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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 19 | g.46756736A>C | CA406497049 | FKRP | c.1286A>C (p.Lys429Thr) n.247-5097A>C n.247+8071A>C | |
| 19 | g.46756736A>G | CA406497050 | FKRP | c.1286A>G (p.Lys429Arg) n.247-5097A>G n.247+8071A>G | |
| 19 | g.46756736A>T | CA406497051 | FKRP | c.1286A>T (p.Lys429Met) n.247-5097A>T n.247+8071A>T | |
| 19 | g.46756737G>A | CA507975918 | FKRP | c.1287G>A (p.Lys429=) n.247-5096G>A n.247+8072G>A | ClinVar dbSNP |
| 19 | g.46756737G>C | CA406497052 | FKRP | c.1287G>C (p.Lys429Asn) n.247-5096G>C n.247+8072G>C | |
| 19 | g.46756737G>T | CA406497053 | FKRP | c.1287G>T (p.Lys429Asn) n.247-5096G>T n.247+8072G>T | gnomAD v4 |
| 19 | g.46756738G>A | CA406497054 | FKRP | c.1288G>A (p.Asp430Asn) n.247-5095G>A n.247+8073G>A | |
| 19 | g.46756738G>C | CA406497055 | FKRP | c.1288G>C (p.Asp430His) n.247-5095G>C n.247+8073G>C | |
| 19 | g.46756738G>T | CA406497056 | FKRP | c.1288G>T (p.Asp430Tyr) n.247-5095G>T n.247+8073G>T | gnomAD v4 |
| 19 | g.46756739A= | CA2339067781 | FKRP | c.1289A= (p.Asp430=) n.247-5094A= n.247+8074A= | |
| 19 | g.46756739A>C | CA406497057 | FKRP | c.1289A>C (p.Asp430Ala) n.247-5094A>C n.247+8074A>C | |
| 19 | g.46756739A>G | CA406497058 | FKRP | c.1289A>G (p.Asp430Gly) n.247-5094A>G n.247+8074A>G | dbSNP gnomAD v4 |
| 19 | g.46756739A>T | CA406497059 | FKRP | c.1289A>T (p.Asp430Val) n.247-5094A>T n.247+8074A>T | |
| 19 | g.46756740C>A | CA406497061 | FKRP | c.1290C>A (p.Asp430Glu) n.247-5093C>A n.247+8075C>A | |
| 19 | g.46756740C>G | CA406497060 | FKRP | c.1290C>G (p.Asp430Glu) n.247-5093C>G n.247+8075C>G | |
| 19 | g.46756740C>T | CA507975926 | FKRP | c.1290C>T (p.Asp430=) n.247-5093C>T n.247+8075C>T | |
| 19 | g.46756741A= | CA2339067782 | FKRP | c.1291A= (p.Thr431=) n.247-5092A= n.247+8076A= | |
| 19 | g.46756741A>C | CA406497062 | FKRP | c.1291A>C (p.Thr431Pro) n.247-5092A>C n.247+8076A>C | |
| 19 | g.46756741A>G | CA16616308 | FKRP | c.1291A>G (p.Thr431Ala) n.247-5092A>G n.247+8076A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756741A>T | CA406497063 | FKRP | c.1291A>T (p.Thr431Ser) n.247-5092A>T n.247+8076A>T | |
| 19 | g.46756742C>A | CA406497064 | FKRP | c.1292C>A (p.Thr431Lys) n.247-5091C>A n.247+8077C>A | gnomAD v4 |
| 19 | g.46756742C>G | CA406497065 | FKRP | c.1292C>G (p.Thr431Arg) n.247-5091C>G n.247+8077C>G | |
| 19 | g.46756742C>T | CA406497066 | FKRP | c.1292C>T (p.Thr431Met) n.247-5091C>T n.247+8077C>T | gnomAD v4 |
| 19 | g.46756743G>A | CA507975933 | FKRP | c.1293G>A (p.Thr431=) n.247-5090G>A n.247+8078G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756743G>C | CA507975936 | FKRP | c.1293G>C (p.Thr431=) n.247-5090G>C n.247+8078G>C | |
| 19 | g.46756743G= | CA2339067783 | FKRP | c.1293G= (p.Thr431=) n.247-5090G= n.247+8078G= | |
