Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46756673G>A | CA9532277 | FKRP | c.1223G>A (p.Ser408Asn) n.247-5160G>A n.247+8008G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756673G>C | CA406496906 | FKRP | c.1223G>C (p.Ser408Thr) n.247-5160G>C n.247+8008G>C | |
19 | g.46756673G= | CA2339067752 | FKRP | c.1223G= (p.Ser408=) n.247-5160G= n.247+8008G= | |
19 | g.46756673G>T | CA406496907 | FKRP | c.1223G>T (p.Ser408Ile) n.247-5160G>T n.247+8008G>T | |
19 | g.46756674C>A | CA406496908 | FKRP | c.1224C>A (p.Ser408Arg) n.247-5159C>A n.247+8009C>A | |
19 | g.46756674C= | CA2339067753 | FKRP | c.1224C= (p.Ser408=) n.247-5159C= n.247+8009C= | |
19 | g.46756674C>G | CA406496909 | FKRP | c.1224C>G (p.Ser408Arg) n.247-5159C>G n.247+8009C>G | |
19 | g.46756674C>T | CA9532278 | FKRP | c.1224C>T (p.Ser408=) n.247-5159C>T n.247+8009C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756675G>A | CA406496910 | FKRP | c.1225G>A (p.Glu409Lys) n.247-5158G>A n.247+8010G>A | gnomAD v4 |
19 | g.46756675G>C | CA406496911 | FKRP | c.1225G>C (p.Glu409Gln) n.247-5158G>C n.247+8010G>C | |
19 | g.46756675G>T | CA406496912 | FKRP | c.1225G>T (p.Glu409Ter) n.247-5158G>T n.247+8010G>T | |
19 | g.46756676A>C | CA406496913 | FKRP | c.1226A>C (p.Glu409Ala) n.247-5157A>C n.247+8011A>C | |
19 | g.46756676A>G | CA406496914 | FKRP | c.1226A>G (p.Glu409Gly) n.247-5157A>G n.247+8011A>G | |
19 | g.46756676A>T | CA406496915 | FKRP | c.1226A>T (p.Glu409Val) n.247-5157A>T n.247+8011A>T | |
19 | g.46756677A>C | CA406496916 | FKRP | c.1227A>C (p.Glu409Asp) n.247-5156A>C n.247+8012A>C | |
19 | g.46756677A>G | CA507975738 | FKRP | c.1227A>G (p.Glu409=) n.247-5156A>G n.247+8012A>G | |
19 | g.46756677A>T | CA406496917 | FKRP | c.1227A>T (p.Glu409Asp) n.247-5156A>T n.247+8012A>T | |
19 | g.46756678A>C | CA406496920 | FKRP | c.1228A>C (p.Ser410Arg) n.247-5155A>C n.247+8013A>C | |
19 | g.46756678A>G | CA406496919 | FKRP | c.1228A>G (p.Ser410Gly) n.247-5155A>G n.247+8013A>G | |
19 | g.46756678A>T | CA406496918 | FKRP | c.1228A>T (p.Ser410Cys) n.247-5155A>T n.247+8013A>T | |
19 | g.46756679G>A | CA406496921 | FKRP | c.1229G>A (p.Ser410Asn) n.247-5154G>A n.247+8014G>A | |
19 | g.46756679G>C | CA406496922 | FKRP | c.1229G>C (p.Ser410Thr) n.247-5154G>C n.247+8014G>C | |
19 | g.46756679G>T | CA406496923 | FKRP | c.1229G>T (p.Ser410Ile) n.247-5154G>T n.247+8014G>T | |
19 | g.46756680C>A | CA406496924 | FKRP | c.1230C>A (p.Ser410Arg) n.247-5153C>A n.247+8015C>A | |
19 | g.46756680C>G | CA406496925 | FKRP | c.1230C>G (p.Ser410Arg) n.247-5153C>G n.247+8015C>G | |
