Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.103125170C>ACA6252869DYNC2H1c.1732C>A (p.Arg578Ser)
c.1114C>A (p.Arg372Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.103125170C=CA1996392130DYNC2H1c.1732C= (p.Arg578=)
c.1114C= (p.Arg372=)
11g.103125170C>GCA6252868DYNC2H1c.1732C>G (p.Arg578Gly)
c.1114C>G (p.Arg372Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125170C>TCA382255020DYNC2H1c.1732C>T (p.Arg578Cys)
c.1114C>T (p.Arg372Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.103125171G>ACA6252870DYNC2H1c.1733G>A (p.Arg578His)
c.1115G>A (p.Arg372His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.103125171G>CCA382255021DYNC2H1c.1733G>C (p.Arg578Pro)
c.1115G>C (p.Arg372Pro)
11g.103125171G=CA1996392131DYNC2H1c.1733G= (p.Arg578=)
c.1115G= (p.Arg372=)
11g.103125171G>TCA382255022DYNC2H1c.1733G>T (p.Arg578Leu)
c.1115G>T (p.Arg372Leu)
11g.103125172T>ACA476608071DYNC2H1c.1734T>A (p.Arg578=)
c.1116T>A (p.Arg372=)
 gnomAD v4
11g.103125172T>CCA6252871DYNC2H1c.1734T>C (p.Arg578=)
c.1116T>C (p.Arg372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125172T>GCA476608073DYNC2H1c.1734T>G (p.Arg578=)
c.1116T>G (p.Arg372=)
11g.103125172T=CA1996392132DYNC2H1c.1734T= (p.Arg578=)
c.1116T= (p.Arg372=)
11g.103125173T>ACA382255023DYNC2H1c.1735T>A (p.Leu579Met)
c.1117T>A (p.Leu373Met)
11g.103125173T>CCA476608074DYNC2H1c.1735T>C (p.Leu579=)
c.1117T>C (p.Leu373=)
11g.103125173T>GCA382255024DYNC2H1c.1735T>G (p.Leu579Val)
c.1117T>G (p.Leu373Val)
11g.103125174T>ACA382255025DYNC2H1c.1736T>A (p.Leu579Ter)
c.1118T>A (p.Leu373Ter)
11g.103125174T>CCA382255026DYNC2H1c.1736T>C (p.Leu579Ser)
c.1118T>C (p.Leu373Ser)
11g.103125174T>GCA382255027DYNC2H1c.1736T>G (p.Leu579Trp)
c.1118T>G (p.Leu373Trp)
11g.103125175G>ACA476608078DYNC2H1c.1737G>A (p.Leu579=)
c.1119G>A (p.Leu373=)
 dbSNP gnomAD v2
11g.103125175G>CCA382255028DYNC2H1c.1737G>C (p.Leu579Phe)
c.1119G>C (p.Leu373Phe)
11g.103125175G=CA1996392133DYNC2H1c.1737G= (p.Leu579=)
c.1119G= (p.Leu373=)
11g.103125175G>TCA382255029DYNC2H1c.1737G>T (p.Leu579Phe)
c.1119G>T (p.Leu373Phe)
11g.103125176G>ACA382255030DYNC2H1c.1738G>A (p.Val580Met)
c.1120G>A (p.Val374Met)
 dbSNP gnomAD v2 gnomAD v4
11g.103125176G>CCA382255031DYNC2H1c.1738G>C (p.Val580Leu)
c.1120G>C (p.Val374Leu)
11g.103125176G=CA1996392134DYNC2H1c.1738G= (p.Val580=)
c.1120G= (p.Val374=)
11g.103125176G>TCA382255032DYNC2H1c.1738G>T (p.Val580Leu)
c.1120G>T (p.Val374Leu)
 gnomAD v4
11g.103125177T>ACA382255033DYNC2H1c.1739T>A (p.Val580Glu)
c.1121T>A (p.Val374Glu)
11g.103125177T>CCA382255034DYNC2H1c.1739T>C (p.Val580Ala)
c.1121T>C (p.Val374Ala)
11g.103125177T>GCA382255035DYNC2H1c.1739T>G (p.Val580Gly)
c.1121T>G (p.Val374Gly)
11g.103125178G>ACA476608082DYNC2H1c.1740G>A (p.Val580=)
c.1122G>A (p.Val374=)
11g.103125178G>CCA476608084DYNC2H1c.1740G>C (p.Val580=)
c.1122G>C (p.Val374=)
11g.103125178G>TCA476608086DYNC2H1c.1740G>T (p.Val580=)
c.1122G>T (p.Val374=)
11g.103125179A>CCA382255036DYNC2H1c.1741A>C (p.Ile581Leu)
c.1123A>C (p.Ile375Leu)
11g.103125179A>GCA382255037DYNC2H1c.1741A>G (p.Ile581Val)
c.1123A>G (p.Ile375Val)
11g.103125179A>TCA382255038DYNC2H1c.1741A>T (p.Ile581Phe)
c.1123A>T (p.Ile375Phe)
 gnomAD v4
11g.103125180T>ACA382255039DYNC2H1c.1742T>A (p.Ile581Asn)
c.1124T>A (p.Ile375Asn)
11g.103125180T>CCA382255040DYNC2H1c.1742T>C (p.Ile581Thr)
c.1124T>C (p.Ile375Thr)
11g.103125180T>GCA6252872DYNC2H1c.1742T>G (p.Ile581Ser)
c.1124T>G (p.Ile375Ser)
 dbSNP ExAC gnomAD v2
11g.103125180T=CA1996392135DYNC2H1c.1742T= (p.Ile581=)
c.1124T= (p.Ile375=)
11g.103125181T>ACA476608090DYNC2H1c.1743T>A (p.Ile581=)
c.1125T>A (p.Ile375=)
 gnomAD v4
11g.103125181T>CCA476608093DYNC2H1c.1743T>C (p.Ile581=)
c.1125T>C (p.Ile375=)