| 19 | g.46756743G>T | CA507975937 | FKRP | c.1293G>T (p.Thr431=) n.247-5090G>T n.247+8078G>T | |
| 19 | g.46756744T>A | CA406497067 | FKRP | c.1294T>A (p.Trp432Arg) n.247-5089T>A n.247+8079T>A | gnomAD v4 |
| 19 | g.46756744T>C | CA406497068 | FKRP | c.1294T>C (p.Trp432Arg) n.247-5089T>C n.247+8079T>C | gnomAD v4 |
| 19 | g.46756744T>G | CA406497069 | FKRP | c.1294T>G (p.Trp432Gly) n.247-5089T>G n.247+8079T>G | |
| 19 | g.46756745G>A | CA406497070 | FKRP | c.1295G>A (p.Trp432Ter) n.247-5088G>A n.247+8080G>A | |
| 19 | g.46756745G>C | CA406497071 | FKRP | c.1295G>C (p.Trp432Ser) n.247-5088G>C n.247+8080G>C | |
| 19 | g.46756745G>T | CA406497072 | FKRP | c.1295G>T (p.Trp432Leu) n.247-5088G>T n.247+8080G>T | gnomAD v4 |
| 19 | g.46756746G>A | CA406497073 | FKRP | c.1296G>A (p.Trp432Ter) n.247-5087G>A n.247+8081G>A | ClinVar dbSNP |
| 19 | g.46756746G>C | CA406497074 | FKRP | c.1296G>C (p.Trp432Cys) n.247-5087G>C n.247+8081G>C | |
| 19 | g.46756746G= | CA2339067784 | FKRP | c.1296G= (p.Trp432=) n.247-5087G= n.247+8081G= | |
| 19 | g.46756746G>T | CA406497075 | FKRP | c.1296G>T (p.Trp432Cys) n.247-5087G>T n.247+8081G>T | gnomAD v4 |
| 19 | g.46756747C>A | CA406497077 | FKRP | c.1297C>A (p.Leu433Met) n.247-5086C>A n.247+8082C>A | gnomAD v4 COSMIC |
| 19 | g.46756747C>G | CA406497076 | FKRP | c.1297C>G (p.Leu433Val) n.247-5086C>G n.247+8082C>G | |
| 19 | g.46756747C>T | CA507975946 | FKRP | c.1297C>T (p.Leu433=) n.247-5086C>T n.247+8082C>T | gnomAD v4 |
| 19 | g.46756748T>A | CA406497078 | FKRP | c.1298T>A (p.Leu433Gln) n.247-5085T>A n.247+8083T>A | |
| 19 | g.46756748T>C | CA9532290 | FKRP | c.1298T>C (p.Leu433Pro) n.247-5085T>C n.247+8083T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756748T>G | CA406497079 | FKRP | c.1298T>G (p.Leu433Arg) n.247-5085T>G n.247+8083T>G | |
| 19 | g.46756748T= | CA2339067785 | FKRP | c.1298T= (p.Leu433=) n.247-5085T= n.247+8083T= | |
| 19 | g.46756749G>A | CA507975952 | FKRP | c.1299G>A (p.Leu433=) n.247-5084G>A n.247+8084G>A | gnomAD v4 |
| 19 | g.46756749G>C | CA507975953 | FKRP | c.1299G>C (p.Leu433=) n.247-5084G>C n.247+8084G>C | ClinVar dbSNP |
| 19 | g.46756749G= | CA2339067786 | FKRP | c.1299G= (p.Leu433=) n.247-5084G= n.247+8084G= | |
| 19 | g.46756749G>T | CA507975954 | FKRP | c.1299G>T (p.Leu433=) n.247-5084G>T n.247+8084G>T | |
| 19 | g.46756750G>A | CA406497080 | FKRP | c.1300G>A (p.Asp434Asn) n.247-5083G>A n.247+8085G>A | gnomAD v4 |
| 19 | g.46756750G>C | CA406497081 | FKRP | c.1300G>C (p.Asp434His) n.247-5083G>C n.247+8085G>C | |
| 19 | g.46756750G>T | CA406497082 | FKRP | c.1300G>T (p.Asp434Tyr) n.247-5083G>T n.247+8085G>T | |
| 19 | g.46756751A>C | CA406497085 | FKRP | c.1301A>C (p.Asp434Ala) n.247-5082A>C n.247+8086A>C | |
