| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 11 | g.103125206T>A | CA382255090 | DYNC2H1 | c.1768T>A (p.Ser590Thr) c.1150T>A (p.Ser384Thr) | |
| 11 | g.103125206T>C | CA382255091 | DYNC2H1 | c.1768T>C (p.Ser590Pro) c.1150T>C (p.Ser384Pro) | COSMIC |
| 11 | g.103125206T>G | CA382255092 | DYNC2H1 | c.1768T>G (p.Ser590Ala) c.1150T>G (p.Ser384Ala) | |
| 11 | g.103125207C>A | CA382255093 | DYNC2H1 | c.1769C>A (p.Ser590Tyr) c.1151C>A (p.Ser384Tyr) | |
| 11 | g.103125207C= | CA1996392147 | DYNC2H1 | c.1769C= (p.Ser590=) c.1151C= (p.Ser384=) | |
| 11 | g.103125207C>G | CA382255094 | DYNC2H1 | c.1769C>G (p.Ser590Cys) c.1151C>G (p.Ser384Cys) | |
| 11 | g.103125207C>T | CA382255095 | DYNC2H1 | c.1769C>T (p.Ser590Phe) c.1151C>T (p.Ser384Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125208T>A | CA476608163 | DYNC2H1 | c.1770T>A (p.Ser590=) c.1152T>A (p.Ser384=) | |
| 11 | g.103125208T>C | CA476608164 | DYNC2H1 | c.1770T>C (p.Ser590=) c.1152T>C (p.Ser384=) | ClinVar gnomAD v4 |
| 11 | g.103125208T>G | CA476608166 | DYNC2H1 | c.1770T>G (p.Ser590=) c.1152T>G (p.Ser384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125208T= | CA1996392148 | DYNC2H1 | c.1770T= (p.Ser590=) c.1152T= (p.Ser384=) | |
| 11 | g.103125209G>A | CA382255096 | DYNC2H1 | c.1771G>A (p.Ala591Thr) c.1153G>A (p.Ala385Thr) | |
| 11 | g.103125209G>C | CA382255097 | DYNC2H1 | c.1771G>C (p.Ala591Pro) c.1153G>C (p.Ala385Pro) | |
| 11 | g.103125209G>T | CA382255098 | DYNC2H1 | c.1771G>T (p.Ala591Ser) c.1153G>T (p.Ala385Ser) | |
| 11 | g.103125210C>A | CA382255100 | DYNC2H1 | c.1772C>A (p.Ala591Glu) c.1154C>A (p.Ala385Glu) | |
| 11 | g.103125210C= | CA1996392149 | DYNC2H1 | c.1772C= (p.Ala591=) c.1154C= (p.Ala385=) | |
| 11 | g.103125210C>G | CA382255101 | DYNC2H1 | c.1772C>G (p.Ala591Gly) c.1154C>G (p.Ala385Gly) |