11g.103125181T>GCA382255041DYNC2H1c.1743T>G (p.Ile581Met)
c.1125T>G (p.Ile375Met)
11g.103125182C>ACA382255044DYNC2H1c.1744C>A (p.Leu582Ile)
c.1126C>A (p.Leu376Ile)
11g.103125182C>GCA382255042DYNC2H1c.1744C>G (p.Leu582Val)
c.1126C>G (p.Leu376Val)
11g.103125182C>TCA382255043DYNC2H1c.1744C>T (p.Leu582Phe)
c.1126C>T (p.Leu376Phe)
11g.103125183T>ACA382255045DYNC2H1c.1745T>A (p.Leu582His)
c.1127T>A (p.Leu376His)
11g.103125183T>CCA382255046DYNC2H1c.1745T>C (p.Leu582Pro)
c.1127T>C (p.Leu376Pro)
11g.103125183T>GCA382255047DYNC2H1c.1745T>G (p.Leu582Arg)
c.1127T>G (p.Leu376Arg)
11g.103125184T>ACA476608098DYNC2H1c.1746T>A (p.Leu582=)
c.1128T>A (p.Leu376=)
11g.103125184T>CCA476608101DYNC2H1c.1746T>C (p.Leu582=)
c.1128T>C (p.Leu376=)
11g.103125184T>GCA476608099DYNC2H1c.1746T>G (p.Leu582=)
c.1128T>G (p.Leu376=)
11g.103125185C>ACA382255048DYNC2H1c.1747C>A (p.Leu583Met)
c.1129C>A (p.Leu377Met)
11g.103125185C=CA1996392136DYNC2H1c.1747C= (p.Leu583=)
c.1129C= (p.Leu377=)
11g.103125185C>GCA382255049DYNC2H1c.1747C>G (p.Leu583Val)
c.1129C>G (p.Leu377Val)
 dbSNP gnomAD v3 gnomAD v4
11g.103125185C>TCA476608104DYNC2H1c.1747C>T (p.Leu583=)
c.1129C>T (p.Leu377=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125186T>ACA382255050DYNC2H1c.1748T>A (p.Leu583Gln)
c.1130T>A (p.Leu377Gln)
11g.103125186T>CCA382255051DYNC2H1c.1748T>C (p.Leu583Pro)
c.1130T>C (p.Leu377Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.103125186T>GCA382255052DYNC2H1c.1748T>G (p.Leu583Arg)
c.1130T>G (p.Leu377Arg)
 dbSNP gnomAD v4
11g.103125186T=CA1996392137DYNC2H1c.1748T= (p.Leu583=)
c.1130T= (p.Leu377=)
11g.103125187G>ACA476608108DYNC2H1c.1749G>A (p.Leu583=)
c.1131G>A (p.Leu377=)
11g.103125187G>CCA476608109DYNC2H1c.1749G>C (p.Leu583=)
c.1131G>C (p.Leu377=)
11g.103125187G>TCA476608110DYNC2H1c.1749G>T (p.Leu583=)
c.1131G>T (p.Leu377=)
11g.103125188A>CCA476608112DYNC2H1c.1750A>C (p.Arg584=)
c.1132A>C (p.Arg378=)
11g.103125188A>GCA382255053DYNC2H1c.1750A>G (p.Arg584Gly)
c.1132A>G (p.Arg378Gly)
11g.103125188A>TCA382255054DYNC2H1c.1750A>T (p.Arg584Ter)
c.1132A>T (p.Arg378Ter)
11g.103125189G>ACA382255056DYNC2H1c.1751G>A (p.Arg584Lys)
c.1133G>A (p.Arg378Lys)
11g.103125189G>CCA382255057DYNC2H1c.1751G>C (p.Arg584Thr)
c.1133G>C (p.Arg378Thr)
11g.103125189G>TCA382255055DYNC2H1c.1751G>T (p.Arg584Ile)
c.1133G>T (p.Arg378Ile)
11g.103125190A=CA1996392138DYNC2H1c.1752A= (p.Arg584=)
c.1134A= (p.Arg378=)
11g.103125190A>CCA382255058DYNC2H1c.1752A>C (p.Arg584Ser)
c.1134A>C (p.Arg378Ser)
11g.103125190A>GCA476608117DYNC2H1c.1752A>G (p.Arg584=)
c.1134A>G (p.Arg378=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125190A>TCA382255059DYNC2H1c.1752A>T (p.Arg584Ser)
c.1134A>T (p.Arg378Ser)
11g.103125191G>ACA382255060DYNC2H1c.1753G>A (p.Glu585Lys)
c.1135G>A (p.Glu379Lys)
11g.103125191G>CCA382255061DYNC2H1c.1753G>C (p.Glu585Gln)
c.1135G>C (p.Glu379Gln)
 gnomAD v4
11g.103125191G>TCA382255062DYNC2H1c.1753G>T (p.Glu585Ter)
c.1135G>T (p.Glu379Ter)
11g.103125192A>CCA382255065DYNC2H1c.1754A>C (p.Glu585Ala)
c.1136A>C (p.Glu379Ala)
11g.103125192A>GCA382255063DYNC2H1c.1754A>G (p.Glu585Gly)
c.1136A>G (p.Glu379Gly)
11g.103125192A>TCA382255064DYNC2H1c.1754A>T (p.Glu585Val)
c.1136A>T (p.Glu379Val)
11g.103125193A=CA1996392139DYNC2H1c.1755A= (p.Glu585=)
c.1137A= (p.Glu379=)
11g.103125193A>CCA382255066DYNC2H1c.1755A>C (p.Glu585Asp)
c.1137A>C (p.Glu379Asp)
11g.103125193A>GCA6252873DYNC2H1c.1755A>G (p.Glu585=)
c.1137A>G (p.Glu379=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.103125193A>TCA382255067DYNC2H1c.1755A>T (p.Glu585Asp)
c.1137A>T (p.Glu379Asp)
11g.103125194G>ACA227402497DYNC2H1c.1756G>A (p.Val586Ile)
c.1138G>A (p.Val380Ile)
 dbSNP gnomAD v4
11g.103125194G>CCA382255068DYNC2H1c.1756G>C (p.Val586Leu)
