| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103125071C>A | CA2615740534 | DYNC2H1 | c.1662-29C>A (n.1662-29C>A) c.1044-29C>A (n.1044-29C>A) | gnomAD v4 |
| 11 | g.103125072T>G | CA601235014 | DYNC2H1 | c.1662-28T>G (n.1662-28T>G) c.1044-28T>G (n.1044-28T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125072T= | CA1996392086 | DYNC2H1 | c.1662-28T= (n.1662-28T=) c.1044-28T= (n.1044-28T=) | |
| 11 | g.103125076C>T | CA2615740535 | DYNC2H1 | c.1662-24C>T (n.1662-24C>T) c.1044-24C>T (n.1044-24C>T) | gnomAD v4 |
| 11 | g.103125077A= | CA1996392088 | DYNC2H1 | c.1662-23A= (n.1662-23A=) c.1044-23A= (n.1044-23A=) | |
| 11 | g.103125077A>C | CA941655062 | DYNC2H1 | c.1662-23A>C (n.1662-23A>C) c.1044-23A>C (n.1044-23A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125077A>G | CA2615740536 | DYNC2H1 | c.1662-23A>G (n.1662-23A>G) c.1044-23A>G (n.1044-23A>G) | gnomAD v4 |
| 11 | g.103125078G>A | CA601235015 | DYNC2H1 | c.1662-22G>A (n.1662-22G>A) c.1044-22G>A (n.1044-22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125078G= | CA1996392089 | DYNC2H1 | c.1662-22G= (n.1662-22G=) c.1044-22G= (n.1044-22G=) | |
| 11 | g.103125078G>T | CA6252853 | DYNC2H1 | c.1662-22G>T (n.1662-22G>T) c.1044-22G>T (n.1044-22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125079del | CA2615740537 | DYNC2H1 | c.1662-21del (n.1662-21del) c.1044-21del (n.1044-21del) | gnomAD v4 |
| 11 | g.103125079G>A | CA6252854 | DYNC2H1 | c.1662-21G>A (n.1662-21G>A) c.1044-21G>A (n.1044-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125079G= | CA1996392094 | DYNC2H1 | c.1662-21G= (n.1662-21G=) c.1044-21G= (n.1044-21G=) | |
| 11 | g.103125079G>T | CA2615740538 | DYNC2H1 | c.1662-21G>T (n.1662-21G>T) c.1044-21G>T (n.1044-21G>T) | gnomAD v4 |
| 11 | g.103125086_103125089del | CA2615740539 | DYNC2H1 | c.1662-14_1662-11del (n.1662-14_1662-11del) c.1044-14_1044-11del (n.1044-14_1044-11del) | gnomAD v4 |
| 11 | g.103125082A= | CA1996392095 | DYNC2H1 | c.1662-18A= (n.1662-18A=) c.1044-18A= (n.1044-18A=) | |
| 11 | g.103125082A>C | CA2615740541 | DYNC2H1 | c.1662-18A>C (n.1662-18A>C) c.1044-18A>C (n.1044-18A>C) | gnomAD v4 |
| 11 | g.103125082A>G | CA6252855 | DYNC2H1 | c.1662-18A>G (n.1662-18A>G) c.1044-18A>G (n.1044-18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125082A>T | CA2615740542 | DYNC2H1 | c.1662-18A>T (n.1662-18A>T) c.1044-18A>T (n.1044-18A>T) | gnomAD v4 |
| 11 | g.103125085T>A | CA2615740543 | DYNC2H1 | c.1662-15T>A (n.1662-15T>A) c.1044-15T>A (n.1044-15T>A) | gnomAD v4 |
| 11 | g.103125086A>G | CA2615740544 | DYNC2H1 | c.1662-14A>G (n.1662-14A>G) c.1044-14A>G (n.1044-14A>G) | gnomAD v4 |
| 11 | g.103125090T>C | CA2615740545 | DYNC2H1 | c.1662-10T>C (n.1662-10T>C) c.1044-10T>C (n.1044-10T>C) | gnomAD v4 |
| 11 | g.103125096A= | CA1996392096 | DYNC2H1 | c.1662-4A= (n.1662-4A=) c.1044-4A= (n.1044-4A=) | |
