UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.103125169T>A | CA382255018 | DYNC2H1 | c.1731T>A (p.Asp577Glu) c.1113T>A (p.Asp371Glu) | |
| 11 | g.103125169T>C | CA476608063 | DYNC2H1 | c.1731T>C (p.Asp577=) c.1113T>C (p.Asp371=) | |
| 11 | g.103125169T>G | CA382255019 | DYNC2H1 | c.1731T>G (p.Asp577Glu) c.1113T>G (p.Asp371Glu) | |
| 11 | g.103125170C>A | CA6252869 | DYNC2H1 | c.1732C>A (p.Arg578Ser) c.1114C>A (p.Arg372Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125170C= | CA1996392130 | DYNC2H1 | c.1732C= (p.Arg578=) c.1114C= (p.Arg372=) | |
| 11 | g.103125170C>G | CA6252868 | DYNC2H1 | c.1732C>G (p.Arg578Gly) c.1114C>G (p.Arg372Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125170C>T | CA382255020 | DYNC2H1 | c.1732C>T (p.Arg578Cys) c.1114C>T (p.Arg372Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.103125171G>A | CA6252870 | DYNC2H1 | c.1733G>A (p.Arg578His) c.1115G>A (p.Arg372His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103125171G>C | CA382255021 | DYNC2H1 | c.1733G>C (p.Arg578Pro) c.1115G>C (p.Arg372Pro) | |
| 11 | g.103125171G= | CA1996392131 | DYNC2H1 | c.1733G= (p.Arg578=) c.1115G= (p.Arg372=) | |
| 11 | g.103125171G>T | CA382255022 | DYNC2H1 | c.1733G>T (p.Arg578Leu) c.1115G>T (p.Arg372Leu) | |
| 11 | g.103125172T>A | CA476608071 | DYNC2H1 | c.1734T>A (p.Arg578=) c.1116T>A (p.Arg372=) | gnomAD v4 |
| 11 | g.103125172T>C | CA6252871 | DYNC2H1 | c.1734T>C (p.Arg578=) c.1116T>C (p.Arg372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125172T>G | CA476608073 | DYNC2H1 | c.1734T>G (p.Arg578=) c.1116T>G (p.Arg372=) | |
| 11 | g.103125172T= | CA1996392132 | DYNC2H1 | c.1734T= (p.Arg578=) c.1116T= (p.Arg372=) | |
| 11 | g.103125173T>A | CA382255023 | DYNC2H1 | c.1735T>A (p.Leu579Met) c.1117T>A (p.Leu373Met) | |
| 11 | g.103125173T>C | CA476608074 | DYNC2H1 | c.1735T>C (p.Leu579=) c.1117T>C (p.Leu373=) | |
| 11 | g.103125173T>G | CA382255024 | DYNC2H1 | c.1735T>G (p.Leu579Val) c.1117T>G (p.Leu373Val) | |
| 11 | g.103125174T>A | CA382255025 | DYNC2H1 | c.1736T>A (p.Leu579Ter) c.1118T>A (p.Leu373Ter) | |
| 11 | g.103125174T>C | CA382255026 | DYNC2H1 | c.1736T>C (p.Leu579Ser) c.1118T>C (p.Leu373Ser) | |
| 11 | g.103125174T>G | CA382255027 | DYNC2H1 | c.1736T>G (p.Leu579Trp) c.1118T>G (p.Leu373Trp) | |
| 11 | g.103125175G>A | CA476608078 | DYNC2H1 | c.1737G>A (p.Leu579=) c.1119G>A (p.Leu373=) | dbSNP gnomAD v2 |
| 11 | g.103125175G>C | CA382255028 | DYNC2H1 | c.1737G>C (p.Leu579Phe) c.1119G>C (p.Leu373Phe) | |
| 11 | g.103125175G= | CA1996392133 | DYNC2H1 | c.1737G= (p.Leu579=) c.1119G= (p.Leu373=) | |
| 11 | g.103125175G>T | CA382255029 | DYNC2H1 | c.1737G>T (p.Leu579Phe) c.1119G>T (p.Leu373Phe) | |