| 19 | g.46756751A>G | CA406497083 | FKRP | c.1301A>G (p.Asp434Gly) n.247-5082A>G n.247+8086A>G | ClinVar gnomAD v4 |
| 19 | g.46756751A>T | CA406497084 | FKRP | c.1301A>T (p.Asp434Val) n.247-5082A>T n.247+8086A>T | |
| 19 | g.46756752C>A | CA406497086 | FKRP | c.1302C>A (p.Asp434Glu) n.247-5081C>A n.247+8087C>A | |
| 19 | g.46756752C>G | CA406497087 | FKRP | c.1302C>G (p.Asp434Glu) n.247-5081C>G n.247+8087C>G | |
| 19 | g.46756752C>T | CA507975963 | FKRP | c.1302C>T (p.Asp434=) n.247-5081C>T n.247+8087C>T | gnomAD v4 |
| 19 | g.46756753C>A | CA406497088 | FKRP | c.1303C>A (p.His435Asn) n.247-5080C>A n.247+8088C>A | |
| 19 | g.46756753C>G | CA406497089 | FKRP | c.1303C>G (p.His435Asp) n.247-5080C>G n.247+8088C>G | |
| 19 | g.46756753C>T | CA406497090 | FKRP | c.1303C>T (p.His435Tyr) n.247-5080C>T n.247+8088C>T | gnomAD v4 |
| 19 | g.46756754A>C | CA406497091 | FKRP | c.1304A>C (p.His435Pro) n.247-5079A>C n.247+8089A>C | |
| 19 | g.46756754A>G | CA406497093 | FKRP | c.1304A>G (p.His435Arg) n.247-5079A>G n.247+8089A>G | |
| 19 | g.46756754A>T | CA406497092 | FKRP | c.1304A>T (p.His435Leu) n.247-5079A>T n.247+8089A>T | |
| 19 | g.46756755C>A | CA406497094 | FKRP | c.1305C>A (p.His435Gln) n.247-5078C>A n.247+8090C>A | gnomAD v4 |
| 19 | g.46756755C>G | CA406497095 | FKRP | c.1305C>G (p.His435Gln) n.247-5078C>G n.247+8090C>G | |
| 19 | g.46756755C>T | CA507975969 | FKRP | c.1305C>T (p.His435=) n.247-5078C>T n.247+8090C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756756C>A | CA9532292 | FKRP | c.1306C>A (p.Arg436=) n.247-5077C>A n.247+8091C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756756C= | CA2339067787 | FKRP | c.1306C= (p.Arg436=) n.247-5077C= n.247+8091C= | |
| 19 | g.46756756C>G | CA406497096 | FKRP | c.1306C>G (p.Arg436Gly) n.247-5077C>G n.247+8091C>G | |
| 19 | g.46756756C>T | CA9532291 | FKRP | c.1306C>T (p.Arg436Trp) n.247-5077C>T n.247+8091C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756756_46756757dup | CA2740096943 | FKRP | c.1306_1307dup (p.Gln437GlyfsTer?) n.247-5077_247-5076dup n.247+8091_247+8092dup | ClinVar |
| 19 | g.46756757G>A | CA9532293 | FKRP | c.1307G>A (p.Arg436Gln) n.247-5076G>A n.247+8092G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756757G>C | CA406497097 | FKRP | c.1307G>C (p.Arg436Pro) n.247-5076G>C n.247+8092G>C | dbSNP gnomAD v4 |
| 19 | g.46756757G= | CA2339067788 | FKRP | c.1307G= (p.Arg436=) n.247-5076G= n.247+8092G= | |
| 19 | g.46756757G>T | CA406497098 | FKRP | c.1307G>T (p.Arg436Leu) n.247-5076G>T n.247+8092G>T | |
| 19 | g.46756758G>A | CA507975977 | FKRP | c.1308G>A (p.Arg436=) n.247-5075G>A n.247+8093G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756758G>C | CA507975979 | FKRP | c.1308G>C (p.Arg436=) n.247-5075G>C n.247+8093G>C | gnomAD v4 |
