Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.8355402C>T | CA2574344400 | RERE | c.3005+17G>A (n.3005+17G>A) c.4667+17G>A (n.4667+17G>A) c.3863+17G>A (n.3863+17G>A) c.1721+17G>A (n.1721+17G>A) c.4541+17G>A (n.4541+17G>A) | |
1 | g.8355403C= | CA1143714531 | RERE | c.3005+16G= (n.3005+16G=) c.4667+16G= (n.4667+16G=) c.3863+16G= (n.3863+16G=) c.1721+16G= (n.1721+16G=) c.4541+16G= (n.4541+16G=) | |
1 | g.8355403C>G | CA17686943 | RERE | c.3005+16G>C (n.3005+16G>C) c.4667+16G>C (n.4667+16G>C) c.3863+16G>C (n.3863+16G>C) c.1721+16G>C (n.1721+16G>C) c.4541+16G>C (n.4541+16G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355403C>T | CA570723 | RERE | c.3005+16G>A (n.3005+16G>A) c.4667+16G>A (n.4667+16G>A) c.3863+16G>A (n.3863+16G>A) c.1721+16G>A (n.1721+16G>A) c.4541+16G>A (n.4541+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355404A= | CA1152318823 | RERE | c.3005+15T= (n.3005+15T=) c.4667+15T= (n.4667+15T=) c.3863+15T= (n.3863+15T=) c.1721+15T= (n.1721+15T=) c.4541+15T= (n.4541+15T=) | |
1 | g.8355404A>G | CA521020159 | RERE | c.3005+15T>C (n.3005+15T>C) c.4667+15T>C (n.4667+15T>C) c.3863+15T>C (n.3863+15T>C) c.1721+15T>C (n.1721+15T>C) c.4541+15T>C (n.4541+15T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355405G>A | CA2643072831 | RERE | c.3005+14C>T (n.3005+14C>T) c.4667+14C>T (n.4667+14C>T) c.3863+14C>T (n.3863+14C>T) c.1721+14C>T (n.1721+14C>T) c.4541+14C>T (n.4541+14C>T) | gnomAD v4 |
1 | g.8355405G>T | CA2643072830 | RERE | c.3005+14C>A (n.3005+14C>A) c.4667+14C>A (n.4667+14C>A) c.3863+14C>A (n.3863+14C>A) c.1721+14C>A (n.1721+14C>A) c.4541+14C>A (n.4541+14C>A) | gnomAD v4 |
1 | g.8355406C>A | CA2643072832 | RERE | c.3005+13G>T (n.3005+13G>T) c.4667+13G>T (n.4667+13G>T) c.3863+13G>T (n.3863+13G>T) c.1721+13G>T (n.1721+13G>T) c.4541+13G>T (n.4541+13G>T) | gnomAD v4 |
1 | g.8355407A= | CA1152318824 | RERE | c.3005+12T= (n.3005+12T=) c.4667+12T= (n.4667+12T=) c.3863+12T= (n.3863+12T=) c.1721+12T= (n.1721+12T=) c.4541+12T= (n.4541+12T=) | |
1 | g.8355407A>C | CA1152318825 | RERE | c.3005+12T>G (n.3005+12T>G) c.4667+12T>G (n.4667+12T>G) c.3863+12T>G (n.3863+12T>G) c.1721+12T>G (n.1721+12T>G) c.4541+12T>G (n.4541+12T>G) | dbSNP |
1 | g.8355407A>G | CA570724 | RERE | c.3005+12T>C (n.3005+12T>C) c.4667+12T>C (n.4667+12T>C) c.3863+12T>C (n.3863+12T>C) c.1721+12T>C (n.1721+12T>C) c.4541+12T>C (n.4541+12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355407A>T | CA2643072833 | RERE | c.3005+12T>A (n.3005+12T>A) c.4667+12T>A (n.4667+12T>A) c.3863+12T>A (n.3863+12T>A) c.1721+12T>A (n.1721+12T>A) c.4541+12T>A (n.4541+12T>A) | gnomAD v4 |
1 | g.8355408C= | CA1152318826 | RERE | c.3005+11G= (n.3005+11G=) c.4667+11G= (n.4667+11G=) c.3863+11G= (n.3863+11G=) c.1721+11G= (n.1721+11G=) c.4541+11G= (n.4541+11G=) | |
1 | g.8355408C>G | CA2742376459 | RERE | c.3005+11G>C (n.3005+11G>C) c.4667+11G>C (n.4667+11G>C) c.3863+11G>C (n.3863+11G>C) c.1721+11G>C (n.1721+11G>C) c.4541+11G>C (n.4541+11G>C) | |
1 | g.8355408C>T | CA739597657 | RERE | c.3005+11G>A (n.3005+11G>A) c.4667+11G>A (n.4667+11G>A) c.3863+11G>A (n.3863+11G>A) c.1721+11G>A (n.1721+11G>A) c.4541+11G>A (n.4541+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355411dup | CA998362920 | RERE | c.3005+11dup (n.3005+11dup) c.4667+11dup (n.4667+11dup) c.3863+11dup (n.3863+11dup) c.1721+11dup (n.1721+11dup) c.4541+11dup (n.4541+11dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355411del | CA2643072834 | RERE | c.3005+11del (n.3005+11del) c.4667+11del (n.4667+11del) c.3863+11del (n.3863+11del) c.1721+11del (n.1721+11del) c.4541+11del (n.4541+11del) | gnomAD v4 |
1 | g.8355409C>A | CA2574344401 | RERE | c.3005+10G>T (n.3005+10G>T) c.4667+10G>T (n.4667+10G>T) c.3863+10G>T (n.3863+10G>T) c.1721+10G>T (n.1721+10G>T) c.4541+10G>T (n.4541+10G>T) | |
1 | g.8355409C= | CA1152318827 | RERE | c.3005+10G= (n.3005+10G=) c.4667+10G= (n.4667+10G=) c.3863+10G= (n.3863+10G=) c.1721+10G= (n.1721+10G=) c.4541+10G= (n.4541+10G=) | |
1 | g.8355409C>G | CA1152318828 | RERE | c.3005+10G>C (n.3005+10G>C) c.4667+10G>C (n.4667+10G>C) c.3863+10G>C (n.3863+10G>C) c.1721+10G>C (n.1721+10G>C) c.4541+10G>C (n.4541+10G>C) | dbSNP |
1 | g.8355409C>T | CA2643072835 | RERE | c.3005+10G>A (n.3005+10G>A) c.4667+10G>A (n.4667+10G>A) c.3863+10G>A (n.3863+10G>A) c.1721+10G>A (n.1721+10G>A) c.4541+10G>A (n.4541+10G>A) | gnomAD v4 |
1 | g.8355411C= | CA1152318829 | RERE | c.3005+8G= (n.3005+8G=) c.4667+8G= (n.4667+8G=) c.3863+8G= (n.3863+8G=) c.1721+8G= (n.1721+8G=) c.4541+8G= (n.4541+8G=) | |
1 | g.8355411C>T | CA521020160 | RERE | c.3005+8G>A (n.3005+8G>A) c.4667+8G>A (n.4667+8G>A) c.3863+8G>A (n.3863+8G>A) c.1721+8G>A (n.1721+8G>A) c.4541+8G>A (n.4541+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355412A>C | CA2574344402 | RERE | c.3005+7T>G (n.3005+7T>G) c.4667+7T>G (n.4667+7T>G) c.3863+7T>G (n.3863+7T>G) c.1721+7T>G (n.1721+7T>G) c.4541+7T>G (n.4541+7T>G) | |
1 | g.8355412A>G | CA2695465920 | RERE | c.3005+7T>C (n.3005+7T>C) c.4667+7T>C (n.4667+7T>C) c.3863+7T>C (n.3863+7T>C) c.1721+7T>C (n.1721+7T>C) c.4541+7T>C (n.4541+7T>C) | dbSNP |
1 | g.8355413C>A | CA521020161 | RERE | c.3005+6G>T (n.3005+6G>T) c.4667+6G>T (n.4667+6G>T) c.3863+6G>T (n.3863+6G>T) c.1721+6G>T (n.1721+6G>T) c.4541+6G>T (n.4541+6G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355413C= | CA1152318830 | RERE | c.3005+6G= (n.3005+6G=) c.4667+6G= (n.4667+6G=) c.3863+6G= (n.3863+6G=) c.1721+6G= (n.1721+6G=) c.4541+6G= (n.4541+6G=) | |
1 | g.8355413C>G | CA739597664 | RERE | c.3005+6G>C (n.3005+6G>C) c.4667+6G>C (n.4667+6G>C) c.3863+6G>C (n.3863+6G>C) c.1721+6G>C (n.1721+6G>C) c.4541+6G>C (n.4541+6G>C) | dbSNP gnomAD v4 |
1 | g.8355413C>T | CA1152318831 | RERE | c.3005+6G>A (n.3005+6G>A) c.4667+6G>A (n.4667+6G>A) c.3863+6G>A (n.3863+6G>A) c.1721+6G>A (n.1721+6G>A) c.4541+6G>A (n.4541+6G>A) | dbSNP |
1 | g.8355415_8355416del | CA2695465958 | RERE | c.3005+4_3005+5del (n.3005+4_3005+5del) c.4667+4_4667+5del (n.4667+4_4667+5del) c.3863+4_3863+5del (n.3863+4_3863+5del) c.1721+4_1721+5del (n.1721+4_1721+5del) c.4541+4_4541+5del (n.4541+4_4541+5del) | dbSNP |
1 | g.8355415del | CA2574344403 | RERE | c.3005+4del (n.3005+4del) c.4667+4del (n.4667+4del) c.3863+4del (n.3863+4del) c.1721+4del (n.1721+4del) c.4541+4del (n.4541+4del) | |
1 | g.8355415T>C | CA2574344404 | RERE | c.3005+4A>G (n.3005+4A>G) c.4667+4A>G (n.4667+4A>G) c.3863+4A>G (n.3863+4A>G) c.1721+4A>G (n.1721+4A>G) c.4541+4A>G (n.4541+4A>G) | |
1 | g.8355417A>C | CA338167968 | RERE | c.3005+2T>G (n.3005+2T>G) c.4667+2T>G (n.4667+2T>G) c.3863+2T>G (n.3863+2T>G) c.1721+2T>G (n.1721+2T>G) c.4541+2T>G (n.4541+2T>G) | |
1 | g.8355417A>G | CA338167970 | RERE | c.3005+2T>C (n.3005+2T>C) c.4667+2T>C (n.4667+2T>C) c.3863+2T>C (n.3863+2T>C) c.1721+2T>C (n.1721+2T>C) c.4541+2T>C (n.4541+2T>C) | |
1 | g.8355417A>T | CA338167969 | RERE | c.3005+2T>A (n.3005+2T>A) c.4667+2T>A (n.4667+2T>A) c.3863+2T>A (n.3863+2T>A) c.1721+2T>A (n.1721+2T>A) c.4541+2T>A (n.4541+2T>A) | |
1 | g.8355418C>A | CA338167971 | RERE | c.3005+1G>T (n.3005+1G>T) c.4667+1G>T (n.4667+1G>T) c.3863+1G>T (n.3863+1G>T) c.1721+1G>T (n.1721+1G>T) c.4541+1G>T (n.4541+1G>T) | |
1 | g.8355418C>G | CA338167973 | RERE | c.3005+1G>C (n.3005+1G>C) c.4667+1G>C (n.4667+1G>C) c.3863+1G>C (n.3863+1G>C) c.1721+1G>C (n.1721+1G>C) c.4541+1G>C (n.4541+1G>C) | |
1 | g.8355418C>T | CA338167972 | RERE | c.3005+1G>A (n.3005+1G>A) c.4667+1G>A (n.4667+1G>A) c.3863+1G>A (n.3863+1G>A) c.1721+1G>A (n.1721+1G>A) c.4541+1G>A (n.4541+1G>A) | |
1 | g.8355419C>A | CA338167974 | RERE | c.3005G>T (p.Ser1002Ile) c.4667G>T (p.Ser1556Ile) c.3863G>T (p.Ser1288Ile) c.1721G>T (p.Ser574Ile) c.4541G>T (p.Ser1514Ile) | |
1 | g.8355419C>G | CA338167975 | RERE | c.3005G>C (p.Ser1002Thr) c.4667G>C (p.Ser1556Thr) c.3863G>C (p.Ser1288Thr) c.1721G>C (p.Ser574Thr) c.4541G>C (p.Ser1514Thr) | |
1 | g.8355419C>T | CA338167976 | RERE | c.3005G>A (p.Ser1002Asn) c.4667G>A (p.Ser1556Asn) c.3863G>A (p.Ser1288Asn) c.1721G>A (p.Ser574Asn) c.4541G>A (p.Ser1514Asn) | |
1 | g.8355420T>A | CA338167977 | RERE | c.3004A>T (p.Ser1002Cys) c.4666A>T (p.Ser1556Cys) c.3862A>T (p.Ser1288Cys) c.1720A>T (p.Ser574Cys) c.4540A>T (p.Ser1514Cys) | |
1 | g.8355420T>C | CA338167978 | RERE | c.3004A>G (p.Ser1002Gly) c.4666A>G (p.Ser1556Gly) c.3862A>G (p.Ser1288Gly) c.1720A>G (p.Ser574Gly) c.4540A>G (p.Ser1514Gly) | |
1 | g.8355420T>G | CA338167979 | RERE | c.3004A>C (p.Ser1002Arg) c.4666A>C (p.Ser1556Arg) c.3862A>C (p.Ser1288Arg) c.1720A>C (p.Ser574Arg) c.4540A>C (p.Ser1514Arg) | |
1 | g.8355421G>A | CA570725 | RERE | c.3003C>T (p.Tyr1001=) c.4665C>T (p.Tyr1555=) c.3861C>T (p.Tyr1287=) c.1719C>T (p.Tyr573=) c.4539C>T (p.Tyr1513=) | dbSNP ExAC gnomAD v2 |
1 | g.8355421G>C | CA338167980 | RERE | c.3003C>G (p.Tyr1001Ter) c.4665C>G (p.Tyr1555Ter) c.3861C>G (p.Tyr1287Ter) c.1719C>G (p.Tyr573Ter) c.4539C>G (p.Tyr1513Ter) | |
1 | g.8355421G= | CA1152318832 | RERE | c.3003C= (p.Tyr1001=) c.4665C= (p.Tyr1555=) c.3861C= (p.Tyr1287=) c.1719C= (p.Tyr573=) c.4539C= (p.Tyr1513=) | |
1 | g.8355421G>T | CA338167981 | RERE | c.3003C>A (p.Tyr1001Ter) c.4665C>A (p.Tyr1555Ter) c.3861C>A (p.Tyr1287Ter) c.1719C>A (p.Tyr573Ter) c.4539C>A (p.Tyr1513Ter) | |
1 | g.8355422T>A | CA338167982 | RERE | c.3002A>T (p.Tyr1001Phe) c.4664A>T (p.Tyr1555Phe) c.3860A>T (p.Tyr1287Phe) c.1718A>T (p.Tyr573Phe) c.4538A>T (p.Tyr1513Phe) | |
1 | g.8355422T>C | CA338167983 | RERE | c.3002A>G (p.Tyr1001Cys) c.4664A>G (p.Tyr1555Cys) c.3860A>G (p.Tyr1287Cys) c.1718A>G (p.Tyr573Cys) c.4538A>G (p.Tyr1513Cys) | |
1 | g.8355422T>G | CA338167984 | RERE | c.3002A>C (p.Tyr1001Ser) c.4664A>C (p.Tyr1555Ser) c.3860A>C (p.Tyr1287Ser) c.1718A>C (p.Tyr573Ser) c.4538A>C (p.Tyr1513Ser) | |
1 | g.8355423A>C | CA338167985 | RERE | c.3001T>G (p.Tyr1001Asp) c.4663T>G (p.Tyr1555Asp) c.3859T>G (p.Tyr1287Asp) c.1717T>G (p.Tyr573Asp) c.4537T>G (p.Tyr1513Asp) | |
1 | g.8355423A>G | CA338167987 | RERE | c.3001T>C (p.Tyr1001His) c.4663T>C (p.Tyr1555His) c.3859T>C (p.Tyr1287His) c.1717T>C (p.Tyr573His) c.4537T>C (p.Tyr1513His) | |
1 | g.8355423A>T | CA338167986 | RERE | c.3001T>A (p.Tyr1001Asn) c.4663T>A (p.Tyr1555Asn) c.3859T>A (p.Tyr1287Asn) c.1717T>A (p.Tyr573Asn) c.4537T>A (p.Tyr1513Asn) | |
1 | g.8355424A= | CA1152318833 | RERE | c.3000T= (p.Tyr1000=) c.4662T= (p.Tyr1554=) c.3858T= (p.Tyr1286=) c.1716T= (p.Tyr572=) c.4536T= (p.Tyr1512=) | |
1 | g.8355424A>C | CA338167988 | RERE | c.3000T>G (p.Tyr1000Ter) c.4662T>G (p.Tyr1554Ter) c.3858T>G (p.Tyr1286Ter) c.1716T>G (p.Tyr572Ter) c.4536T>G (p.Tyr1512Ter) | |
1 | g.8355424A>G | CA570726 | RERE | c.3000T>C (p.Tyr1000=) c.4662T>C (p.Tyr1554=) c.3858T>C (p.Tyr1286=) c.1716T>C (p.Tyr572=) c.4536T>C (p.Tyr1512=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355424A>T | CA338167989 | RERE | c.3000T>A (p.Tyr1000Ter) c.4662T>A (p.Tyr1554Ter) c.3858T>A (p.Tyr1286Ter) c.1716T>A (p.Tyr572Ter) c.4536T>A (p.Tyr1512Ter) | |
1 | g.8355425T>A | CA338167990 | RERE | c.2999A>T (p.Tyr1000Phe) c.4661A>T (p.Tyr1554Phe) c.3857A>T (p.Tyr1286Phe) c.1715A>T (p.Tyr572Phe) c.4535A>T (p.Tyr1512Phe) | |
1 | g.8355425T>C | CA338167991 | RERE | c.2999A>G (p.Tyr1000Cys) c.4661A>G (p.Tyr1554Cys) c.3857A>G (p.Tyr1286Cys) c.1715A>G (p.Tyr572Cys) c.4535A>G (p.Tyr1512Cys) | |
1 | g.8355425T>G | CA338167992 | RERE | c.2999A>C (p.Tyr1000Ser) c.4661A>C (p.Tyr1554Ser) c.3857A>C (p.Tyr1286Ser) c.1715A>C (p.Tyr572Ser) c.4535A>C (p.Tyr1512Ser) | |
1 | g.8355426A= | CA1152318834 | RERE | c.2998T= (p.Tyr1000=) c.4660T= (p.Tyr1554=) c.3856T= (p.Tyr1286=) c.1714T= (p.Tyr572=) c.4534T= (p.Tyr1512=) | |
1 | g.8355426A>C | CA338167993 | RERE | c.2998T>G (p.Tyr1000Asp) c.4660T>G (p.Tyr1554Asp) c.3856T>G (p.Tyr1286Asp) c.1714T>G (p.Tyr572Asp) c.4534T>G (p.Tyr1512Asp) | |
1 | g.8355426A>G | CA338167994 | RERE | c.2998T>C (p.Tyr1000His) c.4660T>C (p.Tyr1554His) c.3856T>C (p.Tyr1286His) c.1714T>C (p.Tyr572His) c.4534T>C (p.Tyr1512His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355426A>T | CA338167995 | RERE | c.2998T>A (p.Tyr1000Asn) c.4660T>A (p.Tyr1554Asn) c.3856T>A (p.Tyr1286Asn) c.1714T>A (p.Tyr572Asn) c.4534T>A (p.Tyr1512Asn) | |
1 | g.8355427A>C | CA338167997 | RERE | c.2997T>G (p.Asp999Glu) c.4659T>G (p.Asp1553Glu) c.3855T>G (p.Asp1285Glu) c.1713T>G (p.Asp571Glu) c.4533T>G (p.Asp1511Glu) | |
1 | g.8355427A>G | CA415841626 | RERE | c.2997T>C (p.Asp999=) c.4659T>C (p.Asp1553=) c.3855T>C (p.Asp1285=) c.1713T>C (p.Asp571=) c.4533T>C (p.Asp1511=) | |
1 | g.8355427A>T | CA338167996 | RERE | c.2997T>A (p.Asp999Glu) c.4659T>A (p.Asp1553Glu) c.3855T>A (p.Asp1285Glu) c.1713T>A (p.Asp571Glu) c.4533T>A (p.Asp1511Glu) | |
1 | g.8355428T>A | CA338167998 | RERE | c.2996A>T (p.Asp999Val) c.4658A>T (p.Asp1553Val) c.3854A>T (p.Asp1285Val) c.1712A>T (p.Asp571Val) c.4532A>T (p.Asp1511Val) | |
1 | g.8355428T>C | CA338167999 | RERE | c.2996A>G (p.Asp999Gly) c.4658A>G (p.Asp1553Gly) c.3854A>G (p.Asp1285Gly) c.1712A>G (p.Asp571Gly) c.4532A>G (p.Asp1511Gly) | |
1 | g.8355428T>G | CA338168000 | RERE | c.2996A>C (p.Asp999Ala) c.4658A>C (p.Asp1553Ala) c.3854A>C (p.Asp1285Ala) c.1712A>C (p.Asp571Ala) c.4532A>C (p.Asp1511Ala) | |
1 | g.8355429C>A | CA338168001 | RERE | c.2995G>T (p.Asp999Tyr) c.4657G>T (p.Asp1553Tyr) c.3853G>T (p.Asp1285Tyr) c.1711G>T (p.Asp571Tyr) c.4531G>T (p.Asp1511Tyr) | |
1 | g.8355429C= | CA1152318835 | RERE | c.2995G= (p.Asp999=) c.4657G= (p.Asp1553=) c.3853G= (p.Asp1285=) c.1711G= (p.Asp571=) c.4531G= (p.Asp1511=) | |
1 | g.8355429C>G | CA338168002 | RERE | c.2995G>C (p.Asp999His) c.4657G>C (p.Asp1553His) c.3853G>C (p.Asp1285His) c.1711G>C (p.Asp571His) c.4531G>C (p.Asp1511His) | |
1 | g.8355429C>T | CA338168003 | RERE | c.2995G>A (p.Asp999Asn) c.4657G>A (p.Asp1553Asn) c.3853G>A (p.Asp1285Asn) c.1711G>A (p.Asp571Asn) c.4531G>A (p.Asp1511Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355430T>A | CA338168004 | RERE | c.2994A>T (p.Glu998Asp) c.4656A>T (p.Glu1552Asp) c.3852A>T (p.Glu1284Asp) c.1710A>T (p.Glu570Asp) c.4530A>T (p.Glu1510Asp) | |
1 | g.8355430T>C | CA415841635 | RERE | c.2994A>G (p.Glu998=) c.4656A>G (p.Glu1552=) c.3852A>G (p.Glu1284=) c.1710A>G (p.Glu570=) c.4530A>G (p.Glu1510=) | dbSNP gnomAD v4 |
1 | g.8355430T>G | CA338168005 | RERE | c.2994A>C (p.Glu998Asp) c.4656A>C (p.Glu1552Asp) c.3852A>C (p.Glu1284Asp) c.1710A>C (p.Glu570Asp) c.4530A>C (p.Glu1510Asp) | |
1 | g.8355430T= | CA1152318836 | RERE | c.2994A= (p.Glu998=) c.4656A= (p.Glu1552=) c.3852A= (p.Glu1284=) c.1710A= (p.Glu570=) c.4530A= (p.Glu1510=) | |
1 | g.8355431T>A | CA338168006 | RERE | c.2993A>T (p.Glu998Val) c.4655A>T (p.Glu1552Val) c.3851A>T (p.Glu1284Val) c.1709A>T (p.Glu570Val) c.4529A>T (p.Glu1510Val) | |
1 | g.8355431T>C | CA338168007 | RERE | c.2993A>G (p.Glu998Gly) c.4655A>G (p.Glu1552Gly) c.3851A>G (p.Glu1284Gly) c.1709A>G (p.Glu570Gly) c.4529A>G (p.Glu1510Gly) | |
1 | g.8355431T>G | CA338168008 | RERE | c.2993A>C (p.Glu998Ala) c.4655A>C (p.Glu1552Ala) c.3851A>C (p.Glu1284Ala) c.1709A>C (p.Glu570Ala) c.4529A>C (p.Glu1510Ala) | |
1 | g.8355432C>A | CA338168011 | RERE | c.2992G>T (p.Glu998Ter) c.4654G>T (p.Glu1552Ter) c.3850G>T (p.Glu1284Ter) c.1708G>T (p.Glu570Ter) c.4528G>T (p.Glu1510Ter) | |
1 | g.8355432C>G | CA338168010 | RERE | c.2992G>C (p.Glu998Gln) c.4654G>C (p.Glu1552Gln) c.3850G>C (p.Glu1284Gln) c.1708G>C (p.Glu570Gln) c.4528G>C (p.Glu1510Gln) | |
1 | g.8355432C>T | CA338168009 | RERE | c.2992G>A (p.Glu998Lys) c.4654G>A (p.Glu1552Lys) c.3850G>A (p.Glu1284Lys) c.1708G>A (p.Glu570Lys) c.4528G>A (p.Glu1510Lys) | |
1 | g.8355433C>A | CA338168012 | RERE | c.2991G>T (p.Gln997His) c.4653G>T (p.Gln1551His) c.3849G>T (p.Gln1283His) c.1707G>T (p.Gln569His) c.4527G>T (p.Gln1509His) | |
1 | g.8355433C>G | CA338168013 | RERE | c.2991G>C (p.Gln997His) c.4653G>C (p.Gln1551His) c.3849G>C (p.Gln1283His) c.1707G>C (p.Gln569His) c.4527G>C (p.Gln1509His) | |
1 | g.8355433C>T | CA415841648 | RERE | c.2991G>A (p.Gln997=) c.4653G>A (p.Gln1551=) c.3849G>A (p.Gln1283=) c.1707G>A (p.Gln569=) c.4527G>A (p.Gln1509=) | |
1 | g.8355434T>A | CA338168014 | RERE | c.2990A>T (p.Gln997Leu) c.4652A>T (p.Gln1551Leu) c.3848A>T (p.Gln1283Leu) c.1706A>T (p.Gln569Leu) c.4526A>T (p.Gln1509Leu) | |
1 | g.8355434T>C | CA338168015 | RERE | c.2990A>G (p.Gln997Arg) c.4652A>G (p.Gln1551Arg) c.3848A>G (p.Gln1283Arg) c.1706A>G (p.Gln569Arg) c.4526A>G (p.Gln1509Arg) | |
1 | g.8355434T>G | CA338168016 | RERE | c.2990A>C (p.Gln997Pro) c.4652A>C (p.Gln1551Pro) c.3848A>C (p.Gln1283Pro) c.1706A>C (p.Gln569Pro) c.4526A>C (p.Gln1509Pro) | |
1 | g.8355435G>A | CA338168017 | RERE | c.2989C>T (p.Gln997Ter) c.4651C>T (p.Gln1551Ter) c.3847C>T (p.Gln1283Ter) c.1705C>T (p.Gln569Ter) c.4525C>T (p.Gln1509Ter) | |
1 | g.8355435G>C | CA338168018 | RERE | c.2989C>G (p.Gln997Glu) c.4651C>G (p.Gln1551Glu) c.3847C>G (p.Gln1283Glu) c.1705C>G (p.Gln569Glu) c.4525C>G (p.Gln1509Glu) | |
1 | g.8355435G>T | CA338168019 | RERE | c.2989C>A (p.Gln997Lys) c.4651C>A (p.Gln1551Lys) c.3847C>A (p.Gln1283Lys) c.1705C>A (p.Gln569Lys) c.4525C>A (p.Gln1509Lys) | gnomAD v4 |
1 | g.8355436A>C | CA338168020 | RERE | c.2988T>G (p.Ser996Arg) c.4650T>G (p.Ser1550Arg) c.3846T>G (p.Ser1282Arg) c.1704T>G (p.Ser568Arg) c.4524T>G (p.Ser1508Arg) | |
1 | g.8355436A>G | CA415841654 | RERE | c.2988T>C (p.Ser996=) c.4650T>C (p.Ser1550=) c.3846T>C (p.Ser1282=) c.1704T>C (p.Ser568=) c.4524T>C (p.Ser1508=) | |
1 | g.8355436A>T | CA338168021 | RERE | c.2988T>A (p.Ser996Arg) c.4650T>A (p.Ser1550Arg) c.3846T>A (p.Ser1282Arg) c.1704T>A (p.Ser568Arg) c.4524T>A (p.Ser1508Arg) | |
1 | g.8355437C>A | CA338168022 | RERE | c.2987G>T (p.Ser996Ile) c.4649G>T (p.Ser1550Ile) c.3845G>T (p.Ser1282Ile) c.1703G>T (p.Ser568Ile) c.4523G>T (p.Ser1508Ile) | |
1 | g.8355437C= | CA1152318837 | RERE | c.2987G= (p.Ser996=) c.4649G= (p.Ser1550=) c.3845G= (p.Ser1282=) c.1703G= (p.Ser568=) c.4523G= (p.Ser1508=) | |
1 | g.8355437C>G | CA338168023 | RERE | c.2987G>C (p.Ser996Thr) c.4649G>C (p.Ser1550Thr) c.3845G>C (p.Ser1282Thr) c.1703G>C (p.Ser568Thr) c.4523G>C (p.Ser1508Thr) | |
1 | g.8355437C>T | CA338168024 | RERE | c.2987G>A (p.Ser996Asn) c.4649G>A (p.Ser1550Asn) c.3845G>A (p.Ser1282Asn) c.1703G>A (p.Ser568Asn) c.4523G>A (p.Ser1508Asn) | dbSNP gnomAD v4 |
1 | g.8355438T>A | CA338168026 | RERE | c.2986A>T (p.Ser996Cys) c.4648A>T (p.Ser1550Cys) c.3844A>T (p.Ser1282Cys) c.1702A>T (p.Ser568Cys) c.4522A>T (p.Ser1508Cys) | |
1 | g.8355438T>C | CA338168027 | RERE | c.2986A>G (p.Ser996Gly) c.4648A>G (p.Ser1550Gly) c.3844A>G (p.Ser1282Gly) c.1702A>G (p.Ser568Gly) c.4522A>G (p.Ser1508Gly) | |
1 | g.8355438T>G | CA338168025 | RERE | c.2986A>C (p.Ser996Arg) c.4648A>C (p.Ser1550Arg) c.3844A>C (p.Ser1282Arg) c.1702A>C (p.Ser568Arg) c.4522A>C (p.Ser1508Arg) | dbSNP |
1 | g.8355438T= | CA1152318838 | RERE | c.2986A= (p.Ser996=) c.4648A= (p.Ser1550=) c.3844A= (p.Ser1282=) c.1702A= (p.Ser568=) c.4522A= (p.Ser1508=) | |
1 | g.8355439T>A | CA415841660 | RERE | c.2985A>T (p.Pro995=) c.4647A>T (p.Pro1549=) c.3843A>T (p.Pro1281=) c.1701A>T (p.Pro567=) c.4521A>T (p.Pro1507=) | |
1 | g.8355439T>C | CA415841661 | RERE | c.2985A>G (p.Pro995=) c.4647A>G (p.Pro1549=) c.3843A>G (p.Pro1281=) c.1701A>G (p.Pro567=) c.4521A>G (p.Pro1507=) | |
1 | g.8355439T>G | CA415841663 | RERE | c.2985A>C (p.Pro995=) c.4647A>C (p.Pro1549=) c.3843A>C (p.Pro1281=) c.1701A>C (p.Pro567=) c.4521A>C (p.Pro1507=) | |
1 | g.8355440G>A | CA570727 | RERE | c.2984C>T (p.Pro995Leu) c.4646C>T (p.Pro1549Leu) c.3842C>T (p.Pro1281Leu) c.1700C>T (p.Pro567Leu) c.4520C>T (p.Pro1507Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355440G>C | CA338168028 | RERE | c.2984C>G (p.Pro995Arg) c.4646C>G (p.Pro1549Arg) c.3842C>G (p.Pro1281Arg) c.1700C>G (p.Pro567Arg) c.4520C>G (p.Pro1507Arg) | dbSNP gnomAD v4 |
1 | g.8355440G= | CA1152318839 | RERE | c.2984C= (p.Pro995=) c.4646C= (p.Pro1549=) c.3842C= (p.Pro1281=) c.1700C= (p.Pro567=) c.4520C= (p.Pro1507=) | |
1 | g.8355440G>T | CA338168029 | RERE | c.2984C>A (p.Pro995Gln) c.4646C>A (p.Pro1549Gln) c.3842C>A (p.Pro1281Gln) c.1700C>A (p.Pro567Gln) c.4520C>A (p.Pro1507Gln) | gnomAD v4 |
1 | g.8355441G>A | CA338168030 | RERE | c.2983C>T (p.Pro995Ser) c.4645C>T (p.Pro1549Ser) c.3841C>T (p.Pro1281Ser) c.1699C>T (p.Pro567Ser) c.4519C>T (p.Pro1507Ser) | |
1 | g.8355441G>C | CA338168031 | RERE | c.2983C>G (p.Pro995Ala) c.4645C>G (p.Pro1549Ala) c.3841C>G (p.Pro1281Ala) c.1699C>G (p.Pro567Ala) c.4519C>G (p.Pro1507Ala) | |
1 | g.8355441G>T | CA338168032 | RERE | c.2983C>A (p.Pro995Thr) c.4645C>A (p.Pro1549Thr) c.3841C>A (p.Pro1281Thr) c.1699C>A (p.Pro567Thr) c.4519C>A (p.Pro1507Thr) | |
1 | g.8355442T>A | CA415841671 | RERE | c.2982A>T (p.Leu994=) c.4644A>T (p.Leu1548=) c.3840A>T (p.Leu1280=) c.1698A>T (p.Leu566=) c.4518A>T (p.Leu1506=) | |
1 | g.8355442T>C | CA17686986 | RERE | c.2982A>G (p.Leu994=) c.4644A>G (p.Leu1548=) c.3840A>G (p.Leu1280=) c.1698A>G (p.Leu566=) c.4518A>G (p.Leu1506=) | dbSNP |
1 | g.8355442T>G | CA415841673 | RERE | c.2982A>C (p.Leu994=) c.4644A>C (p.Leu1548=) c.3840A>C (p.Leu1280=) c.1698A>C (p.Leu566=) c.4518A>C (p.Leu1506=) | |
1 | g.8355442T= | CA1146387316 | RERE | c.2982A= (p.Leu994=) c.4644A= (p.Leu1548=) c.3840A= (p.Leu1280=) c.1698A= (p.Leu566=) c.4518A= (p.Leu1506=) | |
1 | g.8355443A>C | CA338168033 | RERE | c.2981T>G (p.Leu994Arg) c.4643T>G (p.Leu1548Arg) c.3839T>G (p.Leu1280Arg) c.1697T>G (p.Leu566Arg) c.4517T>G (p.Leu1506Arg) | |
1 | g.8355443A>G | CA338168034 | RERE | c.2981T>C (p.Leu994Pro) c.4643T>C (p.Leu1548Pro) c.3839T>C (p.Leu1280Pro) c.1697T>C (p.Leu566Pro) c.4517T>C (p.Leu1506Pro) | |
1 | g.8355443A>T | CA338168035 | RERE | c.2981T>A (p.Leu994Gln) c.4643T>A (p.Leu1548Gln) c.3839T>A (p.Leu1280Gln) c.1697T>A (p.Leu566Gln) c.4517T>A (p.Leu1506Gln) | |
1 | g.8355444G>A | CA415841681 | RERE | c.2980C>T (p.Leu994=) c.4642C>T (p.Leu1548=) c.3838C>T (p.Leu1280=) c.1696C>T (p.Leu566=) c.4516C>T (p.Leu1506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355444G>C | CA338168036 | RERE | c.2980C>G (p.Leu994Val) c.4642C>G (p.Leu1548Val) c.3838C>G (p.Leu1280Val) c.1696C>G (p.Leu566Val) c.4516C>G (p.Leu1506Val) | |
1 | g.8355444G= | CA1152318840 | RERE | c.2980C= (p.Leu994=) c.4642C= (p.Leu1548=) c.3838C= (p.Leu1280=) c.1696C= (p.Leu566=) c.4516C= (p.Leu1506=) | |
1 | g.8355444G>T | CA338168037 | RERE | c.2980C>A (p.Leu994Ile) c.4642C>A (p.Leu1548Ile) c.3838C>A (p.Leu1280Ile) c.1696C>A (p.Leu566Ile) c.4516C>A (p.Leu1506Ile) | |
1 | g.8355445G>A | CA415841684 | RERE | c.2979C>T (p.His993=) c.4641C>T (p.His1547=) c.3837C>T (p.His1279=) c.1695C>T (p.His565=) c.4515C>T (p.His1505=) | gnomAD v4 |
1 | g.8355445G>C | CA338168038 | RERE | c.2979C>G (p.His993Gln) c.4641C>G (p.His1547Gln) c.3837C>G (p.His1279Gln) c.1695C>G (p.His565Gln) c.4515C>G (p.His1505Gln) | |
1 | g.8355445G>T | CA338168039 | RERE | c.2979C>A (p.His993Gln) c.4641C>A (p.His1547Gln) c.3837C>A (p.His1279Gln) c.1695C>A (p.His565Gln) c.4515C>A (p.His1505Gln) | |
1 | g.8355446T>A | CA338168040 | RERE | c.2978A>T (p.His993Leu) c.4640A>T (p.His1547Leu) c.3836A>T (p.His1279Leu) c.1694A>T (p.His565Leu) c.4514A>T (p.His1505Leu) | |
1 | g.8355446T>C | CA338168041 | RERE | c.2978A>G (p.His993Arg) c.4640A>G (p.His1547Arg) c.3836A>G (p.His1279Arg) c.1694A>G (p.His565Arg) c.4514A>G (p.His1505Arg) | |
1 | g.8355446T>G | CA338168042 | RERE | c.2978A>C (p.His993Pro) c.4640A>C (p.His1547Pro) c.3836A>C (p.His1279Pro) c.1694A>C (p.His565Pro) c.4514A>C (p.His1505Pro) | |
1 | g.8355447G>A | CA570728 | RERE | c.2977C>T (p.His993Tyr) c.4639C>T (p.His1547Tyr) c.3835C>T (p.His1279Tyr) c.1693C>T (p.His565Tyr) c.4513C>T (p.His1505Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355447G>C | CA338168044 | RERE | c.2977C>G (p.His993Asp) c.4639C>G (p.His1547Asp) c.3835C>G (p.His1279Asp) c.1693C>G (p.His565Asp) c.4513C>G (p.His1505Asp) | |
1 | g.8355447G= | CA1148899275 | RERE | c.2977C= (p.His993=) c.4639C= (p.His1547=) c.3835C= (p.His1279=) c.1693C= (p.His565=) c.4513C= (p.His1505=) | |
1 | g.8355447G>T | CA338168043 | RERE | c.2977C>A (p.His993Asn) c.4639C>A (p.His1547Asn) c.3835C>A (p.His1279Asn) c.1693C>A (p.His565Asn) c.4513C>A (p.His1505Asn) | |
1 | g.8355448G>A | CA570729 | RERE | c.2976C>T (p.Gly992=) c.4638C>T (p.Gly1546=) c.3834C>T (p.Gly1278=) c.1692C>T (p.Gly564=) c.4512C>T (p.Gly1504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355448G>C | CA415841690 | RERE | c.2976C>G (p.Gly992=) c.4638C>G (p.Gly1546=) c.3834C>G (p.Gly1278=) c.1692C>G (p.Gly564=) c.4512C>G (p.Gly1504=) | |
1 | g.8355448G= | CA1142244715 | RERE | c.2976C= (p.Gly992=) c.4638C= (p.Gly1546=) c.3834C= (p.Gly1278=) c.1692C= (p.Gly564=) c.4512C= (p.Gly1504=) | |
1 | g.8355448G>T | CA415841692 | RERE | c.2976C>A (p.Gly992=) c.4638C>A (p.Gly1546=) c.3834C>A (p.Gly1278=) c.1692C>A (p.Gly564=) c.4512C>A (p.Gly1504=) | |
1 | g.8355449C>A | CA338168045 | RERE | c.2975G>T (p.Gly992Val) c.4637G>T (p.Gly1546Val) c.3833G>T (p.Gly1278Val) c.1691G>T (p.Gly564Val) c.4511G>T (p.Gly1504Val) | |
1 | g.8355449C>G | CA338168046 | RERE | c.2975G>C (p.Gly992Ala) c.4637G>C (p.Gly1546Ala) c.3833G>C (p.Gly1278Ala) c.1691G>C (p.Gly564Ala) c.4511G>C (p.Gly1504Ala) | |
1 | g.8355449C>T | CA338168047 | RERE | c.2975G>A (p.Gly992Asp) c.4637G>A (p.Gly1546Asp) c.3833G>A (p.Gly1278Asp) c.1691G>A (p.Gly564Asp) c.4511G>A (p.Gly1504Asp) | gnomAD v4 |
1 | g.8355450C>A | CA338168048 | RERE | c.2974G>T (p.Gly992Cys) c.4636G>T (p.Gly1546Cys) c.3832G>T (p.Gly1278Cys) c.1690G>T (p.Gly564Cys) c.4510G>T (p.Gly1504Cys) | |
1 | g.8355450C= | CA1152318841 | RERE | c.2974G= (p.Gly992=) c.4636G= (p.Gly1546=) c.3832G= (p.Gly1278=) c.1690G= (p.Gly564=) c.4510G= (p.Gly1504=) | |
1 | g.8355450C>G | CA338168049 | RERE | c.2974G>C (p.Gly992Arg) c.4636G>C (p.Gly1546Arg) c.3832G>C (p.Gly1278Arg) c.1690G>C (p.Gly564Arg) c.4510G>C (p.Gly1504Arg) | |
1 | g.8355450C>T | CA338168050 | RERE | c.2974G>A (p.Gly992Ser) c.4636G>A (p.Gly1546Ser) c.3832G>A (p.Gly1278Ser) c.1690G>A (p.Gly564Ser) c.4510G>A (p.Gly1504Ser) | dbSNP |
1 | g.8355451A= | CA1152318842 | RERE | c.2973T= (p.Gly991=) c.4635T= (p.Gly1545=) c.3831T= (p.Gly1277=) c.1689T= (p.Gly563=) c.4509T= (p.Gly1503=) | |
1 | g.8355451A>C | CA415841705 | RERE | c.2973T>G (p.Gly991=) c.4635T>G (p.Gly1545=) c.3831T>G (p.Gly1277=) c.1689T>G (p.Gly563=) c.4509T>G (p.Gly1503=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355451A>G | CA415841708 | RERE | c.2973T>C (p.Gly991=) c.4635T>C (p.Gly1545=) c.3831T>C (p.Gly1277=) c.1689T>C (p.Gly563=) c.4509T>C (p.Gly1503=) | |
1 | g.8355451A>T | CA415841710 | RERE | c.2973T>A (p.Gly991=) c.4635T>A (p.Gly1545=) c.3831T>A (p.Gly1277=) c.1689T>A (p.Gly563=) c.4509T>A (p.Gly1503=) | |
1 | g.8355452C>A | CA338168051 | RERE | c.2972G>T (p.Gly991Val) c.4634G>T (p.Gly1545Val) c.3830G>T (p.Gly1277Val) c.1688G>T (p.Gly563Val) c.4508G>T (p.Gly1503Val) | gnomAD v4 |
1 | g.8355452C>G | CA338168052 | RERE | c.2972G>C (p.Gly991Ala) c.4634G>C (p.Gly1545Ala) c.3830G>C (p.Gly1277Ala) c.1688G>C (p.Gly563Ala) c.4508G>C (p.Gly1503Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355452C>T | CA338168053 | RERE | c.2972G>A (p.Gly991Asp) c.4634G>A (p.Gly1545Asp) c.3830G>A (p.Gly1277Asp) c.1688G>A (p.Gly563Asp) c.4508G>A (p.Gly1503Asp) | |
1 | g.8355453C>A | CA338168056 | RERE | c.2971G>T (p.Gly991Cys) c.4633G>T (p.Gly1545Cys) c.3829G>T (p.Gly1277Cys) c.1687G>T (p.Gly563Cys) c.4507G>T (p.Gly1503Cys) | |
1 | g.8355453C= | CA1152318843 | RERE | c.2971G= (p.Gly991=) c.4633G= (p.Gly1545=) c.3829G= (p.Gly1277=) c.1687G= (p.Gly563=) c.4507G= (p.Gly1503=) | |
1 | g.8355453C>G | CA338168055 | RERE | c.2971G>C (p.Gly991Arg) c.4633G>C (p.Gly1545Arg) c.3829G>C (p.Gly1277Arg) c.1687G>C (p.Gly563Arg) c.4507G>C (p.Gly1503Arg) | |
1 | g.8355453C>T | CA338168054 | RERE | c.2971G>A (p.Gly991Ser) c.4633G>A (p.Gly1545Ser) c.3829G>A (p.Gly1277Ser) c.1687G>A (p.Gly563Ser) c.4507G>A (p.Gly1503Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355454A>C | CA338168057 | RERE | c.2970T>G (p.His990Gln) c.4632T>G (p.His1544Gln) c.3828T>G (p.His1276Gln) c.1686T>G (p.His562Gln) c.4506T>G (p.His1502Gln) | |
1 | g.8355454A>G | CA415841722 | RERE | c.2970T>C (p.His990=) c.4632T>C (p.His1544=) c.3828T>C (p.His1276=) c.1686T>C (p.His562=) c.4506T>C (p.His1502=) | |
1 | g.8355454A>T | CA338168058 | RERE | c.2970T>A (p.His990Gln) c.4632T>A (p.His1544Gln) c.3828T>A (p.His1276Gln) c.1686T>A (p.His562Gln) c.4506T>A (p.His1502Gln) | |
1 | g.8355455T>A | CA338168059 | RERE | c.2969A>T (p.His990Leu) c.4631A>T (p.His1544Leu) c.3827A>T (p.His1276Leu) c.1685A>T (p.His562Leu) c.4505A>T (p.His1502Leu) | |
1 | g.8355455T>C | CA570730 | RERE | c.2969A>G (p.His990Arg) c.4631A>G (p.His1544Arg) c.3827A>G (p.His1276Arg) c.1685A>G (p.His562Arg) c.4505A>G (p.His1502Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355455T>G | CA338168060 | RERE | c.2969A>C (p.His990Pro) c.4631A>C (p.His1544Pro) c.3827A>C (p.His1276Pro) c.1685A>C (p.His562Pro) c.4505A>C (p.His1502Pro) | |
1 | g.8355455T= | CA1152318844 | RERE | c.2969A= (p.His990=) c.4631A= (p.His1544=) c.3827A= (p.His1276=) c.1685A= (p.His562=) c.4505A= (p.His1502=) | |
1 | g.8355456G>A | CA338168063 | RERE | c.2968C>T (p.His990Tyr) c.4630C>T (p.His1544Tyr) c.3826C>T (p.His1276Tyr) c.1684C>T (p.His562Tyr) c.4504C>T (p.His1502Tyr) | |
1 | g.8355456G>C | CA338168062 | RERE | c.2968C>G (p.His990Asp) c.4630C>G (p.His1544Asp) c.3826C>G (p.His1276Asp) c.1684C>G (p.His562Asp) c.4504C>G (p.His1502Asp) | |
1 | g.8355456G>T | CA338168061 | RERE | c.2968C>A (p.His990Asn) c.4630C>A (p.His1544Asn) c.3826C>A (p.His1276Asn) c.1684C>A (p.His562Asn) c.4504C>A (p.His1502Asn) | gnomAD v4 |
1 | g.8355457C>A | CA338168064 | RERE | c.2967G>T (p.Met989Ile) c.4629G>T (p.Met1543Ile) c.3825G>T (p.Met1275Ile) c.1683G>T (p.Met561Ile) c.4503G>T (p.Met1501Ile) | COSMIC |
1 | g.8355457C= | CA1148453538 | RERE | c.2967G= (p.Met989=) c.4629G= (p.Met1543=) c.3825G= (p.Met1275=) c.1683G= (p.Met561=) c.4503G= (p.Met1501=) | |
1 | g.8355457C>G | CA338168065 | RERE | c.2967G>C (p.Met989Ile) c.4629G>C (p.Met1543Ile) c.3825G>C (p.Met1275Ile) c.1683G>C (p.Met561Ile) c.4503G>C (p.Met1501Ile) | |
1 | g.8355457C>T | CA570731 | RERE | c.2967G>A (p.Met989Ile) c.4629G>A (p.Met1543Ile) c.3825G>A (p.Met1275Ile) c.1683G>A (p.Met561Ile) c.4503G>A (p.Met1501Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355458A= | CA1152318845 | RERE | c.2966T= (p.Met989=) c.4628T= (p.Met1543=) c.3824T= (p.Met1275=) c.1682T= (p.Met561=) c.4502T= (p.Met1501=) | |
1 | g.8355458A>C | CA338168066 | RERE | c.2966T>G (p.Met989Arg) c.4628T>G (p.Met1543Arg) c.3824T>G (p.Met1275Arg) c.1682T>G (p.Met561Arg) c.4502T>G (p.Met1501Arg) | |
1 | g.8355458A>G | CA338168067 | RERE | c.2966T>C (p.Met989Thr) c.4628T>C (p.Met1543Thr) c.3824T>C (p.Met1275Thr) c.1682T>C (p.Met561Thr) c.4502T>C (p.Met1501Thr) | |
1 | g.8355458A>T | CA338168068 | RERE | c.2966T>A (p.Met989Lys) c.4628T>A (p.Met1543Lys) c.3824T>A (p.Met1275Lys) c.1682T>A (p.Met561Lys) c.4502T>A (p.Met1501Lys) | dbSNP |
1 | g.8355459T>A | CA338168069 | RERE | c.2965A>T (p.Met989Leu) c.4627A>T (p.Met1543Leu) c.3823A>T (p.Met1275Leu) c.1681A>T (p.Met561Leu) c.4501A>T (p.Met1501Leu) | |
1 | g.8355459T>C | CA570732 | RERE | c.2965A>G (p.Met989Val) c.4627A>G (p.Met1543Val) c.3823A>G (p.Met1275Val) c.1681A>G (p.Met561Val) c.4501A>G (p.Met1501Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355459T>G | CA338168070 | RERE | c.2965A>C (p.Met989Leu) c.4627A>C (p.Met1543Leu) c.3823A>C (p.Met1275Leu) c.1681A>C (p.Met561Leu) c.4501A>C (p.Met1501Leu) | |
1 | g.8355459T= | CA1143999162 | RERE | c.2965A= (p.Met989=) c.4627A= (p.Met1543=) c.3823A= (p.Met1275=) c.1681A= (p.Met561=) c.4501A= (p.Met1501=) | |
1 | g.8355460G>A | CA415841742 | RERE | c.2964C>T (p.His988=) c.4626C>T (p.His1542=) c.3822C>T (p.His1274=) c.1680C>T (p.His560=) c.4500C>T (p.His1500=) | dbSNP gnomAD v4 |
1 | g.8355460G>C | CA338168071 | RERE | c.2964C>G (p.His988Gln) c.4626C>G (p.His1542Gln) c.3822C>G (p.His1274Gln) c.1680C>G (p.His560Gln) c.4500C>G (p.His1500Gln) | dbSNP |
1 | g.8355460G= | CA1152318846 | RERE | c.2964C= (p.His988=) c.4626C= (p.His1542=) c.3822C= (p.His1274=) c.1680C= (p.His560=) c.4500C= (p.His1500=) | |
1 | g.8355460G>T | CA338168072 | RERE | c.2964C>A (p.His988Gln) c.4626C>A (p.His1542Gln) c.3822C>A (p.His1274Gln) c.1680C>A (p.His560Gln) c.4500C>A (p.His1500Gln) | ClinVar gnomAD v4 |
1 | g.8355461T>A | CA17687006 | RERE | c.2963A>T (p.His988Leu) c.4625A>T (p.His1542Leu) c.3821A>T (p.His1274Leu) c.1679A>T (p.His560Leu) c.4499A>T (p.His1500Leu) | dbSNP |
1 | g.8355461T>C | CA17687013 | RERE | c.2963A>G (p.His988Arg) c.4625A>G (p.His1542Arg) c.3821A>G (p.His1274Arg) c.1679A>G (p.His560Arg) c.4499A>G (p.His1500Arg) | dbSNP |
1 | g.8355461T>G | CA570733 | RERE | c.2963A>C (p.His988Pro) c.4625A>C (p.His1542Pro) c.3821A>C (p.His1274Pro) c.1679A>C (p.His560Pro) c.4499A>C (p.His1500Pro) | dbSNP ExAC gnomAD v2 |
1 | g.8355461T= | CA1141341970 | RERE | c.2963A= (p.His988=) c.4625A= (p.His1542=) c.3821A= (p.His1274=) c.1679A= (p.His560=) c.4499A= (p.His1500=) | |
1 | g.8355462G>A | CA338168073 | RERE | c.2962C>T (p.His988Tyr) c.4624C>T (p.His1542Tyr) c.3820C>T (p.His1274Tyr) c.1678C>T (p.His560Tyr) c.4498C>T (p.His1500Tyr) | ClinVar dbSNP |
1 | g.8355462G>C | CA338168074 | RERE | c.2962C>G (p.His988Asp) c.4624C>G (p.His1542Asp) c.3820C>G (p.His1274Asp) c.1678C>G (p.His560Asp) c.4498C>G (p.His1500Asp) | gnomAD v4 |
1 | g.8355462G= | CA1152318847 | RERE | c.2962C= (p.His988=) c.4624C= (p.His1542=) c.3820C= (p.His1274=) c.1678C= (p.His560=) c.4498C= (p.His1500=) | |
1 | g.8355462G>T | CA338168075 | RERE | c.2962C>A (p.His988Asn) c.4624C>A (p.His1542Asn) c.3820C>A (p.His1274Asn) c.1678C>A (p.His560Asn) c.4498C>A (p.His1500Asn) | ClinVar |
1 | g.8355463G>A | CA570735 | RERE | c.2961C>T (p.Pro987=) c.4623C>T (p.Pro1541=) c.3819C>T (p.Pro1273=) c.1677C>T (p.Pro559=) c.4497C>T (p.Pro1499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355463G>C | CA570734 | RERE | c.2961C>G (p.Pro987=) c.4623C>G (p.Pro1541=) c.3819C>G (p.Pro1273=) c.1677C>G (p.Pro559=) c.4497C>G (p.Pro1499=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355463G= | CA1148244020 | RERE | c.2961C= (p.Pro987=) c.4623C= (p.Pro1541=) c.3819C= (p.Pro1273=) c.1677C= (p.Pro559=) c.4497C= (p.Pro1499=) | |
1 | g.8355463G>T | CA415841756 | RERE | c.2961C>A (p.Pro987=) c.4623C>A (p.Pro1541=) c.3819C>A (p.Pro1273=) c.1677C>A (p.Pro559=) c.4497C>A (p.Pro1499=) | |
1 | g.8355464G>A | CA338168078 | RERE | c.2960C>T (p.Pro987Leu) c.4622C>T (p.Pro1541Leu) c.3818C>T (p.Pro1273Leu) c.1676C>T (p.Pro559Leu) c.4496C>T (p.Pro1499Leu) | |
1 | g.8355464G>C | CA338168077 | RERE | c.2960C>G (p.Pro987Arg) c.4622C>G (p.Pro1541Arg) c.3818C>G (p.Pro1273Arg) c.1676C>G (p.Pro559Arg) c.4496C>G (p.Pro1499Arg) | gnomAD v4 |
1 | g.8355464G>T | CA338168076 | RERE | c.2960C>A (p.Pro987His) c.4622C>A (p.Pro1541His) c.3818C>A (p.Pro1273His) c.1676C>A (p.Pro559His) c.4496C>A (p.Pro1499His) | |
1 | g.8355465G>A | CA338168079 | RERE | c.2959C>T (p.Pro987Ser) c.4621C>T (p.Pro1541Ser) c.3817C>T (p.Pro1273Ser) c.1675C>T (p.Pro559Ser) c.4495C>T (p.Pro1499Ser) | gnomAD v4 |
1 | g.8355465G>C | CA338168080 | RERE | c.2959C>G (p.Pro987Ala) c.4621C>G (p.Pro1541Ala) c.3817C>G (p.Pro1273Ala) c.1675C>G (p.Pro559Ala) c.4495C>G (p.Pro1499Ala) | |
1 | g.8355465G>T | CA338168081 | RERE | c.2959C>A (p.Pro987Thr) c.4621C>A (p.Pro1541Thr) c.3817C>A (p.Pro1273Thr) c.1675C>A (p.Pro559Thr) c.4495C>A (p.Pro1499Thr) | gnomAD v4 |
1 | g.8355466G>A | CA415841766 | RERE | c.2958C>T (p.His986=) c.4620C>T (p.His1540=) c.3816C>T (p.His1272=) c.1674C>T (p.His558=) c.4494C>T (p.His1498=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355466G>C | CA338168082 | RERE | c.2958C>G (p.His986Gln) c.4620C>G (p.His1540Gln) c.3816C>G (p.His1272Gln) c.1674C>G (p.His558Gln) c.4494C>G (p.His1498Gln) | ClinVar dbSNP |
1 | g.8355466G= | CA1152318848 | RERE | c.2958C= (p.His986=) c.4620C= (p.His1540=) c.3816C= (p.His1272=) c.1674C= (p.His558=) c.4494C= (p.His1498=) | |
1 | g.8355466G>T | CA338168083 | RERE | c.2958C>A (p.His986Gln) c.4620C>A (p.His1540Gln) c.3816C>A (p.His1272Gln) c.1674C>A (p.His558Gln) c.4494C>A (p.His1498Gln) | gnomAD v4 |
1 | g.8355467T>A | CA338168086 | RERE | c.2957A>T (p.His986Leu) c.4619A>T (p.His1540Leu) c.3815A>T (p.His1272Leu) c.1673A>T (p.His558Leu) c.4493A>T (p.His1498Leu) | |
1 | g.8355467T>C | CA338168085 | RERE | c.2957A>G (p.His986Arg) c.4619A>G (p.His1540Arg) c.3815A>G (p.His1272Arg) c.1673A>G (p.His558Arg) c.4493A>G (p.His1498Arg) | |
1 | g.8355467T>G | CA338168084 | RERE | c.2957A>C (p.His986Pro) c.4619A>C (p.His1540Pro) c.3815A>C (p.His1272Pro) c.1673A>C (p.His558Pro) c.4493A>C (p.His1498Pro) | dbSNP |
1 | g.8355467T= | CA1152318849 | RERE | c.2957A= (p.His986=) c.4619A= (p.His1540=) c.3815A= (p.His1272=) c.1673A= (p.His558=) c.4493A= (p.His1498=) | |
1 | g.8355468G>A | CA338168087 | RERE | c.2956C>T (p.His986Tyr) c.4618C>T (p.His1540Tyr) c.3814C>T (p.His1272Tyr) c.1672C>T (p.His558Tyr) c.4492C>T (p.His1498Tyr) | |
1 | g.8355468G>C | CA338168088 | RERE | c.2956C>G (p.His986Asp) c.4618C>G (p.His1540Asp) c.3814C>G (p.His1272Asp) c.1672C>G (p.His558Asp) c.4492C>G (p.His1498Asp) | |
1 | g.8355468G>T | CA338168089 | RERE | c.2956C>A (p.His986Asn) c.4618C>A (p.His1540Asn) c.3814C>A (p.His1272Asn) c.1672C>A (p.His558Asn) c.4492C>A (p.His1498Asn) | |
1 | g.8355469T>A | CA415841782 | RERE | c.2955A>T (p.Gly985=) c.4617A>T (p.Gly1539=) c.3813A>T (p.Gly1271=) c.1671A>T (p.Gly557=) c.4491A>T (p.Gly1497=) | |
1 | g.8355469T>C | CA415841785 | RERE | c.2955A>G (p.Gly985=) c.4617A>G (p.Gly1539=) c.3813A>G (p.Gly1271=) c.1671A>G (p.Gly557=) c.4491A>G (p.Gly1497=) | gnomAD v4 |
1 | g.8355469T>G | CA415841787 | RERE | c.2955A>C (p.Gly985=) c.4617A>C (p.Gly1539=) c.3813A>C (p.Gly1271=) c.1671A>C (p.Gly557=) c.4491A>C (p.Gly1497=) | |
1 | g.8355470C>A | CA338168090 | RERE | c.2954G>T (p.Gly985Val) c.4616G>T (p.Gly1539Val) c.3812G>T (p.Gly1271Val) c.1670G>T (p.Gly557Val) c.4490G>T (p.Gly1497Val) | |
1 | g.8355470C= | CA1152318850 | RERE | c.2954G= (p.Gly985=) c.4616G= (p.Gly1539=) c.3812G= (p.Gly1271=) c.1670G= (p.Gly557=) c.4490G= (p.Gly1497=) | |
1 | g.8355470C>G | CA338168091 | RERE | c.2954G>C (p.Gly985Ala) c.4616G>C (p.Gly1539Ala) c.3812G>C (p.Gly1271Ala) c.1670G>C (p.Gly557Ala) c.4490G>C (p.Gly1497Ala) | |
1 | g.8355470C>T | CA570736 | RERE | c.2954G>A (p.Gly985Glu) c.4616G>A (p.Gly1539Glu) c.3812G>A (p.Gly1271Glu) c.1670G>A (p.Gly557Glu) c.4490G>A (p.Gly1497Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355471C>A | CA338168094 | RERE | c.2953G>T (p.Gly985Ter) c.4615G>T (p.Gly1539Ter) c.3811G>T (p.Gly1271Ter) c.1669G>T (p.Gly557Ter) c.4489G>T (p.Gly1497Ter) | |
1 | g.8355471C>G | CA338168092 | RERE | c.2953G>C (p.Gly985Arg) c.4615G>C (p.Gly1539Arg) c.3811G>C (p.Gly1271Arg) c.1669G>C (p.Gly557Arg) c.4489G>C (p.Gly1497Arg) | |
1 | g.8355471C>T | CA338168093 | RERE | c.2953G>A (p.Gly985Arg) c.4615G>A (p.Gly1539Arg) c.3811G>A (p.Gly1271Arg) c.1669G>A (p.Gly557Arg) c.4489G>A (p.Gly1497Arg) | gnomAD v4 |
1 | g.8355472A>C | CA338168095 | RERE | c.2952T>G (p.His984Gln) c.4614T>G (p.His1538Gln) c.3810T>G (p.His1270Gln) c.1668T>G (p.His556Gln) c.4488T>G (p.His1496Gln) | |
1 | g.8355472A>G | CA415841797 | RERE | c.2952T>C (p.His984=) c.4614T>C (p.His1538=) c.3810T>C (p.His1270=) c.1668T>C (p.His556=) c.4488T>C (p.His1496=) | gnomAD v4 |
1 | g.8355472A>T | CA338168096 | RERE | c.2952T>A (p.His984Gln) c.4614T>A (p.His1538Gln) c.3810T>A (p.His1270Gln) c.1668T>A (p.His556Gln) c.4488T>A (p.His1496Gln) | |
1 | g.8355473T>A | CA338168097 | RERE | c.2951A>T (p.His984Leu) c.4613A>T (p.His1538Leu) c.3809A>T (p.His1270Leu) c.1667A>T (p.His556Leu) c.4487A>T (p.His1496Leu) | |
1 | g.8355473T>C | CA338168098 | RERE | c.2951A>G (p.His984Arg) c.4613A>G (p.His1538Arg) c.3809A>G (p.His1270Arg) c.1667A>G (p.His556Arg) c.4487A>G (p.His1496Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355473T>G | CA338168099 | RERE | c.2951A>C (p.His984Pro) c.4613A>C (p.His1538Pro) c.3809A>C (p.His1270Pro) c.1667A>C (p.His556Pro) c.4487A>C (p.His1496Pro) | |
1 | g.8355473T= | CA1152318851 | RERE | c.2951A= (p.His984=) c.4613A= (p.His1538=) c.3809A= (p.His1270=) c.1667A= (p.His556=) c.4487A= (p.His1496=) | |
1 | g.8355474G>A | CA338168100 | RERE | c.2950C>T (p.His984Tyr) c.4612C>T (p.His1538Tyr) c.3808C>T (p.His1270Tyr) c.1666C>T (p.His556Tyr) c.4486C>T (p.His1496Tyr) | |
1 | g.8355474G>C | CA338168101 | RERE | c.2950C>G (p.His984Asp) c.4612C>G (p.His1538Asp) c.3808C>G (p.His1270Asp) c.1666C>G (p.His556Asp) c.4486C>G (p.His1496Asp) | |
1 | g.8355474G>T | CA338168102 | RERE | c.2950C>A (p.His984Asn) c.4612C>A (p.His1538Asn) c.3808C>A (p.His1270Asn) c.1666C>A (p.His556Asn) c.4486C>A (p.His1496Asn) | gnomAD v4 |
1 | g.8355475C>A | CA415841814 | RERE | c.2949G>T (p.Leu983=) c.4611G>T (p.Leu1537=) c.3807G>T (p.Leu1269=) c.1665G>T (p.Leu555=) c.4485G>T (p.Leu1495=) | |
1 | g.8355475C= | CA1152318852 | RERE | c.2949G= (p.Leu983=) c.4611G= (p.Leu1537=) c.3807G= (p.Leu1269=) c.1665G= (p.Leu555=) c.4485G= (p.Leu1495=) | |
1 | g.8355475C>G | CA415841811 | RERE | c.2949G>C (p.Leu983=) c.4611G>C (p.Leu1537=) c.3807G>C (p.Leu1269=) c.1665G>C (p.Leu555=) c.4485G>C (p.Leu1495=) | |
1 | g.8355475C>T | CA415841809 | RERE | c.2949G>A (p.Leu983=) c.4611G>A (p.Leu1537=) c.3807G>A (p.Leu1269=) c.1665G>A (p.Leu555=) c.4485G>A (p.Leu1495=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355476A>C | CA338168103 | RERE | c.2948T>G (p.Leu983Arg) c.4610T>G (p.Leu1537Arg) c.3806T>G (p.Leu1269Arg) c.1664T>G (p.Leu555Arg) c.4484T>G (p.Leu1495Arg) | |
1 | g.8355476A>G | CA338168104 | RERE | c.2948T>C (p.Leu983Pro) c.4610T>C (p.Leu1537Pro) c.3806T>C (p.Leu1269Pro) c.1664T>C (p.Leu555Pro) c.4484T>C (p.Leu1495Pro) | |
1 | g.8355476A>T | CA338168105 | RERE | c.2948T>A (p.Leu983Gln) c.4610T>A (p.Leu1537Gln) c.3806T>A (p.Leu1269Gln) c.1664T>A (p.Leu555Gln) c.4484T>A (p.Leu1495Gln) | |
1 | g.8355477G>A | CA415841819 | RERE | c.2947C>T (p.Leu983=) c.4609C>T (p.Leu1537=) c.3805C>T (p.Leu1269=) c.1663C>T (p.Leu555=) c.4483C>T (p.Leu1495=) | |
1 | g.8355477G>C | CA338168106 | RERE | c.2947C>G (p.Leu983Val) c.4609C>G (p.Leu1537Val) c.3805C>G (p.Leu1269Val) c.1663C>G (p.Leu555Val) c.4483C>G (p.Leu1495Val) | |
1 | g.8355477G>T | CA338168107 | RERE | c.2947C>A (p.Leu983Met) c.4609C>A (p.Leu1537Met) c.3805C>A (p.Leu1269Met) c.1663C>A (p.Leu555Met) c.4483C>A (p.Leu1495Met) | |
1 | g.8355478C>A | CA338168108 | RERE | c.2946G>T (p.Trp982Cys) c.4608G>T (p.Trp1536Cys) c.3804G>T (p.Trp1268Cys) c.1662G>T (p.Trp554Cys) c.4482G>T (p.Trp1494Cys) | gnomAD v4 |
1 | g.8355478C>G | CA338168110 | RERE | c.2946G>C (p.Trp982Cys) c.4608G>C (p.Trp1536Cys) c.3804G>C (p.Trp1268Cys) c.1662G>C (p.Trp554Cys) c.4482G>C (p.Trp1494Cys) | |
1 | g.8355478C>T | CA338168109 | RERE | c.2946G>A (p.Trp982Ter) c.4608G>A (p.Trp1536Ter) c.3804G>A (p.Trp1268Ter) c.1662G>A (p.Trp554Ter) c.4482G>A (p.Trp1494Ter) | gnomAD v4 COSMIC |
1 | g.8355479C>A | CA338168111 | RERE | c.2945G>T (p.Trp982Leu) c.4607G>T (p.Trp1536Leu) c.3803G>T (p.Trp1268Leu) c.1661G>T (p.Trp554Leu) c.4481G>T (p.Trp1494Leu) | |
1 | g.8355479C>G | CA338168112 | RERE | c.2945G>C (p.Trp982Ser) c.4607G>C (p.Trp1536Ser) c.3803G>C (p.Trp1268Ser) c.1661G>C (p.Trp554Ser) c.4481G>C (p.Trp1494Ser) | |
1 | g.8355479C>T | CA338168113 | RERE | c.2945G>A (p.Trp982Ter) c.4607G>A (p.Trp1536Ter) c.3803G>A (p.Trp1268Ter) c.1661G>A (p.Trp554Ter) c.4481G>A (p.Trp1494Ter) | gnomAD v4 |
1 | g.8355480A>C | CA338168114 | RERE | c.2944T>G (p.Trp982Gly) c.4606T>G (p.Trp1536Gly) c.3802T>G (p.Trp1268Gly) c.1660T>G (p.Trp554Gly) c.4480T>G (p.Trp1494Gly) | |
1 | g.8355480A>G | CA338168115 | RERE | c.2944T>C (p.Trp982Arg) c.4606T>C (p.Trp1536Arg) c.3802T>C (p.Trp1268Arg) c.1660T>C (p.Trp554Arg) c.4480T>C (p.Trp1494Arg) | |
1 | g.8355480A>T | CA338168116 | RERE | c.2944T>A (p.Trp982Arg) c.4606T>A (p.Trp1536Arg) c.3802T>A (p.Trp1268Arg) c.1660T>A (p.Trp554Arg) c.4480T>A (p.Trp1494Arg) | |
1 | g.8355481C>A | CA338168117 | RERE | c.2943G>T (p.Gln981His) c.4605G>T (p.Gln1535His) c.3801G>T (p.Gln1267His) c.1659G>T (p.Gln553His) c.4479G>T (p.Gln1493His) | |
1 | g.8355481C= | CA1152318853 | RERE | c.2943G= (p.Gln981=) c.4605G= (p.Gln1535=) c.3801G= (p.Gln1267=) c.1659G= (p.Gln553=) c.4479G= (p.Gln1493=) | |
1 | g.8355481C>G | CA338168118 | RERE | c.2943G>C (p.Gln981His) c.4605G>C (p.Gln1535His) c.3801G>C (p.Gln1267His) c.1659G>C (p.Gln553His) c.4479G>C (p.Gln1493His) | |
1 | g.8355481C>T | CA415841832 | RERE | c.2943G>A (p.Gln981=) c.4605G>A (p.Gln1535=) c.3801G>A (p.Gln1267=) c.1659G>A (p.Gln553=) c.4479G>A (p.Gln1493=) | dbSNP |
1 | g.8355482T>A | CA338168119 | RERE | c.2942A>T (p.Gln981Leu) c.4604A>T (p.Gln1535Leu) c.3800A>T (p.Gln1267Leu) c.1658A>T (p.Gln553Leu) c.4478A>T (p.Gln1493Leu) | |
1 | g.8355482T>C | CA338168120 | RERE | c.2942A>G (p.Gln981Arg) c.4604A>G (p.Gln1535Arg) c.3800A>G (p.Gln1267Arg) c.1658A>G (p.Gln553Arg) c.4478A>G (p.Gln1493Arg) | |
1 | g.8355482T>G | CA338168121 | RERE | c.2942A>C (p.Gln981Pro) c.4604A>C (p.Gln1535Pro) c.3800A>C (p.Gln1267Pro) c.1658A>C (p.Gln553Pro) c.4478A>C (p.Gln1493Pro) | |
1 | g.8355483G>A | CA338168124 | RERE | c.2941C>T (p.Gln981Ter) c.4603C>T (p.Gln1535Ter) c.3799C>T (p.Gln1267Ter) c.1657C>T (p.Gln553Ter) c.4477C>T (p.Gln1493Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355483G>C | CA338168123 | RERE | c.2941C>G (p.Gln981Glu) c.4603C>G (p.Gln1535Glu) c.3799C>G (p.Gln1267Glu) c.1657C>G (p.Gln553Glu) c.4477C>G (p.Gln1493Glu) | |
1 | g.8355483G= | CA1152318854 | RERE | c.2941C= (p.Gln981=) c.4603C= (p.Gln1535=) c.3799C= (p.Gln1267=) c.1657C= (p.Gln553=) c.4477C= (p.Gln1493=) | |
1 | g.8355483G>T | CA338168122 | RERE | c.2941C>A (p.Gln981Lys) c.4603C>A (p.Gln1535Lys) c.3799C>A (p.Gln1267Lys) c.1657C>A (p.Gln553Lys) c.4477C>A (p.Gln1493Lys) | |
1 | g.8355484C>A | CA338168125 | RERE | c.2940G>T (p.Gln980His) c.4602G>T (p.Gln1534His) c.3798G>T (p.Gln1266His) c.1656G>T (p.Gln552His) c.4476G>T (p.Gln1492His) | |
1 | g.8355484C>G | CA338168126 | RERE | c.2940G>C (p.Gln980His) c.4602G>C (p.Gln1534His) c.3798G>C (p.Gln1266His) c.1656G>C (p.Gln552His) c.4476G>C (p.Gln1492His) | |
1 | g.8355484C>T | CA415841843 | RERE | c.2940G>A (p.Gln980=) c.4602G>A (p.Gln1534=) c.3798G>A (p.Gln1266=) c.1656G>A (p.Gln552=) c.4476G>A (p.Gln1492=) | gnomAD v4 |
1 | g.8355485T>A | CA338168127 | RERE | c.2939A>T (p.Gln980Leu) c.4601A>T (p.Gln1534Leu) c.3797A>T (p.Gln1266Leu) c.1655A>T (p.Gln552Leu) c.4475A>T (p.Gln1492Leu) | |
1 | g.8355485T>C | CA338168128 | RERE | c.2939A>G (p.Gln980Arg) c.4601A>G (p.Gln1534Arg) c.3797A>G (p.Gln1266Arg) c.1655A>G (p.Gln552Arg) c.4475A>G (p.Gln1492Arg) | gnomAD v4 |
1 | g.8355485T>G | CA338168129 | RERE | c.2939A>C (p.Gln980Pro) c.4601A>C (p.Gln1534Pro) c.3797A>C (p.Gln1266Pro) c.1655A>C (p.Gln552Pro) c.4475A>C (p.Gln1492Pro) | |
1 | g.8355486G>A | CA338168130 | RERE | c.2938C>T (p.Gln980Ter) c.4600C>T (p.Gln1534Ter) c.3796C>T (p.Gln1266Ter) c.1654C>T (p.Gln552Ter) c.4474C>T (p.Gln1492Ter) | |
1 | g.8355486G>C | CA338168131 | RERE | c.2938C>G (p.Gln980Glu) c.4600C>G (p.Gln1534Glu) c.3796C>G (p.Gln1266Glu) c.1654C>G (p.Gln552Glu) c.4474C>G (p.Gln1492Glu) | |
1 | g.8355486G>T | CA338168132 | RERE | c.2938C>A (p.Gln980Lys) c.4600C>A (p.Gln1534Lys) c.3796C>A (p.Gln1266Lys) c.1654C>A (p.Gln552Lys) c.4474C>A (p.Gln1492Lys) | gnomAD v4 |
1 | g.8355487C>A | CA338168133 | RERE | c.2937G>T (p.Glu979Asp) c.4599G>T (p.Glu1533Asp) c.3795G>T (p.Glu1265Asp) c.1653G>T (p.Glu551Asp) c.4473G>T (p.Glu1491Asp) | |
1 | g.8355487C>G | CA338168134 | RERE | c.2937G>C (p.Glu979Asp) c.4599G>C (p.Glu1533Asp) c.3795G>C (p.Glu1265Asp) c.1653G>C (p.Glu551Asp) c.4473G>C (p.Glu1491Asp) | |
1 | g.8355487C>T | CA415841854 | RERE | c.2937G>A (p.Glu979=) c.4599G>A (p.Glu1533=) c.3795G>A (p.Glu1265=) c.1653G>A (p.Glu551=) c.4473G>A (p.Glu1491=) | gnomAD v4 |
1 | g.8355488T>A | CA338168135 | RERE | c.2936A>T (p.Glu979Val) c.4598A>T (p.Glu1533Val) c.3794A>T (p.Glu1265Val) c.1652A>T (p.Glu551Val) c.4472A>T (p.Glu1491Val) | |
1 | g.8355488T>C | CA338168136 | RERE | c.2936A>G (p.Glu979Gly) c.4598A>G (p.Glu1533Gly) c.3794A>G (p.Glu1265Gly) c.1652A>G (p.Glu551Gly) c.4472A>G (p.Glu1491Gly) | dbSNP |
1 | g.8355488T>G | CA338168137 | RERE | c.2936A>C (p.Glu979Ala) c.4598A>C (p.Glu1533Ala) c.3794A>C (p.Glu1265Ala) c.1652A>C (p.Glu551Ala) c.4472A>C (p.Glu1491Ala) | |
1 | g.8355488T= | CA1152318855 | RERE | c.2936A= (p.Glu979=) c.4598A= (p.Glu1533=) c.3794A= (p.Glu1265=) c.1652A= (p.Glu551=) c.4472A= (p.Glu1491=) | |
1 | g.8355489C>A | CA338168139 | RERE | c.2935G>T (p.Glu979Ter) c.4597G>T (p.Glu1533Ter) c.3793G>T (p.Glu1265Ter) c.1651G>T (p.Glu551Ter) c.4471G>T (p.Glu1491Ter) | |
1 | g.8355489C>G | CA338168140 | RERE | c.2935G>C (p.Glu979Gln) c.4597G>C (p.Glu1533Gln) c.3793G>C (p.Glu1265Gln) c.1651G>C (p.Glu551Gln) c.4471G>C (p.Glu1491Gln) | |
1 | g.8355489C>T | CA338168138 | RERE | c.2935G>A (p.Glu979Lys) c.4597G>A (p.Glu1533Lys) c.3793G>A (p.Glu1265Lys) c.1651G>A (p.Glu551Lys) c.4471G>A (p.Glu1491Lys) | |
1 | g.8355490C>A | CA338168142 | RERE | c.2934G>T (p.Met978Ile) c.4596G>T (p.Met1532Ile) c.3792G>T (p.Met1264Ile) c.1650G>T (p.Met550Ile) c.4470G>T (p.Met1490Ile) | |
1 | g.8355490C>G | CA338168141 | RERE | c.2934G>C (p.Met978Ile) c.4596G>C (p.Met1532Ile) c.3792G>C (p.Met1264Ile) c.1650G>C (p.Met550Ile) c.4470G>C (p.Met1490Ile) | |
1 | g.8355490C>T | CA338168143 | RERE | c.2934G>A (p.Met978Ile) c.4596G>A (p.Met1532Ile) c.3792G>A (p.Met1264Ile) c.1650G>A (p.Met550Ile) c.4470G>A (p.Met1490Ile) | |
1 | g.8355491A= | CA1152318856 | RERE | c.2933T= (p.Met978=) c.4595T= (p.Met1532=) c.3791T= (p.Met1264=) c.1649T= (p.Met550=) c.4469T= (p.Met1490=) | |
1 | g.8355491A>C | CA338168144 | RERE | c.2933T>G (p.Met978Arg) c.4595T>G (p.Met1532Arg) c.3791T>G (p.Met1264Arg) c.1649T>G (p.Met550Arg) c.4469T>G (p.Met1490Arg) | |
1 | g.8355491A>G | CA338168146 | RERE | c.2933T>C (p.Met978Thr) c.4595T>C (p.Met1532Thr) c.3791T>C (p.Met1264Thr) c.1649T>C (p.Met550Thr) c.4469T>C (p.Met1490Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355491A>T | CA338168145 | RERE | c.2933T>A (p.Met978Lys) c.4595T>A (p.Met1532Lys) c.3791T>A (p.Met1264Lys) c.1649T>A (p.Met550Lys) c.4469T>A (p.Met1490Lys) | |
1 | g.8355492T>A | CA338168147 | RERE | c.2932A>T (p.Met978Leu) c.4594A>T (p.Met1532Leu) c.3790A>T (p.Met1264Leu) c.1648A>T (p.Met550Leu) c.4468A>T (p.Met1490Leu) | |
1 | g.8355492T>C | CA338168148 | RERE | c.2932A>G (p.Met978Val) c.4594A>G (p.Met1532Val) c.3790A>G (p.Met1264Val) c.1648A>G (p.Met550Val) c.4468A>G (p.Met1490Val) | ClinVar dbSNP |
1 | g.8355492T>G | CA338168149 | RERE | c.2932A>C (p.Met978Leu) c.4594A>C (p.Met1532Leu) c.3790A>C (p.Met1264Leu) c.1648A>C (p.Met550Leu) c.4468A>C (p.Met1490Leu) | |
1 | g.8355492T= | CA1152318857 | RERE | c.2932A= (p.Met978=) c.4594A= (p.Met1532=) c.3790A= (p.Met1264=) c.1648A= (p.Met550=) c.4468A= (p.Met1490=) | |
1 | g.8355493G>A | CA415841871 | RERE | c.2931C>T (p.Ala977=) c.4593C>T (p.Ala1531=) c.3789C>T (p.Ala1263=) c.1647C>T (p.Ala549=) c.4467C>T (p.Ala1489=) | |
1 | g.8355493G>C | CA415841872 | RERE | c.2931C>G (p.Ala977=) c.4593C>G (p.Ala1531=) c.3789C>G (p.Ala1263=) c.1647C>G (p.Ala549=) c.4467C>G (p.Ala1489=) | |
1 | g.8355493G>T | CA415841874 | RERE | c.2931C>A (p.Ala977=) c.4593C>A (p.Ala1531=) c.3789C>A (p.Ala1263=) c.1647C>A (p.Ala549=) c.4467C>A (p.Ala1489=) | |
1 | g.8355494G>A | CA338168150 | RERE | c.2930C>T (p.Ala977Val) c.4592C>T (p.Ala1531Val) c.3788C>T (p.Ala1263Val) c.1646C>T (p.Ala549Val) c.4466C>T (p.Ala1489Val) | gnomAD v4 |
1 | g.8355494G>C | CA338168151 | RERE | c.2930C>G (p.Ala977Gly) c.4592C>G (p.Ala1531Gly) c.3788C>G (p.Ala1263Gly) c.1646C>G (p.Ala549Gly) c.4466C>G (p.Ala1489Gly) | |
1 | g.8355494G>T | CA338168152 | RERE | c.2930C>A (p.Ala977Asp) c.4592C>A (p.Ala1531Asp) c.3788C>A (p.Ala1263Asp) c.1646C>A (p.Ala549Asp) c.4466C>A (p.Ala1489Asp) | |
1 | g.8355495C>A | CA570737 | RERE | c.2929G>T (p.Ala977Ser) c.4591G>T (p.Ala1531Ser) c.3787G>T (p.Ala1263Ser) c.1645G>T (p.Ala549Ser) c.4465G>T (p.Ala1489Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355495C= | CA1152318858 | RERE | c.2929G= (p.Ala977=) c.4591G= (p.Ala1531=) c.3787G= (p.Ala1263=) c.1645G= (p.Ala549=) c.4465G= (p.Ala1489=) | |
1 | g.8355495C>G | CA338168153 | RERE | c.2929G>C (p.Ala977Pro) c.4591G>C (p.Ala1531Pro) c.3787G>C (p.Ala1263Pro) c.1645G>C (p.Ala549Pro) c.4465G>C (p.Ala1489Pro) | |
1 | g.8355495C>T | CA338168154 | RERE | c.2929G>A (p.Ala977Thr) c.4591G>A (p.Ala1531Thr) c.3787G>A (p.Ala1263Thr) c.1645G>A (p.Ala549Thr) c.4465G>A (p.Ala1489Thr) | dbSNP |
1 | g.8355496C>A | CA415841884 | RERE | c.2928G>T (p.Leu976=) c.4590G>T (p.Leu1530=) c.3786G>T (p.Leu1262=) c.1644G>T (p.Leu548=) c.4464G>T (p.Leu1488=) | |
1 | g.8355496C>G | CA415841885 | RERE | c.2928G>C (p.Leu976=) c.4590G>C (p.Leu1530=) c.3786G>C (p.Leu1262=) c.1644G>C (p.Leu548=) c.4464G>C (p.Leu1488=) | |
1 | g.8355496C>T | CA415841887 | RERE | c.2928G>A (p.Leu976=) c.4590G>A (p.Leu1530=) c.3786G>A (p.Leu1262=) c.1644G>A (p.Leu548=) c.4464G>A (p.Leu1488=) | |
1 | g.8355497A>C | CA338168155 | RERE | c.2927T>G (p.Leu976Arg) c.4589T>G (p.Leu1530Arg) c.3785T>G (p.Leu1262Arg) c.1643T>G (p.Leu548Arg) c.4463T>G (p.Leu1488Arg) | |
1 | g.8355497A>G | CA338168156 | RERE | c.2927T>C (p.Leu976Pro) c.4589T>C (p.Leu1530Pro) c.3785T>C (p.Leu1262Pro) c.1643T>C (p.Leu548Pro) c.4463T>C (p.Leu1488Pro) | |
1 | g.8355497A>T | CA338168157 | RERE | c.2927T>A (p.Leu976Gln) c.4589T>A (p.Leu1530Gln) c.3785T>A (p.Leu1262Gln) c.1643T>A (p.Leu548Gln) c.4463T>A (p.Leu1488Gln) | |
1 | g.8355498G>A | CA415841894 | RERE | c.2926C>T (p.Leu976=) c.4588C>T (p.Leu1530=) c.3784C>T (p.Leu1262=) c.1642C>T (p.Leu548=) c.4462C>T (p.Leu1488=) | |
1 | g.8355498G>C | CA338168158 | RERE | c.2926C>G (p.Leu976Val) c.4588C>G (p.Leu1530Val) c.3784C>G (p.Leu1262Val) c.1642C>G (p.Leu548Val) c.4462C>G (p.Leu1488Val) | |
1 | g.8355498G>T | CA338168159 | RERE | c.2926C>A (p.Leu976Met) c.4588C>A (p.Leu1530Met) c.3784C>A (p.Leu1262Met) c.1642C>A (p.Leu548Met) c.4462C>A (p.Leu1488Met) | |
1 | g.8355499T>A | CA338168160 | RERE | c.2925A>T (p.Arg975Ser) c.4587A>T (p.Arg1529Ser) c.3783A>T (p.Arg1261Ser) c.1641A>T (p.Arg547Ser) c.4461A>T (p.Arg1487Ser) | |
1 | g.8355499T>C | CA570738 | RERE | c.2925A>G (p.Arg975=) c.4587A>G (p.Arg1529=) c.3783A>G (p.Arg1261=) c.1641A>G (p.Arg547=) c.4461A>G (p.Arg1487=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355499T>G | CA338168161 | RERE | c.2925A>C (p.Arg975Ser) c.4587A>C (p.Arg1529Ser) c.3783A>C (p.Arg1261Ser) c.1641A>C (p.Arg547Ser) c.4461A>C (p.Arg1487Ser) | |
1 | g.8355499T= | CA1152318859 | RERE | c.2925A= (p.Arg975=) c.4587A= (p.Arg1529=) c.3783A= (p.Arg1261=) c.1641A= (p.Arg547=) c.4461A= (p.Arg1487=) | |
1 | g.8355500C>A | CA338168162 | RERE | c.2924G>T (p.Arg975Ile) c.4586G>T (p.Arg1529Ile) c.3782G>T (p.Arg1261Ile) c.1640G>T (p.Arg547Ile) c.4460G>T (p.Arg1487Ile) | |
1 | g.8355500C>G | CA338168163 | RERE | c.2924G>C (p.Arg975Thr) c.4586G>C (p.Arg1529Thr) c.3782G>C (p.Arg1261Thr) c.1640G>C (p.Arg547Thr) c.4460G>C (p.Arg1487Thr) | |
1 | g.8355500C>T | CA338168164 | RERE | c.2924G>A (p.Arg975Lys) c.4586G>A (p.Arg1529Lys) c.3782G>A (p.Arg1261Lys) c.1640G>A (p.Arg547Lys) c.4460G>A (p.Arg1487Lys) | |
1 | g.8355501T>A | CA338168165 | RERE | c.2923A>T (p.Arg975Ter) c.4585A>T (p.Arg1529Ter) c.3781A>T (p.Arg1261Ter) c.1639A>T (p.Arg547Ter) c.4459A>T (p.Arg1487Ter) | |
1 | g.8355501T>C | CA338168166 | RERE | c.2923A>G (p.Arg975Gly) c.4585A>G (p.Arg1529Gly) c.3781A>G (p.Arg1261Gly) c.1639A>G (p.Arg547Gly) c.4459A>G (p.Arg1487Gly) | |
1 | g.8355501T>G | CA415841904 | RERE | c.2923A>C (p.Arg975=) c.4585A>C (p.Arg1529=) c.3781A>C (p.Arg1261=) c.1639A>C (p.Arg547=) c.4459A>C (p.Arg1487=) | |
1 | g.8355502C>A | CA338168167 | RERE | c.2922G>T (p.Gln974His) c.4584G>T (p.Gln1528His) c.3780G>T (p.Gln1260His) c.1638G>T (p.Gln546His) c.4458G>T (p.Gln1486His) | dbSNP gnomAD v4 |
1 | g.8355502C= | CA1152318860 | RERE | c.2922G= (p.Gln974=) c.4584G= (p.Gln1528=) c.3780G= (p.Gln1260=) c.1638G= (p.Gln546=) c.4458G= (p.Gln1486=) | |
1 | g.8355502C>G | CA338168168 | RERE | c.2922G>C (p.Gln974His) c.4584G>C (p.Gln1528His) c.3780G>C (p.Gln1260His) c.1638G>C (p.Gln546His) c.4458G>C (p.Gln1486His) | |
1 | g.8355502C>T | CA415841909 | RERE | c.2922G>A (p.Gln974=) c.4584G>A (p.Gln1528=) c.3780G>A (p.Gln1260=) c.1638G>A (p.Gln546=) c.4458G>A (p.Gln1486=) |