Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
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 | 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 |