| 19 | g.46756758G= | CA2339067789 | FKRP | c.1308G= (p.Arg436=) n.247-5075G= n.247+8093G= | |
| 19 | g.46756758G>T | CA507975981 | FKRP | c.1308G>T (p.Arg436=) n.247-5075G>T n.247+8093G>T | gnomAD v4 |
| 19 | g.46756759_46756761del | CA2585987503 | FKRP | c.1309_1311del (p.Gln437del) n.247-5074_247-5072del n.247+8094_247+8096del | gnomAD v4 |
| 19 | g.46756759C>A | CA406497099 | FKRP | c.1309C>A (p.Gln437Lys) n.247-5074C>A n.247+8094C>A | ClinVar dbSNP |
| 19 | g.46756759C= | CA2339067790 | FKRP | c.1309C= (p.Gln437=) n.247-5074C= n.247+8094C= | |
| 19 | g.46756759C>G | CA406497100 | FKRP | c.1309C>G (p.Gln437Glu) n.247-5074C>G n.247+8094C>G | |
| 19 | g.46756759C>T | CA406497101 | FKRP | c.1309C>T (p.Gln437Ter) n.247-5074C>T n.247+8094C>T | |
| 19 | g.46756760A>C | CA406497102 | FKRP | c.1310A>C (p.Gln437Pro) n.247-5073A>C n.247+8095A>C | |
| 19 | g.46756760A>G | CA406497103 | FKRP | c.1310A>G (p.Gln437Arg) n.247-5073A>G n.247+8095A>G | ClinVar dbSNP |
| 19 | g.46756760A>T | CA406497104 | FKRP | c.1310A>T (p.Gln437Leu) n.247-5073A>T n.247+8095A>T | gnomAD v4 |
| 19 | g.46756761G>A | CA507975983 | FKRP | c.1311G>A (p.Gln437=) n.247-5072G>A n.247+8096G>A | |
| 19 | g.46756761G>C | CA406497105 | FKRP | c.1311G>C (p.Gln437His) n.247-5072G>C n.247+8096G>C | |
| 19 | g.46756761G>T | CA406497106 | FKRP | c.1311G>T (p.Gln437His) n.247-5072G>T n.247+8096G>T | gnomAD v4 |
| 19 | g.46756761_46756773del | CA2585987504 | FKRP | c.1311_1323del (p.Gln437HisfsTer?) n.247-5072_247-5060del n.247+8096_247+8108del | gnomAD v4 |
| 19 | g.46756762G>A | CA406497107 | FKRP | c.1312G>A (p.Asp438Asn) n.247-5071G>A n.247+8097G>A | |
| 19 | g.46756762G>C | CA406497108 | FKRP | c.1312G>C (p.Asp438His) n.247-5071G>C n.247+8097G>C | |
| 19 | g.46756762G>T | CA406497109 | FKRP | c.1312G>T (p.Asp438Tyr) n.247-5071G>T n.247+8097G>T | gnomAD v4 |
| 19 | g.46756763A>C | CA406497110 | FKRP | c.1313A>C (p.Asp438Ala) n.247-5070A>C n.247+8098A>C | |
| 19 | g.46756763A>G | CA406497111 | FKRP | c.1313A>G (p.Asp438Gly) n.247-5070A>G n.247+8098A>G | |
| 19 | g.46756763A>T | CA406497112 | FKRP | c.1313A>T (p.Asp438Val) n.247-5070A>T n.247+8098A>T | gnomAD v4 |
| 19 | g.46756764T>A | CA406497113 | FKRP | c.1314T>A (p.Asp438Glu) n.247-5069T>A n.247+8099T>A | |
| 19 | g.46756764T>C | CA507975993 | FKRP | c.1314T>C (p.Asp438=) n.247-5069T>C n.247+8099T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756764T>G | CA406497114 | FKRP | c.1314T>G (p.Asp438Glu) n.247-5069T>G n.247+8099T>G | |
| 19 | g.46756764T= | CA2339067791 | FKRP | c.1314T= (p.Asp438=) n.247-5069T= n.247+8099T= | |
| 19 | g.46756765G>A | CA406497115 | FKRP | c.1315G>A (p.Val439Met) n.247-5068G>A n.247+8100G>A | ClinVar |
| 19 | g.46756765G>C | CA406497116 | FKRP | c.1315G>C (p.Val439Leu) n.247-5068G>C n.247+8100G>C | |
