| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756635G>A | CA507976231 | FKRP | c.1185G>A (p.Glu395=) n.247-5198G>A n.247+7970G>A | |
| 19 | g.46756635G>C | CA406496818 | FKRP | c.1185G>C (p.Glu395Asp) n.247-5198G>C n.247+7970G>C | |
| 19 | g.46756635G= | CA2339067731 | FKRP | c.1185G= (p.Glu395=) n.247-5198G= n.247+7970G= | |
| 19 | g.46756635G>T | CA406496819 | FKRP | c.1185G>T (p.Glu395Asp) n.247-5198G>T n.247+7970G>T | |
| 19 | g.46756636A>C | CA406496820 | FKRP | c.1186A>C (p.Lys396Gln) n.247-5197A>C n.247+7971A>C | |
| 19 | g.46756636A>G | CA406496821 | FKRP | c.1186A>G (p.Lys396Glu) n.247-5197A>G n.247+7971A>G | |
| 19 | g.46756636A>T | CA406496822 | FKRP | c.1186A>T (p.Lys396Ter) n.247-5197A>T n.247+7971A>T | |
| 19 | g.46756637dup | CA9532271 | FKRP | c.1187dup (p.Ala397GlyfsTer?) n.247-5196dup n.247+7972dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756637A>C | CA406496823 | FKRP | c.1187A>C (p.Lys396Thr) n.247-5196A>C n.247+7972A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756637A>G | CA406496824 | FKRP | c.1187A>G (p.Lys396Arg) n.247-5196A>G n.247+7972A>G | |
| 19 | g.46756637A>T | CA406496825 | FKRP | c.1187A>T (p.Lys396Met) n.247-5196A>T n.247+7972A>T | |
| 19 | g.46756638G>A | CA507976236 | FKRP | c.1188G>A (p.Lys396=) n.247-5195G>A n.247+7973G>A | |
| 19 | g.46756638G>C | CA406496826 | FKRP | c.1188G>C (p.Lys396Asn) n.247-5195G>C n.247+7973G>C | |
| 19 | g.46756638G>T | CA406496827 | FKRP | c.1188G>T (p.Lys396Asn) n.247-5195G>T n.247+7973G>T | |
| 19 | g.46756639G>A | CA406496830 | FKRP | c.1189G>A (p.Ala397Thr) n.247-5194G>A n.247+7974G>A | |
| 19 | g.46756639G>C | CA406496829 | FKRP | c.1189G>C (p.Ala397Pro) n.247-5194G>C n.247+7974G>C | |
| 19 | g.46756639G>T | CA406496828 | FKRP | c.1189G>T (p.Ala397Ser) n.247-5194G>T n.247+7974G>T | |
| 19 | g.46756640C>A | CA406496832 | FKRP | c.1190C>A (p.Ala397Glu) n.247-5193C>A n.247+7975C>A | gnomAD v4 |
| 19 | g.46756640C= | CA2339067732 | FKRP | c.1190C= (p.Ala397=) n.247-5193C= n.247+7975C= | |
| 19 | g.46756640C>G | CA406496831 | FKRP | c.1190C>G (p.Ala397Gly) n.247-5193C>G n.247+7975C>G | |
| 19 | g.46756640C>T | CA9532272 | FKRP | c.1190C>T (p.Ala397Val) n.247-5193C>T n.247+7975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756641G>A | CA9532273 | FKRP | c.1191G>A (p.Ala397=) n.247-5192G>A n.247+7976G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756641G>C | CA507976244 | FKRP | c.1191G>C (p.Ala397=) n.247-5192G>C n.247+7976G>C | ClinVar dbSNP |
| 19 | g.46756641G= | CA2339067733 | FKRP | c.1191G= (p.Ala397=) n.247-5192G= n.247+7976G= | |
| 19 | g.46756641G>T | CA16608281 | FKRP | c.1191G>T (p.Ala397=) n.247-5192G>T n.247+7976G>T | ClinVar dbSNP |
| 19 | g.46756642G>A | CA406496833 | FKRP | c.1192G>A (p.Val398Ile) n.247-5191G>A n.247+7977G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756642G>C | CA406496834 | FKRP | c.1192G>C (p.Val398Leu) n.247-5191G>C n.247+7977G>C | |
| 19 | g.46756642G= | CA2339067734 | FKRP | c.1192G= (p.Val398=) n.247-5191G= n.247+7977G= | |
| 19 | g.46756642G>T | CA406496835 | FKRP | c.1192G>T (p.Val398Phe) n.247-5191G>T n.247+7977G>T | |
| 19 | g.46756643T>A | CA406496836 | FKRP | c.1193T>A (p.Val398Asp) n.247-5190T>A n.247+7978T>A | |
| 19 | g.46756643T>C | CA406496837 | FKRP | c.1193T>C (p.Val398Ala) n.247-5190T>C n.247+7978T>C | gnomAD v4 |
| 19 | g.46756643T>G | CA406496838 | FKRP | c.1193T>G (p.Val398Gly) n.247-5190T>G n.247+7978T>G | |
| 19 | g.46756644C>A | CA507976247 | FKRP | c.1194C>A (p.Val398=) n.247-5189C>A n.247+7979C>A | |
| 19 | g.46756644C= | CA2339067735 | FKRP | c.1194C= (p.Val398=) n.247-5189C= n.247+7979C= | |
| 19 | g.46756644C>G | CA507976250 | FKRP | c.1194C>G (p.Val398=) n.247-5189C>G n.247+7979C>G | |
| 19 | g.46756644C>T | CA9532274 | FKRP | c.1194C>T (p.Val398=) n.247-5189C>T n.247+7979C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756645G>A | CA406496839 | FKRP | c.1195G>A (p.Glu399Lys) n.247-5188G>A n.247+7980G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756645G>C | CA406496840 | FKRP | c.1195G>C (p.Glu399Gln) n.247-5188G>C n.247+7980G>C | |
| 19 | g.46756645G= | CA2339067736 | FKRP | c.1195G= (p.Glu399=) n.247-5188G= n.247+7980G= | |