| 11 | g.103125176G>A | CA382255030 | DYNC2H1 | c.1738G>A (p.Val580Met) c.1120G>A (p.Val374Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125176G>C | CA382255031 | DYNC2H1 | c.1738G>C (p.Val580Leu) c.1120G>C (p.Val374Leu) | |
| 11 | g.103125176G= | CA1996392134 | DYNC2H1 | c.1738G= (p.Val580=) c.1120G= (p.Val374=) | |
| 11 | g.103125176G>T | CA382255032 | DYNC2H1 | c.1738G>T (p.Val580Leu) c.1120G>T (p.Val374Leu) | gnomAD v4 |
| 11 | g.103125177T>A | CA382255033 | DYNC2H1 | c.1739T>A (p.Val580Glu) c.1121T>A (p.Val374Glu) | |
| 11 | g.103125177T>C | CA382255034 | DYNC2H1 | c.1739T>C (p.Val580Ala) c.1121T>C (p.Val374Ala) | |
| 11 | g.103125177T>G | CA382255035 | DYNC2H1 | c.1739T>G (p.Val580Gly) c.1121T>G (p.Val374Gly) | |
| 11 | g.103125178G>A | CA476608082 | DYNC2H1 | c.1740G>A (p.Val580=) c.1122G>A (p.Val374=) | |
| 11 | g.103125178G>C | CA476608084 | DYNC2H1 | c.1740G>C (p.Val580=) c.1122G>C (p.Val374=) | |
| 11 | g.103125178G>T | CA476608086 | DYNC2H1 | c.1740G>T (p.Val580=) c.1122G>T (p.Val374=) | |
| 11 | g.103125179A>C | CA382255036 | DYNC2H1 | c.1741A>C (p.Ile581Leu) c.1123A>C (p.Ile375Leu) | |
| 11 | g.103125179A>G | CA382255037 | DYNC2H1 | c.1741A>G (p.Ile581Val) c.1123A>G (p.Ile375Val) | |
| 11 | g.103125179A>T | CA382255038 | DYNC2H1 | c.1741A>T (p.Ile581Phe) c.1123A>T (p.Ile375Phe) | gnomAD v4 |
| 11 | g.103125180T>A | CA382255039 | DYNC2H1 | c.1742T>A (p.Ile581Asn) c.1124T>A (p.Ile375Asn) | |
| 11 | g.103125180T>C | CA382255040 | DYNC2H1 | c.1742T>C (p.Ile581Thr) c.1124T>C (p.Ile375Thr) | |
| 11 | g.103125180T>G | CA6252872 | DYNC2H1 | c.1742T>G (p.Ile581Ser) c.1124T>G (p.Ile375Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.103125180T= | CA1996392135 | DYNC2H1 | c.1742T= (p.Ile581=) c.1124T= (p.Ile375=) | |
| 11 | g.103125181T>A | CA476608090 | DYNC2H1 | c.1743T>A (p.Ile581=) c.1125T>A (p.Ile375=) | gnomAD v4 |
| 11 | g.103125181T>C | CA476608093 | DYNC2H1 | c.1743T>C (p.Ile581=) c.1125T>C (p.Ile375=) | |
| 11 | g.103125181T>G | CA382255041 | DYNC2H1 | c.1743T>G (p.Ile581Met) c.1125T>G (p.Ile375Met) | |
| 11 | g.103125182C>A | CA382255044 | DYNC2H1 | c.1744C>A (p.Leu582Ile) c.1126C>A (p.Leu376Ile) | |
| 11 | g.103125182C>G | CA382255042 | DYNC2H1 | c.1744C>G (p.Leu582Val) c.1126C>G (p.Leu376Val) | |
| 11 | g.103125182C>T | CA382255043 | DYNC2H1 | c.1744C>T (p.Leu582Phe) c.1126C>T (p.Leu376Phe) | |
| 11 | g.103125183T>A | CA382255045 | DYNC2H1 | c.1745T>A (p.Leu582His) c.1127T>A (p.Leu376His) | |
| 11 | g.103125183T>C | CA382255046 | DYNC2H1 | c.1745T>C (p.Leu582Pro) c.1127T>C (p.Leu376Pro) | |
| 11 | g.103125183T>G | CA382255047 | DYNC2H1 | c.1745T>G (p.Leu582Arg) c.1127T>G (p.Leu376Arg) | |
| 11 | g.103125184T>A | CA476608098 | DYNC2H1 | c.1746T>A (p.Leu582=) c.1128T>A (p.Leu376=) | |