| 19 | g.46756765G>T | CA406497117 | FKRP | c.1315G>T (p.Val439Leu) n.247-5068G>T n.247+8100G>T | |
| 19 | g.46756766T>A | CA9532294 | FKRP | c.1316T>A (p.Val439Glu) n.247-5067T>A n.247+8101T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756766T>C | CA406497119 | FKRP | c.1316T>C (p.Val439Ala) n.247-5067T>C n.247+8101T>C | |
| 19 | g.46756766T>G | CA406497118 | FKRP | c.1316T>G (p.Val439Gly) n.247-5067T>G n.247+8101T>G | |
| 19 | g.46756766T= | CA2339067792 | FKRP | c.1316T= (p.Val439=) n.247-5067T= n.247+8101T= | |
| 19 | g.46756767G>A | CA9532295 | FKRP | c.1317G>A (p.Val439=) n.247-5066G>A n.247+8102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756767G>C | CA507976005 | FKRP | c.1317G>C (p.Val439=) n.247-5066G>C n.247+8102G>C | |
| 19 | g.46756767G= | CA2339067793 | FKRP | c.1317G= (p.Val439=) n.247-5066G= n.247+8102G= | |
| 19 | g.46756767G>T | CA507976006 | FKRP | c.1317G>T (p.Val439=) n.247-5066G>T n.247+8102G>T | |
| 19 | g.46756768G>A | CA406497121 | FKRP | c.1318G>A (p.Glu440Lys) n.247-5065G>A n.247+8103G>A | |
| 19 | g.46756768G>C | CA406497120 | FKRP | c.1318G>C (p.Glu440Gln) n.247-5065G>C n.247+8103G>C | |
| 19 | g.46756768G>T | CA406497122 | FKRP | c.1318G>T (p.Glu440Ter) n.247-5065G>T n.247+8103G>T | gnomAD v4 |
| 19 | g.46756769_46756770del | CA2576826110 | FKRP | c.1319_1320del (p.Glu440ValfsTer23) n.247-5064_247-5063del n.247+8104_247+8105del | |
| 19 | g.46756769A>C | CA406497123 | FKRP | c.1319A>C (p.Glu440Ala) n.247-5064A>C n.247+8104A>C | |
| 19 | g.46756769A>G | CA406497124 | FKRP | c.1319A>G (p.Glu440Gly) n.247-5064A>G n.247+8104A>G | |
| 19 | g.46756769A>T | CA406497125 | FKRP | c.1319A>T (p.Glu440Val) n.247-5064A>T n.247+8104A>T | |
| 19 | g.46756770G>A | CA9532296 | FKRP | c.1320G>A (p.Glu440=) n.247-5063G>A n.247+8105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756770G>C | CA406497126 | FKRP | c.1320G>C (p.Glu440Asp) n.247-5063G>C n.247+8105G>C | |
| 19 | g.46756770G= | CA2339067794 | FKRP | c.1320G= (p.Glu440=) n.247-5063G= n.247+8105G= | |
| 19 | g.46756770G>T | CA406497127 | FKRP | c.1320G>T (p.Glu440Asp) n.247-5063G>T n.247+8105G>T | |
| 19 | g.46756771T>A | CA406497128 | FKRP | c.1321T>A (p.Phe441Ile) n.247-5062T>A n.247+8106T>A | dbSNP |
| 19 | g.46756771T>C | CA406497129 | FKRP | c.1321T>C (p.Phe441Leu) n.247-5062T>C n.247+8106T>C | |
| 19 | g.46756771T>G | CA406497130 | FKRP | c.1321T>G (p.Phe441Val) n.247-5062T>G n.247+8106T>G | |
| 19 | g.46756771T= | CA2339067795 | FKRP | c.1321T= (p.Phe441=) n.247-5062T= n.247+8106T= | |
| 19 | g.46756773del | CA2585987505 | FKRP | c.1323del (p.Glu443SerfsTer?) n.247-5060del n.247+8108del | gnomAD v4 |
| 19 | g.46756772T>A | CA406497131 | FKRP | c.1322T>A (p.Phe441Tyr) n.247-5061T>A n.247+8107T>A | |