| 19 | g.46756645G>T | CA406496841 | FKRP | c.1195G>T (p.Glu399Ter) n.247-5188G>T n.247+7980G>T | |
| 19 | g.46756646A>C | CA406496842 | FKRP | c.1196A>C (p.Glu399Ala) n.247-5187A>C n.247+7981A>C | |
| 19 | g.46756646A>G | CA406496843 | FKRP | c.1196A>G (p.Glu399Gly) n.247-5187A>G n.247+7981A>G | gnomAD v4 |
| 19 | g.46756646A>T | CA406496844 | FKRP | c.1196A>T (p.Glu399Val) n.247-5187A>T n.247+7981A>T | |
| 19 | g.46756647G>A | CA507976253 | FKRP | c.1197G>A (p.Glu399=) n.247-5186G>A n.247+7982G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756647G>C | CA406496845 | FKRP | c.1197G>C (p.Glu399Asp) n.247-5186G>C n.247+7982G>C | |
| 19 | g.46756647G= | CA2339067737 | FKRP | c.1197G= (p.Glu399=) n.247-5186G= n.247+7982G= | |
| 19 | g.46756647G>T | CA406496846 | FKRP | c.1197G>T (p.Glu399Asp) n.247-5186G>T n.247+7982G>T | |
| 19 | g.46756648G>A | CA406496847 | FKRP | c.1198G>A (p.Gly400Ser) n.247-5185G>A n.247+7983G>A | dbSNP |
| 19 | g.46756648G>C | CA406496848 | FKRP | c.1198G>C (p.Gly400Arg) n.247-5185G>C n.247+7983G>C | |
| 19 | g.46756648G= | CA2339067738 | FKRP | c.1198G= (p.Gly400=) n.247-5185G= n.247+7983G= | |
| 19 | g.46756648G>T | CA406496849 | FKRP | c.1198G>T (p.Gly400Cys) n.247-5185G>T n.247+7983G>T | |
| 19 | g.46756649G>A | CA406496850 | FKRP | c.1199G>A (p.Gly400Asp) n.247-5184G>A n.247+7984G>A | |
| 19 | g.46756649G>C | CA406496851 | FKRP | c.1199G>C (p.Gly400Ala) n.247-5184G>C n.247+7984G>C | |
| 19 | g.46756649G= | CA2339067739 | FKRP | c.1199G= (p.Gly400=) n.247-5184G= n.247+7984G= | |
| 19 | g.46756649G>T | CA406496852 | FKRP | c.1199G>T (p.Gly400Val) n.247-5184G>T n.247+7984G>T | dbSNP |
| 19 | g.46756650C>A | CA507976262 | FKRP | c.1200C>A (p.Gly400=) n.247-5183C>A n.247+7985C>A | |
| 19 | g.46756650C= | CA2339067740 | FKRP | c.1200C= (p.Gly400=) n.247-5183C= n.247+7985C= | |
| 19 | g.46756650C>G | CA507976260 | FKRP | c.1200C>G (p.Gly400=) n.247-5183C>G n.247+7985C>G | |
| 19 | g.46756650C>T | CA507976259 | FKRP | c.1200C>T (p.Gly400=) n.247-5183C>T n.247+7985C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756651G>A | CA406496853 | FKRP | c.1201G>A (p.Asp401Asn) n.247-5182G>A n.247+7986G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.46756651G>C | CA406496854 | FKRP | c.1201G>C (p.Asp401His) n.247-5182G>C n.247+7986G>C | |
| 19 | g.46756651G= | CA2339067741 | FKRP | c.1201G= (p.Asp401=) n.247-5182G= n.247+7986G= | |
| 19 | g.46756651G>T | CA406496855 | FKRP | c.1201G>T (p.Asp401Tyr) n.247-5182G>T n.247+7986G>T | dbSNP |
| 19 | g.46756652A>C | CA406496856 | FKRP | c.1202A>C (p.Asp401Ala) n.247-5181A>C n.247+7987A>C | |
| 19 | g.46756652A>G | CA406496857 | FKRP | c.1202A>G (p.Asp401Gly) n.247-5181A>G n.247+7987A>G | |
| 19 | g.46756652A>T | CA406496858 | FKRP | c.1202A>T (p.Asp401Val) n.247-5181A>T n.247+7987A>T | |
| 19 | g.46756653C>A | CA406496859 | FKRP | c.1203C>A (p.Asp401Glu) n.247-5180C>A n.247+7988C>A | |
| 19 | g.46756653C>G | CA406496860 | FKRP | c.1203C>G (p.Asp401Glu) n.247-5180C>G n.247+7988C>G | |
| 19 | g.46756653C>T | CA507976270 | FKRP | c.1203C>T (p.Asp401=) n.247-5180C>T n.247+7988C>T | ClinVar dbSNP |
| 19 | g.46756653_46756654del | CA913018617 | FKRP | c.1203_1204del (p.Phe403ProfsTer?) n.247-5180_247-5179del n.247+7988_247+7989del | |
| 19 | g.46756653_46756654delinsCT | CA2339067742 | FKRP | c.1203_1204delinsCT (p.Asp401=) n.247-5180_247-5179delinsCT n.247+7988_247+7989delinsCT | |
| 19 | g.46756654T>A | CA406496861 | FKRP | c.1204T>A (p.Phe402Ile) n.247-5179T>A n.247+7989T>A | |
| 19 | g.46756654T>C | CA406496862 | FKRP | c.1204T>C (p.Phe402Leu) n.247-5179T>C n.247+7989T>C | gnomAD v4 |
| 19 | g.46756654T>G | CA406496863 | FKRP | c.1204T>G (p.Phe402Val) n.247-5179T>G n.247+7989T>G | |
| 19 | g.46756658dup | CA2576826109 | FKRP | c.1208dup (p.Arg404ProfsTer?) n.247-5175dup n.247+7993dup | ClinVar gnomAD v4 |
| 19 | g.46756658del | CA658823850 | FKRP | c.1208del (p.Phe403SerfsTer25) n.247-5175del n.247+7993del | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756655T>A | CA406496864 | FKRP | c.1205T>A (p.Phe402Tyr) n.247-5178T>A n.247+7990T>A | COSMIC |
| 19 | g.46756655T>C | CA406496865 | FKRP | c.1205T>C (p.Phe402Ser) n.247-5178T>C n.247+7990T>C | gnomAD v4 |
| 19 | g.46756655T>G | CA406496866 | FKRP | c.1205T>G (p.Phe402Cys) n.247-5178T>G n.247+7990T>G | |
| 19 | g.46756656T>A | CA406496867 | FKRP | c.1206T>A (p.Phe402Leu) n.247-5177T>A n.247+7991T>A | |
| 19 | g.46756656T>C | CA507976278 | FKRP | c.1206T>C (p.Phe402=) n.247-5177T>C n.247+7991T>C | gnomAD v4 |
| 19 | g.46756656T>G | CA406496868 | FKRP | c.1206T>G (p.Phe402Leu) n.247-5177T>G n.247+7991T>G | |
| 19 | g.46756657T>A | CA406496869 | FKRP | c.1207T>A (p.Phe403Ile) n.247-5176T>A n.247+7992T>A | |
| 19 | g.46756657T>C | CA406496870 | FKRP | c.1207T>C (p.Phe403Leu) n.247-5176T>C n.247+7992T>C | |
| 19 | g.46756657T>G | CA406496871 | FKRP | c.1207T>G (p.Phe403Val) n.247-5176T>G n.247+7992T>G | |
| 19 | g.46756658T>A | CA9532275 | FKRP | c.1208T>A (p.Phe403Tyr) n.247-5175T>A n.247+7993T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756658T>C | CA406496872 | FKRP | c.1208T>C (p.Phe403Ser) n.247-5175T>C n.247+7993T>C | |
| 19 | g.46756658T>G | CA406496873 | FKRP | c.1208T>G (p.Phe403Cys) n.247-5175T>G n.247+7993T>G | |
| 19 | g.46756658T= | CA2339067743 | FKRP | c.1208T= (p.Phe403=) n.247-5175T= n.247+7993T= | |
| 19 | g.46756659C>A | CA406496874 | FKRP | c.1209C>A (p.Phe403Leu) n.247-5174C>A n.247+7994C>A | |
| 19 | g.46756659C>G | CA406496875 | FKRP | c.1209C>G (p.Phe403Leu) n.247-5174C>G n.247+7994C>G | |
| 19 | g.46756659C>T | CA507975706 | FKRP | c.1209C>T (p.Phe403=) n.247-5174C>T n.247+7994C>T | |
| 19 | g.46756660del | CA2695228907 | FKRP | c.1210del (p.Arg404AlafsTer24) n.247-5173del n.247+7995del | |
| 19 | g.46756660C>A | CA406496876 | FKRP | c.1210C>A (p.Arg404Ser) n.247-5173C>A n.247+7995C>A | |
| 19 | g.46756660C= | CA2339067744 | FKRP | c.1210C= (p.Arg404=) n.247-5173C= n.247+7995C= | |
| 19 | g.46756660C>G | CA406496877 | FKRP | c.1210C>G (p.Arg404Gly) n.247-5173C>G n.247+7995C>G | |
| 19 | g.46756660C>T | CA406496878 | FKRP | c.1210C>T (p.Arg404Cys) n.247-5173C>T n.247+7995C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756661G>A | CA406496879 | FKRP | c.1211G>A (p.Arg404His) n.247-5172G>A n.247+7996G>A | ClinVar dbSNP |
| 19 | g.46756661G>C | CA406496880 | FKRP | c.1211G>C (p.Arg404Pro) n.247-5172G>C n.247+7996G>C | |
| 19 | g.46756661G= | CA2339067745 | FKRP | c.1211G= (p.Arg404=) n.247-5172G= n.247+7996G= | |
| 19 | g.46756661G>T | CA406496881 | FKRP | c.1211G>T (p.Arg404Leu) n.247-5172G>T n.247+7996G>T | |
| 19 | g.46756662C>A | CA507975708 | FKRP | c.1212C>A (p.Arg404=) n.247-5171C>A n.247+7997C>A | |
| 19 | g.46756662C= | CA2339067746 | FKRP | c.1212C= (p.Arg404=) n.247-5171C= n.247+7997C= | |
| 19 | g.46756662C>G | CA507975710 | FKRP | c.1212C>G (p.Arg404=) n.247-5171C>G n.247+7997C>G | |
| 19 | g.46756662C>T | CA9532276 | FKRP | c.1212C>T (p.Arg404=) n.247-5171C>T n.247+7997C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756663G>A | CA406496882 | FKRP | c.1213G>A (p.Val405Met) n.247-5170G>A n.247+7998G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756663G>C | CA406496883 | FKRP | c.1213G>C (p.Val405Leu) n.247-5170G>C n.247+7998G>C | |
| 19 | g.46756663G= | CA2339067747 | FKRP | c.1213G= (p.Val405=) n.247-5170G= n.247+7998G= | |
| 19 | g.46756663G>T | CA116712 | FKRP | c.1213G>T (p.Val405Leu) n.247-5170G>T n.247+7998G>T | ClinVar dbSNP |
| 19 | g.46756664T>A | CA406496884 | FKRP | c.1214T>A (p.Val405Glu) n.247-5169T>A n.247+7999T>A | |
| 19 | g.46756664T>C | CA406496885 | FKRP | c.1214T>C (p.Val405Ala) n.247-5169T>C n.247+7999T>C | |
| 19 | g.46756664T>G | CA406496886 | FKRP | c.1214T>G (p.Val405Gly) n.247-5169T>G n.247+7999T>G | gnomAD v4 |
| 19 | g.46756665G>A | CA507975713 | FKRP | c.1215G>A (p.Val405=) n.247-5168G>A n.247+8000G>A | gnomAD v4 |
| 19 | g.46756665G>C | CA507975714 | FKRP | c.1215G>C (p.Val405=) n.247-5168G>C n.247+8000G>C | |
| 19 | g.46756665G= | CA2339067748 | FKRP | c.1215G= (p.Val405=) n.247-5168G= n.247+8000G= | |
| 19 | g.46756665G>T | CA507975715 | FKRP | c.1215G>T (p.Val405=) n.247-5168G>T n.247+8000G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756666C>A | CA406496888 | FKRP | c.1216C>A (p.Gln406Lys) n.247-5167C>A n.247+8001C>A | |
| 19 | g.46756666C= | CA2339067749 | FKRP | c.1216C= (p.Gln406=) n.247-5167C= n.247+8001C= | |
| 19 | g.46756666C>G | CA406496889 | FKRP | c.1216C>G (p.Gln406Glu) n.247-5167C>G n.247+8001C>G | |
| 19 | g.46756666C>T | CA406496887 | FKRP | c.1216C>T (p.Gln406Ter) n.247-5167C>T n.247+8001C>T | ClinVar dbSNP |
| 19 | g.46756667A= | CA2339067750 | FKRP | c.1217A= (p.Gln406=) n.247-5166A= n.247+8002A= | |
| 19 | g.46756667A>C | CA406496890 | FKRP | c.1217A>C (p.Gln406Pro) n.247-5166A>C n.247+8002A>C | ClinVar |
| 19 | g.46756667A>G | CA406496891 | FKRP | c.1217A>G (p.Gln406Arg) n.247-5166A>G n.247+8002A>G | dbSNP gnomAD v4 |
| 19 | g.46756667A>T | CA406496892 | FKRP | c.1217A>T (p.Gln406Leu) n.247-5166A>T n.247+8002A>T | |
| 19 | g.46756668G>A | CA507975726 | FKRP | c.1218G>A (p.Gln406=) n.247-5165G>A n.247+8003G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756668G>C | CA406496893 | FKRP | c.1218G>C (p.Gln406His) n.247-5165G>C n.247+8003G>C | |
| 19 | g.46756668G>T | CA406496894 | FKRP | c.1218G>T (p.Gln406His) n.247-5165G>T n.247+8003G>T | |
| 19 | g.46756669T>A | CA406496895 | FKRP | c.1219T>A (p.Tyr407Asn) n.247-5164T>A n.247+8004T>A | |
| 19 | g.46756669T>C | CA406496896 | FKRP | c.1219T>C (p.Tyr407His) n.247-5164T>C n.247+8004T>C | |
| 19 | g.46756669T>G | CA406496897 | FKRP | c.1219T>G (p.Tyr407Asp) n.247-5164T>G n.247+8004T>G | |
| 19 | g.46756670A>C | CA406496898 | FKRP | c.1220A>C (p.Tyr407Ser) n.247-5163A>C n.247+8005A>C | |
| 19 | g.46756670A>G | CA406496899 | FKRP | c.1220A>G (p.Tyr407Cys) n.247-5163A>G n.247+8005A>G | |
| 19 | g.46756670A>T | CA406496900 | FKRP | c.1220A>T (p.Tyr407Phe) n.247-5163A>T n.247+8005A>T | |
| 19 | g.46756671C>A | CA406496901 | FKRP | c.1221C>A (p.Tyr407Ter) n.247-5162C>A n.247+8006C>A | |
| 19 | g.46756671C= | CA2339067751 | FKRP | c.1221C= (p.Tyr407=) n.247-5162C= n.247+8006C= | |
| 19 | g.46756671C>G | CA406496902 | FKRP | c.1221C>G (p.Tyr407Ter) n.247-5162C>G n.247+8006C>G | ClinVar |
| 19 | g.46756671C>T | CA507975731 | FKRP | c.1221C>T (p.Tyr407=) n.247-5162C>T n.247+8006C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756672A>C | CA406496905 | FKRP | c.1222A>C (p.Ser408Arg) n.247-5161A>C n.247+8007A>C | |
| 19 | g.46756672A>G | CA406496904 | FKRP | c.1222A>G (p.Ser408Gly) n.247-5161A>G n.247+8007A>G | gnomAD v4 |
| 19 | g.46756672A>T | CA406496903 | FKRP | c.1222A>T (p.Ser408Cys) n.247-5161A>T n.247+8007A>T | |
| 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 |
| 19 | g.46756687T>G | CA406496943 | FKRP | c.1237T>G (p.Leu413Val) n.247-5146T>G n.247+8022T>G | |
| 19 | g.46756688del | CA1139666499 | FKRP | c.1238del (p.Leu413CysfsTer15) n.247-5145del n.247+8023del | ClinVar dbSNP |
| 19 | g.46756688T>A | CA406496944 | FKRP | c.1238T>A (p.Leu413Ter) n.247-5145T>A n.247+8023T>A | |
| 19 | g.46756688T>C | CA406496945 | FKRP | c.1238T>C (p.Leu413Ser) n.247-5145T>C n.247+8023T>C | |
| 19 | g.46756688T>G | CA406496946 | FKRP | c.1238T>G (p.Leu413Trp) n.247-5145T>G n.247+8023T>G | gnomAD v4 |
| 19 | g.46756689G>A | CA507975773 | FKRP | c.1239G>A (p.Leu413=) n.247-5144G>A n.247+8024G>A | |
| 19 | g.46756689G>C | CA406496947 | FKRP | c.1239G>C (p.Leu413Phe) n.247-5144G>C n.247+8024G>C | |
| 19 | g.46756689G>T | CA406496948 | FKRP | c.1239G>T (p.Leu413Phe) n.247-5144G>T n.247+8024G>T | |
| 19 | g.46756690C>A | CA406496950 | FKRP | c.1240C>A (p.His414Asn) n.247-5143C>A n.247+8025C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756690C= | CA2339067757 | FKRP | c.1240C= (p.His414=) n.247-5143C= n.247+8025C= | |
| 19 | g.46756690C>G | CA406496951 | FKRP | c.1240C>G (p.His414Asp) n.247-5143C>G n.247+8025C>G | |
| 19 | g.46756690C>T | CA406496949 | FKRP | c.1240C>T (p.His414Tyr) n.247-5143C>T n.247+8025C>T | |
| 19 | g.46756691A>C | CA406496952 | FKRP | c.1241A>C (p.His414Pro) n.247-5142A>C n.247+8026A>C | |
| 19 | g.46756691A>G | CA406496954 | FKRP | c.1241A>G (p.His414Arg) n.247-5142A>G n.247+8026A>G | |
| 19 | g.46756691A>T | CA406496953 | FKRP | c.1241A>T (p.His414Leu) n.247-5142A>T n.247+8026A>T | gnomAD v4 |
| 19 | g.46756692C>A | CA406496955 | FKRP | c.1242C>A (p.His414Gln) n.247-5141C>A n.247+8027C>A | |
| 19 | g.46756692C= | CA2339067758 | FKRP | c.1242C= (p.His414=) n.247-5141C= n.247+8027C= | |
| 19 | g.46756692C>G | CA406496956 | FKRP | c.1242C>G (p.His414Gln) n.247-5141C>G n.247+8027C>G | |
| 19 | g.46756692C>T | CA9532280 | FKRP | c.1242C>T (p.His414=) n.247-5141C>T n.247+8027C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756693G>A | CA406496957 | FKRP | c.1243G>A (p.Val415Met) n.247-5140G>A n.247+8028G>A | COSMIC |
| 19 | g.46756693G>C | CA406496958 | FKRP | c.1243G>C (p.Val415Leu) n.247-5140G>C n.247+8028G>C | |
| 19 | g.46756693G>T | CA406496959 | FKRP | c.1243G>T (p.Val415Leu) n.247-5140G>T n.247+8028G>T | gnomAD v4 |
| 19 | g.46756694T>A | CA406496960 | FKRP | c.1244T>A (p.Val415Glu) n.247-5139T>A n.247+8029T>A | |
| 19 | g.46756694T>C | CA9532281 | FKRP | c.1244T>C (p.Val415Ala) n.247-5139T>C n.247+8029T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756694T>G | CA406496961 | FKRP | c.1244T>G (p.Val415Gly) n.247-5139T>G n.247+8029T>G | |
| 19 | g.46756694T= | CA2339067759 | FKRP | c.1244T= (p.Val415=) n.247-5139T= n.247+8029T= | |
| 19 | g.46756695G>A | CA507975786 | FKRP | c.1245G>A (p.Val415=) n.247-5138G>A n.247+8030G>A | |
| 19 | g.46756695G>C | CA507975787 | FKRP | c.1245G>C (p.Val415=) n.247-5138G>C n.247+8030G>C | |
| 19 | g.46756695G>T | CA507975788 | FKRP | c.1245G>T (p.Val415=) n.247-5138G>T n.247+8030G>T | |
| 19 | g.46756696G>A | CA406496962 | FKRP | c.1246G>A (p.Asp416Asn) n.247-5137G>A n.247+8031G>A | |
| 19 | g.46756696G>C | CA406496963 | FKRP | c.1246G>C (p.Asp416His) n.247-5137G>C n.247+8031G>C | |
| 19 | g.46756696G>T | CA406496964 | FKRP | c.1246G>T (p.Asp416Tyr) n.247-5137G>T n.247+8031G>T | |
| 19 | g.46756697A>C | CA406496967 | FKRP | c.1247A>C (p.Asp416Ala) n.247-5136A>C n.247+8032A>C | |
| 19 | g.46756697A>G | CA406496965 | FKRP | c.1247A>G (p.Asp416Gly) n.247-5136A>G n.247+8032A>G | |
| 19 | g.46756697A>T | CA406496966 | FKRP | c.1247A>T (p.Asp416Val) n.247-5136A>T n.247+8032A>T | |
| 19 | g.46756698C>A | CA406496968 | FKRP | c.1248C>A (p.Asp416Glu) n.247-5135C>A n.247+8033C>A | |
| 19 | g.46756698C>G | CA406496969 | FKRP | c.1248C>G (p.Asp416Glu) n.247-5135C>G n.247+8033C>G | |
| 19 | g.46756698C>T | CA507975791 | FKRP | c.1248C>T (p.Asp416=) n.247-5135C>T n.247+8033C>T | |
| 19 | g.46756701_46756708dup | CA2585987501 | FKRP | c.1251_1258dup (p.Phe420CysfsTer11) n.247-5132_247-5125dup n.247+8036_247+8043dup | gnomAD v4 |
| 19 | g.46756699C>A | CA406496970 | FKRP | c.1249C>A (p.Leu417Met) n.247-5134C>A n.247+8034C>A | gnomAD v4 |
| 19 | g.46756699C>G | CA406496971 | FKRP | c.1249C>G (p.Leu417Val) n.247-5134C>G n.247+8034C>G | |
| 19 | g.46756699C>T | CA507975794 | FKRP | c.1249C>T (p.Leu417=) n.247-5134C>T n.247+8034C>T | ClinVar dbSNP |
| 19 | g.46756700T>A | CA406496972 | FKRP | c.1250T>A (p.Leu417Gln) n.247-5133T>A n.247+8035T>A | |
| 19 | g.46756700T>C | CA406496973 | FKRP | c.1250T>C (p.Leu417Pro) n.247-5133T>C n.247+8035T>C | |
| 19 | g.46756700T>G | CA406496974 | FKRP | c.1250T>G (p.Leu417Arg) n.247-5133T>G n.247+8035T>G | |
| 19 | g.46756701G>A | CA507975799 | FKRP | c.1251G>A (p.Leu417=) n.247-5132G>A n.247+8036G>A | ClinVar gnomAD v4 |
| 19 | g.46756701G>C | CA507975801 | FKRP | c.1251G>C (p.Leu417=) n.247-5132G>C n.247+8036G>C | |
| 19 | g.46756701G>T | CA507975802 | FKRP | c.1251G>T (p.Leu417=) n.247-5132G>T n.247+8036G>T | |
| 19 | g.46756702T>A | CA406496975 | FKRP | c.1252T>A (p.Trp418Arg) n.247-5131T>A n.247+8037T>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756702T>C | CA406496976 | FKRP | c.1252T>C (p.Trp418Arg) n.247-5131T>C n.247+8037T>C | gnomAD v4 |
| 19 | g.46756702T>G | CA406496977 | FKRP | c.1252T>G (p.Trp418Gly) n.247-5131T>G n.247+8037T>G | |
| 19 | g.46756702T= | CA2339067760 | FKRP | c.1252T= (p.Trp418=) n.247-5131T= n.247+8037T= | |
| 19 | g.46756703G>A | CA9532282 | FKRP | c.1253G>A (p.Trp418Ter) n.247-5130G>A n.247+8038G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756703G>C | CA406496979 | FKRP | c.1253G>C (p.Trp418Ser) n.247-5130G>C n.247+8038G>C | gnomAD v4 |
| 19 | g.46756703G= | CA2339067761 | FKRP | c.1253G= (p.Trp418=) n.247-5130G= n.247+8038G= | |
| 19 | g.46756703G>T | CA406496978 | FKRP | c.1253G>T (p.Trp418Leu) n.247-5130G>T n.247+8038G>T | |
| 19 | g.46756704G>A | CA406496980 | FKRP | c.1254G>A (p.Trp418Ter) n.247-5129G>A n.247+8039G>A | |
| 19 | g.46756704G>C | CA406496981 | FKRP | c.1254G>C (p.Trp418Cys) n.247-5129G>C n.247+8039G>C | |
| 19 | g.46756704G>T | CA406496982 | FKRP | c.1254G>T (p.Trp418Cys) n.247-5129G>T n.247+8039G>T | |
| 19 | g.46756704_46756706delinsGCC | CA2339067762 | FKRP | c.1254_1256delinsGCC (p.Trp418=) n.247-5129_247-5127delinsGCC n.247+8039_247+8041delinsGCC | |
| 19 | g.46756705C>A | CA406496983 | FKRP | c.1255C>A (p.Pro419Thr) n.247-5128C>A n.247+8040C>A | |
| 19 | g.46756705C= | CA2339067763 | FKRP | c.1255C= (p.Pro419=) n.247-5128C= n.247+8040C= | |
| 19 | g.46756705C>G | CA406496984 | FKRP | c.1255C>G (p.Pro419Ala) n.247-5128C>G n.247+8040C>G | |
| 19 | g.46756705C>T | CA406496985 | FKRP | c.1255C>T (p.Pro419Ser) n.247-5128C>T n.247+8040C>T | dbSNP gnomAD v2 |
| 19 | g.46756706_46756707del | CA10606163 | FKRP | c.1256_1257del (p.Pro419LeufsTer?) n.247-5127_247-5126del n.247+8041_247+8042del | ClinVar dbSNP |
| 19 | g.46756706C>A | CA406496986 | FKRP | c.1256C>A (p.Pro419His) n.247-5127C>A n.247+8041C>A | |
| 19 | g.46756706C>G | CA406496987 | FKRP | c.1256C>G (p.Pro419Arg) n.247-5127C>G n.247+8041C>G | |
| 19 | g.46756706C>T | CA406496988 | FKRP | c.1256C>T (p.Pro419Leu) n.247-5127C>T n.247+8041C>T | gnomAD v4 |
| 19 | g.46756707C>A | CA507975814 | FKRP | c.1257C>A (p.Pro419=) n.247-5126C>A n.247+8042C>A | gnomAD v4 |
| 19 | g.46756707C= | CA2339067764 | FKRP | c.1257C= (p.Pro419=) n.247-5126C= n.247+8042C= | |
| 19 | g.46756707C>G | CA507975816 | FKRP | c.1257C>G (p.Pro419=) n.247-5126C>G n.247+8042C>G | |
| 19 | g.46756707C>T | CA507975818 | FKRP | c.1257C>T (p.Pro419=) n.247-5126C>T n.247+8042C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756708T>A | CA406496989 | FKRP | c.1258T>A (p.Phe420Ile) n.247-5125T>A n.247+8043T>A | |
| 19 | g.46756708T>C | CA406496990 | FKRP | c.1258T>C (p.Phe420Leu) n.247-5125T>C n.247+8043T>C | |
| 19 | g.46756708T>G | CA406496991 | FKRP | c.1258T>G (p.Phe420Val) n.247-5125T>G n.247+8043T>G | |
| 19 | g.46756709T>A | CA406496994 | FKRP | c.1259T>A (p.Phe420Tyr) n.247-5124T>A n.247+8044T>A | |
| 19 | g.46756709T>C | CA406496992 | FKRP | c.1259T>C (p.Phe420Ser) n.247-5124T>C n.247+8044T>C | |
| 19 | g.46756709T>G | CA406496993 | FKRP | c.1259T>G (p.Phe420Cys) n.247-5124T>G n.247+8044T>G | |
| 19 | g.46756710C>A | CA406496995 | FKRP | c.1260C>A (p.Phe420Leu) n.247-5123C>A n.247+8045C>A | dbSNP gnomAD v4 |
| 19 | g.46756710C= | CA2339067765 | FKRP | c.1260C= (p.Phe420=) n.247-5123C= n.247+8045C= | |
| 19 | g.46756710C>G | CA406496996 | FKRP | c.1260C>G (p.Phe420Leu) n.247-5123C>G n.247+8045C>G | COSMIC |
| 19 | g.46756710C>T | CA507975823 | FKRP | c.1260C>T (p.Phe420=) n.247-5123C>T n.247+8045C>T | |
| 19 | g.46756711T>A | CA406496997 | FKRP | c.1261T>A (p.Tyr421Asn) n.247-5122T>A n.247+8046T>A | gnomAD v4 |
| 19 | g.46756711T>C | CA406496998 | FKRP | c.1261T>C (p.Tyr421His) n.247-5122T>C n.247+8046T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756711T>G | CA406496999 | FKRP | c.1261T>G (p.Tyr421Asp) n.247-5122T>G n.247+8046T>G | |
| 19 | g.46756711T= | CA2339067766 | FKRP | c.1261T= (p.Tyr421=) n.247-5122T= n.247+8046T= | |
| 19 | g.46756712A>C | CA406497000 | FKRP | c.1262A>C (p.Tyr421Ser) n.247-5121A>C n.247+8047A>C | |
| 19 | g.46756712A>G | CA406497001 | FKRP | c.1262A>G (p.Tyr421Cys) n.247-5121A>G n.247+8047A>G | |
| 19 | g.46756712A>T | CA406497002 | FKRP | c.1262A>T (p.Tyr421Phe) n.247-5121A>T n.247+8047A>T | |
| 19 | g.46756712_46756713delinsAC | CA2339067767 | FKRP | c.1262_1263delinsAC (p.Tyr421=) n.247-5121_247-5120delinsAC n.247+8047_247+8048delinsAC | |
| 19 | g.46756713C>A | CA406497003 | FKRP | c.1263C>A (p.Tyr421Ter) n.247-5120C>A n.247+8048C>A | |
| 19 | g.46756713C= | CA2339067768 | FKRP | c.1263C= (p.Tyr421=) n.247-5120C= n.247+8048C= | |
| 19 | g.46756713C>G | CA406497004 | FKRP | c.1263C>G (p.Tyr421Ter) n.247-5120C>G n.247+8048C>G | |
| 19 | g.46756713C>T | CA9532283 | FKRP | c.1263C>T (p.Tyr421=) n.247-5120C>T n.247+8048C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.46756717del | CA10606326 | FKRP | c.1267del (p.Arg423AlafsTer5) n.247-5116del n.247+8052del | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756714C>A | CA406497005 | FKRP | c.1264C>A (p.Pro422Thr) n.247-5119C>A n.247+8049C>A | |
| 19 | g.46756714C>G | CA406497007 | FKRP | c.1264C>G (p.Pro422Ala) n.247-5119C>G n.247+8049C>G | |
| 19 | g.46756714C>T | CA406497006 | FKRP | c.1264C>T (p.Pro422Ser) n.247-5119C>T n.247+8049C>T | gnomAD v4 |
| 19 | g.46756715C>A | CA406497008 | FKRP | c.1265C>A (p.Pro422His) n.247-5118C>A n.247+8050C>A | |
| 19 | g.46756715C>G | CA406497010 | FKRP | c.1265C>G (p.Pro422Arg) n.247-5118C>G n.247+8050C>G | |
| 19 | g.46756715C>T | CA406497009 | FKRP | c.1265C>T (p.Pro422Leu) n.247-5118C>T n.247+8050C>T | |
| 19 | g.46756716C>A | CA507975849 | FKRP | c.1266C>A (p.Pro422=) n.247-5117C>A n.247+8051C>A | |
| 19 | g.46756716C= | CA2339067769 | FKRP | c.1266C= (p.Pro422=) n.247-5117C= n.247+8051C= | |
| 19 | g.46756716C>G | CA9532284 | FKRP | c.1266C>G (p.Pro422=) n.247-5117C>G n.247+8051C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756716C>T | CA507975851 | FKRP | c.1266C>T (p.Pro422=) n.247-5117C>T n.247+8051C>T | |
| 19 | g.46756717C>A | CA406497012 | FKRP | c.1267C>A (p.Arg423Ser) n.247-5116C>A n.247+8052C>A | dbSNP |
| 19 | g.46756717C>G | CA406497013 | FKRP | c.1267C>G (p.Arg423Gly) n.247-5116C>G n.247+8052C>G | gnomAD v4 |
| 19 | g.46756717C>T | CA406497011 | FKRP | c.1267C>T (p.Arg423Cys) n.247-5116C>T n.247+8052C>T | gnomAD v4 |
| 19 | g.46756718G>A | CA406497014 | FKRP | c.1268G>A (p.Arg423His) n.247-5115G>A n.247+8053G>A | gnomAD v4 |
| 19 | g.46756718G>C | CA10604132 | FKRP | c.1268G>C (p.Arg423Pro) n.247-5115G>C n.247+8053G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756718G= | CA2339067770 | FKRP | c.1268G= (p.Arg423=) n.247-5115G= n.247+8053G= | |
| 19 | g.46756718G>T | CA406497015 | FKRP | c.1268G>T (p.Arg423Leu) n.247-5115G>T n.247+8053G>T | gnomAD v4 |
| 19 | g.46756719C>A | CA9532285 | FKRP | c.1269C>A (p.Arg423=) n.247-5114C>A n.247+8054C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756719C= | CA2339067771 | FKRP | c.1269C= (p.Arg423=) n.247-5114C= n.247+8054C= | |
| 19 | g.46756719C>G | CA507975858 | FKRP | c.1269C>G (p.Arg423=) n.247-5114C>G n.247+8054C>G | |
| 19 | g.46756719C>T | CA507975860 | FKRP | c.1269C>T (p.Arg423=) n.247-5114C>T n.247+8054C>T | |
| 19 | g.46756719_46756720insT | CA9532286 | FKRP | c.1269_1270insT (p.Asn424Ter) n.247-5114_247-5113insT n.247+8054_247+8055insT | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.46756720A= | CA2339067772 | FKRP | c.1270A= (p.Asn424=) n.247-5113A= n.247+8055A= | |
| 19 | g.46756720A>C | CA9532287 | FKRP | c.1270A>C (p.Asn424His) n.247-5113A>C n.247+8055A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756720A>G | CA406497016 | FKRP | c.1270A>G (p.Asn424Asp) n.247-5113A>G n.247+8055A>G | |
| 19 | g.46756720A>T | CA406497017 | FKRP | c.1270A>T (p.Asn424Tyr) n.247-5113A>T n.247+8055A>T | |
| 19 | g.46756721A= | CA2339067773 | FKRP | c.1271A= (p.Asn424=) n.247-5112A= n.247+8056A= | |
| 19 | g.46756721A>C | CA406497019 | FKRP | c.1271A>C (p.Asn424Thr) n.247-5112A>C n.247+8056A>C | |
| 19 | g.46756721A>G | CA309099934 | FKRP | c.1271A>G (p.Asn424Ser) n.247-5112A>G n.247+8056A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756721A>T | CA406497018 | FKRP | c.1271A>T (p.Asn424Ile) n.247-5112A>T n.247+8056A>T | |
| 19 | g.46756722T>A | CA406497020 | FKRP | c.1272T>A (p.Asn424Lys) n.247-5111T>A n.247+8057T>A | |
| 19 | g.46756722T>C | CA507975875 | FKRP | c.1272T>C (p.Asn424=) n.247-5111T>C n.247+8057T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756722T>G | CA406497021 | FKRP | c.1272T>G (p.Asn424Lys) n.247-5111T>G n.247+8057T>G | |
| 19 | g.46756722T= | CA2339067774 | FKRP | c.1272T= (p.Asn424=) n.247-5111T= n.247+8057T= | |
| 19 | g.46756723G>A | CA406497022 | FKRP | c.1273G>A (p.Gly425Ser) n.247-5110G>A n.247+8058G>A | |
| 19 | g.46756723G>C | CA406497023 | FKRP | c.1273G>C (p.Gly425Arg) n.247-5110G>C n.247+8058G>C | |
| 19 | g.46756723G>T | CA406497024 | FKRP | c.1273G>T (p.Gly425Cys) n.247-5110G>T n.247+8058G>T | |
| 19 | g.46756724G>A | CA406497025 | FKRP | c.1274G>A (p.Gly425Asp) n.247-5109G>A n.247+8059G>A | ClinVar |
| 19 | g.46756724G>C | CA9532288 | FKRP | c.1274G>C (p.Gly425Ala) n.247-5109G>C n.247+8059G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756724G= | CA2339067775 | FKRP | c.1274G= (p.Gly425=) n.247-5109G= n.247+8059G= | |
| 19 | g.46756724G>T | CA406497026 | FKRP | c.1274G>T (p.Gly425Val) n.247-5109G>T n.247+8059G>T | |
| 19 | g.46756725C>A | CA507975887 | FKRP | c.1275C>A (p.Gly425=) n.247-5108C>A n.247+8060C>A | dbSNP gnomAD v2 |
| 19 | g.46756725C= | CA2339067776 | FKRP | c.1275C= (p.Gly425=) n.247-5108C= n.247+8060C= | |
| 19 | g.46756725C>G | CA507975884 | FKRP | c.1275C>G (p.Gly425=) n.247-5108C>G n.247+8060C>G | |
| 19 | g.46756725C>T | CA507975886 | FKRP | c.1275C>T (p.Gly425=) n.247-5108C>T n.247+8060C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756726G>A | CA406497027 | FKRP | c.1276G>A (p.Val426Ile) n.247-5107G>A n.247+8061G>A | gnomAD v4 |
| 19 | g.46756726G>C | CA406497028 | FKRP | c.1276G>C (p.Val426Leu) n.247-5107G>C n.247+8061G>C | |
| 19 | g.46756726G= | CA2339067777 | FKRP | c.1276G= (p.Val426=) n.247-5107G= n.247+8061G= | |
| 19 | g.46756726G>T | CA406497029 | FKRP | c.1276G>T (p.Val426Phe) n.247-5107G>T n.247+8061G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756727T>A | CA406497031 | FKRP | c.1277T>A (p.Val426Asp) n.247-5106T>A n.247+8062T>A | |
| 19 | g.46756727T>C | CA406497032 | FKRP | c.1277T>C (p.Val426Ala) n.247-5106T>C n.247+8062T>C | |
| 19 | g.46756727T>G | CA406497030 | FKRP | c.1277T>G (p.Val426Gly) n.247-5106T>G n.247+8062T>G | |
| 19 | g.46756728C>A | CA507975890 | FKRP | c.1278C>A (p.Val426=) n.247-5105C>A n.247+8063C>A | |
| 19 | g.46756728C>G | CA507975894 | FKRP | c.1278C>G (p.Val426=) n.247-5105C>G n.247+8063C>G | |
| 19 | g.46756728C>T | CA507975895 | FKRP | c.1278C>T (p.Val426=) n.247-5105C>T n.247+8063C>T | |
| 19 | g.46756729A= | CA2339067778 | FKRP | c.1279A= (p.Met427=) n.247-5104A= n.247+8064A= | |
| 19 | g.46756729A>C | CA406497033 | FKRP | c.1279A>C (p.Met427Leu) n.247-5104A>C n.247+8064A>C | |
| 19 | g.46756729A>G | CA406497034 | FKRP | c.1279A>G (p.Met427Val) n.247-5104A>G n.247+8064A>G | dbSNP |
| 19 | g.46756729A>T | CA406497035 | FKRP | c.1279A>T (p.Met427Leu) n.247-5104A>T n.247+8064A>T | |
| 19 | g.46756730T>A | CA406497036 | FKRP | c.1280T>A (p.Met427Lys) n.247-5103T>A n.247+8065T>A | |
| 19 | g.46756730T>C | CA406497037 | FKRP | c.1280T>C (p.Met427Thr) n.247-5103T>C n.247+8065T>C | |
| 19 | g.46756730T>G | CA406497038 | FKRP | c.1280T>G (p.Met427Arg) n.247-5103T>G n.247+8065T>G | |
| 19 | g.46756731G>A | CA406497039 | FKRP | c.1281G>A (p.Met427Ile) n.247-5102G>A n.247+8066G>A | |
| 19 | g.46756731G>C | CA406497040 | FKRP | c.1281G>C (p.Met427Ile) n.247-5102G>C n.247+8066G>C | |
| 19 | g.46756731G>T | CA406497041 | FKRP | c.1281G>T (p.Met427Ile) n.247-5102G>T n.247+8066G>T | |
| 19 | g.46756732A= | CA2339067779 | FKRP | c.1282A= (p.Thr428=) n.247-5101A= n.247+8067A= | |
| 19 | g.46756732A>C | CA406497042 | FKRP | c.1282A>C (p.Thr428Pro) n.247-5101A>C n.247+8067A>C | |
| 19 | g.46756732A>G | CA10604690 | FKRP | c.1282A>G (p.Thr428Ala) n.247-5101A>G n.247+8067A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756732A>T | CA406497043 | FKRP | c.1282A>T (p.Thr428Ser) n.247-5101A>T n.247+8067A>T | |
| 19 | g.46756733C>A | CA406497045 | FKRP | c.1283C>A (p.Thr428Asn) n.247-5100C>A n.247+8068C>A | |
| 19 | g.46756733C>G | CA406497046 | FKRP | c.1283C>G (p.Thr428Ser) n.247-5100C>G n.247+8068C>G | gnomAD v4 |
| 19 | g.46756733C>T | CA406497044 | FKRP | c.1283C>T (p.Thr428Ile) n.247-5100C>T n.247+8068C>T | |
| 19 | g.46756733_46756757del | CA2585987502 | FKRP | c.1283_1307del (p.Thr428SerfsTer?) n.247-5100_247-5076del n.247+8068_247+8092del | gnomAD v4 |
| 19 | g.46756734C>A | CA507975907 | FKRP | c.1284C>A (p.Thr428=) n.247-5099C>A n.247+8069C>A | |
| 19 | g.46756734C>G | CA507975910 | FKRP | c.1284C>G (p.Thr428=) n.247-5099C>G n.247+8069C>G | |
| 19 | g.46756734C>T | CA507975911 | FKRP | c.1284C>T (p.Thr428=) n.247-5099C>T n.247+8069C>T | |
| 19 | g.46756735A= | CA2339067780 | FKRP | c.1285A= (p.Lys429=) n.247-5098A= n.247+8070A= | |
| 19 | g.46756735A>C | CA406497047 | FKRP | c.1285A>C (p.Lys429Gln) n.247-5098A>C n.247+8070A>C | |
| 19 | g.46756735A>G | CA9532289 | FKRP | c.1285A>G (p.Lys429Glu) n.247-5098A>G n.247+8070A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756735A>T | CA406497048 | FKRP | c.1285A>T (p.Lys429Ter) n.247-5098A>T n.247+8070A>T |