| 11 | g.103125096A>C | CA2602037452 | DYNC2H1 | c.1662-4A>C (n.1662-4A>C) c.1044-4A>C (n.1044-4A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125096A>G | CA670953717 | DYNC2H1 | c.1662-4A>G (n.1662-4A>G) c.1044-4A>G (n.1044-4A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125096A>T | CA601235016 | DYNC2H1 | c.1662-4A>T (n.1662-4A>T) c.1044-4A>T (n.1044-4A>T) | dbSNP gnomAD v2 |
| 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) | |
| 11 | g.103125112T>C | CA476607973 | DYNC2H1 | c.1674T>C (p.Ser558=) c.1056T>C (p.Ser352=) | |
| 11 | g.103125112T>G | CA382254893 | DYNC2H1 | c.1674T>G (p.Ser558Arg) c.1056T>G (p.Ser352Arg) | |
| 11 | g.103125113A>C | CA382254894 | DYNC2H1 | c.1675A>C (p.Ser559Arg) c.1057A>C (p.Ser353Arg) | |
| 11 | g.103125113A>G | CA382254896 | DYNC2H1 | c.1675A>G (p.Ser559Gly) c.1057A>G (p.Ser353Gly) | gnomAD v4 |
| 11 | g.103125113A>T | CA382254895 | DYNC2H1 | c.1675A>T (p.Ser559Cys) c.1057A>T (p.Ser353Cys) | |
| 11 | g.103125114G>A | CA382254897 | DYNC2H1 | c.1676G>A (p.Ser559Asn) c.1058G>A (p.Ser353Asn) | |
| 11 | g.103125114G>C | CA382254898 | DYNC2H1 | c.1676G>C (p.Ser559Thr) c.1058G>C (p.Ser353Thr) | |
| 11 | g.103125114G>T | CA382254899 | DYNC2H1 | c.1676G>T (p.Ser559Ile) c.1058G>T (p.Ser353Ile) | |
| 11 | g.103125115T>A | CA382254900 | DYNC2H1 | c.1677T>A (p.Ser559Arg) c.1059T>A (p.Ser353Arg) | |
| 11 | g.103125115T>C | CA476607977 | DYNC2H1 | c.1677T>C (p.Ser559=) c.1059T>C (p.Ser353=) | |
| 11 | g.103125115T>G | CA382254901 | DYNC2H1 | c.1677T>G (p.Ser559Arg) c.1059T>G (p.Ser353Arg) | |
| 11 | g.103125116C>A | CA476607980 | DYNC2H1 | c.1678C>A (p.Arg560=) c.1060C>A (p.Arg354=) | gnomAD v4 |
| 11 | g.103125116C= | CA1996392107 | DYNC2H1 | c.1678C= (p.Arg560=) c.1060C= (p.Arg354=) | |
| 11 | g.103125116C>G | CA382254902 | DYNC2H1 | c.1678C>G (p.Arg560Gly) c.1060C>G (p.Arg354Gly) | gnomAD v4 |
| 11 | g.103125116C>T | CA227402471 | DYNC2H1 | c.1678C>T (p.Arg560Ter) c.1060C>T (p.Arg354Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125117G>A | CA6252860 | DYNC2H1 | c.1679G>A (p.Arg560Gln) c.1061G>A (p.Arg354Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103125117G>C | CA382254903 | DYNC2H1 | c.1679G>C (p.Arg560Pro) c.1061G>C (p.Arg354Pro) | |
| 11 | g.103125117G= | CA1996392111 | DYNC2H1 | c.1679G= (p.Arg560=) c.1061G= (p.Arg354=) | |
| 11 | g.103125117G>T | CA6252861 | DYNC2H1 | c.1679G>T (p.Arg560Leu) c.1061G>T (p.Arg354Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125118A>C | CA476607983 | DYNC2H1 | c.1680A>C (p.Arg560=) c.1062A>C (p.Arg354=) | |
| 11 | g.103125118A>G | CA476607984 | DYNC2H1 | c.1680A>G (p.Arg560=) c.1062A>G (p.Arg354=) | |
| 11 | g.103125118A>T | CA476607982 | DYNC2H1 | c.1680A>T (p.Arg560=) c.1062A>T (p.Arg354=) | |
| 11 | g.103125119A= | CA1996392112 | DYNC2H1 | c.1681A= (p.Ile561=) c.1063A= (p.Ile355=) | |
| 11 | g.103125119A>C | CA382254904 | DYNC2H1 | c.1681A>C (p.Ile561Leu) c.1063A>C (p.Ile355Leu) | |
| 11 | g.103125119A>G | CA382254905 | DYNC2H1 | c.1681A>G (p.Ile561Val) c.1063A>G (p.Ile355Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125119A>T | CA382254906 | DYNC2H1 | c.1681A>T (p.Ile561Phe) c.1063A>T (p.Ile355Phe) | |
| 11 | g.103125120T>A | CA382254909 | DYNC2H1 | c.1682T>A (p.Ile561Asn) c.1064T>A (p.Ile355Asn) | |
| 11 | g.103125120T>C | CA382254908 | DYNC2H1 | c.1682T>C (p.Ile561Thr) c.1064T>C (p.Ile355Thr) | gnomAD v4 |
| 11 | g.103125120T>G | CA382254907 | DYNC2H1 | c.1682T>G (p.Ile561Ser) c.1064T>G (p.Ile355Ser) | |
| 11 | g.103125121T>A | CA476607986 | DYNC2H1 | c.1683T>A (p.Ile561=) c.1065T>A (p.Ile355=) | |
| 11 | g.103125121T>C | CA476607985 | DYNC2H1 | c.1683T>C (p.Ile561=) c.1065T>C (p.Ile355=) | |
| 11 | g.103125121T>G | CA382254910 | DYNC2H1 | c.1683T>G (p.Ile561Met) c.1065T>G (p.Ile355Met) | |
| 11 | g.103125122A>C | CA382254911 | DYNC2H1 | c.1684A>C (p.Met562Leu) c.1066A>C (p.Met356Leu) | |
| 11 | g.103125122A>G | CA382254912 | DYNC2H1 | c.1684A>G (p.Met562Val) c.1066A>G (p.Met356Val) | |
| 11 | g.103125122A>T | CA382254913 | DYNC2H1 | c.1684A>T (p.Met562Leu) c.1066A>T (p.Met356Leu) | |
| 11 | g.103125123T>A | CA382254914 | DYNC2H1 | c.1685T>A (p.Met562Lys) c.1067T>A (p.Met356Lys) | |
| 11 | g.103125123T>C | CA382254915 | DYNC2H1 | c.1685T>C (p.Met562Thr) c.1067T>C (p.Met356Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125123T>G | CA382254916 | DYNC2H1 | c.1685T>G (p.Met562Arg) c.1067T>G (p.Met356Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125123T= | CA1996392113 | DYNC2H1 | c.1685T= (p.Met562=) c.1067T= (p.Met356=) | |
| 11 | g.103125124G>A | CA382254917 | DYNC2H1 | c.1686G>A (p.Met562Ile) c.1068G>A (p.Met356Ile) | |
| 11 | g.103125124G>C | CA227402476 | DYNC2H1 | c.1686G>C (p.Met562Ile) c.1068G>C (p.Met356Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125124G= | CA1996392114 | DYNC2H1 | c.1686G= (p.Met562=) c.1068G= (p.Met356=) | |
| 11 | g.103125124G>T | CA382254918 | DYNC2H1 | c.1686G>T (p.Met562Ile) c.1068G>T (p.Met356Ile) | |
| 11 | g.103125125G>A | CA382254919 | DYNC2H1 | c.1687G>A (p.Glu563Lys) c.1069G>A (p.Glu357Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125125G>C | CA382254920 | DYNC2H1 | c.1687G>C (p.Glu563Gln) c.1069G>C (p.Glu357Gln) | |
| 11 | g.103125125G= | CA1996392115 | DYNC2H1 | c.1687G= (p.Glu563=) c.1069G= (p.Glu357=) | |
| 11 | g.103125125G>T | CA382254921 | DYNC2H1 | c.1687G>T (p.Glu563Ter) c.1069G>T (p.Glu357Ter) | |
| 11 | g.103125126A>C | CA382254923 | DYNC2H1 | c.1688A>C (p.Glu563Ala) c.1070A>C (p.Glu357Ala) | |
| 11 | g.103125126A>G | CA382254924 | DYNC2H1 | c.1688A>G (p.Glu563Gly) c.1070A>G (p.Glu357Gly) | |
| 11 | g.103125126A>T | CA382254922 | DYNC2H1 | c.1688A>T (p.Glu563Val) c.1070A>T (p.Glu357Val) | |
| 11 | g.103125127A>C | CA382254925 | DYNC2H1 | c.1689A>C (p.Glu563Asp) c.1071A>C (p.Glu357Asp) | |
| 11 | g.103125127A>G | CA476607995 | DYNC2H1 | c.1689A>G (p.Glu563=) c.1071A>G (p.Glu357=) | |
| 11 | g.103125127A>T | CA382254926 | DYNC2H1 | c.1689A>T (p.Glu563Asp) c.1071A>T (p.Glu357Asp) | |
| 11 | g.103125128T>A | CA382254927 | DYNC2H1 | c.1690T>A (p.Leu564Met) c.1072T>A (p.Leu358Met) | |
| 11 | g.103125128T>C | CA476607997 | DYNC2H1 | c.1690T>C (p.Leu564=) c.1072T>C (p.Leu358=) | |
| 11 | g.103125128T>G | CA382254928 | DYNC2H1 | c.1690T>G (p.Leu564Val) c.1072T>G (p.Leu358Val) | |
| 11 | g.103125129T>A | CA382254929 | DYNC2H1 | c.1691T>A (p.Leu564Ter) c.1073T>A (p.Leu358Ter) | |
| 11 | g.103125129T>C | CA382254930 | DYNC2H1 | c.1691T>C (p.Leu564Ser) c.1073T>C (p.Leu358Ser) | |
| 11 | g.103125129T>G | CA382254931 | DYNC2H1 | c.1691T>G (p.Leu564Trp) c.1073T>G (p.Leu358Trp) | |
| 11 | g.103125130G>A | CA6252862 | DYNC2H1 | c.1692G>A (p.Leu564=) c.1074G>A (p.Leu358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125130G>C | CA382254932 | DYNC2H1 | c.1692G>C (p.Leu564Phe) c.1074G>C (p.Leu358Phe) | |
| 11 | g.103125130G= | CA1996392116 | DYNC2H1 | c.1692G= (p.Leu564=) c.1074G= (p.Leu358=) | |
| 11 | g.103125130G>T | CA382254933 | DYNC2H1 | c.1692G>T (p.Leu564Phe) c.1074G>T (p.Leu358Phe) | |
| 11 | g.103125131G>A | CA382254934 | DYNC2H1 | c.1693G>A (p.Asp565Asn) c.1075G>A (p.Asp359Asn) | |
| 11 | g.103125131G>C | CA382254935 | DYNC2H1 | c.1693G>C (p.Asp565His) c.1075G>C (p.Asp359His) | |
| 11 | g.103125131G>T | CA382254936 | DYNC2H1 | c.1693G>T (p.Asp565Tyr) c.1075G>T (p.Asp359Tyr) | |
| 11 | g.103125132A>C | CA382254937 | DYNC2H1 | c.1694A>C (p.Asp565Ala) c.1076A>C (p.Asp359Ala) | |
| 11 | g.103125132A>G | CA382254939 | DYNC2H1 | c.1694A>G (p.Asp565Gly) c.1076A>G (p.Asp359Gly) | gnomAD v4 |
| 11 | g.103125132A>T | CA382254938 | DYNC2H1 | c.1694A>T (p.Asp565Val) c.1076A>T (p.Asp359Val) | |
| 11 | g.103125133T>A | CA382254940 | DYNC2H1 | c.1695T>A (p.Asp565Glu) c.1077T>A (p.Asp359Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125133T>C | CA476608001 | DYNC2H1 | c.1695T>C (p.Asp565=) c.1077T>C (p.Asp359=) | |
| 11 | g.103125133T>G | CA382254941 | DYNC2H1 | c.1695T>G (p.Asp565Glu) c.1077T>G (p.Asp359Glu) | |
| 11 | g.103125133T= | CA1996392117 | DYNC2H1 | c.1695T= (p.Asp565=) c.1077T= (p.Asp359=) | |
| 11 | g.103125134T>A | CA382254942 | DYNC2H1 | c.1696T>A (p.Ser566Thr) c.1078T>A (p.Ser360Thr) | |
| 11 | g.103125134T>C | CA382254943 | DYNC2H1 | c.1696T>C (p.Ser566Pro) c.1078T>C (p.Ser360Pro) | |
| 11 | g.103125134T>G | CA382254944 | DYNC2H1 | c.1696T>G (p.Ser566Ala) c.1078T>G (p.Ser360Ala) | |
| 11 | g.103125135C>A | CA382254945 | DYNC2H1 | c.1697C>A (p.Ser566Tyr) c.1079C>A (p.Ser360Tyr) | |
| 11 | g.103125135C>G | CA382254946 | DYNC2H1 | c.1697C>G (p.Ser566Cys) c.1079C>G (p.Ser360Cys) | |
| 11 | g.103125135C>T | CA382254947 | DYNC2H1 | c.1697C>T (p.Ser566Phe) c.1079C>T (p.Ser360Phe) | COSMIC |
| 11 | g.103125136T>A | CA476608003 | DYNC2H1 | c.1698T>A (p.Ser566=) c.1080T>A (p.Ser360=) | |
| 11 | g.103125136T>C | CA476608005 | DYNC2H1 | c.1698T>C (p.Ser566=) c.1080T>C (p.Ser360=) | |
| 11 | g.103125136T>G | CA476608007 | DYNC2H1 | c.1698T>G (p.Ser566=) c.1080T>G (p.Ser360=) | |
| 11 | g.103125137A>C | CA382254948 | DYNC2H1 | c.1699A>C (p.Asn567His) c.1081A>C (p.Asn361His) | |
| 11 | g.103125137A>G | CA382254949 | DYNC2H1 | c.1699A>G (p.Asn567Asp) c.1081A>G (p.Asn361Asp) | gnomAD v4 |
| 11 | g.103125137A>T | CA382254950 | DYNC2H1 | c.1699A>T (p.Asn567Tyr) c.1081A>T (p.Asn361Tyr) | |
| 11 | g.103125138A>C | CA382254952 | DYNC2H1 | c.1700A>C (p.Asn567Thr) c.1082A>C (p.Asn361Thr) | |
| 11 | g.103125138A>G | CA382254953 | DYNC2H1 | c.1700A>G (p.Asn567Ser) c.1082A>G (p.Asn361Ser) | |
| 11 | g.103125138A>T | CA382254951 | DYNC2H1 | c.1700A>T (p.Asn567Ile) c.1082A>T (p.Asn361Ile) | |
| 11 | g.103125139T>A | CA382254955 | DYNC2H1 | c.1701T>A (p.Asn567Lys) c.1083T>A (p.Asn361Lys) | dbSNP |
| 11 | g.103125139T>C | CA476608014 | DYNC2H1 | c.1701T>C (p.Asn567=) c.1083T>C (p.Asn361=) | |
| 11 | g.103125139T>G | CA382254954 | DYNC2H1 | c.1701T>G (p.Asn567Lys) c.1083T>G (p.Asn361Lys) | dbSNP gnomAD v2 |
| 11 | g.103125139T= | CA1996392118 | DYNC2H1 | c.1701T= (p.Asn567=) c.1083T= (p.Asn361=) | |
| 11 | g.103125140G>A | CA382254957 | DYNC2H1 | c.1702G>A (p.Asp568Asn) c.1084G>A (p.Asp362Asn) | |
| 11 | g.103125140G>C | CA382254956 | DYNC2H1 | c.1702G>C (p.Asp568His) c.1084G>C (p.Asp362His) | |
| 11 | g.103125140G>T | CA382254958 | DYNC2H1 | c.1702G>T (p.Asp568Tyr) c.1084G>T (p.Asp362Tyr) | |
| 11 | g.103125141A>C | CA382254959 | DYNC2H1 | c.1703A>C (p.Asp568Ala) c.1085A>C (p.Asp362Ala) | |
| 11 | g.103125141A>G | CA382254961 | DYNC2H1 | c.1703A>G (p.Asp568Gly) c.1085A>G (p.Asp362Gly) | |
| 11 | g.103125141A>T | CA382254960 | DYNC2H1 | c.1703A>T (p.Asp568Val) c.1085A>T (p.Asp362Val) | |
| 11 | g.103125142T>A | CA382254962 | DYNC2H1 | c.1704T>A (p.Asp568Glu) c.1086T>A (p.Asp362Glu) | gnomAD v4 |
| 11 | g.103125142T>C | CA476608016 | DYNC2H1 | c.1704T>C (p.Asp568=) c.1086T>C (p.Asp362=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125142T>G | CA382254963 | DYNC2H1 | c.1704T>G (p.Asp568Glu) c.1086T>G (p.Asp362Glu) | |
| 11 | g.103125142T= | CA1996392119 | DYNC2H1 | c.1704T= (p.Asp568=) c.1086T= (p.Asp362=) | |
| 11 | g.103125143G>A | CA382254964 | DYNC2H1 | c.1705G>A (p.Gly569Arg) c.1087G>A (p.Gly363Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125143G>C | CA227402479 | DYNC2H1 | c.1705G>C (p.Gly569Arg) c.1087G>C (p.Gly363Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125143G= | CA1996392120 | DYNC2H1 | c.1705G= (p.Gly569=) c.1087G= (p.Gly363=) | |
| 11 | g.103125143G>T | CA382254965 | DYNC2H1 | c.1705G>T (p.Gly569Ter) c.1087G>T (p.Gly363Ter) | |
| 11 | g.103125144G>A | CA382254966 | DYNC2H1 | c.1706G>A (p.Gly569Glu) c.1088G>A (p.Gly363Glu) | gnomAD v4 |
| 11 | g.103125144G>C | CA382254967 | DYNC2H1 | c.1706G>C (p.Gly569Ala) c.1088G>C (p.Gly363Ala) | |
| 11 | g.103125144G>T | CA382254968 | DYNC2H1 | c.1706G>T (p.Gly569Val) c.1088G>T (p.Gly363Val) | gnomAD v4 |
| 11 | g.103125145A>C | CA476608024 | DYNC2H1 | c.1707A>C (p.Gly569=) c.1089A>C (p.Gly363=) | |
| 11 | g.103125145A>G | CA476608022 | DYNC2H1 | c.1707A>G (p.Gly569=) c.1089A>G (p.Gly363=) | ClinVar |
| 11 | g.103125145A>T | CA476608023 | DYNC2H1 | c.1707A>T (p.Gly569=) c.1089A>T (p.Gly363=) | |
| 11 | g.103125146T>A | CA382254969 | DYNC2H1 | c.1708T>A (p.Leu570Ile) c.1090T>A (p.Leu364Ile) | |
| 11 | g.103125146T>C | CA476608025 | DYNC2H1 | c.1708T>C (p.Leu570=) c.1090T>C (p.Leu364=) | gnomAD v4 |
| 11 | g.103125146T>G | CA382254970 | DYNC2H1 | c.1708T>G (p.Leu570Val) c.1090T>G (p.Leu364Val) | |
| 11 | g.103125147T>A | CA382254971 | DYNC2H1 | c.1709T>A (p.Leu570Ter) c.1091T>A (p.Leu364Ter) | |
| 11 | g.103125147T>C | CA382254972 | DYNC2H1 | c.1709T>C (p.Leu570Ser) c.1091T>C (p.Leu364Ser) | dbSNP |
| 11 | g.103125147T>G | CA382254973 | DYNC2H1 | c.1709T>G (p.Leu570Ter) c.1091T>G (p.Leu364Ter) | |
| 11 | g.103125148A>C | CA382254974 | DYNC2H1 | c.1710A>C (p.Leu570Phe) c.1092A>C (p.Leu364Phe) | |
| 11 | g.103125148A>G | CA476608027 | DYNC2H1 | c.1710A>G (p.Leu570=) c.1092A>G (p.Leu364=) | gnomAD v4 |
| 11 | g.103125148A>T | CA382254975 | DYNC2H1 | c.1710A>T (p.Leu570Phe) c.1092A>T (p.Leu364Phe) | gnomAD v4 |
| 11 | g.103125149C>A | CA382254976 | DYNC2H1 | c.1711C>A (p.Leu571Ile) c.1093C>A (p.Leu365Ile) | |
| 11 | g.103125149C>G | CA382254977 | DYNC2H1 | c.1711C>G (p.Leu571Val) c.1093C>G (p.Leu365Val) | |
| 11 | g.103125149C>T | CA476608028 | DYNC2H1 | c.1711C>T (p.Leu571=) c.1093C>T (p.Leu365=) | |
| 11 | g.103125150T>A | CA382254978 | DYNC2H1 | c.1712T>A (p.Leu571Gln) c.1094T>A (p.Leu365Gln) | |
| 11 | g.103125150T>C | CA382254979 | DYNC2H1 | c.1712T>C (p.Leu571Pro) c.1094T>C (p.Leu365Pro) | |
| 11 | g.103125150T>G | CA382254980 | DYNC2H1 | c.1712T>G (p.Leu571Arg) c.1094T>G (p.Leu365Arg) | |
| 11 | g.103125151A= | CA1996392121 | DYNC2H1 | c.1713A= (p.Leu571=) c.1095A= (p.Leu365=) | |
| 11 | g.103125151A>C | CA476608032 | DYNC2H1 | c.1713A>C (p.Leu571=) c.1095A>C (p.Leu365=) | |
| 11 | g.103125151A>G | CA476608030 | DYNC2H1 | c.1713A>G (p.Leu571=) c.1095A>G (p.Leu365=) | dbSNP |
| 11 | g.103125151A>T | CA476608031 | DYNC2H1 | c.1713A>T (p.Leu571=) c.1095A>T (p.Leu365=) | |
| 11 | g.103125152A= | CA1996392122 | DYNC2H1 | c.1714A= (p.Lys572=) c.1096A= (p.Lys366=) | |
| 11 | g.103125152A>C | CA382254981 | DYNC2H1 | c.1714A>C (p.Lys572Gln) c.1096A>C (p.Lys366Gln) | |
| 11 | g.103125152A>G | CA227402482 | DYNC2H1 | c.1714A>G (p.Lys572Glu) c.1096A>G (p.Lys366Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125152A>T | CA382254982 | DYNC2H1 | c.1714A>T (p.Lys572Ter) c.1096A>T (p.Lys366Ter) | |
| 11 | g.103125153A= | CA1996392123 | DYNC2H1 | c.1715A= (p.Lys572=) c.1097A= (p.Lys366=) | |
| 11 | g.103125153A>C | CA382254983 | DYNC2H1 | c.1715A>C (p.Lys572Thr) c.1097A>C (p.Lys366Thr) | |
| 11 | g.103125153A>G | CA382254984 | DYNC2H1 | c.1715A>G (p.Lys572Arg) c.1097A>G (p.Lys366Arg) | dbSNP |
| 11 | g.103125153A>T | CA6252863 | DYNC2H1 | c.1715A>T (p.Lys572Ile) c.1097A>T (p.Lys366Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125154A= | CA1996392124 | DYNC2H1 | c.1716A= (p.Lys572=) c.1098A= (p.Lys366=) | |
| 11 | g.103125154A>C | CA382254985 | DYNC2H1 | c.1716A>C (p.Lys572Asn) c.1098A>C (p.Lys366Asn) | |
| 11 | g.103125154A>G | CA6252864 | DYNC2H1 | c.1716A>G (p.Lys572=) c.1098A>G (p.Lys366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125154A>T | CA382254986 | DYNC2H1 | c.1716A>T (p.Lys572Asn) c.1098A>T (p.Lys366Asn) | |
| 11 | g.103125155G>A | CA6252865 | DYNC2H1 | c.1717G>A (p.Val573Met) c.1099G>A (p.Val367Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125155G>C | CA382254988 | DYNC2H1 | c.1717G>C (p.Val573Leu) c.1099G>C (p.Val367Leu) | gnomAD v4 |
| 11 | g.103125155G= | CA1996392125 | DYNC2H1 | c.1717G= (p.Val573=) c.1099G= (p.Val367=) | |
| 11 | g.103125155G>T | CA382254987 | DYNC2H1 | c.1717G>T (p.Val573Leu) c.1099G>T (p.Val367Leu) | |
| 11 | g.103125156T>A | CA382254989 | DYNC2H1 | c.1718T>A (p.Val573Glu) c.1100T>A (p.Val367Glu) | |
| 11 | g.103125156T>C | CA382254990 | DYNC2H1 | c.1718T>C (p.Val573Ala) c.1100T>C (p.Val367Ala) | COSMIC |
| 11 | g.103125156T>G | CA382254991 | DYNC2H1 | c.1718T>G (p.Val573Gly) c.1100T>G (p.Val367Gly) | |
| 11 | g.103125157G>A | CA476608041 | DYNC2H1 | c.1719G>A (p.Val573=) c.1101G>A (p.Val367=) | gnomAD v4 |
| 11 | g.103125157G>C | CA476608042 | DYNC2H1 | c.1719G>C (p.Val573=) c.1101G>C (p.Val367=) | |
| 11 | g.103125157G>T | CA476608043 | DYNC2H1 | c.1719G>T (p.Val573=) c.1101G>T (p.Val367=) | |
| 11 | g.103125158C>A | CA382254992 | DYNC2H1 | c.1720C>A (p.His574Asn) c.1102C>A (p.His368Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125158C= | CA1996392126 | DYNC2H1 | c.1720C= (p.His574=) c.1102C= (p.His368=) | |
| 11 | g.103125158C>G | CA382254993 | DYNC2H1 | c.1720C>G (p.His574Asp) c.1102C>G (p.His368Asp) | |
| 11 | g.103125158C>T | CA227402487 | DYNC2H1 | c.1720C>T (p.His574Tyr) c.1102C>T (p.His368Tyr) | dbSNP |
| 11 | g.103125159A= | CA1996392127 | DYNC2H1 | c.1721A= (p.His574=) c.1103A= (p.His368=) | |
| 11 | g.103125159A>C | CA382254994 | DYNC2H1 | c.1721A>C (p.His574Pro) c.1103A>C (p.His368Pro) | |
| 11 | g.103125159A>G | CA382254995 | DYNC2H1 | c.1721A>G (p.His574Arg) c.1103A>G (p.His368Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125159A>T | CA6252866 | DYNC2H1 | c.1721A>T (p.His574Leu) c.1103A>T (p.His368Leu) | dbSNP ExAC gnomAD v4 |
| 11 | g.103125160T>A | CA382254996 | DYNC2H1 | c.1722T>A (p.His574Gln) c.1104T>A (p.His368Gln) | |
| 11 | g.103125160T>C | CA476608050 | DYNC2H1 | c.1722T>C (p.His574=) c.1104T>C (p.His368=) | |
| 11 | g.103125160T>G | CA382254997 | DYNC2H1 | c.1722T>G (p.His574Gln) c.1104T>G (p.His368Gln) | |
| 11 | g.103125161T>A | CA382255000 | DYNC2H1 | c.1723T>A (p.Tyr575Asn) c.1105T>A (p.Tyr369Asn) | |
| 11 | g.103125161T>C | CA382254999 | DYNC2H1 | c.1723T>C (p.Tyr575His) c.1105T>C (p.Tyr369His) | |
| 11 | g.103125161T>G | CA382254998 | DYNC2H1 | c.1723T>G (p.Tyr575Asp) c.1105T>G (p.Tyr369Asp) | |
| 11 | g.103125162A>C | CA382255001 | DYNC2H1 | c.1724A>C (p.Tyr575Ser) c.1106A>C (p.Tyr369Ser) | |
| 11 | g.103125162A>G | CA382255002 | DYNC2H1 | c.1724A>G (p.Tyr575Cys) c.1106A>G (p.Tyr369Cys) | |
| 11 | g.103125162A>T | CA382255003 | DYNC2H1 | c.1724A>T (p.Tyr575Phe) c.1106A>T (p.Tyr369Phe) | |
| 11 | g.103125163T>A | CA382255004 | DYNC2H1 | c.1725T>A (p.Tyr575Ter) c.1107T>A (p.Tyr369Ter) | |
| 11 | g.103125163T>C | CA476608054 | DYNC2H1 | c.1725T>C (p.Tyr575=) c.1107T>C (p.Tyr369=) | |
| 11 | g.103125163T>G | CA382255005 | DYNC2H1 | c.1725T>G (p.Tyr575Ter) c.1107T>G (p.Tyr369Ter) | |
| 11 | g.103125164T>A | CA382255006 | DYNC2H1 | c.1726T>A (p.Ser576Thr) c.1108T>A (p.Ser370Thr) | |
| 11 | g.103125164T>C | CA382255007 | DYNC2H1 | c.1726T>C (p.Ser576Pro) c.1108T>C (p.Ser370Pro) | |
| 11 | g.103125164T>G | CA382255008 | DYNC2H1 | c.1726T>G (p.Ser576Ala) c.1108T>G (p.Ser370Ala) | |
| 11 | g.103125165C>A | CA382255009 | DYNC2H1 | c.1727C>A (p.Ser576Ter) c.1109C>A (p.Ser370Ter) | |
| 11 | g.103125165C= | CA1996392128 | DYNC2H1 | c.1727C= (p.Ser576=) c.1109C= (p.Ser370=) | |
| 11 | g.103125165C>G | CA382255010 | DYNC2H1 | c.1727C>G (p.Ser576Ter) c.1109C>G (p.Ser370Ter) | gnomAD v4 |
| 11 | g.103125165C>T | CA382255011 | DYNC2H1 | c.1727C>T (p.Ser576Leu) c.1109C>T (p.Ser370Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125166A= | CA1996392129 | DYNC2H1 | c.1728A= (p.Ser576=) c.1110A= (p.Ser370=) | |
| 11 | g.103125166A>C | CA476608058 | DYNC2H1 | c.1728A>C (p.Ser576=) c.1110A>C (p.Ser370=) | |
| 11 | g.103125166A>G | CA6252867 | DYNC2H1 | c.1728A>G (p.Ser576=) c.1110A>G (p.Ser370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125166A>T | CA476608059 | DYNC2H1 | c.1728A>T (p.Ser576=) c.1110A>T (p.Ser370=) | |
| 11 | g.103125167G>A | CA382255014 | DYNC2H1 | c.1729G>A (p.Asp577Asn) c.1111G>A (p.Asp371Asn) | |
| 11 | g.103125167G>C | CA382255013 | DYNC2H1 | c.1729G>C (p.Asp577His) c.1111G>C (p.Asp371His) | |
| 11 | g.103125167G>T | CA382255012 | DYNC2H1 | c.1729G>T (p.Asp577Tyr) c.1111G>T (p.Asp371Tyr) | |
| 11 | g.103125168A>C | CA382255016 | DYNC2H1 | c.1730A>C (p.Asp577Ala) c.1112A>C (p.Asp371Ala) | |
| 11 | g.103125168A>G | CA382255015 | DYNC2H1 | c.1730A>G (p.Asp577Gly) c.1112A>G (p.Asp371Gly) | |
| 11 | g.103125168A>T | CA382255017 | DYNC2H1 | c.1730A>T (p.Asp577Val) c.1112A>T (p.Asp371Val) |