| 19 | g.46756772T>C | CA406497132 | FKRP | c.1322T>C (p.Phe441Ser) n.247-5061T>C n.247+8107T>C | |
| 19 | g.46756772T>G | CA406497133 | FKRP | c.1322T>G (p.Phe441Cys) n.247-5061T>G n.247+8107T>G | |
| 19 | g.46756773T>A | CA406497134 | FKRP | c.1323T>A (p.Phe441Leu) n.247-5060T>A n.247+8108T>A | |
| 19 | g.46756773T>C | CA507976018 | FKRP | c.1323T>C (p.Phe441=) n.247-5060T>C n.247+8108T>C | dbSNP |
| 19 | g.46756773T>G | CA10606861 | FKRP | c.1323T>G (p.Phe441Leu) n.247-5060T>G n.247+8108T>G | ClinVar dbSNP |
| 19 | g.46756773T= | CA2339067796 | FKRP | c.1323T= (p.Phe441=) n.247-5060T= n.247+8108T= | |
| 19 | g.46756774C>A | CA406497135 | FKRP | c.1324C>A (p.Pro442Thr) n.247-5059C>A n.247+8109C>A | |
| 19 | g.46756774C>G | CA406497136 | FKRP | c.1324C>G (p.Pro442Ala) n.247-5059C>G n.247+8109C>G | |
| 19 | g.46756774C>T | CA406497137 | FKRP | c.1324C>T (p.Pro442Ser) n.247-5059C>T n.247+8109C>T | |
| 19 | g.46756775C>A | CA406497138 | FKRP | c.1325C>A (p.Pro442His) n.247-5058C>A n.247+8110C>A | gnomAD v4 |
| 19 | g.46756775C= | CA2339067797 | FKRP | c.1325C= (p.Pro442=) n.247-5058C= n.247+8110C= | |
| 19 | g.46756775C>G | CA406497139 | FKRP | c.1325C>G (p.Pro442Arg) n.247-5058C>G n.247+8110C>G | |
| 19 | g.46756775C>T | CA9532297 | FKRP | c.1325C>T (p.Pro442Leu) n.247-5058C>T n.247+8110C>T | dbSNP ExAC |
| 19 | g.46756776C>A | CA507976026 | FKRP | c.1326C>A (p.Pro442=) n.247-5057C>A n.247+8111C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756776C= | CA2339067798 | FKRP | c.1326C= (p.Pro442=) n.247-5057C= n.247+8111C= | |
| 19 | g.46756776C>G | CA507976027 | FKRP | c.1326C>G (p.Pro442=) n.247-5057C>G n.247+8111C>G | |
| 19 | g.46756776C>T | CA9532298 | FKRP | c.1326C>T (p.Pro442=) n.247-5057C>T n.247+8111C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.46756777G>A | CA406497140 | FKRP | c.1327G>A (p.Glu443Lys) n.247-5056G>A n.247+8112G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756777G>C | CA406497141 | FKRP | c.1327G>C (p.Glu443Gln) n.247-5056G>C n.247+8112G>C | |
| 19 | g.46756777G= | CA2339067799 | FKRP | c.1327G= (p.Glu443=) n.247-5056G= n.247+8112G= | |
| 19 | g.46756777G>T | CA406497142 | FKRP | c.1327G>T (p.Glu443Ter) n.247-5056G>T n.247+8112G>T | gnomAD v4 |
| 19 | g.46756778A>C | CA406497143 | FKRP | c.1328A>C (p.Glu443Ala) n.247-5055A>C n.247+8113A>C | |
| 19 | g.46756778A>G | CA406497144 | FKRP | c.1328A>G (p.Glu443Gly) n.247-5055A>G n.247+8113A>G | ClinVar |
| 19 | g.46756778A>T | CA406497145 | FKRP | c.1328A>T (p.Glu443Val) n.247-5055A>T n.247+8113A>T | |
| 19 | g.46756779G>A | CA507976040 | FKRP | c.1329G>A (p.Glu443=) n.247-5054G>A n.247+8114G>A | gnomAD v4 |
| 19 | g.46756779G>C | CA406497146 | FKRP | c.1329G>C (p.Glu443Asp) n.247-5054G>C n.247+8114G>C | gnomAD v4 |
| 19 | g.46756779G>T | CA406497147 | FKRP | c.1329G>T (p.Glu443Asp) n.247-5054G>T n.247+8114G>T | gnomAD v4 |
| 19 | g.46756780C>A | CA406497148 | FKRP | c.1330C>A (p.His444Asn) n.247-5053C>A n.247+8115C>A | gnomAD v4 |
| 19 | g.46756780C= | CA2339067800 | FKRP | c.1330C= (p.His444=) n.247-5053C= n.247+8115C= | |
| 19 | g.46756780C>G | CA406497149 | FKRP | c.1330C>G (p.His444Asp) n.247-5053C>G n.247+8115C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756780C>T | CA406497150 | FKRP | c.1330C>T (p.His444Tyr) n.247-5053C>T n.247+8115C>T | |
| 19 | g.46756781A= | CA2339067801 | FKRP | c.1331A= (p.His444=) n.247-5052A= n.247+8116A= | |
| 19 | g.46756781A>C | CA406497151 | FKRP | c.1331A>C (p.His444Pro) n.247-5052A>C n.247+8116A>C | |
| 19 | g.46756781A>G | CA406497152 | FKRP | c.1331A>G (p.His444Arg) n.247-5052A>G n.247+8116A>G | dbSNP |
| 19 | g.46756781A>T | CA406497153 | FKRP | c.1331A>T (p.His444Leu) n.247-5052A>T n.247+8116A>T | |
| 19 | g.46756782C>A | CA406497154 | FKRP | c.1332C>A (p.His444Gln) n.247-5051C>A n.247+8117C>A | gnomAD v4 |
| 19 | g.46756782C>G | CA406497155 | FKRP | c.1332C>G (p.His444Gln) n.247-5051C>G n.247+8117C>G | |
| 19 | g.46756782C>T | CA507976049 | FKRP | c.1332C>T (p.His444=) n.247-5051C>T n.247+8117C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756783T>A | CA406497156 | FKRP | c.1333T>A (p.Phe445Ile) n.247-5050T>A n.247+8118T>A | |
| 19 | g.46756783T>C | CA406497157 | FKRP | c.1333T>C (p.Phe445Leu) n.247-5050T>C n.247+8118T>C | gnomAD v4 |
| 19 | g.46756783T>G | CA406497158 | FKRP | c.1333T>G (p.Phe445Val) n.247-5050T>G n.247+8118T>G | |
| 19 | g.46756784T>A | CA406497161 | FKRP | c.1334T>A (p.Phe445Tyr) n.247-5049T>A n.247+8119T>A | |
| 19 | g.46756784T>C | CA406497160 | FKRP | c.1334T>C (p.Phe445Ser) n.247-5049T>C n.247+8119T>C | gnomAD v4 |
| 19 | g.46756784T>G | CA406497159 | FKRP | c.1334T>G (p.Phe445Cys) n.247-5049T>G n.247+8119T>G | |
| 19 | g.46756784_46756786delinsTCC | CA2339067802 | FKRP | c.1334_1336delinsTCC (p.Phe445=) n.247-5049_247-5047delinsTCC n.247+8119_247+8121delinsTCC | |
| 19 | g.46756785C>A | CA9532299 | FKRP | c.1335C>A (p.Phe445Leu) n.247-5048C>A n.247+8120C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756785C= | CA2339067803 | FKRP | c.1335C= (p.Phe445=) n.247-5048C= n.247+8120C= | |
| 19 | g.46756785C>G | CA406497162 | FKRP | c.1335C>G (p.Phe445Leu) n.247-5048C>G n.247+8120C>G | |
| 19 | g.46756785C>T | CA507976238 | FKRP | c.1335C>T (p.Phe445=) n.247-5048C>T n.247+8120C>T | |
| 19 | g.46756785_46756786del | CA633484295 | FKRP | c.1335_1336del (p.Leu446AlafsTer17) n.247-5048_247-5047del n.247+8120_247+8121del | ClinVar dbSNP gnomAD v2 |
| 19 | g.46756786del | CA2585987506 | FKRP | c.1336del (p.Leu446CysfsTer?) n.247-5047del n.247+8121del | ClinVar gnomAD v4 |
| 19 | g.46756786C>A | CA406497163 | FKRP | c.1336C>A (p.Leu446Met) n.247-5047C>A n.247+8121C>A | |
| 19 | g.46756786C= | CA2339067804 | FKRP | c.1336C= (p.Leu446=) n.247-5047C= n.247+8121C= | |
| 19 | g.46756786C>G | CA406497164 | FKRP | c.1336C>G (p.Leu446Val) n.247-5047C>G n.247+8121C>G | |
| 19 | g.46756786C>T | CA507976240 | FKRP | c.1336C>T (p.Leu446=) n.247-5047C>T n.247+8121C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756787T>A | CA406497165 | FKRP | c.1337T>A (p.Leu446Gln) n.247-5046T>A n.247+8122T>A | |
| 19 | g.46756787T>C | CA406497166 | FKRP | c.1337T>C (p.Leu446Pro) n.247-5046T>C n.247+8122T>C | |
| 19 | g.46756787T>G | CA406497167 | FKRP | c.1337T>G (p.Leu446Arg) n.247-5046T>G n.247+8122T>G | |
| 19 | g.46756788G>A | CA309099972 | FKRP | c.1338G>A (p.Leu446=) n.247-5045G>A n.247+8123G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.46756788G>C | CA507976245 | FKRP | c.1338G>C (p.Leu446=) n.247-5045G>C n.247+8123G>C | |
| 19 | g.46756788G= | CA2339067805 | FKRP | c.1338G= (p.Leu446=) n.247-5045G= n.247+8123G= | |
| 19 | g.46756788G>T | CA507976243 | FKRP | c.1338G>T (p.Leu446=) n.247-5045G>T n.247+8123G>T | |
| 19 | g.46756789C>A | CA406497168 | FKRP | c.1339C>A (p.Gln447Lys) n.247-5044C>A n.247+8124C>A | |
| 19 | g.46756789C>G | CA406497169 | FKRP | c.1339C>G (p.Gln447Glu) n.247-5044C>G n.247+8124C>G | |
| 19 | g.46756789C>T | CA406497170 | FKRP | c.1339C>T (p.Gln447Ter) n.247-5044C>T n.247+8124C>T | ClinVar gnomAD v4 |
| 19 | g.46756790A>C | CA406497171 | FKRP | c.1340A>C (p.Gln447Pro) n.247-5043A>C n.247+8125A>C | |
| 19 | g.46756790A>G | CA406497172 | FKRP | c.1340A>G (p.Gln447Arg) n.247-5043A>G n.247+8125A>G | |
| 19 | g.46756790A>T | CA406497173 | FKRP | c.1340A>T (p.Gln447Leu) n.247-5043A>T n.247+8125A>T | |
| 19 | g.46756791G>A | CA507976249 | FKRP | c.1341G>A (p.Gln447=) n.247-5042G>A n.247+8126G>A | |
| 19 | g.46756791G>C | CA406497175 | FKRP | c.1341G>C (p.Gln447His) n.247-5042G>C n.247+8126G>C | |
| 19 | g.46756791G>T | CA406497174 | FKRP | c.1341G>T (p.Gln447His) n.247-5042G>T n.247+8126G>T | |
| 19 | g.46756792C>A | CA406497176 | FKRP | c.1342C>A (p.Pro448Thr) n.247-5041C>A n.247+8127C>A | gnomAD v4 |
| 19 | g.46756792C>G | CA406497178 | FKRP | c.1342C>G (p.Pro448Ala) n.247-5041C>G n.247+8127C>G | |
| 19 | g.46756792C>T | CA406497177 | FKRP | c.1342C>T (p.Pro448Ser) n.247-5041C>T n.247+8127C>T | |
| 19 | g.46756793C>A | CA406497179 | FKRP | c.1343C>A (p.Pro448Gln) n.247-5040C>A n.247+8128C>A | |
| 19 | g.46756793C= | CA2339067806 | FKRP | c.1343C= (p.Pro448=) n.247-5040C= n.247+8128C= | |
| 19 | g.46756793C>G | CA406497180 | FKRP | c.1343C>G (p.Pro448Arg) n.247-5040C>G n.247+8128C>G | |
| 19 | g.46756793C>T | CA116699 | FKRP | c.1343C>T (p.Pro448Leu) n.247-5040C>T n.247+8128C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |