| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46752478_46756014del | CA16616280 | FKRP | c.-39-2934_564del n.246+3813_247-5819del n.247+3813_247+7349del | ClinVar |
| 19 | g.46755926del | CA2585987466 | FKRP | c.476del (p.Pro159ArgfsTer13) c.47del (p.Pro16ArgfsTer13) n.247-5907del n.247+7261del c.476del (p.Pro159ArgfsTer?) | gnomAD v4 |
| 19 | g.46755926C>A | CA406495400 | FKRP | c.476C>A (p.Pro159Gln) c.47C>A (p.Pro16Gln) n.247-5907C>A n.247+7261C>A | gnomAD v4 |
| 19 | g.46755926C= | CA2339067329 | FKRP | c.476C= (p.Pro159=) c.47C= (p.Pro16=) n.247-5907C= n.247+7261C= | |
| 19 | g.46755926C>G | CA406495402 | FKRP | c.476C>G (p.Pro159Arg) c.47C>G (p.Pro16Arg) n.247-5907C>G n.247+7261C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755926C>T | CA406495401 | FKRP | c.476C>T (p.Pro159Leu) c.47C>T (p.Pro16Leu) n.247-5907C>T n.247+7261C>T | gnomAD v4 |
| 19 | g.46755927G>A | CA507975424 | FKRP | c.477G>A (p.Pro159=) c.48G>A (p.Pro16=) n.247-5906G>A n.247+7262G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.46755927G>C | CA507975426 | FKRP | c.477G>C (p.Pro159=) c.48G>C (p.Pro16=) n.247-5906G>C n.247+7262G>C | ClinVar |
| 19 | g.46755927G= | CA2339067332 | FKRP | c.477G= (p.Pro159=) c.48G= (p.Pro16=) n.247-5906G= n.247+7262G= | |
| 19 | g.46755927G>T | CA507975427 | FKRP | c.477G>T (p.Pro159=) c.48G>T (p.Pro16=) n.247-5906G>T n.247+7262G>T | gnomAD v4 |
| 19 | g.46755928G>A | CA406495403 | FKRP | c.478G>A (p.Val160Ile) c.49G>A (p.Val17Ile) n.247-5905G>A n.247+7263G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755928G>C | CA406495404 | FKRP | c.478G>C (p.Val160Leu) c.49G>C (p.Val17Leu) n.247-5905G>C n.247+7263G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755928G= | CA2339067335 | FKRP | c.478G= (p.Val160=) c.49G= (p.Val17=) n.247-5905G= n.247+7263G= | |
| 19 | g.46755928G>T | CA406495405 | FKRP | c.478G>T (p.Val160Phe) c.49G>T (p.Val17Phe) n.247-5905G>T n.247+7263G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755929T>A | CA406495406 | FKRP | c.479T>A (p.Val160Asp) c.50T>A (p.Val17Asp) n.247-5904T>A n.247+7264T>A | |
| 19 | g.46755929T>C | CA406495407 | FKRP | c.479T>C (p.Val160Ala) c.50T>C (p.Val17Ala) n.247-5904T>C n.247+7264T>C | |
| 19 | g.46755929T>G | CA406495408 | FKRP | c.479T>G (p.Val160Gly) c.50T>G (p.Val17Gly) n.247-5904T>G n.247+7264T>G | |
| 19 | g.46755930T>A | CA507975430 | FKRP | c.480T>A (p.Val160=) c.51T>A (p.Val17=) n.247-5903T>A n.247+7265T>A | |
| 19 | g.46755930T>C | CA507975431 | FKRP | c.480T>C (p.Val160=) c.51T>C (p.Val17=) n.247-5903T>C n.247+7265T>C | gnomAD v4 |
| 19 | g.46755930T>G | CA507975432 | FKRP | c.480T>G (p.Val160=) c.51T>G (p.Val17=) n.247-5903T>G n.247+7265T>G | |
| 19 | g.46755931G>A | CA406495409 | FKRP | c.481G>A (p.Ala161Thr) c.52G>A (p.Ala18Thr) n.247-5902G>A n.247+7266G>A | ClinVar gnomAD v4 |
| 19 | g.46755931G>C | CA406495410 | FKRP | c.481G>C (p.Ala161Pro) c.52G>C (p.Ala18Pro) n.247-5902G>C n.247+7266G>C | |
| 19 | g.46755931G>T | CA406495411 | FKRP | c.481G>T (p.Ala161Ser) c.52G>T (p.Ala18Ser) n.247-5902G>T n.247+7266G>T | gnomAD v4 |
| 19 | g.46755932C>A | CA406495412 | FKRP | c.482C>A (p.Ala161Asp) c.53C>A (p.Ala18Asp) n.247-5901C>A n.247+7267C>A | gnomAD v4 |
| 19 | g.46755932C= | CA2339067338 | FKRP | c.482C= (p.Ala161=) c.53C= (p.Ala18=) n.247-5901C= n.247+7267C= | |
| 19 | g.46755932C>G | CA406495413 | FKRP | c.482C>G (p.Ala161Gly) c.53C>G (p.Ala18Gly) n.247-5901C>G n.247+7267C>G | |
| 19 | g.46755932C>T | CA406495414 | FKRP | c.482C>T (p.Ala161Val) c.53C>T (p.Ala18Val) n.247-5901C>T n.247+7267C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755933C>A | CA507975439 | FKRP | c.483C>A (p.Ala161=) c.54C>A (p.Ala18=) n.247-5900C>A n.247+7268C>A | gnomAD v4 |
| 19 | g.46755933C= | CA2339067340 | FKRP | c.483C= (p.Ala161=) c.54C= (p.Ala18=) n.247-5900C= n.247+7268C= | |
| 19 | g.46755933C>G | CA507975440 | FKRP | c.483C>G (p.Ala161=) c.54C>G (p.Ala18=) n.247-5900C>G n.247+7268C>G | |
| 19 | g.46755933C>T | CA206471 | FKRP | c.483C>T (p.Ala161=) c.54C>T (p.Ala18=) n.247-5900C>T n.247+7268C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755934A>C | CA406495415 | FKRP | c.484A>C (p.Thr162Pro) c.55A>C (p.Thr19Pro) n.247-5899A>C n.247+7269A>C | |
| 19 | g.46755934A>G | CA406495417 | FKRP | c.484A>G (p.Thr162Ala) c.55A>G (p.Thr19Ala) n.247-5899A>G n.247+7269A>G | ClinVar |
| 19 | g.46755934A>T | CA406495416 | FKRP | c.484A>T (p.Thr162Ser) c.55A>T (p.Thr19Ser) n.247-5899A>T n.247+7269A>T | |
| 19 | g.46755935C>A | CA406495418 | FKRP | c.485C>A (p.Thr162Lys) c.56C>A (p.Thr19Lys) n.247-5898C>A n.247+7270C>A | gnomAD v4 |
| 19 | g.46755935C= | CA2339067341 | FKRP | c.485C= (p.Thr162=) c.56C= (p.Thr19=) n.247-5898C= n.247+7270C= | |
| 19 | g.46755935C>G | CA406495419 | FKRP | c.485C>G (p.Thr162Arg) c.56C>G (p.Thr19Arg) n.247-5898C>G n.247+7270C>G | gnomAD v4 |
| 19 | g.46755935C>T | CA406495420 | FKRP | c.485C>T (p.Thr162Met) c.56C>T (p.Thr19Met) n.247-5898C>T n.247+7270C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755936G>A | CA9532155 | FKRP | c.486G>A (p.Thr162=) c.57G>A (p.Thr19=) n.247-5897G>A n.247+7271G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755936G>C | CA507975449 | FKRP | c.486G>C (p.Thr162=) c.57G>C (p.Thr19=) n.247-5897G>C n.247+7271G>C | |
| 19 | g.46755936G= | CA2339067343 | FKRP | c.486G= (p.Thr162=) c.57G= (p.Thr19=) n.247-5897G= n.247+7271G= | |
| 19 | g.46755936G>T | CA507975450 | FKRP | c.486G>T (p.Thr162=) c.57G>T (p.Thr19=) n.247-5897G>T n.247+7271G>T | gnomAD v4 |
| 19 | g.46755937G>A | CA309099311 | FKRP | c.487G>A (p.Ala163Thr) c.58G>A (p.Ala20Thr) n.247-5896G>A n.247+7272G>A c.487G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755937G>C | CA406495421 | FKRP | c.487G>C (p.Ala163Pro) c.58G>C (p.Ala20Pro) n.247-5896G>C n.247+7272G>C c.487G>C | |
| 19 | g.46755937G= | CA2339067345 | FKRP | c.487G= (p.Ala163=) c.58G= (p.Ala20=) n.247-5896G= n.247+7272G= c.487G= | |
| 19 | g.46755937G>T | CA406495422 | FKRP | c.487G>T (p.Ala163Ser) c.58G>T (p.Ala20Ser) n.247-5896G>T n.247+7272G>T c.487G>T | gnomAD v4 |
| 19 | g.46755938C>A | CA406495423 | FKRP | c.488C>A (p.Ala163Asp) c.59C>A (p.Ala20Asp) n.247-5895C>A n.247+7273C>A | gnomAD v4 |
| 19 | g.46755938C>G | CA406495424 | FKRP | c.488C>G (p.Ala163Gly) c.59C>G (p.Ala20Gly) n.247-5895C>G n.247+7273C>G | ClinVar dbSNP |
| 19 | g.46755938C>T | CA406495425 | FKRP | c.488C>T (p.Ala163Val) c.59C>T (p.Ala20Val) n.247-5895C>T n.247+7273C>T | gnomAD v4 |
| 19 | g.46755939C>A | CA507975454 | FKRP | c.489C>A (p.Ala163=) c.60C>A (p.Ala20=) n.247-5894C>A n.247+7274C>A | dbSNP gnomAD v4 |
| 19 | g.46755939C= | CA2339067346 | FKRP | c.489C= (p.Ala163=) c.60C= (p.Ala20=) n.247-5894C= n.247+7274C= | |
| 19 | g.46755939C>G | CA507975455 | FKRP | c.489C>G (p.Ala163=) c.60C>G (p.Ala20=) n.247-5894C>G n.247+7274C>G | |
| 19 | g.46755939C>T | CA507975456 | FKRP | c.489C>T (p.Ala163=) c.60C>T (p.Ala20=) n.247-5894C>T n.247+7274C>T | gnomAD v4 |
| 19 | g.46755940A>C | CA406495426 | FKRP | c.490A>C (p.Asn164His) c.61A>C (p.Asn21His) n.247-5893A>C n.247+7275A>C | |
| 19 | g.46755940A>G | CA406495428 | FKRP | c.490A>G (p.Asn164Asp) c.61A>G (p.Asn21Asp) n.247-5893A>G n.247+7275A>G | gnomAD v4 |
| 19 | g.46755940A>T | CA406495427 | FKRP | c.490A>T (p.Asn164Tyr) c.61A>T (p.Asn21Tyr) n.247-5893A>T n.247+7275A>T | |
| 19 | g.46755941A= | CA2339067348 | FKRP | c.491A= (p.Asn164=) c.62A= (p.Asn21=) n.247-5892A= n.247+7276A= | |
| 19 | g.46755941A>C | CA406495429 | FKRP | c.491A>C (p.Asn164Thr) c.62A>C (p.Asn21Thr) n.247-5892A>C n.247+7276A>C | |
| 19 | g.46755941A>G | CA309099314 | FKRP | c.491A>G (p.Asn164Ser) c.62A>G (p.Asn21Ser) n.247-5892A>G n.247+7276A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755941A>T | CA406495430 | FKRP | c.491A>T (p.Asn164Ile) c.62A>T (p.Asn21Ile) n.247-5892A>T n.247+7276A>T | COSMIC |
| 19 | g.46755942C>A | CA406495431 | FKRP | c.492C>A (p.Asn164Lys) c.63C>A (p.Asn21Lys) n.247-5891C>A n.247+7277C>A | gnomAD v4 |
| 19 | g.46755942C>G | CA406495432 | FKRP | c.492C>G (p.Asn164Lys) c.63C>G (p.Asn21Lys) n.247-5891C>G n.247+7277C>G | |
| 19 | g.46755942C>T | CA507975466 | FKRP | c.492C>T (p.Asn164=) c.63C>T (p.Asn21=) n.247-5891C>T n.247+7277C>T | |
| 19 | g.46755943C>A | CA406495433 | FKRP | c.493C>A (p.Pro165Thr) c.64C>A (p.Pro22Thr) n.247-5890C>A n.247+7278C>A | gnomAD v4 |
| 19 | g.46755943C= | CA2339067351 | FKRP | c.493C= (p.Pro165=) c.64C= (p.Pro22=) n.247-5890C= n.247+7278C= | |
| 19 | g.46755943C>G | CA406495434 | FKRP | c.493C>G (p.Pro165Ala) c.64C>G (p.Pro22Ala) n.247-5890C>G n.247+7278C>G | |
| 19 | g.46755943C>T | CA309099316 | FKRP | c.493C>T (p.Pro165Ser) c.64C>T (p.Pro22Ser) n.247-5890C>T n.247+7278C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755944C>A | CA406495435 | FKRP | c.494C>A (p.Pro165His) c.65C>A (p.Pro22His) n.247-5889C>A n.247+7279C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755944C= | CA2339067353 | FKRP | c.494C= (p.Pro165=) c.65C= (p.Pro22=) n.247-5889C= n.247+7279C= | |
| 19 | g.46755944C>G | CA406495436 | FKRP | c.494C>G (p.Pro165Arg) c.65C>G (p.Pro22Arg) n.247-5889C>G n.247+7279C>G | |
| 19 | g.46755944C>T | CA406495437 | FKRP | c.494C>T (p.Pro165Leu) c.65C>T (p.Pro22Leu) n.247-5889C>T n.247+7279C>T | gnomAD v4 |
| 19 | g.46755945T>A | CA507975473 | FKRP | c.495T>A (p.Pro165=) c.66T>A (p.Pro22=) n.247-5888T>A n.247+7280T>A | |
| 19 | g.46755945T>C | CA507975475 | FKRP | c.495T>C (p.Pro165=) c.66T>C (p.Pro22=) n.247-5888T>C n.247+7280T>C | |
| 19 | g.46755945T>G | CA507975474 | FKRP | c.495T>G (p.Pro165=) c.66T>G (p.Pro22=) n.247-5888T>G n.247+7280T>G | |
| 19 | g.46755946G>A | CA406495440 | FKRP | c.496G>A (p.Ala166Thr) c.67G>A (p.Ala23Thr) n.247-5887G>A n.247+7281G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755946G>C | CA406495439 | FKRP | c.496G>C (p.Ala166Pro) c.67G>C (p.Ala23Pro) n.247-5887G>C n.247+7281G>C | gnomAD v4 |
| 19 | g.46755946G= | CA2339067355 | FKRP | c.496G= (p.Ala166=) c.67G= (p.Ala23=) n.247-5887G= n.247+7281G= | |
| 19 | g.46755946G>T | CA406495438 | FKRP | c.496G>T (p.Ala166Ser) c.67G>T (p.Ala23Ser) n.247-5887G>T n.247+7281G>T | gnomAD v4 |
| 19 | g.46755947C>A | CA406495441 | FKRP | c.497C>A (p.Ala166Asp) c.68C>A (p.Ala23Asp) n.247-5886C>A n.247+7282C>A | gnomAD v4 |
| 19 | g.46755947C= | CA2339067357 | FKRP | c.497C= (p.Ala166=) c.68C= (p.Ala23=) n.247-5886C= n.247+7282C= | |
| 19 | g.46755947C>G | CA406495442 | FKRP | c.497C>G (p.Ala166Gly) c.68C>G (p.Ala23Gly) n.247-5886C>G n.247+7282C>G | ClinVar |
| 19 | g.46755947C>T | CA406495443 | FKRP | c.497C>T (p.Ala166Val) c.68C>T (p.Ala23Val) n.247-5886C>T n.247+7282C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755948del | CA2585987467 | FKRP | c.498del (p.Arg167GlyfsTer5) c.69del (p.Arg24GlyfsTer5) n.247-5885del n.247+7283del | gnomAD v4 |
| 19 | g.46755948C>A | CA507975479 | FKRP | c.498C>A (p.Ala166=) c.69C>A (p.Ala23=) n.247-5885C>A n.247+7283C>A | gnomAD v4 |
| 19 | g.46755948C= | CA2339067359 | FKRP | c.498C= (p.Ala166=) c.69C= (p.Ala23=) n.247-5885C= n.247+7283C= | |
| 19 | g.46755948C>G | CA507975480 | FKRP | c.498C>G (p.Ala166=) c.69C>G (p.Ala23=) n.247-5885C>G n.247+7283C>G | |
| 19 | g.46755948C>T | CA9532156 | FKRP | c.498C>T (p.Ala166=) c.69C>T (p.Ala23=) n.247-5885C>T n.247+7283C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46755949A>C | CA507975483 | FKRP | c.499A>C (p.Arg167=) c.70A>C (p.Arg24=) n.247-5884A>C n.247+7284A>C | |
| 19 | g.46755949A>G | CA406495444 | FKRP | c.499A>G (p.Arg167Gly) c.70A>G (p.Arg24Gly) n.247-5884A>G n.247+7284A>G | |
| 19 | g.46755949A>T | CA406495445 | FKRP | c.499A>T (p.Arg167Trp) c.70A>T (p.Arg24Trp) n.247-5884A>T n.247+7284A>T | |
| 19 | g.46755950G>A | CA406495446 | FKRP | c.500G>A (p.Arg167Lys) c.71G>A (p.Arg24Lys) n.247-5883G>A n.247+7285G>A | |
| 19 | g.46755950G>C | CA406495448 | FKRP | c.500G>C (p.Arg167Thr) c.71G>C (p.Arg24Thr) n.247-5883G>C n.247+7285G>C | |
| 19 | g.46755950G>T | CA406495447 | FKRP | c.500G>T (p.Arg167Met) c.71G>T (p.Arg24Met) n.247-5883G>T n.247+7285G>T | gnomAD v4 |