c.1138G>C (p.Val380Leu)
 dbSNP
11g.103125194G=CA1996392140DYNC2H1c.1756G= (p.Val586=)
c.1138G= (p.Val380=)
11g.103125194G>TCA382255069DYNC2H1c.1756G>T (p.Val586Phe)
c.1138G>T (p.Val380Phe)
11g.103125195T>ACA382255070DYNC2H1c.1757T>A (p.Val586Asp)
c.1139T>A (p.Val380Asp)
11g.103125195T>CCA382255071DYNC2H1c.1757T>C (p.Val586Ala)
c.1139T>C (p.Val380Ala)
11g.103125195T>GCA350469DYNC2H1c.1757T>G (p.Val586Gly)
c.1139T>G (p.Val380Gly)
 ClinVar dbSNP gnomAD v4
11g.103125195T=CA1996392141DYNC2H1c.1757T= (p.Val586=)
c.1139T= (p.Val380=)
11g.103125196T>ACA476608127DYNC2H1c.1758T>A (p.Val586=)
c.1140T>A (p.Val380=)
11g.103125196T>CCA476608128DYNC2H1c.1758T>C (p.Val586=)
c.1140T>C (p.Val380=)
11g.103125196T>GCA476608130DYNC2H1c.1758T>G (p.Val586=)
c.1140T>G (p.Val380=)
11g.103125197C>ACA382255072DYNC2H1c.1759C>A (p.Arg587Ser)
c.1141C>A (p.Arg381Ser)
11g.103125197C=CA1996392142DYNC2H1c.1759C= (p.Arg587=)
c.1141C= (p.Arg381=)
11g.103125197C>GCA382255073DYNC2H1c.1759C>G (p.Arg587Gly)
c.1141C>G (p.Arg381Gly)
11g.103125197C>TCA210505DYNC2H1c.1759C>T (p.Arg587Cys)
c.1141C>T (p.Arg381Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125198G>ACA382255074DYNC2H1c.1760G>A (p.Arg587His)
c.1142G>A (p.Arg381His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125198G>CCA382255076DYNC2H1c.1760G>C (p.Arg587Pro)
c.1142G>C (p.Arg381Pro)
11g.103125198G=CA1996392143DYNC2H1c.1760G= (p.Arg587=)
c.1142G= (p.Arg381=)
11g.103125198G>TCA382255075DYNC2H1c.1760G>T (p.Arg587Leu)
c.1142G>T (p.Arg381Leu)
 ClinVar dbSNP gnomAD v4
11g.103125199T>ACA476608138DYNC2H1c.1761T>A (p.Arg587=)
c.1143T>A (p.Arg381=)
11g.103125199T>CCA476608139DYNC2H1c.1761T>C (p.Arg587=)
c.1143T>C (p.Arg381=)
11g.103125199T>GCA476608142DYNC2H1c.1761T>G (p.Arg587=)
c.1143T>G (p.Arg381=)
11g.103125200C>ACA6252874DYNC2H1c.1762C>A (p.Gln588Lys)
c.1144C>A (p.Gln382Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.103125200C=CA1996392144DYNC2H1c.1762C= (p.Gln588=)
c.1144C= (p.Gln382=)
11g.103125200C>GCA382255077DYNC2H1c.1762C>G (p.Gln588Glu)
c.1144C>G (p.Gln382Glu)
11g.103125200C>TCA382255078DYNC2H1c.1762C>T (p.Gln588Ter)
c.1144C>T (p.Gln382Ter)
11g.103125201A>CCA382255079DYNC2H1c.1763A>C (p.Gln588Pro)
c.1145A>C (p.Gln382Pro)
11g.103125201A>GCA382255080DYNC2H1c.1763A>G (p.Gln588Arg)
c.1145A>G (p.Gln382Arg)
 gnomAD v4
11g.103125201A>TCA382255081DYNC2H1c.1763A>T (p.Gln588Leu)
c.1145A>T (p.Gln382Leu)
11g.103125202G>ACA476608147DYNC2H1c.1764G>A (p.Gln588=)
c.1146G>A (p.Gln382=)
11g.103125202G>CCA382255082DYNC2H1c.1764G>C (p.Gln588His)
c.1146G>C (p.Gln382His)
11g.103125202G>TCA382255083DYNC2H1c.1764G>T (p.Gln588His)
c.1146G>T (p.Gln382His)
11g.103125202_103125204delinsGCTCA1996392145DYNC2H1c.1764_1766delinsGCT (p.Gln588=)
c.1146_1148delinsGCT (p.Gln382=)
11g.103125203C>ACA382255084DYNC2H1c.1765C>A (p.Leu589Ile)
c.1147C>A (p.Leu383Ile)
11g.103125203C>GCA382255085DYNC2H1c.1765C>G (p.Leu589Val)
c.1147C>G (p.Leu383Val)
11g.103125203C>TCA382255086DYNC2H1c.1765C>T (p.Leu589Phe)
c.1147C>T (p.Leu383Phe)
11g.103125207_103125208delCA601235017DYNC2H1c.1769_1770del (p.Ser590CysfsTer28)
c.1151_1152del (p.Ser384CysfsTer28)
 dbSNP gnomAD v2 gnomAD v4
11g.103125204T>ACA382255087DYNC2H1c.1766T>A (p.Leu589His)
c.1148T>A (p.Leu383His)
11g.103125204T>CCA382255089DYNC2H1c.1766T>C (p.Leu589Pro)
c.1148T>C (p.Leu383Pro)
11g.103125204T>GCA382255088DYNC2H1c.1766T>G (p.Leu589Arg)
c.1148T>G (p.Leu383Arg)
11g.103125205C>ACA476608158DYNC2H1c.1767C>A (p.Leu589=)
c.1149C>A (p.Leu383=)
11g.103125205C=CA1996392146DYNC2H1c.1767C= (p.Leu589=)
c.1149C= (p.Leu383=)
11g.103125205C>GCA227402503DYNC2H1c.1767C>G (p.Leu589=)
c.1149C>G (p.Leu383=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125205C>TCA476608159DYNC2H1c.1767C>T (p.Leu589=)
