Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47576123G>A | CA2695200213 | SYN1 | c.1158+8C>T (n.1158+8C>T) | ClinVar |
X | g.47576123G>T | CA2693585694 | SYN1 | c.1158+8C>A (n.1158+8C>A) | gnomAD v4 |
X | g.47576124C>T | CA2693585695 | SYN1 | c.1158+7G>A (n.1158+7G>A) | gnomAD v4 |
X | g.47576125T>A | CA2693585696 | SYN1 | c.1158+6A>T (n.1158+6A>T) | gnomAD v4 |
X | g.47576125T>C | CA2693585697 | SYN1 | c.1158+6A>G (n.1158+6A>G) | gnomAD v4 |
X | g.47576126C>A | CA2693585698 | SYN1 | c.1158+5G>T (n.1158+5G>T) | gnomAD v4 |
X | g.47576126C= | CA2427971860 | SYN1 | c.1158+5G= (n.1158+5G=) | |
X | g.47576126C>G | CA2427971861 | SYN1 | c.1158+5G>C (n.1158+5G>C) | dbSNP |
X | g.47576126C>T | CA2693585699 | SYN1 | c.1158+5G>A (n.1158+5G>A) | gnomAD v4 |
X | g.47576128T>C | CA2693585700 | SYN1 | c.1158+3A>G (n.1158+3A>G) | gnomAD v4 |
X | g.47576129A>C | CA412826069 | SYN1 | c.1158+2T>G (n.1158+2T>G) | |
X | g.47576129A>G | CA412826071 | SYN1 | c.1158+2T>C (n.1158+2T>C) | |
X | g.47576129A>T | CA412826072 | SYN1 | c.1158+2T>A (n.1158+2T>A) | |
X | g.47576130C>A | CA412826074 | SYN1 | c.1158+1G>T (n.1158+1G>T) | ClinVar |
X | g.47576130C>G | CA412826075 | SYN1 | c.1158+1G>C (n.1158+1G>C) | |
X | g.47576130C>T | CA412826077 | SYN1 | c.1158+1G>A (n.1158+1G>A) | |
X | g.47576131C>A | CA412826081 | SYN1 | c.1158G>T (p.Glu386Asp) | |
X | g.47576131C= | CA2427971862 | SYN1 | c.1158G= (p.Glu386=) | |
X | g.47576131C>G | CA412826082 | SYN1 | c.1158G>C (p.Glu386Asp) | |
X | g.47576131C>T | CA515992333 | SYN1 | c.1158G>A (p.Glu386=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47576132T>A | CA412826086 | SYN1 | c.1157A>T (p.Glu386Val) | gnomAD v4 |
X | g.47576132T>C | CA412826089 | SYN1 | c.1157A>G (p.Glu386Gly) | |
X | g.47576132T>G | CA412826090 | SYN1 | c.1157A>C (p.Glu386Ala) | |
X | g.47576133C>A | CA412826092 | SYN1 | c.1156G>T (p.Glu386Ter) | gnomAD v4 |
X | g.47576133C= | CA2427971863 | SYN1 | c.1156G= (p.Glu386=) | |
X | g.47576133C>G | CA412826094 | SYN1 | c.1156G>C (p.Glu386Gln) | |
X | g.47576133C>T | CA412826096 | SYN1 | c.1156G>A (p.Glu386Lys) | dbSNP gnomAD v2 |
X | g.47576134A>C | CA412826098 | SYN1 | c.1155T>G (p.Ile385Met) | |
X | g.47576134A>G | CA515992335 | SYN1 | c.1155T>C (p.Ile385=) | |
X | g.47576134A>T | CA515992336 | SYN1 | c.1155T>A (p.Ile385=) | |
X | g.47576135A= | CA2427971864 | SYN1 | c.1154T= (p.Ile385=) | |
X | g.47576135A>C | CA412826101 | SYN1 | c.1154T>G (p.Ile385Ser) | |
X | g.47576135A>G | CA412826103 | SYN1 | c.1154T>C (p.Ile385Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47576135A>T | CA412826105 | SYN1 | c.1154T>A (p.Ile385Asn) | |
X | g.47576136T>A | CA412826108 | SYN1 | c.1153A>T (p.Ile385Phe) | |
X | g.47576136T>C | CA412826109 | SYN1 | c.1153A>G (p.Ile385Val) | |
X | g.47576136T>G | CA412826111 | SYN1 | c.1153A>C (p.Ile385Leu) | |
X | g.47576137G>A | CA515992342 | SYN1 | c.1152C>T (p.Ile384=) | |
X | g.47576137G>C | CA412826114 | SYN1 | c.1152C>G (p.Ile384Met) | |
X | g.47576137G>T | CA515992345 | SYN1 | c.1152C>A (p.Ile384=) | |
X | g.47576138A>C | CA412826118 | SYN1 | c.1151T>G (p.Ile384Ser) | |
X | g.47576138A>G | CA412826116 | SYN1 | c.1151T>C (p.Ile384Thr) | |
X | g.47576138A>T | CA412826117 | SYN1 | c.1151T>A (p.Ile384Asn) | |
X | g.47576139T>A | CA412826121 | SYN1 | c.1150A>T (p.Ile384Phe) | |
X | g.47576139T>C | CA10398406 | SYN1 | c.1150A>G (p.Ile384Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47576139T>G | CA412826124 | SYN1 | c.1150A>C (p.Ile384Leu) | |
X | g.47576139T= | CA2427971865 | SYN1 | c.1150A= (p.Ile384=) | |
X | g.47576140G>A | CA515992358 | SYN1 | c.1149C>T (p.His383=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47576140G>C | CA412826127 | SYN1 | c.1149C>G (p.His383Gln) | |
X | g.47576140G= | CA2427971866 | SYN1 | c.1149C= (p.His383=) |