| 19 | g.46755951G>A | CA507975486 | FKRP | c.501G>A (p.Arg167=) c.72G>A (p.Arg24=) n.247-5882G>A n.247+7286G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755951G>C | CA406495449 | FKRP | c.501G>C (p.Arg167Ser) c.72G>C (p.Arg24Ser) n.247-5882G>C n.247+7286G>C | dbSNP gnomAD v4 |
| 19 | g.46755951G= | CA2339067361 | FKRP | c.501G= (p.Arg167=) c.72G= (p.Arg24=) n.247-5882G= n.247+7286G= | |
| 19 | g.46755951G>T | CA406495450 | FKRP | c.501G>T (p.Arg167Ser) c.72G>T (p.Arg24Ser) n.247-5882G>T n.247+7286G>T | |
| 19 | g.46755951_46755952delinsCC | CA2573156475 | FKRP | c.501_502delinsCC (p.Arg167_Cys168delinsSerArg) c.72_73delinsCC (p.Arg24_Cys25delinsSerArg) n.247-5882_247-5881delinsCC n.247+7286_247+7287delinsCC | ClinVar dbSNP |
| 19 | g.46755952T>A | CA406495451 | FKRP | c.502T>A (p.Cys168Ser) c.73T>A (p.Cys25Ser) n.247-5881T>A n.247+7287T>A | |
| 19 | g.46755952T>C | CA406495452 | FKRP | c.502T>C (p.Cys168Arg) c.73T>C (p.Cys25Arg) n.247-5881T>C n.247+7287T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755952T>G | CA406495453 | FKRP | c.502T>G (p.Cys168Gly) c.73T>G (p.Cys25Gly) n.247-5881T>G n.247+7287T>G | |
| 19 | g.46755952T= | CA2339067364 | FKRP | c.502T= (p.Cys168=) c.73T= (p.Cys25=) n.247-5881T= n.247+7287T= | |
| 19 | g.46755953G>A | CA406495454 | FKRP | c.503G>A (p.Cys168Tyr) c.74G>A (p.Cys25Tyr) n.247-5880G>A n.247+7288G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755953G>C | CA406495455 | FKRP | c.503G>C (p.Cys168Ser) c.74G>C (p.Cys25Ser) n.247-5880G>C n.247+7288G>C | |
| 19 | g.46755953G= | CA2339067365 | FKRP | c.503G= (p.Cys168=) c.74G= (p.Cys25=) n.247-5880G= n.247+7288G= | |
| 19 | g.46755953G>T | CA309099318 | FKRP | c.503G>T (p.Cys168Phe) c.74G>T (p.Cys25Phe) n.247-5880G>T n.247+7288G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755954C>A | CA406495456 | FKRP | c.504C>A (p.Cys168Ter) c.75C>A (p.Cys25Ter) n.247-5879C>A n.247+7289C>A | gnomAD v4 |
| 19 | g.46755954C>G | CA406495457 | FKRP | c.504C>G (p.Cys168Trp) c.75C>G (p.Cys25Trp) n.247-5879C>G n.247+7289C>G | |
| 19 | g.46755954C>T | CA507975493 | FKRP | c.504C>T (p.Cys168=) c.75C>T (p.Cys25=) n.247-5879C>T n.247+7289C>T | gnomAD v4 |
| 19 | g.46755955C>A | CA406495458 | FKRP | c.505C>A (p.Leu169Met) c.76C>A (p.Leu26Met) n.247-5878C>A n.247+7290C>A | gnomAD v4 |
| 19 | g.46755955C>G | CA406495459 | FKRP | c.505C>G (p.Leu169Val) c.76C>G (p.Leu26Val) n.247-5878C>G n.247+7290C>G | |
| 19 | g.46755955C>T | CA507975496 | FKRP | c.505C>T (p.Leu169=) c.76C>T (p.Leu26=) n.247-5878C>T n.247+7290C>T | |
| 19 | g.46755956T>A | CA406495462 | FKRP | c.506T>A (p.Leu169Gln) c.77T>A (p.Leu26Gln) n.247-5877T>A n.247+7291T>A | |
| 19 | g.46755956T>C | CA406495460 | FKRP | c.506T>C (p.Leu169Pro) c.77T>C (p.Leu26Pro) n.247-5877T>C n.247+7291T>C | gnomAD v4 |
| 19 | g.46755956T>G | CA406495461 | FKRP | c.506T>G (p.Leu169Arg) c.77T>G (p.Leu26Arg) n.247-5877T>G n.247+7291T>G | gnomAD v4 |
| 19 | g.46755957G>A | CA507975498 | FKRP | c.507G>A (p.Leu169=) c.78G>A (p.Leu26=) n.247-5876G>A n.247+7292G>A | |
| 19 | g.46755957G>C | CA507975500 | FKRP | c.507G>C (p.Leu169=) c.78G>C (p.Leu26=) n.247-5876G>C n.247+7292G>C | |
| 19 | g.46755957G>T | CA507975499 | FKRP | c.507G>T (p.Leu169=) c.78G>T (p.Leu26=) n.247-5876G>T n.247+7292G>T | gnomAD v4 |
| 19 | g.46755957_46755970delinsGGCCCTGAACGTCA | CA2339067366 | FKRP | c.507_520delinsGGCCCTGAACGTCA (p.Leu169=) c.78_91delinsGGCCCTGAACGTCA (p.Leu26=) n.247-5876_247-5863delinsGGCCCTGAACGTCA n.247+7292_247+7305delinsGGCCCTGAACGTCA | |
| 19 | g.46755958G>A | CA406495463 | FKRP | c.508G>A (p.Ala170Thr) c.79G>A (p.Ala27Thr) n.247-5875G>A n.247+7293G>A | |
| 19 | g.46755958G>C | CA406495464 | FKRP | c.508G>C (p.Ala170Pro) c.79G>C (p.Ala27Pro) n.247-5875G>C n.247+7293G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755958G= | CA2339067367 | FKRP | c.508G= (p.Ala170=) c.79G= (p.Ala27=) n.247-5875G= n.247+7293G= | |
| 19 | g.46755958G>T | CA406495465 | FKRP | c.508G>T (p.Ala170Ser) c.79G>T (p.Ala27Ser) n.247-5875G>T n.247+7293G>T | gnomAD v4 |
| 19 | g.46755961_46755973del | CA882849400 | FKRP | c.511_523del (p.Leu171CysfsTer?) c.82_94del (p.Leu28CysfsTer?) n.247-5872_247-5860del n.247+7296_247+7308del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755959C>A | CA406495466 | FKRP | c.509C>A (p.Ala170Asp) c.80C>A (p.Ala27Asp) n.247-5874C>A n.247+7294C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755959C= | CA2339067369 | FKRP | c.509C= (p.Ala170=) c.80C= (p.Ala27=) n.247-5874C= n.247+7294C= | |
| 19 | g.46755959C>G | CA406495467 | FKRP | c.509C>G (p.Ala170Gly) c.80C>G (p.Ala27Gly) n.247-5874C>G n.247+7294C>G | |
| 19 | g.46755959C>T | CA406495468 | FKRP | c.509C>T (p.Ala170Val) c.80C>T (p.Ala27Val) n.247-5874C>T n.247+7294C>T | |
| 19 | g.46755960C>A | CA507975506 | FKRP | c.510C>A (p.Ala170=) c.81C>A (p.Ala27=) n.247-5873C>A n.247+7295C>A | |
| 19 | g.46755960C= | CA2339067371 | FKRP | c.510C= (p.Ala170=) c.81C= (p.Ala27=) n.247-5873C= n.247+7295C= | |
| 19 | g.46755960C>G | CA309099321 | FKRP | c.510C>G (p.Ala170=) c.81C>G (p.Ala27=) n.247-5873C>G n.247+7295C>G | dbSNP |
| 19 | g.46755960C>T | CA507975507 | FKRP | c.510C>T (p.Ala170=) c.81C>T (p.Ala27=) n.247-5873C>T n.247+7295C>T | |
| 19 | g.46755961C>A | CA406495469 | FKRP | c.511C>A (p.Leu171Met) c.82C>A (p.Leu28Met) n.247-5872C>A n.247+7296C>A | gnomAD v4 |
| 19 | g.46755961C= | CA2339067373 | FKRP | c.511C= (p.Leu171=) c.82C= (p.Leu28=) n.247-5872C= n.247+7296C= | |
| 19 | g.46755961C>G | CA9532157 | FKRP | c.511C>G (p.Leu171Val) c.82C>G (p.Leu28Val) n.247-5872C>G n.247+7296C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46755961C>T | CA507975509 | FKRP | c.511C>T (p.Leu171=) c.82C>T (p.Leu28=) n.247-5872C>T n.247+7296C>T | ClinVar dbSNP |
| 19 | g.46755962T>A | CA406495470 | FKRP | c.512T>A (p.Leu171Gln) c.83T>A (p.Leu28Gln) n.247-5871T>A n.247+7297T>A | gnomAD v4 |
| 19 | g.46755962T>C | CA406495471 | FKRP | c.512T>C (p.Leu171Pro) c.83T>C (p.Leu28Pro) n.247-5871T>C n.247+7297T>C | gnomAD v4 |
| 19 | g.46755962T>G | CA406495472 | FKRP | c.512T>G (p.Leu171Arg) c.83T>G (p.Leu28Arg) n.247-5871T>G n.247+7297T>G | |
| 19 | g.46755963G>A | CA309099325 | FKRP | c.513G>A (p.Leu171=) c.84G>A (p.Leu28=) n.247-5870G>A n.247+7298G>A | dbSNP gnomAD v4 |
| 19 | g.46755963G>C | CA507975513 | FKRP | c.513G>C (p.Leu171=) c.84G>C (p.Leu28=) n.247-5870G>C n.247+7298G>C | |
| 19 | g.46755963G= | CA2339067376 | FKRP | c.513G= (p.Leu171=) c.84G= (p.Leu28=) n.247-5870G= n.247+7298G= | |
| 19 | g.46755963G>T | CA507975514 | FKRP | c.513G>T (p.Leu171=) c.84G>T (p.Leu28=) n.247-5870G>T n.247+7298G>T | gnomAD v4 |
| 19 | g.46755964A>C | CA406495473 | FKRP | c.514A>C (p.Asn172His) c.85A>C (p.Asn29His) n.247-5869A>C n.247+7299A>C | |
| 19 | g.46755964A>G | CA406495474 | FKRP | c.514A>G (p.Asn172Asp) c.85A>G (p.Asn29Asp) n.247-5869A>G n.247+7299A>G | |
| 19 | g.46755964A>T | CA406495475 | FKRP | c.514A>T (p.Asn172Tyr) c.85A>T (p.Asn29Tyr) n.247-5869A>T n.247+7299A>T | |
| 19 | g.46755965dup | CA2499225522 | FKRP | c.515dup (p.Asn172LysfsTer?) c.86dup (p.Asn29LysfsTer?) n.247-5868dup n.247+7300dup | ClinVar dbSNP |
| 19 | g.46755965A>C | CA406495476 | FKRP | c.515A>C (p.Asn172Thr) c.86A>C (p.Asn29Thr) n.247-5868A>C n.247+7300A>C | |
| 19 | g.46755965A>G | CA406495478 | FKRP | c.515A>G (p.Asn172Ser) c.86A>G (p.Asn29Ser) n.247-5868A>G n.247+7300A>G | gnomAD v4 |
| 19 | g.46755965A>T | CA406495477 | FKRP | c.515A>T (p.Asn172Ile) c.86A>T (p.Asn29Ile) n.247-5868A>T n.247+7300A>T | |
| 19 | g.46755966C>A | CA406495479 | FKRP | c.516C>A (p.Asn172Lys) c.87C>A (p.Asn29Lys) n.247-5867C>A n.247+7301C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755966C= | CA2339067378 | FKRP | c.516C= (p.Asn172=) c.87C= (p.Asn29=) n.247-5867C= n.247+7301C= | |
| 19 | g.46755966C>G | CA406495480 | FKRP | c.516C>G (p.Asn172Lys) c.87C>G (p.Asn29Lys) n.247-5867C>G n.247+7301C>G | |
| 19 | g.46755966C>T | CA309099328 | FKRP | c.516C>T (p.Asn172=) c.87C>T (p.Asn29=) n.247-5867C>T n.247+7301C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755967G>A | CA406495481 | FKRP | c.517G>A (p.Val173Ile) c.88G>A (p.Val30Ile) n.247-5866G>A n.247+7302G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755967G>C | CA406495482 | FKRP | c.517G>C (p.Val173Leu) c.88G>C (p.Val30Leu) n.247-5866G>C n.247+7302G>C | dbSNP |
| 19 | g.46755967G= | CA2339067381 | FKRP | c.517G= (p.Val173=) c.88G= (p.Val30=) n.247-5866G= n.247+7302G= | |
| 19 | g.46755967G>T | CA406495483 | FKRP | c.517G>T (p.Val173Phe) c.88G>T (p.Val30Phe) n.247-5866G>T n.247+7302G>T | gnomAD v4 |
| 19 | g.46755968T>A | CA406495484 | FKRP | c.518T>A (p.Val173Asp) c.89T>A (p.Val30Asp) n.247-5865T>A n.247+7303T>A | |
| 19 | g.46755968T>C | CA406495485 | FKRP | c.518T>C (p.Val173Ala) c.89T>C (p.Val30Ala) n.247-5865T>C n.247+7303T>C | |
| 19 | g.46755968T>G | CA406495486 | FKRP | c.518T>G (p.Val173Gly) c.89T>G (p.Val30Gly) n.247-5865T>G n.247+7303T>G | |
| 19 | g.46755969C>A | CA507975525 | FKRP | c.519C>A (p.Val173=) c.90C>A (p.Val30=) n.247-5864C>A n.247+7304C>A | gnomAD v4 |
| 19 | g.46755969C>G | CA507975526 | FKRP | c.519C>G (p.Val173=) c.90C>G (p.Val30=) n.247-5864C>G n.247+7304C>G | |
| 19 | g.46755969C>T | CA507975527 | FKRP | c.519C>T (p.Val173=) c.90C>T (p.Val30=) n.247-5864C>T n.247+7304C>T | gnomAD v4 |
| 19 | g.46755970A= | CA2339067383 | FKRP | c.520A= (p.Ser174=) c.91A= (p.Ser31=) n.247-5863A= n.247+7305A= | |
| 19 | g.46755970A>C | CA406495487 | FKRP | c.520A>C (p.Ser174Arg) c.91A>C (p.Ser31Arg) n.247-5863A>C n.247+7305A>C | gnomAD v4 |
| 19 | g.46755970A>G | CA406495488 | FKRP | c.520A>G (p.Ser174Gly) c.91A>G (p.Ser31Gly) n.247-5863A>G n.247+7305A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755970A>T | CA200251 | FKRP | c.520A>T (p.Ser174Cys) c.91A>T (p.Ser31Cys) n.247-5863A>T n.247+7305A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755971G>A | CA406495489 | FKRP | c.521G>A (p.Ser174Asn) c.92G>A (p.Ser31Asn) n.247-5862G>A n.247+7306G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755971G>C | CA406495491 | FKRP | c.521G>C (p.Ser174Thr) c.92G>C (p.Ser31Thr) n.247-5862G>C n.247+7306G>C | |
| 19 | g.46755971G= | CA2339067385 | FKRP | c.521G= (p.Ser174=) c.92G= (p.Ser31=) n.247-5862G= n.247+7306G= | |
| 19 | g.46755971G>T | CA406495490 | FKRP | c.521G>T (p.Ser174Ile) c.92G>T (p.Ser31Ile) n.247-5862G>T n.247+7306G>T | gnomAD v4 |
| 19 | g.46755972C>A | CA406495492 | FKRP | c.522C>A (p.Ser174Arg) c.93C>A (p.Ser31Arg) n.247-5861C>A n.247+7307C>A | gnomAD v4 |
| 19 | g.46755972C= | CA2339067388 | FKRP | c.522C= (p.Ser174=) c.93C= (p.Ser31=) n.247-5861C= n.247+7307C= | |
| 19 | g.46755972C>G | CA406495493 | FKRP | c.522C>G (p.Ser174Arg) c.93C>G (p.Ser31Arg) n.247-5861C>G n.247+7307C>G | |
| 19 | g.46755972C>T | CA507975531 | FKRP | c.522C>T (p.Ser174=) c.93C>T (p.Ser31=) n.247-5861C>T n.247+7307C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755973C>A | CA406495494 | FKRP | c.523C>A (p.Leu175Met) c.94C>A (p.Leu32Met) n.247-5860C>A n.247+7308C>A | gnomAD v4 |
| 19 | g.46755973C= | CA2339067390 | FKRP | c.523C= (p.Leu175=) c.94C= (p.Leu32=) n.247-5860C= n.247+7308C= | |
| 19 | g.46755973C>G | CA406495495 | FKRP | c.523C>G (p.Leu175Val) c.94C>G (p.Leu32Val) n.247-5860C>G n.247+7308C>G | |
| 19 | g.46755973C>T | CA507975533 | FKRP | c.523C>T (p.Leu175=) c.94C>T (p.Leu32=) n.247-5860C>T n.247+7308C>T | dbSNP |
| 19 | g.46755974T>A | CA406495496 | FKRP | c.524T>A (p.Leu175Gln) c.95T>A (p.Leu32Gln) n.247-5859T>A n.247+7309T>A | |
| 19 | g.46755974T>C | CA406495497 | FKRP | c.524T>C (p.Leu175Pro) c.95T>C (p.Leu32Pro) n.247-5859T>C n.247+7309T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755974T>G | CA406495498 | FKRP | c.524T>G (p.Leu175Arg) c.95T>G (p.Leu32Arg) n.247-5859T>G n.247+7309T>G | |
| 19 | g.46755974T= | CA2339067392 | FKRP | c.524T= (p.Leu175=) c.95T= (p.Leu32=) n.247-5859T= n.247+7309T= | |
| 19 | g.46755975G>A | CA507975537 | FKRP | c.525G>A (p.Leu175=) c.96G>A (p.Leu32=) n.247-5858G>A n.247+7310G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755975G>C | CA507975539 | FKRP | c.525G>C (p.Leu175=) c.96G>C (p.Leu32=) n.247-5858G>C n.247+7310G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755975G= | CA2339067394 | FKRP | c.525G= (p.Leu175=) c.96G= (p.Leu32=) n.247-5858G= n.247+7310G= | |
| 19 | g.46755975G>T | CA507975542 | FKRP | c.525G>T (p.Leu175=) c.96G>T (p.Leu32=) n.247-5858G>T n.247+7310G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755976C>A | CA507975549 | FKRP | c.526C>A (p.Arg176=) c.97C>A (p.Arg33=) n.247-5857C>A n.247+7311C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755976C= | CA2339067396 | FKRP | c.526C= (p.Arg176=) c.97C= (p.Arg33=) n.247-5857C= n.247+7311C= | |
| 19 | g.46755976C>G | CA406495499 | FKRP | c.526C>G (p.Arg176Gly) c.97C>G (p.Arg33Gly) n.247-5857C>G n.247+7311C>G | ClinVar |
| 19 | g.46755976C>T | CA406495500 | FKRP | c.526C>T (p.Arg176Ter) c.97C>T (p.Arg33Ter) n.247-5857C>T n.247+7311C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755977G>A | CA9532158 | FKRP | c.527G>A (p.Arg176Gln) c.98G>A (p.Arg33Gln) n.247-5856G>A n.247+7312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46755977G>C | CA406495501 | FKRP | c.527G>C (p.Arg176Pro) c.98G>C (p.Arg33Pro) n.247-5856G>C n.247+7312G>C | gnomAD v4 |
| 19 | g.46755977G= | CA2339067398 | FKRP | c.527G= (p.Arg176=) c.98G= (p.Arg33=) n.247-5856G= n.247+7312G= | |
| 19 | g.46755977G>T | CA406495502 | FKRP | c.527G>T (p.Arg176Leu) c.98G>T (p.Arg33Leu) n.247-5856G>T n.247+7312G>T | gnomAD v4 |
| 19 | g.46755978A>C | CA507975558 | FKRP | c.528A>C (p.Arg176=) c.99A>C (p.Arg33=) n.247-5855A>C n.247+7313A>C | |
| 19 | g.46755978A>G | CA507975565 | FKRP | c.528A>G (p.Arg176=) c.99A>G (p.Arg33=) n.247-5855A>G n.247+7313A>G | |
| 19 | g.46755978A>T | CA507975566 | FKRP | c.528A>T (p.Arg176=) c.99A>T (p.Arg33=) n.247-5855A>T n.247+7313A>T | |
| 19 | g.46755978_46755996del | CA2585987468 | FKRP | c.528_546del (p.Glu177AlafsTer?) n.247-5855_247-5837del n.247+7313_247+7331del | gnomAD v4 |
| 19 | g.46755979G>A | CA295343 | FKRP | c.529G>A (p.Glu177Lys) c.100G>A (p.Glu34Lys) n.247-5854G>A n.247+7314G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755979G>C | CA406495504 | FKRP | c.529G>C (p.Glu177Gln) c.100G>C (p.Glu34Gln) n.247-5854G>C n.247+7314G>C | dbSNP |
| 19 | g.46755979G= | CA2339067400 | FKRP | c.529G= (p.Glu177=) c.100G= (p.Glu34=) n.247-5854G= n.247+7314G= | |
| 19 | g.46755979G>T | CA406495503 | FKRP | c.529G>T (p.Glu177Ter) c.100G>T (p.Glu34Ter) n.247-5854G>T n.247+7314G>T | |
| 19 | g.46755980A= | CA2339067401 | FKRP | c.530A= (p.Glu177=) c.101A= (p.Glu34=) n.247-5853A= n.247+7315A= | |
| 19 | g.46755980A>C | CA406495505 | FKRP | c.530A>C (p.Glu177Ala) c.101A>C (p.Glu34Ala) n.247-5853A>C n.247+7315A>C | |
| 19 | g.46755980A>G | CA406495506 | FKRP | c.530A>G (p.Glu177Gly) c.101A>G (p.Glu34Gly) n.247-5853A>G n.247+7315A>G | dbSNP |
| 19 | g.46755980A>T | CA406495507 | FKRP | c.530A>T (p.Glu177Val) c.101A>T (p.Glu34Val) n.247-5853A>T n.247+7315A>T | |
| 19 | g.46755981G>A | CA9532159 | FKRP | c.531G>A (p.Glu177=) c.102G>A (p.Glu34=) n.247-5852G>A n.247+7316G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755981G>C | CA406495508 | FKRP | c.531G>C (p.Glu177Asp) c.102G>C (p.Glu34Asp) n.247-5852G>C n.247+7316G>C | |
| 19 | g.46755981G= | CA2339067403 | FKRP | c.531G= (p.Glu177=) c.102G= (p.Glu34=) n.247-5852G= n.247+7316G= | |
| 19 | g.46755981G>T | CA406495509 | FKRP | c.531G>T (p.Glu177Asp) c.102G>T (p.Glu34Asp) n.247-5852G>T n.247+7316G>T | gnomAD v4 |
| 19 | g.46755982T>A | CA406495510 | FKRP | c.532T>A (p.Trp178Arg) c.103T>A (p.Trp35Arg) n.247-5851T>A n.247+7317T>A | |
| 19 | g.46755982T>C | CA406495511 | FKRP | c.532T>C (p.Trp178Arg) c.103T>C (p.Trp35Arg) n.247-5851T>C n.247+7317T>C | |
| 19 | g.46755982T>G | CA406495512 | FKRP | c.532T>G (p.Trp178Gly) c.103T>G (p.Trp35Gly) n.247-5851T>G n.247+7317T>G | gnomAD v4 |
| 19 | g.46755983G>A | CA9532160 | FKRP | c.533G>A (p.Trp178Ter) c.104G>A (p.Trp35Ter) n.247-5850G>A n.247+7318G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46755983G>C | CA406495513 | FKRP | c.533G>C (p.Trp178Ser) c.104G>C (p.Trp35Ser) n.247-5850G>C n.247+7318G>C | |
| 19 | g.46755983G= | CA2339067405 | FKRP | c.533G= (p.Trp178=) c.104G= (p.Trp35=) n.247-5850G= n.247+7318G= | |
| 19 | g.46755983G>T | CA406495514 | FKRP | c.533G>T (p.Trp178Leu) c.104G>T (p.Trp35Leu) n.247-5850G>T n.247+7318G>T | gnomAD v4 |
| 19 | g.46755984del | CA2576826104 | FKRP | c.534del (p.Trp178Ter) c.105del (p.Trp35=) n.247-5849del n.247+7319del | |
| 19 | g.46755984G>A | CA406495516 | FKRP | c.534G>A (p.Trp178Ter) c.105G>A (p.Trp35Ter) n.247-5849G>A n.247+7319G>A | dbSNP |
| 19 | g.46755984G>C | CA406495517 | FKRP | c.534G>C (p.Trp178Cys) c.105G>C (p.Trp35Cys) n.247-5849G>C n.247+7319G>C | dbSNP |
| 19 | g.46755984G= | CA2339067407 | FKRP | c.534G= (p.Trp178=) c.105G= (p.Trp35=) n.247-5849G= n.247+7319G= | |
| 19 | g.46755984G>T | CA406495515 | FKRP | c.534G>T (p.Trp178Cys) c.105G>T (p.Trp35Cys) n.247-5849G>T n.247+7319G>T | gnomAD v4 |
| 19 | g.46755985A= | CA2339067409 | FKRP | c.535A= (p.Thr179=) n.247-5848A= n.247+7320A= | |
| 19 | g.46755985A>C | CA406495518 | FKRP | c.535A>C (p.Thr179Pro) n.247-5848A>C n.247+7320A>C | dbSNP |
| 19 | g.46755985A>G | CA406495519 | FKRP | c.535A>G (p.Thr179Ala) n.247-5848A>G n.247+7320A>G | gnomAD v4 |
| 19 | g.46755985A>T | CA406495520 | FKRP | c.535A>T (p.Thr179Ser) n.247-5848A>T n.247+7320A>T | |
| 19 | g.46755986C>A | CA406495521 | FKRP | c.536C>A (p.Thr179Asn) n.247-5847C>A n.247+7321C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755986C>G | CA406495522 | FKRP | c.536C>G (p.Thr179Ser) n.247-5847C>G n.247+7321C>G | |
| 19 | g.46755986C>T | CA406495523 | FKRP | c.536C>T (p.Thr179Ile) n.247-5847C>T n.247+7321C>T | |
| 19 | g.46755991_46756011del | CA2585987469 | FKRP | c.541_561del (p.Arg181_Ala187del) n.247-5842_247-5822del n.247+7326_247+7346del | gnomAD v4 |
| 19 | g.46755990_46756020dup | CA633484279 | FKRP | c.540_570dup (p.Cys191ProfsTer?) n.247-5843_247-5813dup n.247+7325_247+7355dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755987C>A | CA507975599 | FKRP | c.537C>A (p.Thr179=) n.247-5846C>A n.247+7322C>A | gnomAD v4 |
| 19 | g.46755987C= | CA2339067411 | FKRP | c.537C= (p.Thr179=) n.247-5846C= n.247+7322C= | |
| 19 | g.46755987C>G | CA9532161 | FKRP | c.537C>G (p.Thr179=) n.247-5846C>G n.247+7322C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755987C>T | CA507975601 | FKRP | c.537C>T (p.Thr179=) n.247-5846C>T n.247+7322C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755992_46756017del | CA2580097437 | FKRP | c.542_567del (p.Arg181ProfsTer?) n.247-5841_247-5816del n.247+7327_247+7352del | ClinVar |
| 19 | g.46755988G>A | CA406495524 | FKRP | c.538G>A (p.Ala180Thr) n.247-5845G>A n.247+7323G>A | gnomAD v4 |
| 19 | g.46755988G>C | CA406495525 | FKRP | c.538G>C (p.Ala180Pro) n.247-5845G>C n.247+7323G>C | |
| 19 | g.46755988G>T | CA406495526 | FKRP | c.538G>T (p.Ala180Ser) n.247-5845G>T n.247+7323G>T | ClinVar gnomAD v4 |
| 19 | g.46755989C>A | CA406495527 | FKRP | c.539C>A (p.Ala180Asp) n.247-5844C>A n.247+7324C>A | ClinVar dbSNP |
| 19 | g.46755989C= | CA2339067412 | FKRP | c.539C= (p.Ala180=) n.247-5844C= n.247+7324C= | |
| 19 | g.46755989C>G | CA406495528 | FKRP | c.539C>G (p.Ala180Gly) n.247-5844C>G n.247+7324C>G | |
| 19 | g.46755989C>T | CA406495529 | FKRP | c.539C>T (p.Ala180Val) n.247-5844C>T n.247+7324C>T | |
| 19 | g.46755990C>A | CA507975612 | FKRP | c.540C>A (p.Ala180=) n.247-5843C>A n.247+7325C>A | gnomAD v4 |
| 19 | g.46755990C= | CA2339067415 | FKRP | c.540C= (p.Ala180=) n.247-5843C= n.247+7325C= | |
| 19 | g.46755990C>G | CA507975614 | FKRP | c.540C>G (p.Ala180=) n.247-5843C>G n.247+7325C>G | |
| 19 | g.46755990C>T | CA507975615 | FKRP | c.540C>T (p.Ala180=) n.247-5843C>T n.247+7325C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755990_46755991delinsCC | CA2339067416 | FKRP | c.540_541delinsCC (p.Ala180=) n.247-5843_247-5842delinsCC n.247+7325_247+7326delinsCC | |
| 19 | g.46755990_46755991delinsTA | CA891844242 | FKRP | c.540_541delinsTA (p.Arg181Ser) n.247-5843_247-5842delinsTA n.247+7325_247+7326delinsTA | ClinVar dbSNP |
| 19 | g.46755991C>A | CA9532162 | FKRP | c.541C>A (p.Arg181Ser) n.247-5842C>A n.247+7326C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755991C= | CA2339067420 | FKRP | c.541C= (p.Arg181=) n.247-5842C= n.247+7326C= | |
| 19 | g.46755991C>G | CA406495530 | FKRP | c.541C>G (p.Arg181Gly) n.247-5842C>G n.247+7326C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755991C>T | CA309099342 | FKRP | c.541C>T (p.Arg181Cys) n.247-5842C>T n.247+7326C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755992G>A | CA406495531 | FKRP | c.542G>A (p.Arg181His) n.247-5841G>A n.247+7327G>A | gnomAD v4 COSMIC |
| 19 | g.46755992G>C | CA406495532 | FKRP | c.542G>C (p.Arg181Pro) n.247-5841G>C n.247+7327G>C | |
| 19 | g.46755992G>T | CA406495533 | FKRP | c.542G>T (p.Arg181Leu) n.247-5841G>T n.247+7327G>T | gnomAD v4 |
| 19 | g.46755993_46755997del | CA2576826105 | FKRP | c.543_547del (p.Tyr182ArgfsTer?) n.247-5840_247-5836del n.247+7328_247+7332del | |
| 19 | g.46755993C>A | CA507975622 | FKRP | c.543C>A (p.Arg181=) n.247-5840C>A n.247+7328C>A | |
| 19 | g.46755993C>G | CA507975623 | FKRP | c.543C>G (p.Arg181=) n.247-5840C>G n.247+7328C>G | |
| 19 | g.46755993C>T | CA507975624 | FKRP | c.543C>T (p.Arg181=) n.247-5840C>T n.247+7328C>T | gnomAD v4 |
| 19 | g.46755994del | CA2695201350 | FKRP | c.544del (p.Tyr182MetfsTer?) n.247-5839del n.247+7329del | ClinVar |
| 19 | g.46755994T>A | CA406495534 | FKRP | c.544T>A (p.Tyr182Asn) n.247-5839T>A n.247+7329T>A | |
| 19 | g.46755994T>C | CA9532163 | FKRP | c.544T>C (p.Tyr182His) n.247-5839T>C n.247+7329T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755994T>G | CA406495535 | FKRP | c.544T>G (p.Tyr182Asp) n.247-5839T>G n.247+7329T>G | |
| 19 | g.46755994T= | CA2339067424 | FKRP | c.544T= (p.Tyr182=) n.247-5839T= n.247+7329T= | |
| 19 | g.46755995A= | CA2339067427 | FKRP | c.545A= (p.Tyr182=) n.247-5838A= n.247+7330A= | |
| 19 | g.46755995A>C | CA406495536 | FKRP | c.545A>C (p.Tyr182Ser) n.247-5838A>C n.247+7330A>C | ClinVar dbSNP |
| 19 | g.46755995A>G | CA9532164 | FKRP | c.545A>G (p.Tyr182Cys) n.247-5838A>G n.247+7330A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755995A>T | CA406495537 | FKRP | c.545A>T (p.Tyr182Phe) n.247-5838A>T n.247+7330A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755996T>A | CA406495538 | FKRP | c.546T>A (p.Tyr182Ter) n.247-5837T>A n.247+7331T>A | |
| 19 | g.46755996T>C | CA507975635 | FKRP | c.546T>C (p.Tyr182=) n.247-5837T>C n.247+7331T>C | |
| 19 | g.46755996T>G | CA406495539 | FKRP | c.546T>G (p.Tyr182Ter) n.247-5837T>G n.247+7331T>G | |
| 19 | g.46755997G>A | CA406495542 | FKRP | c.547G>A (p.Gly183Ser) n.247-5836G>A n.247+7332G>A | gnomAD v4 |
| 19 | g.46755997G>C | CA406495541 | FKRP | c.547G>C (p.Gly183Arg) n.247-5836G>C n.247+7332G>C | |
| 19 | g.46755997G= | CA2339067429 | FKRP | c.547G= (p.Gly183=) n.247-5836G= n.247+7332G= | |
| 19 | g.46755997G>T | CA406495540 | FKRP | c.547G>T (p.Gly183Cys) n.247-5836G>T n.247+7332G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755998G>A | CA406495543 | FKRP | c.548G>A (p.Gly183Asp) n.247-5835G>A n.247+7333G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755998G>C | CA406495545 | FKRP | c.548G>C (p.Gly183Ala) n.247-5835G>C n.247+7333G>C | |
| 19 | g.46755998G= | CA2339067432 | FKRP | c.548G= (p.Gly183=) n.247-5835G= n.247+7333G= | |
| 19 | g.46755998G>T | CA406495544 | FKRP | c.548G>T (p.Gly183Val) n.247-5835G>T n.247+7333G>T | gnomAD v4 |
| 19 | g.46755999C>A | CA507975646 | FKRP | c.549C>A (p.Gly183=) n.247-5834C>A n.247+7334C>A | gnomAD v4 |
| 19 | g.46755999C>G | CA507975648 | FKRP | c.549C>G (p.Gly183=) n.247-5834C>G n.247+7334C>G | dbSNP |
| 19 | g.46755999C>T | CA507975647 | FKRP | c.549C>T (p.Gly183=) n.247-5834C>T n.247+7334C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756000G>A | CA406495546 | FKRP | c.550G>A (p.Ala184Thr) n.247-5833G>A n.247+7335G>A | gnomAD v4 |
| 19 | g.46756000G>C | CA406495547 | FKRP | c.550G>C (p.Ala184Pro) n.247-5833G>C n.247+7335G>C | gnomAD v4 |
| 19 | g.46756000G>T | CA406495548 | FKRP | c.550G>T (p.Ala184Ser) n.247-5833G>T n.247+7335G>T | |
| 19 | g.46756001C>A | CA406495549 | FKRP | c.551C>A (p.Ala184Glu) n.247-5832C>A n.247+7336C>A | gnomAD v4 |
| 19 | g.46756001C= | CA2339067434 | FKRP | c.551C= (p.Ala184=) n.247-5832C= n.247+7336C= | |
| 19 | g.46756001C>G | CA406495550 | FKRP | c.551C>G (p.Ala184Gly) n.247-5832C>G n.247+7336C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756001C>T | CA406495551 | FKRP | c.551C>T (p.Ala184Val) n.247-5832C>T n.247+7336C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756002A>C | CA507975655 | FKRP | c.552A>C (p.Ala184=) n.247-5831A>C n.247+7337A>C | |
| 19 | g.46756002A>G | CA507975657 | FKRP | c.552A>G (p.Ala184=) n.247-5831A>G n.247+7337A>G | gnomAD v4 |
| 19 | g.46756002A>T | CA507975660 | FKRP | c.552A>T (p.Ala184=) n.247-5831A>T n.247+7337A>T | |
| 19 | g.46756003G>A | CA406495553 | FKRP | c.553G>A (p.Ala185Thr) n.247-5830G>A n.247+7338G>A | gnomAD v4 |
| 19 | g.46756003G>C | CA309099348 | FKRP | c.553G>C (p.Ala185Pro) n.247-5830G>C n.247+7338G>C | dbSNP gnomAD v4 |
| 19 | g.46756003G= | CA2339067436 | FKRP | c.553G= (p.Ala185=) n.247-5830G= n.247+7338G= | |
| 19 | g.46756003G>T | CA406495552 | FKRP | c.553G>T (p.Ala185Ser) n.247-5830G>T n.247+7338G>T | gnomAD v4 |
| 19 | g.46756003dup | CA913018605 | FKRP | c.553dup (p.Ala185GlyfsTer?) n.247-5830dup n.247+7338dup | |
| 19 | g.46756003_46756004delinsGC | CA2339067437 | FKRP | c.553_554delinsGC (p.Ala185=) n.247-5830_247-5829delinsGC n.247+7338_247+7339delinsGC | |
| 19 | g.46756004C>A | CA406495554 | FKRP | c.554C>A (p.Ala185Asp) n.247-5829C>A n.247+7339C>A | gnomAD v4 |
| 19 | g.46756004C= | CA2339067440 | FKRP | c.554C= (p.Ala185=) n.247-5829C= n.247+7339C= | |
| 19 | g.46756004C>G | CA406495555 | FKRP | c.554C>G (p.Ala185Gly) n.247-5829C>G n.247+7339C>G | dbSNP |
| 19 | g.46756004C>T | CA309099350 | FKRP | c.554C>T (p.Ala185Val) n.247-5829C>T n.247+7339C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756008dup | CA658825098 | FKRP | c.558dup (p.Ala187ArgfsTer?) n.247-5825dup n.247+7343dup | ClinVar dbSNP |
| 19 | g.46756008del | CA633484280 | FKRP | c.558del (p.Ala187ProfsTer?) n.247-5825del n.247+7343del | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756005C>A | CA507975669 | FKRP | c.555C>A (p.Ala185=) n.247-5828C>A n.247+7340C>A | ClinVar dbSNP |
| 19 | g.46756005C= | CA2339067444 | FKRP | c.555C= (p.Ala185=) n.247-5828C= n.247+7340C= | |
| 19 | g.46756005C>G | CA507975671 | FKRP | c.555C>G (p.Ala185=) n.247-5828C>G n.247+7340C>G | ClinVar dbSNP |
| 19 | g.46756005C>T | CA16608197 | FKRP | c.555C>T (p.Ala185=) n.247-5828C>T n.247+7340C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756006C>A | CA406495556 | FKRP | c.556C>A (p.Pro186Thr) n.247-5827C>A n.247+7341C>A | gnomAD v4 |
| 19 | g.46756006C= | CA2339067447 | FKRP | c.556C= (p.Pro186=) n.247-5827C= n.247+7341C= | |
| 19 | g.46756006C>G | CA9532165 | FKRP | c.556C>G (p.Pro186Ala) n.247-5827C>G n.247+7341C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756006C>T | CA406495557 | FKRP | c.556C>T (p.Pro186Ser) n.247-5827C>T n.247+7341C>T | gnomAD v4 |
| 19 | g.46756007C>A | CA406495558 | FKRP | c.557C>A (p.Pro186His) n.247-5826C>A n.247+7342C>A | gnomAD v4 |
| 19 | g.46756007C= | CA2339067450 | FKRP | c.557C= (p.Pro186=) n.247-5826C= n.247+7342C= | |
| 19 | g.46756007C>G | CA9532166 | FKRP | c.557C>G (p.Pro186Arg) n.247-5826C>G n.247+7342C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756007C>T | CA10605068 | FKRP | c.557C>T (p.Pro186Leu) n.247-5826C>T n.247+7342C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756011_46756013dup | CA658825099 | FKRP | c.561_563dup (p.Ala188_Pro189insAla) n.247-5822_247-5820dup n.247+7346_247+7348dup | ClinVar dbSNP |
| 19 | g.46756008C>A | CA507975684 | FKRP | c.558C>A (p.Pro186=) n.247-5825C>A n.247+7343C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756008C= | CA2339067452 | FKRP | c.558C= (p.Pro186=) n.247-5825C= n.247+7343C= | |
| 19 | g.46756008C>G | CA507975685 | FKRP | c.558C>G (p.Pro186=) n.247-5825C>G n.247+7343C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756008C>T | CA507975687 | FKRP | c.558C>T (p.Pro186=) n.247-5825C>T n.247+7343C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756009G>A | CA406495559 | FKRP | c.559G>A (p.Ala187Thr) n.247-5824G>A n.247+7344G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756009G>C | CA406495560 | FKRP | c.559G>C (p.Ala187Pro) n.247-5824G>C n.247+7344G>C | gnomAD v4 |
| 19 | g.46756009G= | CA2339067455 | FKRP | c.559G= (p.Ala187=) n.247-5824G= n.247+7344G= | |
| 19 | g.46756009G>T | CA406495561 | FKRP | c.559G>T (p.Ala187Ser) n.247-5824G>T n.247+7344G>T | dbSNP gnomAD v4 |
| 19 | g.46756009_46756010delinsAA | CA2573156476 | FKRP | c.559_560delinsAA (p.Ala187Asn) n.247-5824_247-5823delinsAA n.247+7344_247+7345delinsAA | ClinVar dbSNP |
| 19 | g.46756010C>A | CA406495562 | FKRP | c.560C>A (p.Ala187Asp) n.247-5823C>A n.247+7345C>A | gnomAD v4 |
| 19 | g.46756010C>G | CA406495563 | FKRP | c.560C>G (p.Ala187Gly) n.247-5823C>G n.247+7345C>G | |
| 19 | g.46756010C>T | CA406495564 | FKRP | c.560C>T (p.Ala187Val) n.247-5823C>T n.247+7345C>T | gnomAD v4 |
| 19 | g.46756011C>A | CA507975696 | FKRP | c.561C>A (p.Ala187=) n.247-5822C>A n.247+7346C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756011C= | CA2339067458 | FKRP | c.561C= (p.Ala187=) n.247-5822C= n.247+7346C= | |
| 19 | g.46756011C>G | CA9532168 | FKRP | c.561C>G (p.Ala187=) n.247-5822C>G n.247+7346C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756011C>T | CA9532167 | FKRP | c.561C>T (p.Ala187=) n.247-5822C>T n.247+7346C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756012G>A | CA9532169 | FKRP | c.562G>A (p.Ala188Thr) n.247-5821G>A n.247+7347G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756012G>C | CA406495565 | FKRP | c.562G>C (p.Ala188Pro) n.247-5821G>C n.247+7347G>C | |
| 19 | g.46756012G= | CA2339067462 | FKRP | c.562G= (p.Ala188=) n.247-5821G= n.247+7347G= | |
| 19 | g.46756012G>T | CA406495566 | FKRP | c.562G>T (p.Ala188Ser) n.247-5821G>T n.247+7347G>T | gnomAD v4 |
| 19 | g.46756012dup | CA913018607 | FKRP | c.562dup (p.Ala188GlyfsTer?) n.247-5821dup n.247+7347dup | |
| 19 | g.46756013C>A | CA406495567 | FKRP | c.563C>A (p.Ala188Glu) n.247-5820C>A n.247+7348C>A | gnomAD v4 |
| 19 | g.46756013C= | CA2339067469 | FKRP | c.563C= (p.Ala188=) n.247-5820C= n.247+7348C= | |
| 19 | g.46756013C>G | CA406495568 | FKRP | c.563C>G (p.Ala188Gly) n.247-5820C>G n.247+7348C>G | |
| 19 | g.46756013C>T | CA9532170 | FKRP | c.563C>T (p.Ala188Val) n.247-5820C>T n.247+7348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756016_46756020dup | CA658825100 | FKRP | c.566_570dup (p.Cys191ProfsTer?) n.247-5817_247-5813dup n.247+7351_247+7355dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756014G>A | CA507975699 | FKRP | c.564G>A (p.Ala188=) n.247-5819G>A n.247+7349G>A | gnomAD v4 |
| 19 | g.46756014G>C | CA507975700 | FKRP | c.564G>C (p.Ala188=) n.247-5819G>C n.247+7349G>C | gnomAD v4 |
| 19 | g.46756014G>T | CA507975701 | FKRP | c.564G>T (p.Ala188=) n.247-5819G>T n.247+7349G>T | gnomAD v4 |
| 19 | g.46756015C>A | CA406495569 | FKRP | c.565C>A (p.Pro189Thr) n.247-5818C>A n.247+7350C>A | gnomAD v4 |
| 19 | g.46756015C>G | CA406495570 | FKRP | c.565C>G (p.Pro189Ala) n.247-5818C>G n.247+7350C>G | |
| 19 | g.46756015C>T | CA406495571 | FKRP | c.565C>T (p.Pro189Ser) n.247-5818C>T n.247+7350C>T | gnomAD v4 |
| 19 | g.46756018del | CA2585987470 | FKRP | c.568del (p.Arg190AlafsTer?) n.247-5815del n.247+7353del | gnomAD v4 |
| 19 | g.46756016C>A | CA406495572 | FKRP | c.566C>A (p.Pro189His) n.247-5817C>A n.247+7351C>A | gnomAD v4 |
| 19 | g.46756016C= | CA2339067473 | FKRP | c.566C= (p.Pro189=) n.247-5817C= n.247+7351C= | |
| 19 | g.46756016C>G | CA406495573 | FKRP | c.566C>G (p.Pro189Arg) n.247-5817C>G n.247+7351C>G | dbSNP |
| 19 | g.46756016C>T | CA406495574 | FKRP | c.566C>T (p.Pro189Leu) n.247-5817C>T n.247+7351C>T | dbSNP gnomAD v4 |
| 19 | g.46756017C>A | CA507975711 | FKRP | c.567C>A (p.Pro189=) n.247-5816C>A n.247+7352C>A | gnomAD v4 |
| 19 | g.46756017C= | CA2339067475 | FKRP | c.567C= (p.Pro189=) n.247-5816C= n.247+7352C= | |
| 19 | g.46756017C>G | CA507975712 | FKRP | c.567C>G (p.Pro189=) n.247-5816C>G n.247+7352C>G | ClinVar gnomAD v4 COSMIC |
| 19 | g.46756017C>T | CA9532171 | FKRP | c.567C>T (p.Pro189=) n.247-5816C>T n.247+7352C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756018C>A | CA406495575 | FKRP | c.568C>A (p.Arg190Ser) n.247-5815C>A n.247+7353C>A | gnomAD v4 |
| 19 | g.46756018C= | CA2339067477 | FKRP | c.568C= (p.Arg190=) n.247-5815C= n.247+7353C= | |
| 19 | g.46756018C>G | CA406495576 | FKRP | c.568C>G (p.Arg190Gly) n.247-5815C>G n.247+7353C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756018C>T | CA406495577 | FKRP | c.568C>T (p.Arg190Cys) n.247-5815C>T n.247+7353C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756019G>A | CA309099363 | FKRP | c.569G>A (p.Arg190His) n.247-5814G>A n.247+7354G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756019G>C | CA406495578 | FKRP | c.569G>C (p.Arg190Pro) n.247-5814G>C n.247+7354G>C | ClinVar |
| 19 | g.46756019G= | CA2339067480 | FKRP | c.569G= (p.Arg190=) n.247-5814G= n.247+7354G= | |
| 19 | g.46756019G>T | CA406495579 | FKRP | c.569G>T (p.Arg190Leu) n.247-5814G>T n.247+7354G>T | gnomAD v4 |
| 19 | g.46756020C>A | CA507975721 | FKRP | c.570C>A (p.Arg190=) n.247-5813C>A n.247+7355C>A | gnomAD v4 |
| 19 | g.46756020C>G | CA507975722 | FKRP | c.570C>G (p.Arg190=) n.247-5813C>G n.247+7355C>G | gnomAD v4 |
| 19 | g.46756020C>T | CA507975720 | FKRP | c.570C>T (p.Arg190=) n.247-5813C>T n.247+7355C>T | gnomAD v4 |
| 19 | g.46756021T>A | CA406495580 | FKRP | c.571T>A (p.Cys191Ser) n.247-5812T>A n.247+7356T>A | |
| 19 | g.46756021T>C | CA406495582 | FKRP | c.571T>C (p.Cys191Arg) n.247-5812T>C n.247+7356T>C | |
| 19 | g.46756021T>G | CA406495581 | FKRP | c.571T>G (p.Cys191Gly) n.247-5812T>G n.247+7356T>G | |
| 19 | g.46756022G>A | CA406495583 | FKRP | c.572G>A (p.Cys191Tyr) n.247-5811G>A n.247+7357G>A | gnomAD v4 COSMIC |
| 19 | g.46756022G>C | CA406495584 | FKRP | c.572G>C (p.Cys191Ser) n.247-5811G>C n.247+7357G>C | |
| 19 | g.46756022G>T | CA406495585 | FKRP | c.572G>T (p.Cys191Phe) n.247-5811G>T n.247+7357G>T | gnomAD v4 |
| 19 | g.46756023C>A | CA406495586 | FKRP | c.573C>A (p.Cys191Ter) n.247-5810C>A n.247+7358C>A | gnomAD v4 |
| 19 | g.46756023C= | CA2339067482 | FKRP | c.573C= (p.Cys191=) n.247-5810C= n.247+7358C= | |
| 19 | g.46756023C>G | CA406495587 | FKRP | c.573C>G (p.Cys191Trp) n.247-5810C>G n.247+7358C>G | |
| 19 | g.46756023C>T | CA9532172 | FKRP | c.573C>T (p.Cys191=) n.247-5810C>T n.247+7358C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756024G>A | CA406495588 | FKRP | c.574G>A (p.Asp192Asn) n.247-5809G>A n.247+7359G>A | gnomAD v4 |
| 19 | g.46756024G>C | CA406495589 | FKRP | c.574G>C (p.Asp192His) n.247-5809G>C n.247+7359G>C | |
| 19 | g.46756024G>T | CA406495590 | FKRP | c.574G>T (p.Asp192Tyr) n.247-5809G>T n.247+7359G>T | gnomAD v4 |
| 19 | g.46756025A>C | CA406495593 | FKRP | c.575A>C (p.Asp192Ala) n.247-5808A>C n.247+7360A>C | |
| 19 | g.46756025A>G | CA406495592 | FKRP | c.575A>G (p.Asp192Gly) n.247-5808A>G n.247+7360A>G | ClinVar gnomAD v4 |
| 19 | g.46756025A>T | CA406495591 | FKRP | c.575A>T (p.Asp192Val) n.247-5808A>T n.247+7360A>T | |
| 19 | g.46756026C>A | CA406495594 | FKRP | c.576C>A (p.Asp192Glu) n.247-5807C>A n.247+7361C>A | gnomAD v4 |
| 19 | g.46756026C= | CA2339067484 | FKRP | c.576C= (p.Asp192=) n.247-5807C= n.247+7361C= | |
| 19 | g.46756026C>G | CA406495595 | FKRP | c.576C>G (p.Asp192Glu) n.247-5807C>G n.247+7361C>G | |
| 19 | g.46756026C>T | CA507975736 | FKRP | c.576C>T (p.Asp192=) n.247-5807C>T n.247+7361C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |