| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103125097T>C | CA6252856 | DYNC2H1 | c.1662-3T>C (n.1662-3T>C) c.1044-3T>C (n.1044-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125097T= | CA1996392100 | DYNC2H1 | c.1662-3T= (n.1662-3T=) c.1044-3T= (n.1044-3T=) | |
| 11 | g.103125098A= | CA1996392101 | DYNC2H1 | c.1662-2A= (n.1662-2A=) c.1044-2A= (n.1044-2A=) | |
| 11 | g.103125098A>C | CA382254861 | DYNC2H1 | c.1662-2A>C (n.1662-2A>C) c.1044-2A>C (n.1044-2A>C) | |
| 11 | g.103125098A>G | CA227402466 | DYNC2H1 | c.1662-2A>G (n.1662-2A>G) c.1044-2A>G (n.1044-2A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125098A>T | CA382254862 | DYNC2H1 | c.1662-2A>T (n.1662-2A>T) c.1044-2A>T (n.1044-2A>T) | gnomAD v4 |
| 11 | g.103125099G>A | CA382254863 | DYNC2H1 | c.1662-1G>A (n.1662-1G>A) c.1044-1G>A (n.1044-1G>A) | |
| 11 | g.103125099G>C | CA382254864 | DYNC2H1 | c.1662-1G>C (n.1662-1G>C) c.1044-1G>C (n.1044-1G>C) | |
| 11 | g.103125099G>T | CA382254865 | DYNC2H1 | c.1662-1G>T (n.1662-1G>T) c.1044-1G>T (n.1044-1G>T) | |
| 11 | g.103125100T>A | CA382254866 | DYNC2H1 | c.1662T>A (p.Cys554Ter) c.1044T>A (p.Cys348Ter) | |
| 11 | g.103125100T>C | CA476607958 | DYNC2H1 | c.1662T>C (p.Cys554=) c.1044T>C (p.Cys348=) | |
| 11 | g.103125100T>G | CA382254867 | DYNC2H1 | c.1662T>G (p.Cys554Trp) c.1044T>G (p.Cys348Trp) | |
| 11 | g.103125101A>C | CA382254868 | DYNC2H1 | c.1663A>C (p.Ile555Leu) c.1045A>C (p.Ile349Leu) | |
| 11 | g.103125101A>G | CA382254869 | DYNC2H1 | c.1663A>G (p.Ile555Val) c.1045A>G (p.Ile349Val) | |
| 11 | g.103125101A>T | CA382254870 | DYNC2H1 | c.1663A>T (p.Ile555Phe) c.1045A>T (p.Ile349Phe) | |
| 11 | g.103125102T>A | CA382254871 | DYNC2H1 | c.1664T>A (p.Ile555Asn) c.1046T>A (p.Ile349Asn) | |
| 11 | g.103125102T>C | CA382254872 | DYNC2H1 | c.1664T>C (p.Ile555Thr) c.1046T>C (p.Ile349Thr) | |
| 11 | g.103125102T>G | CA382254873 | DYNC2H1 | c.1664T>G (p.Ile555Ser) c.1046T>G (p.Ile349Ser) | ClinVar dbSNP |
| 11 | g.103125102T= | CA1996392102 | DYNC2H1 | c.1664T= (p.Ile555=) c.1046T= (p.Ile349=) | |
| 11 | g.103125103T>A | CA476607961 | DYNC2H1 | c.1665T>A (p.Ile555=) c.1047T>A (p.Ile349=) | |
| 11 | g.103125103T>C | CA476607962 | DYNC2H1 | c.1665T>C (p.Ile555=) c.1047T>C (p.Ile349=) | |
| 11 | g.103125103T>G | CA382254874 | DYNC2H1 | c.1665T>G (p.Ile555Met) c.1047T>G (p.Ile349Met) | gnomAD v4 |
| 11 | g.103125104G>A | CA382254877 | DYNC2H1 | c.1666G>A (p.Glu556Lys) c.1048G>A (p.Glu350Lys) | gnomAD v4 |
| 11 | g.103125104G>C | CA382254875 | DYNC2H1 | c.1666G>C (p.Glu556Gln) c.1048G>C (p.Glu350Gln) | |
| 11 | g.103125104G>T | CA382254876 | DYNC2H1 | c.1666G>T (p.Glu556Ter) c.1048G>T (p.Glu350Ter) | |
| 11 | g.103125105A>C | CA382254878 | DYNC2H1 | c.1667A>C (p.Glu556Ala) c.1049A>C (p.Glu350Ala) | |
| 11 | g.103125105A>G | CA382254879 | DYNC2H1 | c.1667A>G (p.Glu556Gly) c.1049A>G (p.Glu350Gly) | |
| 11 | g.103125105A>T | CA382254880 | DYNC2H1 | c.1667A>T (p.Glu556Val) c.1049A>T (p.Glu350Val) | |
| 11 | g.103125106G>A | CA476607965 | DYNC2H1 | c.1668G>A (p.Glu556=) c.1050G>A (p.Glu350=) | |
| 11 | g.103125106G>C | CA382254881 | DYNC2H1 | c.1668G>C (p.Glu556Asp) c.1050G>C (p.Glu350Asp) | |
| 11 | g.103125106G>T | CA382254882 | DYNC2H1 | c.1668G>T (p.Glu556Asp) c.1050G>T (p.Glu350Asp) | |
| 11 | g.103125107G>A | CA382254883 | DYNC2H1 | c.1669G>A (p.Ala557Thr) c.1051G>A (p.Ala351Thr) | |
| 11 | g.103125107G>C | CA382254885 | DYNC2H1 | c.1669G>C (p.Ala557Pro) c.1051G>C (p.Ala351Pro) | |
| 11 | g.103125107G>T | CA382254884 | DYNC2H1 | c.1669G>T (p.Ala557Ser) c.1051G>T (p.Ala351Ser) | gnomAD v4 |
| 11 | g.103125108C>A | CA382254886 | DYNC2H1 | c.1670C>A (p.Ala557Asp) c.1052C>A (p.Ala351Asp) | |
| 11 | g.103125108C= | CA1996392103 | DYNC2H1 | c.1670C= (p.Ala557=) c.1052C= (p.Ala351=) | |
| 11 | g.103125108C>G | CA382254887 | DYNC2H1 | c.1670C>G (p.Ala557Gly) c.1052C>G (p.Ala351Gly) | |
| 11 | g.103125108C>T | CA6252857 | DYNC2H1 | c.1670C>T (p.Ala557Val) c.1052C>T (p.Ala351Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125109T>A | CA476607968 | DYNC2H1 | c.1671T>A (p.Ala557=) c.1053T>A (p.Ala351=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125109T>C | CA476607969 | DYNC2H1 | c.1671T>C (p.Ala557=) c.1053T>C (p.Ala351=) | |
| 11 | g.103125109T>G | CA476607971 | DYNC2H1 | c.1671T>G (p.Ala557=) c.1053T>G (p.Ala351=) | |
| 11 | g.103125109T= | CA1996392104 | DYNC2H1 | c.1671T= (p.Ala557=) c.1053T= (p.Ala351=) | |
| 11 | g.103125110A>C | CA382254888 | DYNC2H1 | c.1672A>C (p.Ser558Arg) c.1054A>C (p.Ser352Arg) | |
| 11 | g.103125110A>G | CA382254889 | DYNC2H1 | c.1672A>G (p.Ser558Gly) c.1054A>G (p.Ser352Gly) | |
| 11 | g.103125110A>T | CA382254890 | DYNC2H1 | c.1672A>T (p.Ser558Cys) c.1054A>T (p.Ser352Cys) | |
| 11 | g.103125111G>A | CA6252858 | DYNC2H1 | c.1673G>A (p.Ser558Asn) c.1055G>A (p.Ser352Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125111G>C | CA6252859 | DYNC2H1 | c.1673G>C (p.Ser558Thr) c.1055G>C (p.Ser352Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125111G= | CA1996392105 | DYNC2H1 | c.1673G= (p.Ser558=) c.1055G= (p.Ser352=) | |
| 11 | g.103125111G>T | CA382254891 | DYNC2H1 | c.1673G>T (p.Ser558Ile) c.1055G>T (p.Ser352Ile) | |
| 11 | g.103125112T>A | CA382254892 | DYNC2H1 | c.1674T>A (p.Ser558Arg) c.1056T>A (p.Ser352Arg) |