c.1149C>T (p.Leu383=)
11g.103125206T>ACA382255090DYNC2H1c.1768T>A (p.Ser590Thr)
c.1150T>A (p.Ser384Thr)
11g.103125206T>CCA382255091DYNC2H1c.1768T>C (p.Ser590Pro)
c.1150T>C (p.Ser384Pro)
 COSMIC
11g.103125206T>GCA382255092DYNC2H1c.1768T>G (p.Ser590Ala)
c.1150T>G (p.Ser384Ala)
11g.103125207C>ACA382255093DYNC2H1c.1769C>A (p.Ser590Tyr)
c.1151C>A (p.Ser384Tyr)
11g.103125207C=CA1996392147DYNC2H1c.1769C= (p.Ser590=)
c.1151C= (p.Ser384=)
11g.103125207C>GCA382255094DYNC2H1c.1769C>G (p.Ser590Cys)
c.1151C>G (p.Ser384Cys)
11g.103125207C>TCA382255095DYNC2H1c.1769C>T (p.Ser590Phe)
c.1151C>T (p.Ser384Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.103125208T>ACA476608163DYNC2H1c.1770T>A (p.Ser590=)
c.1152T>A (p.Ser384=)
11g.103125208T>CCA476608164DYNC2H1c.1770T>C (p.Ser590=)
c.1152T>C (p.Ser384=)
 ClinVar gnomAD v4
11g.103125208T>GCA476608166DYNC2H1c.1770T>G (p.Ser590=)
c.1152T>G (p.Ser384=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125208T=CA1996392148DYNC2H1c.1770T= (p.Ser590=)
c.1152T= (p.Ser384=)
11g.103125209G>ACA382255096DYNC2H1c.1771G>A (p.Ala591Thr)
c.1153G>A (p.Ala385Thr)
11g.103125209G>CCA382255097DYNC2H1c.1771G>C (p.Ala591Pro)
c.1153G>C (p.Ala385Pro)
11g.103125209G>TCA382255098DYNC2H1c.1771G>T (p.Ala591Ser)
c.1153G>T (p.Ala385Ser)
11g.103125210C>ACA382255100DYNC2H1c.1772C>A (p.Ala591Glu)
c.1154C>A (p.Ala385Glu)
11g.103125210C=CA1996392149DYNC2H1c.1772C= (p.Ala591=)
c.1154C= (p.Ala385=)
11g.103125210C>GCA382255101DYNC2H1c.1772C>G (p.Ala591Gly)
c.1154C>G (p.Ala385Gly)
11g.103125210C>TCA382255099DYNC2H1c.1772C>T (p.Ala591Val)
c.1154C>T (p.Ala385Val)
 dbSNP gnomAD v4
11g.103125211A=CA1996392150DYNC2H1c.1773A= (p.Ala591=)
c.1155A= (p.Ala385=)
11g.103125211A>CCA476608173DYNC2H1c.1773A>C (p.Ala591=)
c.1155A>C (p.Ala385=)
 gnomAD v4
11g.103125211A>GCA6252875DYNC2H1c.1773A>G (p.Ala591=)
c.1155A>G (p.Ala385=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125211A>TCA476608174DYNC2H1c.1773A>T (p.Ala591=)
c.1155A>T (p.Ala385=)
 gnomAD v4
11g.103125212C>ACA382255102DYNC2H1c.1774C>A (p.Leu592Ile)
c.1156C>A (p.Leu386Ile)
11g.103125212C=CA1996392151DYNC2H1c.1774C= (p.Leu592=)
c.1156C= (p.Leu386=)
11g.103125212C>GCA382255103DYNC2H1c.1774C>G (p.Leu592Val)
c.1156C>G (p.Leu386Val)
 gnomAD v4
11g.103125212C>TCA335913DYNC2H1c.1774C>T (p.Leu592Phe)
c.1156C>T (p.Leu386Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125213T>ACA382255106DYNC2H1c.1775T>A (p.Leu592His)
c.1157T>A (p.Leu386His)
 gnomAD v4
11g.103125213T>CCA382255105DYNC2H1c.1775T>C (p.Leu592Pro)
c.1157T>C (p.Leu386Pro)
11g.103125213T>GCA382255104DYNC2H1c.1775T>G (p.Leu592Arg)
c.1157T>G (p.Leu386Arg)
11g.103125214T>ACA476608181DYNC2H1c.1776T>A (p.Leu592=)
c.1158T>A (p.Leu386=)
11g.103125214T>CCA476608183DYNC2H1c.1776T>C (p.Leu592=)
c.1158T>C (p.Leu386=)
11g.103125214T>GCA476608182DYNC2H1c.1776T>G (p.Leu592=)
c.1158T>G (p.Leu386=)
11g.103125215G>ACA382255107DYNC2H1c.1777G>A (p.Gly593Ser)
c.1159G>A (p.Gly387Ser)
11g.103125215G>CCA382255108DYNC2H1c.1777G>C (p.Gly593Arg)
c.1159G>C (p.Gly387Arg)
11g.103125215G>TCA382255109DYNC2H1c.1777G>T (p.Gly593Cys)
c.1159G>T (p.Gly387Cys)
11g.103125216G>ACA6252876DYNC2H1c.1778G>A (p.Gly593Asp)
c.1160G>A (p.Gly387Asp)
 dbSNP ExAC gnomAD v2
11g.103125216G>CCA382255110DYNC2H1c.1778G>C (p.Gly593Ala)
c.1160G>C (p.Gly387Ala)
11g.103125216G=CA1996392152DYNC2H1c.1778G= (p.Gly593=)
c.1160G= (p.Gly387=)
11g.103125216G>TCA382255111DYNC2H1c.1778G>T (p.Gly593Val)
c.1160G>T (p.Gly387Val)
11g.103125217C>ACA476608186DYNC2H1c.1779C>A (p.Gly593=)
c.1161C>A (p.Gly387=)
11g.103125217C>GCA476608188DYNC2H1c.1779C>G (p.Gly593=)
c.1161C>G (p.Gly387=)
11g.103125217C>TCA476608189DYNC2H1c.1779C>T (p.Gly593=)
c.1161C>T (p.Gly387=)
11g.103125218T>ACA382255112DYNC2H1c.1780T>A (p.Phe594Ile)
c.1162T>A (p.Phe388Ile)
11g.103125218T>CCA382255114DYNC2H1c.1780T>C (p.Phe594Leu)
c.1162T>C (p.Phe388Leu)
11g.103125218T>GCA382255113DYNC2H1c.1780T>G (p.Phe594Val)
c.1162T>G (p.Phe388Val)
 gnomAD v4
11g.103125219T>ACA382255115DYNC2H1c.1781T>A (p.Phe594Tyr)
c.1163T>A (p.Phe388Tyr)
11g.103125219T>CCA382255116DYNC2H1c.1781T>C (p.Phe594Ser)
c.1163T>C (p.Phe388Ser)
11g.103125219T>GCA382255117DYNC2H1c.1781T>G (p.Phe594Cys)
c.1163T>G (p.Phe388Cys)
11g.103125220T>ACA382255118DYNC2H1c.1782T>A (p.Phe594Leu)
c.1164T>A (p.Phe388Leu)
11g.103125220T>CCA476608196DYNC2H1c.1782T>C (p.Phe594=)
c.1164T>C (p.Phe388=)
11g.103125220T>GCA382255119DYNC2H1c.1782T>G (p.Phe594Leu)
c.1164T>G (p.Phe388Leu)
11g.103125221G>ACA382255120DYNC2H1c.1783G>A (p.Val595Ile)
c.1165G>A (p.Val389Ile)
11g.103125221G>CCA382255121DYNC2H1c.1783G>C (p.Val595Leu)
c.1165G>C (p.Val389Leu)
11g.103125221G=CA1996392153DYNC2H1c.1783G= (p.Val595=)
c.1165G= (p.Val389=)
11g.103125221G>TCA6252877DYNC2H1c.1783G>T (p.Val595Phe)
c.1165G>T (p.Val389Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125222T>ACA382255122DYNC2H1c.1784T>A (p.Val595Asp)
c.1166T>A (p.Val389Asp)
11g.103125222T>CCA382255123DYNC2H1c.1784T>C (p.Val595Ala)
c.1166T>C (p.Val389Ala)
11g.103125222T>GCA382255124DYNC2H1c.1784T>G (p.Val595Gly)
c.1166T>G (p.Val389Gly)
11g.103125223T>ACA476608202DYNC2H1c.1785T>A (p.Val595=)
c.1167T>A (p.Val389=)
11g.103125223T>CCA476608204DYNC2H1c.1785T>C (p.Val595=)
c.1167T>C (p.Val389=)
11g.103125223T>GCA476608208DYNC2H1c.1785T>G (p.Val595=)
c.1167T>G (p.Val389=)
11g.103125224A>CCA382255126DYNC2H1c.1786A>C (p.Ile596Leu)
c.1168A>C (p.Ile390Leu)
11g.103125224A>GCA382255127DYNC2H1c.1786A>G (p.Ile596Val)
c.1168A>G (p.Ile390Val)
11g.103125224A>TCA382255125DYNC2H1c.1786A>T (p.Ile596Phe)
c.1168A>T (p.Ile390Phe)
 gnomAD v4
11g.103125225T>ACA382255130DYNC2H1c.1787T>A (p.Ile596Asn)
c.1169T>A (p.Ile390Asn)
11g.103125225T>CCA382255128DYNC2H1c.1787T>C (p.Ile596Thr)
c.1169T>C (p.Ile390Thr)
11g.103125225T>GCA382255129DYNC2H1c.1787T>G (p.Ile596Ser)
c.1169T>G (p.Ile390Ser)
11g.103125226T>ACA476608215DYNC2H1c.1788T>A (p.Ile596=)
c.1170T>A (p.Ile390=)
11g.103125226T>CCA476608218DYNC2H1c.1788T>C (p.Ile596=)
c.1170T>C (p.Ile390=)
 dbSNP gnomAD v2
11g.103125226T>GCA382255131DYNC2H1c.1788T>G (p.Ile596Met)
c.1170T>G (p.Ile390Met)
11g.103125226T=CA1996392154DYNC2H1c.1788T= (p.Ile596=)
c.1170T= (p.Ile390=)
11g.103125227C>ACA382255132DYNC2H1c.1789C>A (p.Pro597Thr)
c.1171C>A (p.Pro391Thr)
11g.103125227C>GCA382255133DYNC2H1c.1789C>G (p.Pro597Ala)
c.1171C>G (p.Pro391Ala)
11g.103125227C>TCA382255134DYNC2H1c.1789C>T (p.Pro597Ser)
c.1171C>T (p.Pro391Ser)
11g.103125228C>ACA382255135DYNC2H1c.1790C>A (p.Pro597His)
c.1172C>A (p.Pro391His)
11g.103125228C>GCA382255136DYNC2H1c.1790C>G (p.Pro597Arg)
c.1172C>G (p.Pro391Arg)
11g.103125228C>TCA382255137DYNC2H1c.1790C>T (p.Pro597Leu)
c.1172C>T (p.Pro391Leu)
11g.103125229T>ACA476608222DYNC2H1c.1791T>A (p.Pro597=)
c.1173T>A (p.Pro391=)
11g.103125229T>CCA476608226DYNC2H1c.1791T>C (p.Pro597=)
c.1173T>C (p.Pro391=)
11g.103125229T>GCA476608223DYNC2H1c.1791T>G (p.Pro597=)
c.1173T>G (p.Pro391=)
11g.103125230G>ACA382255138DYNC2H1c.1792G>A (p.Ala598Thr)
c.1174G>A (p.Ala392Thr)
11g.103125230G>CCA382255139DYNC2H1c.1792G>C (p.Ala598Pro)
c.1174G>C (p.Ala392Pro)
11g.103125230G>TCA382255140DYNC2H1c.1792G>T (p.Ala598Ser)
c.1174G>T (p.Ala392Ser)
11g.103125231C>ACA382255143DYNC2H1c.1793C>A (p.Ala598Asp)
c.1175C>A (p.Ala392Asp)
11g.103125231C=CA1996392155DYNC2H1c.1793C= (p.Ala598=)
c.1175C= (p.Ala392=)
11g.103125231C>GCA382255141DYNC2H1c.1793C>G (p.Ala598Gly)
c.1175C>G (p.Ala392Gly)
11g.103125231C>TCA382255142DYNC2H1c.1793C>T (p.Ala598Val)
c.1175C>T (p.Ala392Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.103125232C>ACA6252878DYNC2H1c.1794C>A (p.Ala598=)
c.1176C>A (p.Ala392=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.103125232C=CA1996392156DYNC2H1c.1794C= (p.Ala598=)
c.1176C= (p.Ala392=)
11g.103125232C>GCA476608233DYNC2H1c.1794C>G (p.Ala598=)
c.1176C>G (p.Ala392=)
11g.103125232C>TCA476608232DYNC2H1c.1794C>T (p.Ala598=)
c.1176C>T (p.Ala392=)
 dbSNP gnomAD v4
11g.103125233A>CCA382255144DYNC2H1c.1795A>C (p.Lys599Gln)
c.1177A>C (p.Lys393Gln)
11g.103125233A>GCA382255145DYNC2H1c.1795A>G (p.Lys599Glu)
c.1177A>G (p.Lys393Glu)
11g.103125233A>TCA382255146DYNC2H1c.1795A>T (p.Lys599Ter)
c.1177A>T (p.Lys393Ter)
11g.103125236dupCA670954084DYNC2H1c.1798dup (p.Ile600AsnfsTer19)
c.1180dup (p.Ile394AsnfsTer19)
 dbSNP gnomAD v4
11g.103125234A>CCA382255147DYNC2H1c.1796A>C (p.Lys599Thr)
c.1178A>C (p.Lys393Thr)
11g.103125234A>GCA382255148DYNC2H1c.1796A>G (p.Lys599Arg)
c.1178A>G (p.Lys393Arg)
11g.103125234A>TCA382255149DYNC2H1c.1796A>T (p.Lys599Ile)
c.1178A>T (p.Lys393Ile)
11g.103125235A>CCA382255150DYNC2H1c.1797A>C (p.Lys599Asn)
c.1179A>C (p.Lys393Asn)
11g.103125235A>GCA476608239DYNC2H1c.1797A>G (p.Lys599=)
c.1179A>G (p.Lys393=)
11g.103125235A>TCA382255151DYNC2H1c.1797A>T (p.Lys599Asn)
c.1179A>T (p.Lys393Asn)
11g.103125236A>CCA382255152DYNC2H1c.1798A>C (p.Ile600Leu)
c.1180A>C (p.Ile394Leu)
11g.103125236A>GCA382255153DYNC2H1c.1798A>G (p.Ile600Val)
c.1180A>G (p.Ile394Val)
11g.103125236A>TCA382255154DYNC2H1c.1798A>T (p.Ile600Leu)
c.1180A>T (p.Ile394Leu)
11g.103125237T>ACA382255156DYNC2H1c.1799T>A (p.Ile600Lys)
c.1181T>A (p.Ile394Lys)
11g.103125237T>CCA382255157DYNC2H1c.1799T>C (p.Ile600Thr)
c.1181T>C (p.Ile394Thr)
 gnomAD v4
11g.103125237T>GCA382255155DYNC2H1c.1799T>G (p.Ile600Arg)
c.1181T>G (p.Ile394Arg)
11g.103125238A>CCA476608242DYNC2H1c.1800A>C (p.Ile600=)
c.1182A>C (p.Ile394=)
11g.103125238A>GCA382255158DYNC2H1c.1800A>G (p.Ile600Met)
c.1182A>G (p.Ile394Met)
11g.103125238A>TCA476608243DYNC2H1c.1800A>T (p.Ile600=)
c.1182A>T (p.Ile394=)
 dbSNP
11g.103125239C>ACA382255159DYNC2H1c.1801C>A (p.Gln601Lys)
c.1183C>A (p.Gln395Lys)
11g.103125239C>GCA382255160DYNC2H1c.1801C>G (p.Gln601Glu)
c.1183C>G (p.Gln395Glu)
11g.103125239C>TCA382255161DYNC2H1c.1801C>T (p.Gln601Ter)
c.1183C>T (p.Gln395Ter)
11g.103125240A>CCA382255162DYNC2H1c.1802A>C (p.Gln601Pro)
c.1184A>C (p.Gln395Pro)
11g.103125240A>GCA382255163DYNC2H1c.1802A>G (p.Gln601Arg)
c.1184A>G (p.Gln395Arg)
11g.103125240A>TCA382255164DYNC2H1c.1802A>T (p.Gln601Leu)
c.1184A>T (p.Gln395Leu)
11g.103125241G>ACA476608246DYNC2H1c.1803G>A (p.Gln601=)
c.1185G>A (p.Gln395=)
11g.103125241G>CCA382255165DYNC2H1c.1803G>C (p.Gln601His)
c.1185G>C (p.Gln395His)
11g.103125241G>TCA382255166DYNC2H1c.1803G>T (p.Gln601His)
c.1185G>T (p.Gln395His)
 gnomAD v4
11g.103125242C>ACA382255167DYNC2H1c.1804C>A (p.Gln602Lys)
c.1186C>A (p.Gln396Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.103125242C=CA1996392157DYNC2H1c.1804C= (p.Gln602=)
c.1186C= (p.Gln396=)
11g.103125242C>GCA382255168DYNC2H1c.1804C>G (p.Gln602Glu)
c.1186C>G (p.Gln396Glu)
11g.103125242C>TCA382255169DYNC2H1c.1804C>T (p.Gln602Ter)
c.1186C>T (p.Gln396Ter)
 dbSNP gnomAD v4
11g.103125243A>CCA382255171DYNC2H1c.1805A>C (p.Gln602Pro)
c.1187A>C (p.Gln396Pro)
11g.103125243A>GCA382255172DYNC2H1c.1805A>G (p.Gln602Arg)
c.1187A>G (p.Gln396Arg)
11g.103125243A>TCA382255170DYNC2H1c.1805A>T (p.Gln602Leu)
c.1187A>T (p.Gln396Leu)
11g.103125244A>CCA382255173DYNC2H1c.1806A>C (p.Gln602His)
c.1188A>C (p.Gln396His)
11g.103125244A>GCA476608257DYNC2H1c.1806A>G (p.Gln602=)
c.1188A>G (p.Gln396=)
11g.103125244A>TCA382255174DYNC2H1c.1806A>T (p.Gln602His)
c.1188A>T (p.Gln396His)
11g.103125245G>ACA382255175DYNC2H1c.1807G>A (p.Val603Ile)
c.1189G>A (p.Val397Ile)
11g.103125245G>CCA382255176DYNC2H1c.1807G>C (p.Val603Leu)
c.1189G>C (p.Val397Leu)
11g.103125245G>TCA382255177DYNC2H1c.1807G>T (p.Val603Phe)
c.1189G>T (p.Val397Phe)
11g.103125246T>ACA382255180DYNC2H1c.1808T>A (p.Val603Asp)
c.1190T>A (p.Val397Asp)
11g.103125246T>CCA382255179DYNC2H1c.1808T>C (p.Val603Ala)
c.1190T>C (p.Val397Ala)
 COSMIC
11g.103125246T>GCA382255178DYNC2H1c.1808T>G (p.Val603Gly)
c.1190T>G (p.Val397Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.103125246T=CA1996392158DYNC2H1c.1808T= (p.Val603=)
c.1190T= (p.Val397=)
11g.103125247T>ACA476608260DYNC2H1c.1809T>A (p.Val603=)
c.1191T>A (p.Val397=)
11g.103125247T>CCA476608261DYNC2H1c.1809T>C (p.Val603=)
c.1191T>C (p.Val397=)
11g.103125247T>GCA476608262DYNC2H1c.1809T>G (p.Val603=)
c.1191T>G (p.Val397=)
11g.103125248G>ACA382255181DYNC2H1c.1810G>A (p.Ala604Thr)
c.1192G>A (p.Ala398Thr)
11g.103125248G>CCA382255182DYNC2H1c.1810G>C (p.Ala604Pro)
c.1192G>C (p.Ala398Pro)
11g.103125248G>TCA382255183DYNC2H1c.1810G>T (p.Ala604Ser)
c.1192G>T (p.Ala398Ser)
11g.103125249C>ACA382255184DYNC2H1c.1811C>A (p.Ala604Glu)
c.1193C>A (p.Ala398Glu)
11g.103125249C>GCA382255185DYNC2H1c.1811C>G (p.Ala604Gly)
c.1193C>G (p.Ala398Gly)
11g.103125249C>TCA382255186DYNC2H1c.1811C>T (p.Ala604Val)
c.1193C>T (p.Ala398Val)
11g.103125250A>CCA476608264DYNC2H1c.1812A>C (p.Ala604=)
c.1194A>C (p.Ala398=)
11g.103125250A>GCA476608267DYNC2H1c.1812A>G (p.Ala604=)
c.1194A>G (p.Ala398=)
11g.103125250A>TCA476608265DYNC2H1c.1812A>T (p.Ala604=)
c.1194A>T (p.Ala398=)
11g.103125251A>CCA382255189DYNC2H1c.1813A>C (p.Asn605His)
c.1195A>C (p.Asn399His)
11g.103125251A>GCA382255188DYNC2H1c.1813A>G (p.Asn605Asp)
c.1195A>G (p.Asn399Asp)
11g.103125251A>TCA382255187DYNC2H1c.1813A>T (p.Asn605Tyr)
c.1195A>T (p.Asn399Tyr)
11g.103125252A>CCA382255190DYNC2H1c.1814A>C (p.Asn605Thr)
c.1196A>C (p.Asn399Thr)
11g.103125252A>GCA382255192DYNC2H1c.1814A>G (p.Asn605Ser)
c.1196A>G (p.Asn399Ser)
11g.103125252A>TCA382255191DYNC2H1c.1814A>T (p.Asn605Ile)
c.1196A>T (p.Asn399Ile)
11g.103125253C>ACA382255193DYNC2H1c.1815C>A (p.Asn605Lys)
c.1197C>A (p.Asn399Lys)
11g.103125253C=CA1996392159DYNC2H1c.1815C= (p.Asn605=)
c.1197C= (p.Asn399=)
11g.103125253C>GCA382255194DYNC2H1c.1815C>G (p.Asn605Lys)
c.1197C>G (p.Asn399Lys)
11g.103125253C>TCA6252879DYNC2H1c.1815C>T (p.Asn605=)
c.1197C>T (p.Asn399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.103125254A=CA1996392160DYNC2H1c.1816A= (p.Ile606=)
c.1198A= (p.Ile400=)
11g.103125254A>CCA382255195DYNC2H1c.1816A>C (p.Ile606Leu)
c.1198A>C (p.Ile400Leu)
11g.103125254A>GCA382255197DYNC2H1c.1816A>G (p.Ile606Val)
c.1198A>G (p.Ile400Val)
 dbSNP gnomAD v4
11g.103125254A>TCA382255196DYNC2H1c.1816A>T (p.Ile606Phe)
c.1198A>T (p.Ile400Phe)
11g.103125255T>ACA382255198DYNC2H1c.1817T>A (p.Ile606Asn)
c.1199T>A (p.Ile400Asn)
11g.103125255T>CCA382255199DYNC2H1c.1817T>C (p.Ile606Thr)
c.1199T>C (p.Ile400Thr)
 gnomAD v4
11g.103125255T>GCA382255200DYNC2H1c.1817T>G (p.Ile606Ser)
c.1199T>G (p.Ile400Ser)
 gnomAD v4
11g.103125256T>ACA476608276DYNC2H1c.1818T>A (p.Ile606=)
c.1200T>A (p.Ile400=)
11g.103125256T>CCA476608278DYNC2H1c.1818T>C (p.Ile606=)
c.1200T>C (p.Ile400=)
 gnomAD v4
11g.103125256T>GCA382255201DYNC2H1c.1818T>G (p.Ile606Met)
c.1200T>G (p.Ile400Met)
11g.103125257G>ACA382255202DYNC2H1c.1819G>A (p.Ala607Thr)
c.1201G>A (p.Ala401Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.103125257G>CCA382255203DYNC2H1c.1819G>C (p.Ala607Pro)
c.1201G>C (p.Ala401Pro)
11g.103125257G=CA1996392161DYNC2H1c.1819G= (p.Ala607=)
c.1201G= (p.Ala401=)
11g.103125257G>TCA382255204DYNC2H1c.1819G>T (p.Ala607Ser)
c.1201G>T (p.Ala401Ser)
 COSMIC
11g.103125258C>ACA382255205DYNC2H1c.1820C>A (p.Ala607Glu)
c.1202C>A (p.Ala401Glu)
11g.103125258C>GCA382255206DYNC2H1c.1820C>G (p.Ala607Gly)
c.1202C>G (p.Ala401Gly)
11g.103125258C>TCA382255207DYNC2H1c.1820C>T (p.Ala607Val)
c.1202C>T (p.Ala401Val)
11g.103125259A>CCA476608286DYNC2H1c.1821A>C (p.Ala607=)
c.1203A>C (p.Ala401=)
 gnomAD v4
11g.103125259A>GCA476608287DYNC2H1c.1821A>G (p.Ala607=)
c.1203A>G (p.Ala401=)
11g.103125259A>TCA476608289DYNC2H1c.1821A>T (p.Ala607=)
c.1203A>T (p.Ala401=)
11g.103125260C>ACA382255210DYNC2H1c.1822C>A (p.Gln608Lys)
c.1204C>A (p.Gln402Lys)
11g.103125260C>GCA382255209DYNC2H1c.1822C>G (p.Gln608Glu)
c.1204C>G (p.Gln402Glu)
11g.103125260C>TCA382255208DYNC2H1c.1822C>T (p.Gln608Ter)
c.1204C>T (p.Gln402Ter)
11g.103125261A>CCA382255211DYNC2H1c.1823A>C (p.Gln608Pro)
c.1205A>C (p.Gln402Pro)
11g.103125261A>GCA382255212DYNC2H1c.1823A>G (p.Gln608Arg)
c.1205A>G (p.Gln402Arg)
11g.103125261A>TCA382255213DYNC2H1c.1823A>T (p.Gln608Leu)
c.1205A>T (p.Gln402Leu)
11g.103125262G>ACA476608293DYNC2H1c.1824G>A (p.Gln608=)
c.1206G>A (p.Gln402=)
11g.103125262G>CCA382255214DYNC2H1c.1824G>C (p.Gln608His)
c.1206G>C (p.Gln402His)
11g.103125262G>TCA382255215DYNC2H1c.1824G>T (p.Gln608His)
c.1206G>T (p.Gln402His)
11g.103125263A>CCA382255216DYNC2H1c.1825A>C (p.Lys609Gln)
c.1207A>C (p.Lys403Gln)
11g.103125263A>GCA382255217DYNC2H1c.1825A>G (p.Lys609Glu)
c.1207A>G (p.Lys403Glu)
11g.103125263A>TCA382255218DYNC2H1c.1825A>T (p.Lys609Ter)
c.1207A>T (p.Lys403Ter)
11g.103125264A>CCA382255219DYNC2H1c.1826A>C (p.Lys609Thr)
c.1208A>C (p.Lys403Thr)
11g.103125264A>GCA382255220DYNC2H1c.1826A>G (p.Lys609Arg)
c.1208A>G (p.Lys403Arg)
11g.103125264A>TCA382255221DYNC2H1c.1826A>T (p.Lys609Ile)
c.1208A>T (p.Lys403Ile)
11g.103125265A=CA1996392162DYNC2H1c.1827A= (p.Lys609=)
c.1209A= (p.Lys403=)
11g.103125265A>CCA382255223DYNC2H1c.1827A>C (p.Lys609Asn)
c.1209A>C (p.Lys403Asn)
11g.103125265A>GCA476608304DYNC2H1c.1827A>G (p.Lys609=)
c.1209A>G (p.Lys403=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.103125265A>TCA382255222DYNC2H1c.1827A>T (p.Lys609Asn)
c.1209A>T (p.Lys403Asn)
11g.103125266T>ACA6252880DYNC2H1c.1828T>A (p.Phe610Ile)
c.1210T>A (p.Phe404Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.103125266T>CCA382255224DYNC2H1c.1828T>C (p.Phe610Leu)
c.1210T>C (p.Phe404Leu)
11g.103125266T>GCA382255225DYNC2H1c.1828T>G (p.Phe610Val)
c.1210T>G (p.Phe404Val)
11g.103125266T=CA1996392163DYNC2H1c.1828T= (p.Phe610=)
c.1210T= (p.Phe404=)
11g.103125267T>ACA382255226DYNC2H1c.1829T>A (p.Phe610Tyr)
c.1211T>A (p.Phe404Tyr)
11g.103125267T>CCA382255227DYNC2H1c.1829T>C (p.Phe610Ser)
c.1211T>C (p.Phe404Ser)
11g.103125267T>GCA382255228DYNC2H1c.1829T>G (p.Phe610Cys)
c.1211T>G (p.Phe404Cys)
11g.103125268C>ACA382255229DYNC2H1c.1830C>A (p.Phe610Leu)
c.1212C>A (p.Phe404Leu)
11g.103125268C=CA1996392164DYNC2H1c.1830C= (p.Phe610=)
c.1212C= (p.Phe404=)
11g.103125268C>GCA382255230DYNC2H1c.1830C>G (p.Phe610Leu)
c.1212C>G (p.Phe404Leu)
11g.103125268C>TCA476608317DYNC2H1c.1830C>T (p.Phe610=)
c.1212C>T (p.Phe404=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.103125269T>ACA382255231DYNC2H1c.1831T>A (p.Cys611Ser)
c.1213T>A (p.Cys405Ser)
11g.103125269T>CCA382255232DYNC2H1c.1831T>C (p.Cys611Arg)
c.1213T>C (p.Cys405Arg)
11g.103125269T>GCA382255233DYNC2H1c.1831T>G (p.Cys611Gly)
c.1213T>G (p.Cys405Gly)
 gnomAD v4
11g.103125270G>ACA382255236DYNC2H1c.1832G>A (p.Cys611Tyr)
c.1214G>A (p.Cys405Tyr)
11g.103125270G>CCA382255235DYNC2H1c.1832G>C (p.Cys611Ser)
c.1214G>C (p.Cys405Ser)
11g.103125270G=CA1996392165DYNC2H1c.1832G= (p.Cys611=)
c.1214G= (p.Cys405=)
11g.103125270G>TCA382255234DYNC2H1c.1832G>T (p.Cys611Phe)
c.1214G>T (p.Cys405Phe)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched