247+7825T>G | |
| 19 | g.46756491G>A | CA507975750 | FKRP | c.1041G>A (p.Leu347=) n.247-5342G>A n.247+7826G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756491G>C | CA507975751 | FKRP | c.1041G>C (p.Leu347=) n.247-5342G>C n.247+7826G>C | |
| 19 | g.46756491G= | CA2339067652 | FKRP | c.1041G= (p.Leu347=) n.247-5342G= n.247+7826G= | |
| 19 | g.46756491G>T | CA507975752 | FKRP | c.1041G>T (p.Leu347=) n.247-5342G>T n.247+7826G>T | gnomAD v4 |
| 19 | g.46756492C>A | CA406496529 | FKRP | c.1042C>A (p.Leu348Met) n.247-5341C>A n.247+7827C>A | gnomAD v4 |
| 19 | g.46756492C>G | CA406496530 | FKRP | c.1042C>G (p.Leu348Val) n.247-5341C>G n.247+7827C>G | |
| 19 | g.46756492C>T | CA507975754 | FKRP | c.1042C>T (p.Leu348=) n.247-5341C>T n.247+7827C>T | |
| 19 | g.46756493T>A | CA406496531 | FKRP | c.1043T>A (p.Leu348Gln) n.247-5340T>A n.247+7828T>A | ClinVar |
| 19 | g.46756493T>C | CA406496532 | FKRP | c.1043T>C (p.Leu348Pro) n.247-5340T>C n.247+7828T>C | |
| 19 | g.46756493T>G | CA309099732 | FKRP | c.1043T>G (p.Leu348Arg) n.247-5340T>G n.247+7828T>G | dbSNP gnomAD v4 COSMIC |
| 19 | g.46756493T= | CA2339067653 | FKRP | c.1043T= (p.Leu348=) n.247-5340T= n.247+7828T= | |
| 19 | g.46756494G>A | CA507975757 | FKRP | c.1044G>A (p.Leu348=) n.247-5339G>A n.247+7829G>A | gnomAD v4 |
| 19 | g.46756494G>C | CA507975761 | FKRP | c.1044G>C (p.Leu348=) n.247-5339G>C n.247+7829G>C | |
| 19 | g.46756494G= | CA2339067654 | FKRP | c.1044G= (p.Leu348=) n.247-5339G= n.247+7829G= | |
| 19 | g.46756494G>T | CA507975760 | FKRP | c.1044G>T (p.Leu348=) n.247-5339G>T n.247+7829G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756495G>A | CA406496535 | FKRP | c.1045G>A (p.Gly349Arg) n.247-5338G>A n.247+7830G>A | gnomAD v4 |
| 19 | g.46756495G>C | CA406496534 | FKRP | c.1045G>C (p.Gly349Arg) n.247-5338G>C n.247+7830G>C | |
| 19 | g.46756495G>T | CA406496533 | FKRP | c.1045G>T (p.Gly349Trp) n.247-5338G>T n.247+7830G>T | ClinVar gnomAD v4 |
| 19 | g.46756496G>A | CA406496536 | FKRP | c.1046G>A (p.Gly349Glu) n.247-5337G>A n.247+7831G>A | |
| 19 | g.46756496G>C | CA406496537 | FKRP | c.1046G>C (p.Gly349Ala) n.247-5337G>C n.247+7831G>C | |
| 19 | g.46756496G>T | CA406496538 | FKRP | c.1046G>T (p.Gly349Val) n.247-5337G>T n.247+7831G>T | |
| 19 | g.46756497G>A | CA507975763 | FKRP | c.1047G>A (p.Gly349=) n.247-5336G>A n.247+7832G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756497G>C | CA507975764 | FKRP | c.1047G>C (p.Gly349=) n.247-5336G>C n.247+7832G>C | |
| 19 | g.46756497G= | CA2339067655 | FKRP | c.1047G= (p.Gly349=) n.247-5336G= n.247+7832G= | |
| 19 | g.46756497G>T | CA507975765 | FKRP | c.1047G>T (p.Gly349=) n.247-5336G>T n.247+7832G>T | |
| 19 | g.46756498G>A | CA406496539 | FKRP | c.1048G>A (p.Ala350Thr) n.247-5335G>A n.247+7833G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756498G>C | CA406496540 | FKRP | c.1048G>C (p.Ala350Pro) n.247-5335G>C n.247+7833G>C | dbSNP gnomAD v4 |
| 19 | g.46756498G= | CA2339067656 | FKRP | c.1048G= (p.Ala350=) n.247-5335G= n.247+7833G= | |
| 19 | g.46756498G>T | CA406496541 | FKRP | c.1048G>T (p.Ala350Ser) n.247-5335G>T n.247+7833G>T | |
| 19 | g.46756499C>A | CA406496542 | FKRP | c.1049C>A (p.Ala350Asp) n.247-5334C>A n.247+7834C>A | |
| 19 | g.46756499C= | CA2339067657 | FKRP | c.1049C= (p.Ala350=) n.247-5334C= n.247+7834C= | |
| 19 | g.46756499C>G | CA9532235 | FKRP | c.1049C>G (p.Ala350Gly) n.247-5334C>G n.247+7834C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756499C>T | CA406496543 | FKRP | c.1049C>T (p.Ala350Val) n.247-5334C>T n.247+7834C>T | gnomAD v4 |
| 19 | g.46756500C>A | CA507975770 | FKRP | c.1050C>A (p.Ala350=) n.247-5333C>A n.247+7835C>A | gnomAD v4 |
| 19 | g.46756500C= | CA2339067658 | FKRP | c.1050C= (p.Ala350=) n.247-5333C= n.247+7835C= | |
| 19 | g.46756500C>G | CA507975771 | FKRP | c.1050C>G (p.Ala350=) n.247-5333C>G n.247+7835C>G | |
| 19 | g.46756500C>T | CA507975772 | FKRP | c.1050C>T (p.Ala350=) n.247-5333C>T n.247+7835C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756501G>A | CA309099737 | FKRP | c.1051G>A (p.Ala351Thr) n.247-5332G>A n.247+7836G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756501G>C | CA309099736 | FKRP | c.1051G>C (p.Ala351Pro) n.247-5332G>C n.247+7836G>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.46756501G= | CA2339067659 | FKRP | c.1051G= (p.Ala351=) n.247-5332G= n.247+7836G= | |
| 19 | g.46756501G>T | CA406496544 | FKRP | c.1051G>T (p.Ala351Ser) n.247-5332G>T n.247+7836G>T | gnomAD v4 |
| 19 | g.46756502C>A | CA406496545 | FKRP | c.1052C>A (p.Ala351Asp) n.247-5331C>A n.247+7837C>A | |
| 19 | g.46756502C>G | CA406496546 | FKRP | c.1052C>G (p.Ala351Gly) n.247-5331C>G n.247+7837C>G | |
| 19 | g.46756502C>T | CA406496547 | FKRP | c.1052C>T (p.Ala351Val) n.247-5331C>T n.247+7837C>T | |
| 19 | g.46756503C>A | CA507975776 | FKRP | c.1053C>A (p.Ala351=) n.247-5330C>A n.247+7838C>A | gnomAD v4 |
| 19 | g.46756503C>G | CA507975777 | FKRP | c.1053C>G (p.Ala351=) n.247-5330C>G n.247+7838C>G | |
| 19 | g.46756503C>T | CA507975779 | FKRP | c.1053C>T (p.Ala351=) n.247-5330C>T n.247+7838C>T | gnomAD v4 |
| 19 | g.46756504C>A | CA406496548 | FKRP | c.1054C>A (p.Arg352Ser) n.247-5329C>A n.247+7839C>A | gnomAD v4 |
| 19 | g.46756504C= | CA2339067660 | FKRP | c.1054C= (p.Arg352=) n.247-5329C= n.247+7839C= | |
| 19 | g.46756504C>G | CA406496549 | FKRP | c.1054C>G (p.Arg352Gly) n.247-5329C>G n.247+7839C>G | |
| 19 | g.46756504C>T | CA9532236 | FKRP | c.1054C>T (p.Arg352Cys) n.247-5329C>T n.247+7839C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756505G>A | CA406496550 | FKRP | c.1055G>A (p.Arg352His) n.247-5328G>A n.247+7840G>A | |
| 19 | g.46756505G>C | CA406496551 | FKRP | c.1055G>C (p.Arg352Pro) n.247-5328G>C n.247+7840G>C | ClinVar gnomAD v4 |
| 19 | g.46756505G>T | CA406496552 | FKRP | c.1055G>T (p.Arg352Leu) n.247-5328G>T n.247+7840G>T | gnomAD v4 |
| 19 | g.46756506C>A | CA507975783 | FKRP | c.1056C>A (p.Arg352=) n.247-5327C>A n.247+7841C>A | gnomAD v4 |
| 19 | g.46756506C= | CA2339067661 | FKRP | c.1056C= (p.Arg352=) n.247-5327C= n.247+7841C= | |
| 19 | g.46756506C>G | CA507975785 | FKRP | c.1056C>G (p.Arg352=) n.247-5327C>G n.247+7841C>G | |
| 19 | g.46756506C>T | CA10587342 | FKRP | c.1056C>T (p.Arg352=) n.247-5327C>T n.247+7841C>T | ClinVar dbSNP |
| 19 | g.46756507C>A | CA406496554 | FKRP | c.1057C>A (p.His353Asn) n.247-5326C>A n.247+7842C>A | gnomAD v4 |
| 19 | g.46756507C= | CA2339067662 | FKRP | c.1057C= (p.His353=) n.247-5326C= n.247+7842C= | |
| 19 | g.46756507C>G | CA406496553 | FKRP | c.1057C>G (p.His353Asp) n.247-5326C>G n.247+7842C>G | |
| 19 | g.46756507C>T | CA406496555 | FKRP | c.1057C>T (p.His353Tyr) n.247-5326C>T n.247+7842C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756508A>C | CA406496556 | FKRP | c.1058A>C (p.His353Pro) n.247-5325A>C n.247+7843A>C | |
| 19 | g.46756508A>G | CA406496558 | FKRP | c.1058A>G (p.His353Arg) n.247-5325A>G n.247+7843A>G | |
| 19 | g.46756508A>T | CA406496557 | FKRP | c.1058A>T (p.His353Leu) n.247-5325A>T n.247+7843A>T | |
| 19 | g.46756509C>A | CA309099740 | FKRP | c.1059C>A (p.His353Gln) n.247-5324C>A n.247+7844C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756509C= | CA2339067663 | FKRP | c.1059C= (p.His353=) n.247-5324C= n.247+7844C= | |
| 19 | g.46756509C>G | CA406496559 | FKRP | c.1059C>G (p.His353Gln) n.247-5324C>G n.247+7844C>G | gnomAD v4 |
| 19 | g.46756509C>T | CA309099742 | FKRP | c.1059C>T (p.His353=) n.247-5324C>T n.247+7844C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756510G>A | CA9532237 | FKRP | c.1060G>A (p.Gly354Arg) n.247-5323G>A n.247+7845G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756510G>C | CA406496560 | FKRP | c.1060G>C (p.Gly354Arg) n.247-5323G>C n.247+7845G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756510G= | CA2339067664 | FKRP | c.1060G= (p.Gly354=) n.247-5323G= n.247+7845G= | |
| 19 | g.46756510G>T | CA406496561 | FKRP | c.1060G>T (p.Gly354Trp) n.247-5323G>T n.247+7845G>T | gnomAD v4 |
| 19 | g.46756510_46756511delinsCC | CA2830782554 | FKRP | c.1060_1061delinsCC (p.Gly354Pro) n.247-5323_247-5322delinsCC n.247+7845_247+7846delinsCC | |
| 19 | g.46756513del | CA2553178621 | FKRP | c.1063del (p.Asp355ThrfsTer?) n.247-5320del n.247+7848del | |
| 19 | g.46756511G>A | CA9532238 | FKRP | c.1061G>A (p.Gly354Glu) n.247-5322G>A n.247+7846G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756511G>C | CA406496562 | FKRP | c.1061G>C (p.Gly354Ala) n.247-5322G>C n.247+7846G>C | gnomAD v4 |
| 19 | g.46756511G= | CA2339067665 | FKRP | c.1061G= (p.Gly354=) n.247-5322G= n.247+7846G= | |
| 19 | g.46756511G>T | CA406496563 | FKRP | c.1061G>T (p.Gly354Val) n.247-5322G>T n.247+7846G>T | |
| 19 | g.46756512G>A | CA507975796 | FKRP | c.1062G>A (p.Gly354=) n.247-5321G>A n.247+7847G>A | ClinVar gnomAD v4 |
| 19 | g.46756512G>C | CA507975797 | FKRP | c.1062G>C (p.Gly354=) n.247-5321G>C n.247+7847G>C | |
| 19 | g.46756512G>T | CA507975798 | FKRP | c.1062G>T (p.Gly354=) n.247-5321G>T n.247+7847G>T | |
| 19 | g.46756513G>A | CA406496564 | FKRP | c.1063G>A (p.Asp355Asn) n.247-5320G>A n.247+7848G>A | gnomAD v4 |
| 19 | g.46756513G>C | CA406496565 | FKRP | c.1063G>C (p.Asp355His) n.247-5320G>C n.247+7848G>C | |
| 19 | g.46756513G>T | CA406496566 | FKRP | c.1063G>T (p.Asp355Tyr) n.247-5320G>T n.247+7848G>T | |
| 19 | g.46756514A>C | CA406496567 | FKRP | c.1064A>C (p.Asp355Ala) n.247-5319A>C n.247+7849A>C | |
| 19 | g.46756514A>G | CA406496568 | FKRP | c.1064A>G (p.Asp355Gly) n.247-5319A>G n.247+7849A>G | dbSNP |
| 19 | g.46756514A>T | CA406496569 | FKRP | c.1064A>T (p.Asp355Val) n.247-5319A>T n.247+7849A>T | |
| 19 | g.46756515C>A | CA406496571 | FKRP | c.1065C>A (p.Asp355Glu) n.247-5318C>A n.247+7850C>A | |
| 19 | g.46756515C>G | CA406496570 | FKRP | c.1065C>G (p.Asp355Glu) n.247-5318C>G n.247+7850C>G | |
| 19 | g.46756515C>T | CA507975806 | FKRP | c.1065C>T (p.Asp355=) n.247-5318C>T n.247+7850C>T | ClinVar dbSNP |
| 19 | g.46756516A= | CA2339067666 | FKRP | c.1066A= (p.Ile356=) n.247-5317A= n.247+7851A= | |
| 19 | g.46756516A>C | CA406496572 | FKRP | c.1066A>C (p.Ile356Leu) n.247-5317A>C n.247+7851A>C | |
| 19 | g.46756516A>G | CA406496573 | FKRP | c.1066A>G (p.Ile356Val) n.247-5317A>G n.247+7851A>G | dbSNP gnomAD v4 |
| 19 | g.46756516A>T | CA406496574 | FKRP | c.1066A>T (p.Ile356Phe) n.247-5317A>T n.247+7851A>T | |
| 19 | g.46756517T>A | CA406496575 | FKRP | c.1067T>A (p.Ile356Asn) n.247-5316T>A n.247+7852T>A | |
| 19 | g.46756517T>C | CA406496576 | FKRP | c.1067T>C (p.Ile356Thr) n.247-5316T>C n.247+7852T>C | ClinVar |
| 19 | g.46756517T>G | CA406496577 | FKRP | c.1067T>G (p.Ile356Ser) n.247-5316T>G n.247+7852T>G | |
| 19 | g.46756518C>A | CA507975815 | FKRP | c.1068C>A (p.Ile356=) n.247-5315C>A n.247+7853C>A | |
| 19 | g.46756518C= | CA2339067667 | FKRP | c.1068C= (p.Ile356=) n.247-5315C= n.247+7853C= | |
| 19 | g.46756518C>G | CA406496578 | FKRP | c.1068C>G (p.Ile356Met) n.247-5315C>G n.247+7853C>G | |
| 19 | g.46756518C>T | CA507975810 | FKRP | c.1068C>T (p.Ile356=) n.247-5315C>T n.247+7853C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756519A>C | CA406496579 | FKRP | c.1069A>C (p.Ile357Leu) n.247-5314A>C n.247+7854A>C | |
| 19 | g.46756519A>G | CA406496580 | FKRP | c.1069A>G (p.Ile357Val) n.247-5314A>G n.247+7854A>G | |
| 19 | g.46756519A>T | CA406496581 | FKRP | c.1069A>T (p.Ile357Phe) n.247-5314A>T n.247+7854A>T | |
| 19 | g.46756520T>A | CA406496582 | FKRP | c.1070T>A (p.Ile357Asn) n.247-5313T>A n.247+7855T>A | |
| 19 | g.46756520T>C | CA406496583 | FKRP | c.1070T>C (p.Ile357Thr) n.247-5313T>C n.247+7855T>C | |
| 19 | g.46756520T>G | CA406496584 | FKRP | c.1070T>G (p.Ile357Ser) n.247-5313T>G n.247+7855T>G | |
| 19 | g.46756521C>A | CA507975821 | FKRP | c.1071C>A (p.Ile357=) n.247-5312C>A n.247+7856C>A | gnomAD v4 |
| 19 | g.46756521C>G | CA406496585 | FKRP | c.1071C>G (p.Ile357Met) n.247-5312C>G n.247+7856C>G | |
| 19 | g.46756521C>T | CA507975822 | FKRP | c.1071C>T (p.Ile357=) n.247-5312C>T n.247+7856C>T | |
| 19 | g.46756522_46756523del | CA2585987499 | FKRP | c.1072_1073del (p.Pro358MetfsTer?) n.247-5311_247-5310del n.247+7857_247+7858del | gnomAD v4 |
| 19 | g.46756522C>A | CA406496588 | FKRP | c.1072C>A (p.Pro358Thr) n.247-5311C>A n.247+7857C>A | gnomAD v4 |
| 19 | g.46756522C= | CA2339067668 | FKRP | c.1072C= (p.Pro358=) n.247-5311C= n.247+7857C= | |
| 19 | g.46756522C>G | CA406496586 | FKRP | c.1072C>G (p.Pro358Ala) n.247-5311C>G n.247+7857C>G | |
| 19 | g.46756522C>T | CA406496587 | FKRP | c.1072C>T (p.Pro358Ser) n.247-5311C>T n.247+7857C>T | dbSNP gnomAD v2 |
| 19 | g.46756523C>A | CA406496589 | FKRP | c.1073C>A (p.Pro358Gln) n.247-5310C>A n.247+7858C>A | gnomAD v4 |
| 19 | g.46756523C= | CA2339067669 | FKRP | c.1073C= (p.Pro358=) n.247-5310C= n.247+7858C= | |
| 19 | g.46756523C>G | CA406496590 | FKRP | c.1073C>G (p.Pro358Arg) n.247-5310C>G n.247+7858C>G | |
| 19 | g.46756523C>T | CA234007 | FKRP | c.1073C>T (p.Pro358Leu) n.247-5310C>T n.247+7858C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756524A= | CA2339067670 | FKRP | c.1074A= (p.Pro358=) n.247-5309A= n.247+7859A= | |
| 19 | g.46756524A>C | CA507975828 | FKRP | c.1074A>C (p.Pro358=) n.247-5309A>C n.247+7859A>C | gnomAD v4 |
| 19 | g.46756524A>G | CA507975829 | FKRP | c.1074A>G (p.Pro358=) n.247-5309A>G n.247+7859A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756524A>T | CA507975830 | FKRP | c.1074A>T (p.Pro358=) n.247-5309A>T n.247+7859A>T | |
| 19 | g.46756525del | CA2573156480 | FKRP | c.1075del (p.Trp359GlyfsTer?) n.247-5308del n.247+7860del | ClinVar dbSNP |
| 19 | g.46756525T>A | CA406496593 | FKRP | c.1075T>A (p.Trp359Arg) n.247-5308T>A n.247+7860T>A | |
| 19 | g.46756525T>C | CA406496592 | FKRP | c.1075T>C (p.Trp359Arg) n.247-5308T>C n.247+7860T>C | ClinVar dbSNP |
| 19 | g.46756525T>G | CA406496591 | FKRP | c.1075T>G (p.Trp359Gly) n.247-5308T>G n.247+7860T>G | |
| 19 | g.46756525T= | CA2339067671 | FKRP | c.1075T= (p.Trp359=) n.247-5308T= n.247+7860T= | |
| 19 | g.46756526G>A | CA406496594 | FKRP | c.1076G>A (p.Trp359Ter) n.247-5307G>A n.247+7861G>A | |
| 19 | g.46756526G>C | CA406496595 | FKRP | c.1076G>C (p.Trp359Ser) n.247-5307G>C n.247+7861G>C | |
| 19 | g.46756526G>T | CA406496596 | FKRP | c.1076G>T (p.Trp359Leu) n.247-5307G>T n.247+7861G>T | |
| 19 | g.46756527_46756528dup | CA891844245 | FKRP | c.1077_1078dup (p.Asp360GlyfsTer?) n.247-5306_247-5305dup n.247+7862_247+7863dup | ClinVar dbSNP |
| 19 | g.46756527G>A | CA406496597 | FKRP | c.1077G>A (p.Trp359Ter) n.247-5306G>A n.247+7862G>A | dbSNP |
| 19 | g.46756527G>C | CA406496598 | FKRP | c.1077G>C (p.Trp359Cys) n.247-5306G>C n.247+7862G>C | |
| 19 | g.46756527G= | CA2339067672 | FKRP | c.1077G= (p.Trp359=) n.247-5306G= n.247+7862G= | |
| 19 | g.46756527G>T | CA406496599 | FKRP | c.1077G>T (p.Trp359Cys) n.247-5306G>T n.247+7862G>T | |
| 19 | g.46756528G>A | CA406496600 | FKRP | c.1078G>A (p.Asp360Asn) n.247-5305G>A n.247+7863G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756528G>C | CA9532239 | FKRP | c.1078G>C (p.Asp360His) n.247-5305G>C n.247+7863G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756528G= | CA2339067673 | FKRP | c.1078G= (p.Asp360=) n.247-5305G= n.247+7863G= | |
| 19 | g.46756528G>T | CA406496601 | FKRP | c.1078G>T (p.Asp360Tyr) n.247-5305G>T n.247+7863G>T | dbSNP |
| 19 | g.46756529A= | CA2339067674 | FKRP | c.1079A= (p.Asp360=) n.247-5304A= n.247+7864A= | |
| 19 | g.46756529A>C | CA406496602 | FKRP | c.1079A>C (p.Asp360Ala) n.247-5304A>C n.247+7864A>C | |
| 19 | g.46756529A>G | CA406496603 | FKRP | c.1079A>G (p.Asp360Gly) n.247-5304A>G n.247+7864A>G | |
| 19 | g.46756529A>T | CA9532240 | FKRP | c.1079A>T (p.Asp360Val) n.247-5304A>T n.247+7864A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756530C>A | CA406496604 | FKRP | c.1080C>A (p.Asp360Glu) n.247-5303C>A n.247+7865C>A | gnomAD v4 |
| 19 | g.46756530C>G | CA406496605 | FKRP | c.1080C>G (p.Asp360Glu) n.247-5303C>G n.247+7865C>G | |
| 19 | g.46756530C>T | CA507975990 | FKRP | c.1080C>T (p.Asp360=) n.247-5303C>T n.247+7865C>T | |
| 19 | g.46756531T>A | CA406496606 | FKRP | c.1081T>A (p.Tyr361Asn) n.247-5302T>A n.247+7866T>A | |
| 19 | g.46756531T>C | CA406496607 | FKRP | c.1081T>C (p.Tyr361His) n.247-5302T>C n.247+7866T>C | |
| 19 | g.46756531T>G | CA406496608 | FKRP | c.1081T>G (p.Tyr361Asp) n.247-5302T>G n.247+7866T>G | |
| 19 | g.46756532A= | CA2339067675 | FKRP | c.1082A= (p.Tyr361=) n.247-5301A= n.247+7867A= | |
| 19 | g.46756532A>C | CA309099750 | FKRP | c.1082A>C (p.Tyr361Ser) n.247-5301A>C n.247+7867A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756532A>G | CA406496609 | FKRP | c.1082A>G (p.Tyr361Cys) n.247-5301A>G n.247+7867A>G | |
| 19 | g.46756532A>T | CA406496610 | FKRP | c.1082A>T (p.Tyr361Phe) n.247-5301A>T n.247+7867A>T | |
| 19 | g.46756533del | CA2576826108 | FKRP | c.1083del (p.Tyr361Ter) n.247-5300del n.247+7868del | |
| 19 | g.46756533C>A | CA16616286 | FKRP | c.1083C>A (p.Tyr361Ter) n.247-5300C>A n.247+7868C>A | ClinVar dbSNP |
| 19 | g.46756533C= | CA2339067676 | FKRP | c.1083C= (p.Tyr361=) n.247-5300C= n.247+7868C= | |
| 19 | g.46756533C>G | CA406496611 | FKRP | c.1083C>G (p.Tyr361Ter) n.247-5300C>G n.247+7868C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756533C>T | CA507975995 | FKRP | c.1083C>T (p.Tyr361=) n.247-5300C>T n.247+7868C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756534G>A | CA406496612 | FKRP | c.1084G>A (p.Asp362Asn) n.247-5299G>A n.247+7869G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756534G>C | CA406496614 | FKRP | c.1084G>C (p.Asp362His) n.247-5299G>C n.247+7869G>C | dbSNP |
| 19 | g.46756534G= | CA2339067677 | FKRP | c.1084G= (p.Asp362=) n.247-5299G= n.247+7869G= | |
| 19 | g.46756534G>T | CA406496613 | FKRP | c.1084G>T (p.Asp362Tyr) n.247-5299G>T n.247+7869G>T | |
| 19 | g.46756535A>C | CA406496615 | FKRP | c.1085A>C (p.Asp362Ala) n.247-5298A>C n.247+7870A>C | |
| 19 | g.46756535A>G | CA406496616 | FKRP | c.1085A>G (p.Asp362Gly) n.247-5298A>G n.247+7870A>G | |
| 19 | g.46756535A>T | CA406496617 | FKRP | c.1085A>T (p.Asp362Val) n.247-5298A>T n.247+7870A>T | gnomAD v4 |
| 19 | g.46756536C>A | CA406496618 | FKRP | c.1086C>A (p.Asp362Glu) n.247-5297C>A n.247+7871C>A | ClinVar dbSNP |
| 19 | g.46756536C= | CA2339067678 | FKRP | c.1086C= (p.Asp362=) n.247-5297C= n.247+7871C= | |
| 19 | g.46756536C>G | CA406496619 | FKRP | c.1086C>G (p.Asp362Glu) n.247-5297C>G n.247+7871C>G | |
| 19 | g.46756536C>T | CA9532241 | FKRP | c.1086C>T (p.Asp362=) n.247-5297C>T n.247+7871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756537G>A | CA406496620 | FKRP | c.1087G>A (p.Val363Met) n.247-5296G>A n.247+7872G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756537G>C | CA406496621 | FKRP | c.1087G>C (p.Val363Leu) n.247-5296G>C n.247+7872G>C | |
| 19 | g.46756537G= | CA2339067679 | FKRP | c.1087G= (p.Val363=) n.247-5296G= n.247+7872G= | |
| 19 | g.46756537G>T | CA10605077 | FKRP | c.1087G>T (p.Val363Leu) n.247-5296G>T n.247+7872G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756538T>A | CA406496622 | FKRP | c.1088T>A (p.Val363Glu) n.247-5295T>A n.247+7873T>A | |
| 19 | g.46756538T>C | CA406496623 | FKRP | c.1088T>C (p.Val363Ala) n.247-5295T>C n.247+7873T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756538T>G | CA406496624 | FKRP | c.1088T>G (p.Val363Gly) n.247-5295T>G n.247+7873T>G | gnomAD v4 |
| 19 | g.46756538T= | CA2339067680 | FKRP | c.1088T= (p.Val363=) n.247-5295T= n.247+7873T= | |
| 19 | g.46756539G>A | CA507976010 | FKRP | c.1089G>A (p.Val363=) n.247-5294G>A n.247+7874G>A | gnomAD v4 |
| 19 | g.46756539G>C | CA507976011 | FKRP | c.1089G>C (p.Val363=) n.247-5294G>C n.247+7874G>C | |
| 19 | g.46756539G>T | CA507976012 | FKRP | c.1089G>T (p.Val363=) n.247-5294G>T n.247+7874G>T | |
| 19 | g.46756540G>A | CA406496625 | FKRP | c.1090G>A (p.Asp364Asn) n.247-5293G>A n.247+7875G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756540G>C | CA406496627 | FKRP | c.1090G>C (p.Asp364His) n.247-5293G>C n.247+7875G>C | |
| 19 | g.46756540G= | CA2339067681 | FKRP | c.1090G= (p.Asp364=) n.247-5293G= n.247+7875G= | |
| 19 | g.46756540G>T | CA406496626 | FKRP | c.1090G>T (p.Asp364Tyr) n.247-5293G>T n.247+7875G>T | |
| 19 | g.46756541A>C | CA406496628 | FKRP | c.1091A>C (p.Asp364Ala) n.247-5292A>C n.247+7876A>C | |
| 19 | g.46756541A>G | CA406496629 | FKRP | c.1091A>G (p.Asp364Gly) n.247-5292A>G n.247+7876A>G | |
| 19 | g.46756541A>T | CA406496630 | FKRP | c.1091A>T (p.Asp364Val) n.247-5292A>T n.247+7876A>T | |
| 19 | g.46756542C>A | CA406496631 | FKRP | c.1092C>A (p.Asp364Glu) n.247-5291C>A n.247+7877C>A | |
| 19 | g.46756542C>G | CA406496632 | FKRP | c.1092C>G (p.Asp364Glu) n.247-5291C>G n.247+7877C>G | |
| 19 | g.46756542C>T | CA507976021 | FKRP | c.1092C>T (p.Asp364=) n.247-5291C>T n.247+7877C>T | ClinVar gnomAD v4 |
| 19 | g.46756543C>A | CA406496633 | FKRP | c.1093C>A (p.Leu365Met) n.247-5290C>A n.247+7878C>A | gnomAD v4 |
| 19 | g.46756543C>G | CA406496634 | FKRP | c.1093C>G (p.Leu365Val) n.247-5290C>G n.247+7878C>G | |
| 19 | g.46756543C>T | CA507976025 | FKRP | c.1093C>T (p.Leu365=) n.247-5290C>T n.247+7878C>T | |
| 19 | g.46756544T>A | CA406496635 | FKRP | c.1094T>A (p.Leu365Gln) n.247-5289T>A n.247+7879T>A | |
| 19 | g.46756544T>C | CA406496636 | FKRP | c.1094T>C (p.Leu365Pro) n.247-5289T>C n.247+7879T>C | |
| 19 | g.46756544T>G | CA406496637 | FKRP | c.1094T>G (p.Leu365Arg) n.247-5289T>G n.247+7879T>G | |
| 19 | g.46756545G>A | CA507976028 | FKRP | c.1095G>A (p.Leu365=) n.247-5288G>A n.247+7880G>A | gnomAD v4 |
| 19 | g.46756545G>C | CA507976029 | FKRP | c.1095G>C (p.Leu365=) n.247-5288G>C n.247+7880G>C | |
| 19 | g.46756545G>T | CA507976031 | FKRP | c.1095G>T (p.Leu365=) n.247-5288G>T n.247+7880G>T | gnomAD v4 |