| 11 | g.103125184T>C | CA476608101 | DYNC2H1 | c.1746T>C (p.Leu582=) c.1128T>C (p.Leu376=) | |
| 11 | g.103125184T>G | CA476608099 | DYNC2H1 | c.1746T>G (p.Leu582=) c.1128T>G (p.Leu376=) | |
| 11 | g.103125185C>A | CA382255048 | DYNC2H1 | c.1747C>A (p.Leu583Met) c.1129C>A (p.Leu377Met) | |
| 11 | g.103125185C= | CA1996392136 | DYNC2H1 | c.1747C= (p.Leu583=) c.1129C= (p.Leu377=) | |
| 11 | g.103125185C>G | CA382255049 | DYNC2H1 | c.1747C>G (p.Leu583Val) c.1129C>G (p.Leu377Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125185C>T | CA476608104 | DYNC2H1 | c.1747C>T (p.Leu583=) c.1129C>T (p.Leu377=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125186T>A | CA382255050 | DYNC2H1 | c.1748T>A (p.Leu583Gln) c.1130T>A (p.Leu377Gln) | |
| 11 | g.103125186T>C | CA382255051 | DYNC2H1 | c.1748T>C (p.Leu583Pro) c.1130T>C (p.Leu377Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125186T>G | CA382255052 | DYNC2H1 | c.1748T>G (p.Leu583Arg) c.1130T>G (p.Leu377Arg) | dbSNP gnomAD v4 |
| 11 | g.103125186T= | CA1996392137 | DYNC2H1 | c.1748T= (p.Leu583=) c.1130T= (p.Leu377=) | |
| 11 | g.103125187G>A | CA476608108 | DYNC2H1 | c.1749G>A (p.Leu583=) c.1131G>A (p.Leu377=) | |
| 11 | g.103125187G>C | CA476608109 | DYNC2H1 | c.1749G>C (p.Leu583=) c.1131G>C (p.Leu377=) | |
| 11 | g.103125187G>T | CA476608110 | DYNC2H1 | c.1749G>T (p.Leu583=) c.1131G>T (p.Leu377=) | |
| 11 | g.103125188A>C | CA476608112 | DYNC2H1 | c.1750A>C (p.Arg584=) c.1132A>C (p.Arg378=) | |
| 11 | g.103125188A>G | CA382255053 | DYNC2H1 | c.1750A>G (p.Arg584Gly) c.1132A>G (p.Arg378Gly) | |
| 11 | g.103125188A>T | CA382255054 | DYNC2H1 | c.1750A>T (p.Arg584Ter) c.1132A>T (p.Arg378Ter) | |
| 11 | g.103125189G>A | CA382255056 | DYNC2H1 | c.1751G>A (p.Arg584Lys) c.1133G>A (p.Arg378Lys) | |
| 11 | g.103125189G>C | CA382255057 | DYNC2H1 | c.1751G>C (p.Arg584Thr) c.1133G>C (p.Arg378Thr) | |
| 11 | g.103125189G>T | CA382255055 | DYNC2H1 | c.1751G>T (p.Arg584Ile) c.1133G>T (p.Arg378Ile) | |
| 11 | g.103125190A= | CA1996392138 | DYNC2H1 | c.1752A= (p.Arg584=) c.1134A= (p.Arg378=) | |
| 11 | g.103125190A>C | CA382255058 | DYNC2H1 | c.1752A>C (p.Arg584Ser) c.1134A>C (p.Arg378Ser) | |
| 11 | g.103125190A>G | CA476608117 | DYNC2H1 | c.1752A>G (p.Arg584=) c.1134A>G (p.Arg378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125190A>T | CA382255059 | DYNC2H1 | c.1752A>T (p.Arg584Ser) c.1134A>T (p.Arg378Ser) | |
| 11 | g.103125191G>A | CA382255060 | DYNC2H1 | c.1753G>A (p.Glu585Lys) c.1135G>A (p.Glu379Lys) | |
| 11 | g.103125191G>C | CA382255061 | DYNC2H1 | c.1753G>C (p.Glu585Gln) c.1135G>C (p.Glu379Gln) | gnomAD v4 |
| 11 | g.103125191G>T | CA382255062 | DYNC2H1 | c.1753G>T (p.Glu585Ter) c.1135G>T (p.Glu379Ter) | |
| 11 | g.103125192A>C | CA382255065 | DYNC2H1 | c.1754A>C (p.Glu585Ala) c.1136A>C (p.Glu379Ala) | |
| 11 | g.103125192A>G | CA382255063 | DYNC2H1 | c.1754A>G (p.Glu585Gly) c.1136A>G (p.Glu379Gly) | |
| 11 | g.103125192A>T | CA382255064 | DYNC2H1 | c.1754A>T (p.Glu585Val) c.1136A>T (p.Glu379Val) | |
| 11 | g.103125193A= | CA1996392139 | DYNC2H1 | c.1755A= (p.Glu585=) c.1137A= (p.Glu379=) | |
| 11 | g.103125193A>C | CA382255066 | DYNC2H1 | c.1755A>C (p.Glu585Asp) c.1137A>C (p.Glu379Asp) | |
| 11 | g.103125193A>G | CA6252873 | DYNC2H1 | c.1755A>G (p.Glu585=) c.1137A>G (p.Glu379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125193A>T | CA382255067 | DYNC2H1 | c.1755A>T (p.Glu585Asp) c.1137A>T (p.Glu379Asp) | |
| 11 | g.103125194G>A | CA227402497 | DYNC2H1 | c.1756G>A (p.Val586Ile) c.1138G>A (p.Val380Ile) | dbSNP gnomAD v4 |
| 11 | g.103125194G>C | CA382255068 | DYNC2H1 | c.1756G>C (p.Val586Leu) c.1138G>C (p.Val380Leu) | dbSNP |
| 11 | g.103125194G= | CA1996392140 | DYNC2H1 | c.1756G= (p.Val586=) c.1138G= (p.Val380=) | |
| 11 | g.103125194G>T | CA382255069 | DYNC2H1 | c.1756G>T (p.Val586Phe) c.1138G>T (p.Val380Phe) | |
| 11 | g.103125195T>A | CA382255070 | DYNC2H1 | c.1757T>A (p.Val586Asp) c.1139T>A (p.Val380Asp) | |
| 11 | g.103125195T>C | CA382255071 | DYNC2H1 | c.1757T>C (p.Val586Ala) c.1139T>C (p.Val380Ala) | |
| 11 | g.103125195T>G | CA350469 | DYNC2H1 | c.1757T>G (p.Val586Gly) c.1139T>G (p.Val380Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125195T= | CA1996392141 | DYNC2H1 | c.1757T= (p.Val586=) c.1139T= (p.Val380=) | |
| 11 | g.103125196T>A | CA476608127 | DYNC2H1 | c.1758T>A (p.Val586=) c.1140T>A (p.Val380=) | |
| 11 | g.103125196T>C | CA476608128 | DYNC2H1 | c.1758T>C (p.Val586=) c.1140T>C (p.Val380=) | |
| 11 | g.103125196T>G | CA476608130 | DYNC2H1 | c.1758T>G (p.Val586=) c.1140T>G (p.Val380=) | |
| 11 | g.103125197C>A | CA382255072 | DYNC2H1 | c.1759C>A (p.Arg587Ser) c.1141C>A (p.Arg381Ser) | |
| 11 | g.103125197C= | CA1996392142 | DYNC2H1 | c.1759C= (p.Arg587=) c.1141C= (p.Arg381=) | |
| 11 | g.103125197C>G | CA382255073 | DYNC2H1 | c.1759C>G (p.Arg587Gly) c.1141C>G (p.Arg381Gly) | |
| 11 | g.103125197C>T | CA210505 | DYNC2H1 | c.1759C>T (p.Arg587Cys) c.1141C>T (p.Arg381Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125198G>A | CA382255074 | DYNC2H1 | c.1760G>A (p.Arg587His) c.1142G>A (p.Arg381His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125198G>C | CA382255076 | DYNC2H1 | c.1760G>C (p.Arg587Pro) c.1142G>C (p.Arg381Pro) | |
| 11 | g.103125198G= | CA1996392143 | DYNC2H1 | c.1760G= (p.Arg587=) c.1142G= (p.Arg381=) | |
| 11 | g.103125198G>T | CA382255075 | DYNC2H1 | c.1760G>T (p.Arg587Leu) c.1142G>T (p.Arg381Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125199T>A | CA476608138 | DYNC2H1 | c.1761T>A (p.Arg587=) c.1143T>A (p.Arg381=) | |
| 11 | g.103125199T>C | CA476608139 | DYNC2H1 | c.1761T>C (p.Arg587=) c.1143T>C (p.Arg381=) | |
| 11 | g.103125199T>G | CA476608142 | DYNC2H1 | c.1761T>G (p.Arg587=) c.1143T>G (p.Arg381=) | |
| 11 | g.103125200C>A | CA6252874 | DYNC2H1 | c.1762C>A (p.Gln588Lys) c.1144C>A (p.Gln382Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125200C= | CA1996392144 | DYNC2H1 | c.1762C= (p.Gln588=) c.1144C= (p.Gln382=) | |
| 11 | g.103125200C>G | CA382255077 | DYNC2H1 | c.1762C>G (p.Gln588Glu) c.1144C>G (p.Gln382Glu) | |
| 11 | g.103125200C>T | CA382255078 | DYNC2H1 | c.1762C>T (p.Gln588Ter) c.1144C>T (p.Gln382Ter) | |
| 11 | g.103125201A>C | CA382255079 | DYNC2H1 | c.1763A>C (p.Gln588Pro) c.1145A>C (p.Gln382Pro) | |
| 11 | g.103125201A>G | CA382255080 | DYNC2H1 | c.1763A>G (p.Gln588Arg) c.1145A>G (p.Gln382Arg) | gnomAD v4 |
| 11 | g.103125201A>T | CA382255081 | DYNC2H1 | c.1763A>T (p.Gln588Leu) c.1145A>T (p.Gln382Leu) | |
| 11 | g.103125202G>A | CA476608147 | DYNC2H1 | c.1764G>A (p.Gln588=) c.1146G>A (p.Gln382=) | |
| 11 | g.103125202G>C | CA382255082 | DYNC2H1 | c.1764G>C (p.Gln588His) c.1146G>C (p.Gln382His) | |
| 11 | g.103125202G>T | CA382255083 | DYNC2H1 | c.1764G>T (p.Gln588His) c.1146G>T (p.Gln382His) | |
| 11 | g.103125202_103125204delinsGCT | CA1996392145 | DYNC2H1 | c.1764_1766delinsGCT (p.Gln588=) c.1146_1148delinsGCT (p.Gln382=) | |
| 11 | g.103125203C>A | CA382255084 | DYNC2H1 | c.1765C>A (p.Leu589Ile) c.1147C>A (p.Leu383Ile) | |
| 11 | g.103125203C>G | CA382255085 | DYNC2H1 | c.1765C>G (p.Leu589Val) c.1147C>G (p.Leu383Val) | |
| 11 | g.103125203C>T | CA382255086 | DYNC2H1 | c.1765C>T (p.Leu589Phe) c.1147C>T (p.Leu383Phe) | |
| 11 | g.103125207_103125208del | CA601235017 | DYNC2H1 | c.1769_1770del (p.Ser590CysfsTer28) c.1151_1152del (p.Ser384CysfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125204T>A | CA382255087 | DYNC2H1 | c.1766T>A (p.Leu589His) c.1148T>A (p.Leu383His) | |
| 11 | g.103125204T>C | CA382255089 | DYNC2H1 | c.1766T>C (p.Leu589Pro) c.1148T>C (p.Leu383Pro) | |
| 11 | g.103125204T>G | CA382255088 | DYNC2H1 | c.1766T>G (p.Leu589Arg) c.1148T>G (p.Leu383Arg) | |
| 11 | g.103125205C>A | CA476608158 | DYNC2H1 | c.1767C>A (p.Leu589=) c.1149C>A (p.Leu383=) | |
| 11 | g.103125205C= | CA1996392146 | DYNC2H1 | c.1767C= (p.Leu589=) c.1149C= (p.Leu383=) | |
| 11 | g.103125205C>G | CA227402503 | DYNC2H1 | c.1767C>G (p.Leu589=) c.1149C>G (p.Leu383=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125205C>T | CA476608159 | DYNC2H1 | c.1767C>T (p.Leu589=) c.1149C>T (p.Leu383=) |