19 | g.46756680C>T | CA507975748 | FKRP | c.1230C>T (p.Ser410=) n.247-5153C>T n.247+8015C>T | |
19 | g.46756681A>C | CA406496926 | FKRP | c.1231A>C (p.Asn411His) n.247-5152A>C n.247+8016A>C | gnomAD v4 |
19 | g.46756681A>G | CA406496927 | FKRP | c.1231A>G (p.Asn411Asp) n.247-5152A>G n.247+8016A>G | |
19 | g.46756681A>T | CA406496928 | FKRP | c.1231A>T (p.Asn411Tyr) n.247-5152A>T n.247+8016A>T | |
19 | g.46756682A>C | CA406496929 | FKRP | c.1232A>C (p.Asn411Thr) n.247-5151A>C n.247+8017A>C | |
19 | g.46756682A>G | CA406496930 | FKRP | c.1232A>G (p.Asn411Ser) n.247-5151A>G n.247+8017A>G | |
19 | g.46756682A>T | CA406496931 | FKRP | c.1232A>T (p.Asn411Ile) n.247-5151A>T n.247+8017A>T | |
19 | g.46756683C>A | CA406496932 | FKRP | c.1233C>A (p.Asn411Lys) n.247-5150C>A n.247+8018C>A | |
19 | g.46756683C= | CA2339067754 | FKRP | c.1233C= (p.Asn411=) n.247-5150C= n.247+8018C= | |
19 | g.46756683C>G | CA406496933 | FKRP | c.1233C>G (p.Asn411Lys) n.247-5150C>G n.247+8018C>G | |
19 | g.46756683C>T | CA507975755 | FKRP | c.1233C>T (p.Asn411=) n.247-5150C>T n.247+8018C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756684dup | CA2573156481 | FKRP | c.1234dup (p.His412ProfsTer?) n.247-5149dup n.247+8019dup | ClinVar dbSNP |
19 | g.46756684C>A | CA406496936 | FKRP | c.1234C>A (p.His412Asn) n.247-5149C>A n.247+8019C>A | |
19 | g.46756684C>G | CA406496935 | FKRP | c.1234C>G (p.His412Asp) n.247-5149C>G n.247+8019C>G | |
19 | g.46756684C>T | CA406496934 | FKRP | c.1234C>T (p.His412Tyr) n.247-5149C>T n.247+8019C>T | COSMIC |
19 | g.46756685A>C | CA406496937 | FKRP | c.1235A>C (p.His412Pro) n.247-5148A>C n.247+8020A>C | |
19 | g.46756685A>G | CA406496938 | FKRP | c.1235A>G (p.His412Arg) n.247-5148A>G n.247+8020A>G | |
19 | g.46756685A>T | CA406496939 | FKRP | c.1235A>T (p.His412Leu) n.247-5148A>T n.247+8020A>T | |
19 | g.46756686C>A | CA406496940 | FKRP | c.1236C>A (p.His412Gln) n.247-5147C>A n.247+8021C>A | |
19 | g.46756686C= | CA2339067755 | FKRP | c.1236C= (p.His412=) n.247-5147C= n.247+8021C= | |
19 | g.46756686C>G | CA406496941 | FKRP | c.1236C>G (p.His412Gln) n.247-5147C>G n.247+8021C>G | ClinVar dbSNP gnomAD v4 |
19 | g.46756686C>T | CA9532279 | FKRP | c.1236C>T (p.His412=) n.247-5147C>T n.247+8021C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756686_46756687delinsCT | CA2339067756 | FKRP | c.1236_1237delinsCT (p.His412=) n.247-5147_247-5146delinsCT n.247+8021_247+8022delinsCT | |
19 | g.46756687T>A | CA406496942 | FKRP | c.1237T>A (p.Leu413Met) n.247-5146T>A n.247+8022T>A | |
19 | g.46756687T>C | CA507975769 | FKRP | c.1237T>C (p.Leu413=) n.247-5146T>C n.247+8022T>C | ClinVar |