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.103165903A= | CA1996410740 | DYNC2H1 | c.4617A= (p.Leu1539=) c.*2162A= (n.*2162A=) c.2205+31484A= (n.2205+31484A=) c.3999A= (p.Leu1333=) | |
| 11 | g.103165903A>C | CA382239313 | DYNC2H1 | c.4617A>C (p.Leu1539Phe) c.*2162A>C (n.*2162A>C) c.2205+31484A>C (n.2205+31484A>C) c.3999A>C (p.Leu1333Phe) | |
| 11 | g.103165903A>G | CA227396023 | DYNC2H1 | c.4617A>G (p.Leu1539=) c.*2162A>G (n.*2162A>G) c.2205+31484A>G (n.2205+31484A>G) c.3999A>G (p.Leu1333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165903A>T | CA382239312 | DYNC2H1 | c.4617A>T (p.Leu1539Phe) c.*2162A>T (n.*2162A>T) c.2205+31484A>T (n.2205+31484A>T) c.3999A>T (p.Leu1333Phe) | |
| 11 | g.103165904T>A | CA382239316 | DYNC2H1 | c.4618T>A (p.Cys1540Ser) c.*2163T>A (n.*2163T>A) c.2205+31485T>A (n.2205+31485T>A) c.4000T>A (p.Cys1334Ser) | gnomAD v4 |
| 11 | g.103165904T>C | CA382239314 | DYNC2H1 | c.4618T>C (p.Cys1540Arg) c.*2163T>C (n.*2163T>C) c.2205+31485T>C (n.2205+31485T>C) c.4000T>C (p.Cys1334Arg) | gnomAD v4 |
| 11 | g.103165904T>G | CA382239315 | DYNC2H1 | c.4618T>G (p.Cys1540Gly) c.*2163T>G (n.*2163T>G) c.2205+31485T>G (n.2205+31485T>G) c.4000T>G (p.Cys1334Gly) | |
| 11 | g.103165905G>A | CA227396026 | DYNC2H1 | c.4619G>A (p.Cys1540Tyr) c.*2164G>A (n.*2164G>A) c.2205+31486G>A (n.2205+31486G>A) c.4001G>A (p.Cys1334Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165905G>C | CA382239317 | DYNC2H1 | c.4619G>C (p.Cys1540Ser) c.*2164G>C (n.*2164G>C) c.2205+31486G>C (n.2205+31486G>C) c.4001G>C (p.Cys1334Ser) | |
| 11 | g.103165905G= | CA1996410741 | DYNC2H1 | c.4619G= (p.Cys1540=) c.*2164G= (n.*2164G=) c.2205+31486G= (n.2205+31486G=) c.4001G= (p.Cys1334=) | |
| 11 | g.103165905G>T | CA382239318 | DYNC2H1 | c.4619G>T (p.Cys1540Phe) c.*2164G>T (n.*2164G>T) c.2205+31486G>T (n.2205+31486G>T) c.4001G>T (p.Cys1334Phe) | gnomAD v4 |
| 11 | g.103165906C>A | CA382239319 | DYNC2H1 | c.4620C>A (p.Cys1540Ter) c.*2165C>A (n.*2165C>A) c.2205+31487C>A (n.2205+31487C>A) c.4002C>A (p.Cys1334Ter) | gnomAD v4 |
| 11 | g.103165906C>G | CA382239320 | DYNC2H1 | c.4620C>G (p.Cys1540Trp) c.*2165C>G (n.*2165C>G) c.2205+31487C>G (n.2205+31487C>G) c.4002C>G (p.Cys1334Trp) | |
| 11 | g.103165906C>T | CA476600353 | DYNC2H1 | c.4620C>T (p.Cys1540=) c.*2165C>T (n.*2165C>T) c.2205+31487C>T (n.2205+31487C>T) c.4002C>T (p.Cys1334=) | gnomAD v4 |
| 11 | g.103165907T>A | CA382239321 | DYNC2H1 | c.4621T>A (p.Leu1541Met) c.*2166T>A (n.*2166T>A) c.2205+31488T>A (n.2205+31488T>A) c.4003T>A (p.Leu1335Met) | |
| 11 | g.103165907T>C | CA476600357 | DYNC2H1 | c.4621T>C (p.Leu1541=) c.*2166T>C (n.*2166T>C) c.2205+31488T>C (n.2205+31488T>C) c.4003T>C (p.Leu1335=) | gnomAD v4 |
| 11 | g.103165907T>G | CA382239322 | DYNC2H1 | c.4621T>G (p.Leu1541Val) c.*2166T>G (n.*2166T>G) c.2205+31488T>G (n.2205+31488T>G) c.4003T>G (p.Leu1335Val) | |
| 11 | g.103165908del | CA2615743808 | DYNC2H1 | c.4622del (p.Leu1541TrpfsTer11) c.*2167del (n.*2167del) c.2205+31489del (n.2205+31489del) c.4004del (p.Leu1335TrpfsTer11) | gnomAD v4 |
| 11 | g.103165908T>A | CA382239323 | DYNC2H1 | c.4622T>A (p.Leu1541Ter) c.*2167T>A (n.*2167T>A) c.2205+31489T>A (n.2205+31489T>A) c.4004T>A (p.Leu1335Ter) | |
| 11 | g.103165908T>C | CA382239324 | DYNC2H1 | c.4622T>C (p.Leu1541Ser) c.*2167T>C (n.*2167T>C) c.2205+31489T>C (n.2205+31489T>C) c.4004T>C (p.Leu1335Ser) | gnomAD v4 |
| 11 | g.103165908T>G | CA382239325 | DYNC2H1 | c.4622T>G (p.Leu1541Trp) c.*2167T>G (n.*2167T>G) c.2205+31489T>G (n.2205+31489T>G) c.4004T>G (p.Leu1335Trp) | |
| 11 | g.103165909G>A | CA476600366 | DYNC2H1 | c.4623G>A (p.Leu1541=) c.*2168G>A (n.*2168G>A) c.2205+31490G>A (n.2205+31490G>A) c.4005G>A (p.Leu1335=) | gnomAD v4 |
| 11 | g.103165909G>C | CA382239326 | DYNC2H1 | c.4623G>C (p.Leu1541Phe) c.*2168G>C (n.*2168G>C) c.2205+31490G>C (n.2205+31490G>C) c.4005G>C (p.Leu1335Phe) | |
| 11 | g.103165909G>T | CA382239327 | DYNC2H1 | c.4623G>T (p.Leu1541Phe) c.*2168G>T (n.*2168G>T) c.2205+31490G>T (n.2205+31490G>T) c.4005G>T (p.Leu1335Phe) | dbSNP gnomAD v4 |
| 11 | g.103165911_103165913del | CA2739270851 | DYNC2H1 | c.4625_4627del (p.Ala1542del) c.*2170_*2172del (n.*2170_*2172del) c.2205+31492_2205+31494del (n.2205+31492_2205+31494del) c.4007_4009del (p.Ala1336del) | ClinVar |
| 11 | g.103165910G>A | CA382239330 | DYNC2H1 | c.4624G>A (p.Ala1542Thr) c.*2169G>A (n.*2169G>A) c.2205+31491G>A (n.2205+31491G>A) c.4006G>A (p.Ala1336Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165910G>C | CA382239328 | DYNC2H1 | c.4624G>C (p.Ala1542Pro) c.*2169G>C (n.*2169G>C) c.2205+31491G>C (n.2205+31491G>C) c.4006G>C (p.Ala1336Pro) | |
| 11 | g.103165910G= | CA1996410742 | DYNC2H1 | c.4624G= (p.Ala1542=) c.*2169G= (n.*2169G=) c.2205+31491G= (n.2205+31491G=) c.4006G= (p.Ala1336=) | |
| 11 | g.103165910G>T | CA382239329 | DYNC2H1 | c.4624G>T (p.Ala1542Ser) c.*2169G>T (n.*2169G>T) c.2205+31491G>T (n.2205+31491G>T) c.4006G>T (p.Ala1336Ser) | gnomAD v4 |
| 11 | g.103165911C>A | CA382239331 | DYNC2H1 | c.4625C>A (p.Ala1542Glu) c.*2170C>A (n.*2170C>A) c.2205+31492C>A (n.2205+31492C>A) c.4007C>A (p.Ala1336Glu) | gnomAD v4 |
| 11 | g.103165911C= | CA1996410743 | DYNC2H1 | c.4625C= (p.Ala1542=) c.*2170C= (n.*2170C=) c.2205+31492C= (n.2205+31492C=) c.4007C= (p.Ala1336=) | |
| 11 | g.103165911C>G | CA382239332 | DYNC2H1 | c.4625C>G (p.Ala1542Gly) c.*2170C>G (n.*2170C>G) c.2205+31492C>G (n.2205+31492C>G) c.4007C>G (p.Ala1336Gly) | |
| 11 | g.103165911C>T | CA16042810 | DYNC2H1 | c.4625C>T (p.Ala1542Val) c.*2170C>T (n.*2170C>T) c.2205+31492C>T (n.2205+31492C>T) c.4007C>T (p.Ala1336Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165912G>A | CA227396041 | DYNC2H1 | c.4626G>A (p.Ala1542=) c.*2171G>A (n.*2171G>A) c.2205+31493G>A (n.2205+31493G>A) c.4008G>A (p.Ala1336=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165912G>C | CA476600387 | DYNC2H1 | c.4626G>C (p.Ala1542=) c.*2171G>C (n.*2171G>C) c.2205+31493G>C (n.2205+31493G>C) c.4008G>C (p.Ala1336=) | gnomAD v4 |
| 11 | g.103165912G= | CA1996410744 | DYNC2H1 | c.4626G= (p.Ala1542=) c.*2171G= (n.*2171G=) c.2205+31493G= (n.2205+31493G=) c.4008G= (p.Ala1336=) | |
| 11 | g.103165912G>T | CA476600385 | DYNC2H1 | c.4626G>T (p.Ala1542=) c.*2171G>T (n.*2171G>T) c.2205+31493G>T (n.2205+31493G>T) c.4008G>T (p.Ala1336=) | gnomAD v4 |
| 11 | g.103165913G>A | CA382239333 | DYNC2H1 | c.4627G>A (p.Glu1543Lys) c.*2172G>A (n.*2172G>A) c.2205+31494G>A (n.2205+31494G>A) c.4009G>A (p.Glu1337Lys) | gnomAD v4 |
| 11 | g.103165913G>C | CA382239334 | DYNC2H1 | c.4627G>C (p.Glu1543Gln) c.*2172G>C (n.*2172G>C) c.2205+31494G>C (n.2205+31494G>C) c.4009G>C (p.Glu1337Gln) | gnomAD v4 |
| 11 | g.103165913G>T | CA382239335 | DYNC2H1 | c.4627G>T (p.Glu1543Ter) c.*2172G>T (n.*2172G>T) c.2205+31494G>T (n.2205+31494G>T) c.4009G>T (p.Glu1337Ter) | gnomAD v4 |
| 11 | g.103165914A>C | CA382239336 | DYNC2H1 | c.4628A>C (p.Glu1543Ala) c.*2173A>C (n.*2173A>C) c.2205+31495A>C (n.2205+31495A>C) c.4010A>C (p.Glu1337Ala) | |
| 11 | g.103165914A>G | CA382239337 | DYNC2H1 | c.4628A>G (p.Glu1543Gly) c.*2173A>G (n.*2173A>G) c.2205+31495A>G (n.2205+31495A>G) c.4010A>G (p.Glu1337Gly) | gnomAD v4 |
| 11 | g.103165914A>T | CA382239338 | DYNC2H1 | c.4628A>T (p.Glu1543Val) c.*2173A>T (n.*2173A>T) c.2205+31495A>T (n.2205+31495A>T) c.4010A>T (p.Glu1337Val) | gnomAD v4 |
| 11 | g.103165915G>A | CA6253612 | DYNC2H1 | c.4629G>A (p.Glu1543=) c.*2174G>A (n.*2174G>A) c.2205+31496G>A (n.2205+31496G>A) c.4011G>A (p.Glu1337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165915G>C | CA382239339 | DYNC2H1 | c.4629G>C (p.Glu1543Asp) c.*2174G>C (n.*2174G>C) c.2205+31496G>C (n.2205+31496G>C) c.4011G>C (p.Glu1337Asp) | gnomAD v4 |
| 11 | g.103165915G= | CA1996410745 | DYNC2H1 | c.4629G= (p.Glu1543=) c.*2174G= (n.*2174G=) c.2205+31496G= (n.2205+31496G=) c.4011G= (p.Glu1337=) | |
| 11 | g.103165915G>T | CA382239340 | DYNC2H1 | c.4629G>T (p.Glu1543Asp) c.*2174G>T (n.*2174G>T) c.2205+31496G>T (n.2205+31496G>T) c.4011G>T (p.Glu1337Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165916C>A | CA382239343 | DYNC2H1 | c.4630C>A (p.Gln1544Lys) c.*2175C>A (n.*2175C>A) c.2205+31497C>A (n.2205+31497C>A) c.4012C>A (p.Gln1338Lys) | gnomAD v4 |
| 11 | g.103165916C>G | CA382239341 | DYNC2H1 | c.4630C>G (p.Gln1544Glu) c.*2175C>G (n.*2175C>G) c.2205+31497C>G (n.2205+31497C>G) c.4012C>G (p.Gln1338Glu) | |
| 11 | g.103165916C>T | CA382239342 | DYNC2H1 | c.4630C>T (p.Gln1544Ter) c.*2175C>T (n.*2175C>T) c.2205+31497C>T (n.2205+31497C>T) c.4012C>T (p.Gln1338Ter) | gnomAD v4 |
| 11 | g.103165917A>C | CA382239344 | DYNC2H1 | c.4631A>C (p.Gln1544Pro) c.*2176A>C (n.*2176A>C) c.2205+31498A>C (n.2205+31498A>C) c.4013A>C (p.Gln1338Pro) | |
| 11 | g.103165917A>G | CA382239345 | DYNC2H1 | c.4631A>G (p.Gln1544Arg) c.*2176A>G (n.*2176A>G) c.2205+31498A>G (n.2205+31498A>G) c.4013A>G (p.Gln1338Arg) | gnomAD v4 |
| 11 | g.103165917A>T | CA382239346 | DYNC2H1 | c.4631A>T (p.Gln1544Leu) c.*2176A>T (n.*2176A>T) c.2205+31498A>T (n.2205+31498A>T) c.4013A>T (p.Gln1338Leu) | gnomAD v4 |
| 11 | g.103165918G>A | CA476600417 | DYNC2H1 | c.4632G>A (p.Gln1544=) c.*2177G>A (n.*2177G>A) c.2205+31499G>A (n.2205+31499G>A) c.4014G>A (p.Gln1338=) | gnomAD v4 |
| 11 | g.103165918G>C | CA382239347 | DYNC2H1 | c.4632G>C (p.Gln1544His) c.*2177G>C (n.*2177G>C) c.2205+31499G>C (n.2205+31499G>C) c.4014G>C (p.Gln1338His) | |
| 11 | g.103165918G>T | CA382239348 | DYNC2H1 | c.4632G>T (p.Gln1544His) c.*2177G>T (n.*2177G>T) c.2205+31499G>T (n.2205+31499G>T) c.4014G>T (p.Gln1338His) | gnomAD v4 |
| 11 | g.103165919A= | CA1996410746 | DYNC2H1 | c.4633A= (p.Ile1545=) c.*2178A= (n.*2178A=) c.2205+31500A= (n.2205+31500A=) c.4015A= (p.Ile1339=) | |
| 11 | g.103165919A>C | CA382239349 | DYNC2H1 | c.4633A>C (p.Ile1545Leu) c.*2178A>C (n.*2178A>C) c.2205+31500A>C (n.2205+31500A>C) c.4015A>C (p.Ile1339Leu) | gnomAD v4 |
| 11 | g.103165919A>G | CA227396042 | DYNC2H1 | c.4633A>G (p.Ile1545Val) c.*2178A>G (n.*2178A>G) c.2205+31500A>G (n.2205+31500A>G) c.4015A>G (p.Ile1339Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165919A>T | CA382239350 | DYNC2H1 | c.4633A>T (p.Ile1545Phe) c.*2178A>T (n.*2178A>T) c.2205+31500A>T (n.2205+31500A>T) c.4015A>T (p.Ile1339Phe) | gnomAD v4 |
| 11 | g.103165920T>A | CA382239351 | DYNC2H1 | c.4634T>A (p.Ile1545Asn) c.*2179T>A (n.*2179T>A) c.2205+31501T>A (n.2205+31501T>A) c.4016T>A (p.Ile1339Asn) | gnomAD v4 |
| 11 | g.103165920T>C | CA382239353 | DYNC2H1 | c.4634T>C (p.Ile1545Thr) c.*2179T>C (n.*2179T>C) c.2205+31501T>C (n.2205+31501T>C) c.4016T>C (p.Ile1339Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165920T>G | CA382239352 | DYNC2H1 | c.4634T>G (p.Ile1545Ser) c.*2179T>G (n.*2179T>G) c.2205+31501T>G (n.2205+31501T>G) c.4016T>G (p.Ile1339Ser) | |
| 11 | g.103165920T= | CA1996410747 | DYNC2H1 | c.4634T= (p.Ile1545=) c.*2179T= (n.*2179T=) c.2205+31501T= (n.2205+31501T=) c.4016T= (p.Ile1339=) | |
| 11 | g.103165921del | CA2793430029 | DYNC2H1 | c.4635del (p.Lys1546AsnfsTer6) c.*2180del (n.*2180del) c.2205+31502del (n.2205+31502del) c.4017del (p.Lys1340AsnfsTer6) | |
| 11 | g.103165921T>A | CA476600435 | DYNC2H1 | c.4635T>A (p.Ile1545=) c.*2180T>A (n.*2180T>A) c.2205+31502T>A (n.2205+31502T>A) c.4017T>A (p.Ile1339=) | gnomAD v4 |
| 11 | g.103165921T>C | CA476600438 | DYNC2H1 | c.4635T>C (p.Ile1545=) c.*2180T>C (n.*2180T>C) c.2205+31502T>C (n.2205+31502T>C) c.4017T>C (p.Ile1339=) | gnomAD v4 |
| 11 | g.103165921T>G | CA382239354 | DYNC2H1 | c.4635T>G (p.Ile1545Met) c.*2180T>G (n.*2180T>G) c.2205+31502T>G (n.2205+31502T>G) c.4017T>G (p.Ile1339Met) | |
| 11 | g.103165922A>C | CA382239355 | DYNC2H1 | c.4636A>C (p.Lys1546Gln) c.*2181A>C (n.*2181A>C) c.2205+31503A>C (n.2205+31503A>C) c.4018A>C (p.Lys1340Gln) | |
| 11 | g.103165922A>G | CA382239356 | DYNC2H1 | c.4636A>G (p.Lys1546Glu) c.*2181A>G (n.*2181A>G) c.2205+31503A>G (n.2205+31503A>G) c.4018A>G (p.Lys1340Glu) | gnomAD v4 |
| 11 | g.103165922A>T | CA382239357 | DYNC2H1 | c.4636A>T (p.Lys1546Ter) c.*2181A>T (n.*2181A>T) c.2205+31503A>T (n.2205+31503A>T) c.4018A>T (p.Lys1340Ter) | |
| 11 | g.103165923A>C | CA382239358 | DYNC2H1 | c.4637A>C (p.Lys1546Thr) c.*2182A>C (n.*2182A>C) c.2205+31504A>C (n.2205+31504A>C) c.4019A>C (p.Lys1340Thr) | |
| 11 | g.103165923A>G | CA382239360 | DYNC2H1 | c.4637A>G (p.Lys1546Arg) c.*2182A>G (n.*2182A>G) c.2205+31504A>G (n.2205+31504A>G) c.4019A>G (p.Lys1340Arg) | gnomAD v4 |
| 11 | g.103165923A>T | CA382239359 | DYNC2H1 | c.4637A>T (p.Lys1546Ile) c.*2182A>T (n.*2182A>T) c.2205+31504A>T (n.2205+31504A>T) c.4019A>T (p.Lys1340Ile) | |
| 11 | g.103165924A= | CA1996410748 | DYNC2H1 | c.4638A= (p.Lys1546=) c.*2183A= (n.*2183A=) c.2205+31505A= (n.2205+31505A=) c.4020A= (p.Lys1340=) | |
| 11 | g.103165924A>C | CA382239361 | DYNC2H1 | c.4638A>C (p.Lys1546Asn) c.*2183A>C (n.*2183A>C) c.2205+31505A>C (n.2205+31505A>C) c.4020A>C (p.Lys1340Asn) | |
| 11 | g.103165924A>G | CA476600459 | DYNC2H1 | c.4638A>G (p.Lys1546=) c.*2183A>G (n.*2183A>G) c.2205+31505A>G (n.2205+31505A>G) c.4020A>G (p.Lys1340=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165924A>T | CA382239362 | DYNC2H1 | c.4638A>T (p.Lys1546Asn) c.*2183A>T (n.*2183A>T) c.2205+31505A>T (n.2205+31505A>T) c.4020A>T (p.Lys1340Asn) | |
| 11 | g.103165925T>A | CA382239363 | DYNC2H1 | c.4639T>A (p.Phe1547Ile) c.*2184T>A (n.*2184T>A) c.2205+31506T>A (n.2205+31506T>A) c.4021T>A (p.Phe1341Ile) | gnomAD v4 |
| 11 | g.103165925T>C | CA382239364 | DYNC2H1 | c.4639T>C (p.Phe1547Leu) c.*2184T>C (n.*2184T>C) c.2205+31506T>C (n.2205+31506T>C) c.4021T>C (p.Phe1341Leu) | gnomAD v4 |
| 11 | g.103165925T>G | CA382239365 | DYNC2H1 | c.4639T>G (p.Phe1547Val) c.*2184T>G (n.*2184T>G) c.2205+31506T>G (n.2205+31506T>G) c.4021T>G (p.Phe1341Val) | |
| 11 | g.103165926T>A | CA382239366 | DYNC2H1 | c.4640T>A (p.Phe1547Tyr) c.*2185T>A (n.*2185T>A) c.2205+31507T>A (n.2205+31507T>A) c.4022T>A (p.Phe1341Tyr) | gnomAD v4 |
| 11 | g.103165926T>C | CA382239367 | DYNC2H1 | c.4640T>C (p.Phe1547Ser) c.*2185T>C (n.*2185T>C) c.2205+31507T>C (n.2205+31507T>C) c.4022T>C (p.Phe1341Ser) | gnomAD v4 |
| 11 | g.103165926T>G | CA382239368 | DYNC2H1 | c.4640T>G (p.Phe1547Cys) c.*2185T>G (n.*2185T>G) c.2205+31507T>G (n.2205+31507T>G) c.4022T>G (p.Phe1341Cys) | gnomAD v4 |
| 11 | g.103165927C>A | CA382239369 | DYNC2H1 | c.4641C>A (p.Phe1547Leu) c.*2186C>A (n.*2186C>A) c.2205+31508C>A (n.2205+31508C>A) c.4023C>A (p.Phe1341Leu) | gnomAD v4 |
| 11 | g.103165927C= | CA1996410749 | DYNC2H1 | c.4641C= (p.Phe1547=) c.*2186C= (n.*2186C=) c.2205+31508C= (n.2205+31508C=) c.4023C= (p.Phe1341=) | |
| 11 | g.103165927C>G | CA382239370 | DYNC2H1 | c.4641C>G (p.Phe1547Leu) c.*2186C>G (n.*2186C>G) c.2205+31508C>G (n.2205+31508C>G) c.4023C>G (p.Phe1341Leu) | gnomAD v4 |
| 11 | g.103165927C>T | CA6253613 | DYNC2H1 | c.4641C>T (p.Phe1547=) c.*2186C>T (n.*2186C>T) c.2205+31508C>T (n.2205+31508C>T) c.4023C>T (p.Phe1341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103165928A= | CA1996410750 | DYNC2H1 | c.4642A= (p.Thr1548=) c.*2187A= (n.*2187A=) c.2205+31509A= (n.2205+31509A=) c.4024A= (p.Thr1342=) | |
| 11 | g.103165928A>C | CA382239371 | DYNC2H1 | c.4642A>C (p.Thr1548Pro) c.*2187A>C (n.*2187A>C) c.2205+31509A>C (n.2205+31509A>C) c.4024A>C (p.Thr1342Pro) | |
| 11 | g.103165928A>G | CA382239373 | DYNC2H1 | c.4642A>G (p.Thr1548Ala) c.*2187A>G (n.*2187A>G) c.2205+31509A>G (n.2205+31509A>G) c.4024A>G (p.Thr1342Ala) | dbSNP gnomAD v4 |
| 11 | g.103165928A>T | CA382239372 | DYNC2H1 | c.4642A>T (p.Thr1548Ser) c.*2187A>T (n.*2187A>T) c.2205+31509A>T (n.2205+31509A>T) c.4024A>T (p.Thr1342Ser) | |
| 11 | g.103165929C>A | CA382239374 | DYNC2H1 | c.4643C>A (p.Thr1548Asn) c.*2188C>A (n.*2188C>A) c.2205+31510C>A (n.2205+31510C>A) c.4025C>A (p.Thr1342Asn) | gnomAD v4 |
| 11 | g.103165929C>G | CA382239376 | DYNC2H1 | c.4643C>G (p.Thr1548Ser) c.*2188C>G (n.*2188C>G) c.2205+31510C>G (n.2205+31510C>G) c.4025C>G (p.Thr1342Ser) | gnomAD v4 |
| 11 | g.103165929C>T | CA382239375 | DYNC2H1 | c.4643C>T (p.Thr1548Ile) c.*2188C>T (n.*2188C>T) c.2205+31510C>T (n.2205+31510C>T) c.4025C>T (p.Thr1342Ile) | gnomAD v4 |
| 11 | g.103165930T>A | CA476600494 | DYNC2H1 | c.4644T>A (p.Thr1548=) c.*2189T>A (n.*2189T>A) c.2205+31511T>A (n.2205+31511T>A) c.4026T>A (p.Thr1342=) | |
| 11 | g.103165930T>C | CA476600497 | DYNC2H1 | c.4644T>C (p.Thr1548=) c.*2189T>C (n.*2189T>C) c.2205+31511T>C (n.2205+31511T>C) c.4026T>C (p.Thr1342=) | gnomAD v4 |
| 11 | g.103165930T>G | CA476600495 | DYNC2H1 | c.4644T>G (p.Thr1548=) c.*2189T>G (n.*2189T>G) c.2205+31511T>G (n.2205+31511T>G) c.4026T>G (p.Thr1342=) | |
| 11 | g.103165931G>A | CA382239377 | DYNC2H1 | c.4645G>A (p.Glu1549Lys) c.*2190G>A (n.*2190G>A) c.2205+31512G>A (n.2205+31512G>A) c.4027G>A (p.Glu1343Lys) | gnomAD v4 |
| 11 | g.103165931G>C | CA382239378 | DYNC2H1 | c.4645G>C (p.Glu1549Gln) c.*2190G>C (n.*2190G>C) c.2205+31512G>C (n.2205+31512G>C) c.4027G>C (p.Glu1343Gln) | |
| 11 | g.103165931G>T | CA382239379 | DYNC2H1 | c.4645G>T (p.Glu1549Ter) c.*2190G>T (n.*2190G>T) c.2205+31512G>T (n.2205+31512G>T) c.4027G>T (p.Glu1343Ter) | gnomAD v4 |
| 11 | g.103165932A>C | CA382239380 | DYNC2H1 | c.4646A>C (p.Glu1549Ala) c.*2191A>C (n.*2191A>C) c.2205+31513A>C (n.2205+31513A>C) c.4028A>C (p.Glu1343Ala) | |
| 11 | g.103165932A>G | CA382239381 | DYNC2H1 | c.4646A>G (p.Glu1549Gly) c.*2191A>G (n.*2191A>G) c.2205+31513A>G (n.2205+31513A>G) c.4028A>G (p.Glu1343Gly) | gnomAD v4 |
| 11 | g.103165932A>T | CA382239382 | DYNC2H1 | c.4646A>T (p.Glu1549Val) c.*2191A>T (n.*2191A>T) c.2205+31513A>T (n.2205+31513A>T) c.4028A>T (p.Glu1343Val) | gnomAD v4 |
| 11 | g.103165933A>C | CA382239383 | DYNC2H1 | c.4647A>C (p.Glu1549Asp) c.*2192A>C (n.*2192A>C) c.2205+31514A>C (n.2205+31514A>C) c.4029A>C (p.Glu1343Asp) | |
| 11 | g.103165933A>G | CA476600513 | DYNC2H1 | c.4647A>G (p.Glu1549=) c.*2192A>G (n.*2192A>G) c.2205+31514A>G (n.2205+31514A>G) c.4029A>G (p.Glu1343=) | gnomAD v4 |
| 11 | g.103165933A>T | CA382239384 | DYNC2H1 | c.4647A>T (p.Glu1549Asp) c.*2192A>T (n.*2192A>T) c.2205+31514A>T (n.2205+31514A>T) c.4029A>T (p.Glu1343Asp) | gnomAD v4 |
| 11 | g.103165934G>A | CA6253614 | DYNC2H1 | c.4648G>A (p.Asp1550Asn) c.*2193G>A (n.*2193G>A) c.2205+31515G>A (n.2205+31515G>A) c.4030G>A (p.Asp1344Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165934G>C | CA382239385 | DYNC2H1 | c.4648G>C (p.Asp1550His) c.*2193G>C (n.*2193G>C) c.2205+31515G>C (n.2205+31515G>C) c.4030G>C (p.Asp1344His) | gnomAD v4 |
| 11 | g.103165934G= | CA1996410751 | DYNC2H1 | c.4648G= (p.Asp1550=) c.*2193G= (n.*2193G=) c.2205+31515G= (n.2205+31515G=) c.4030G= (p.Asp1344=) | |
| 11 | g.103165934G>T | CA382239386 | DYNC2H1 | c.4648G>T (p.Asp1550Tyr) c.*2193G>T (n.*2193G>T) c.2205+31515G>T (n.2205+31515G>T) c.4030G>T (p.Asp1344Tyr) | gnomAD v4 |
| 11 | g.103165935A= | CA1996410752 | DYNC2H1 | c.4649A= (p.Asp1550=) c.*2194A= (n.*2194A=) c.2205+31516A= (n.2205+31516A=) c.4031A= (p.Asp1344=) | |
| 11 | g.103165935A>C | CA382239388 | DYNC2H1 | c.4649A>C (p.Asp1550Ala) c.*2194A>C (n.*2194A>C) c.2205+31516A>C (n.2205+31516A>C) c.4031A>C (p.Asp1344Ala) | |
| 11 | g.103165935A>G | CA227396052 | DYNC2H1 | c.4649A>G (p.Asp1550Gly) c.*2194A>G (n.*2194A>G) c.2205+31516A>G (n.2205+31516A>G) c.4031A>G (p.Asp1344Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165935A>T | CA382239387 | DYNC2H1 | c.4649A>T (p.Asp1550Val) c.*2194A>T (n.*2194A>T) c.2205+31516A>T (n.2205+31516A>T) c.4031A>T (p.Asp1344Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165936T>A | CA382239389 | DYNC2H1 | c.4650T>A (p.Asp1550Glu) c.*2195T>A (n.*2195T>A) c.2205+31517T>A (n.2205+31517T>A) c.4032T>A (p.Asp1344Glu) | |
| 11 | g.103165936T>C | CA476600534 | DYNC2H1 | c.4650T>C (p.Asp1550=) c.*2195T>C (n.*2195T>C) c.2205+31517T>C (n.2205+31517T>C) c.4032T>C (p.Asp1344=) | gnomAD v4 |
| 11 | g.103165936T>G | CA382239390 | DYNC2H1 | c.4650T>G (p.Asp1550Glu) c.*2195T>G (n.*2195T>G) c.2205+31517T>G (n.2205+31517T>G) c.4032T>G (p.Asp1344Glu) | |
| 11 | g.103165937G>A | CA382239391 | DYNC2H1 | c.4651G>A (p.Val1551Ile) c.*2196G>A (n.*2196G>A) c.2205+31518G>A (n.2205+31518G>A) c.4033G>A (p.Val1345Ile) | dbSNP gnomAD v4 |
| 11 | g.103165937G>C | CA382239392 | DYNC2H1 | c.4651G>C (p.Val1551Leu) c.*2196G>C (n.*2196G>C) c.2205+31518G>C (n.2205+31518G>C) c.4033G>C (p.Val1345Leu) | |
| 11 | g.103165937G= | CA1996410753 | DYNC2H1 | c.4651G= (p.Val1551=) c.*2196G= (n.*2196G=) c.2205+31518G= (n.2205+31518G=) c.4033G= (p.Val1345=) | |
| 11 | g.103165937G>T | CA382239393 | DYNC2H1 | c.4651G>T (p.Val1551Leu) c.*2196G>T (n.*2196G>T) c.2205+31518G>T (n.2205+31518G>T) c.4033G>T (p.Val1345Leu) | gnomAD v4 |
| 11 | g.103165938T>A | CA382239394 | DYNC2H1 | c.4652T>A (p.Val1551Glu) c.*2197T>A (n.*2197T>A) c.2205+31519T>A (n.2205+31519T>A) c.4034T>A (p.Val1345Glu) | gnomAD v4 |
| 11 | g.103165938T>C | CA382239395 | DYNC2H1 | c.4652T>C (p.Val1551Ala) c.*2197T>C (n.*2197T>C) c.2205+31519T>C (n.2205+31519T>C) c.4034T>C (p.Val1345Ala) | gnomAD v4 |
| 11 | g.103165938T>G | CA382239396 | DYNC2H1 | c.4652T>G (p.Val1551Gly) c.*2197T>G (n.*2197T>G) c.2205+31519T>G (n.2205+31519T>G) c.4034T>G (p.Val1345Gly) | |
| 11 | g.103165939A>C | CA476600554 | DYNC2H1 | c.4653A>C (p.Val1551=) c.*2198A>C (n.*2198A>C) c.2205+31520A>C (n.2205+31520A>C) c.4035A>C (p.Val1345=) | |
| 11 | g.103165939A>G | CA476600549 | DYNC2H1 | c.4653A>G (p.Val1551=) c.*2198A>G (n.*2198A>G) c.2205+31520A>G (n.2205+31520A>G) c.4035A>G (p.Val1345=) | gnomAD v4 |
| 11 | g.103165939A>T | CA476600552 | DYNC2H1 | c.4653A>T (p.Val1551=) c.*2198A>T (n.*2198A>T) c.2205+31520A>T (n.2205+31520A>T) c.4035A>T (p.Val1345=) | gnomAD v4 |
| 11 | g.103165940G>A | CA382239397 | DYNC2H1 | c.4654G>A (p.Glu1552Lys) c.*2199G>A (n.*2199G>A) c.2205+31521G>A (n.2205+31521G>A) c.4036G>A (p.Glu1346Lys) | gnomAD v4 |
| 11 | g.103165940G>C | CA382239398 | DYNC2H1 | c.4654G>C (p.Glu1552Gln) c.*2199G>C (n.*2199G>C) c.2205+31521G>C (n.2205+31521G>C) c.4036G>C (p.Glu1346Gln) | |
| 11 | g.103165940G>T | CA382239399 | DYNC2H1 | c.4654G>T (p.Glu1552Ter) c.*2199G>T (n.*2199G>T) c.2205+31521G>T (n.2205+31521G>T) c.4036G>T (p.Glu1346Ter) | gnomAD v4 |
| 11 | g.103165941A>C | CA382239401 | DYNC2H1 | c.4655A>C (p.Glu1552Ala) c.*2200A>C (n.*2200A>C) c.2205+31522A>C (n.2205+31522A>C) c.4037A>C (p.Glu1346Ala) | |
| 11 | g.103165941A>G | CA382239402 | DYNC2H1 | c.4655A>G (p.Glu1552Gly) c.*2200A>G (n.*2200A>G) c.2205+31522A>G (n.2205+31522A>G) c.4037A>G (p.Glu1346Gly) | gnomAD v4 |
| 11 | g.103165941A>T | CA382239400 | DYNC2H1 | c.4655A>T (p.Glu1552Val) c.*2200A>T (n.*2200A>T) c.2205+31522A>T (n.2205+31522A>T) c.4037A>T (p.Glu1346Val) | |
| 11 | g.103165944del | CA2615743809 | DYNC2H1 | c.4658del (p.Asn1553MetfsTer16) c.*2203del (n.*2203del) c.2205+31525del (n.2205+31525del) c.4040del (p.Asn1347MetfsTer16) | gnomAD v4 |
| 11 | g.103165942A>C | CA382239403 | DYNC2H1 | c.4656A>C (p.Glu1552Asp) c.*2201A>C (n.*2201A>C) c.2205+31523A>C (n.2205+31523A>C) c.4038A>C (p.Glu1346Asp) | |
| 11 | g.103165942A>G | CA476600571 | DYNC2H1 | c.4656A>G (p.Glu1552=) c.*2201A>G (n.*2201A>G) c.2205+31523A>G (n.2205+31523A>G) c.4038A>G (p.Glu1346=) | gnomAD v4 |
| 11 | g.103165942A>T | CA382239404 | DYNC2H1 | c.4656A>T (p.Glu1552Asp) c.*2201A>T (n.*2201A>T) c.2205+31523A>T (n.2205+31523A>T) c.4038A>T (p.Glu1346Asp) | gnomAD v4 |
| 11 | g.103165943A>C | CA382239405 | DYNC2H1 | c.4657A>C (p.Asn1553His) c.*2202A>C (n.*2202A>C) c.2205+31524A>C (n.2205+31524A>C) c.4039A>C (p.Asn1347His) | COSMIC |
| 11 | g.103165943A>G | CA382239406 | DYNC2H1 | c.4657A>G (p.Asn1553Asp) c.*2202A>G (n.*2202A>G) c.2205+31524A>G (n.2205+31524A>G) c.4039A>G (p.Asn1347Asp) | |
| 11 | g.103165943A>T | CA382239407 | DYNC2H1 | c.4657A>T (p.Asn1553Tyr) c.*2202A>T (n.*2202A>T) c.2205+31524A>T (n.2205+31524A>T) c.4039A>T (p.Asn1347Tyr) | |
| 11 | g.103165944A>C | CA382239408 | DYNC2H1 | c.4658A>C (p.Asn1553Thr) c.*2203A>C (n.*2203A>C) c.2205+31525A>C (n.2205+31525A>C) c.4040A>C (p.Asn1347Thr) | |
| 11 | g.103165944A>G | CA382239409 | DYNC2H1 | c.4658A>G (p.Asn1553Ser) c.*2203A>G (n.*2203A>G) c.2205+31525A>G (n.2205+31525A>G) c.4040A>G (p.Asn1347Ser) | gnomAD v4 |
| 11 | g.103165944A>T | CA382239410 | DYNC2H1 | c.4658A>T (p.Asn1553Ile) c.*2203A>T (n.*2203A>T) c.2205+31525A>T (n.2205+31525A>T) c.4040A>T (p.Asn1347Ile) | gnomAD v4 |
| 11 | g.103165945T>A | CA382239411 | DYNC2H1 | c.4659T>A (p.Asn1553Lys) c.*2204T>A (n.*2204T>A) c.2205+31526T>A (n.2205+31526T>A) c.4041T>A (p.Asn1347Lys) | |
| 11 | g.103165945T>C | CA476600589 | DYNC2H1 | c.4659T>C (p.Asn1553=) c.*2204T>C (n.*2204T>C) c.2205+31526T>C (n.2205+31526T>C) c.4041T>C (p.Asn1347=) | gnomAD v4 |
| 11 | g.103165945T>G | CA382239412 | DYNC2H1 | c.4659T>G (p.Asn1553Lys) c.*2204T>G (n.*2204T>G) c.2205+31526T>G (n.2205+31526T>G) c.4041T>G (p.Asn1347Lys) | |
| 11 | g.103165946G>A | CA382239413 | DYNC2H1 | c.4660G>A (p.Ala1554Thr) c.*2205G>A (n.*2205G>A) c.2205+31527G>A (n.2205+31527G>A) c.4042G>A (p.Ala1348Thr) | gnomAD v4 |
| 11 | g.103165946G>C | CA382239414 | DYNC2H1 | c.4660G>C (p.Ala1554Pro) c.*2205G>C (n.*2205G>C) c.2205+31527G>C (n.2205+31527G>C) c.4042G>C (p.Ala1348Pro) | |
| 11 | g.103165946G>T | CA382239415 | DYNC2H1 | c.4660G>T (p.Ala1554Ser) c.*2205G>T (n.*2205G>T) c.2205+31527G>T (n.2205+31527G>T) c.4042G>T (p.Ala1348Ser) | gnomAD v4 |
| 11 | g.103165947C>A | CA382239418 | DYNC2H1 | c.4661C>A (p.Ala1554Asp) c.*2206C>A (n.*2206C>A) c.2205+31528C>A (n.2205+31528C>A) c.4043C>A (p.Ala1348Asp) | gnomAD v4 |
| 11 | g.103165947C>G | CA382239417 | DYNC2H1 | c.4661C>G (p.Ala1554Gly) c.*2206C>G (n.*2206C>G) c.2205+31528C>G (n.2205+31528C>G) c.4043C>G (p.Ala1348Gly) | gnomAD v4 |
| 11 | g.103165947C>T | CA382239416 | DYNC2H1 | c.4661C>T (p.Ala1554Val) c.*2206C>T (n.*2206C>T) c.2205+31528C>T (n.2205+31528C>T) c.4043C>T (p.Ala1348Val) | gnomAD v4 |
| 11 | g.103165948T>A | CA476600605 | DYNC2H1 | c.4662T>A (p.Ala1554=) c.*2207T>A (n.*2207T>A) c.2205+31529T>A (n.2205+31529T>A) c.4044T>A (p.Ala1348=) | |
| 11 | g.103165948T>C | CA476600607 | DYNC2H1 | c.4662T>C (p.Ala1554=) c.*2207T>C (n.*2207T>C) c.2205+31529T>C (n.2205+31529T>C) c.4044T>C (p.Ala1348=) | gnomAD v4 |
| 11 | g.103165948T>G | CA476600610 | DYNC2H1 | c.4662T>G (p.Ala1554=) c.*2207T>G (n.*2207T>G) c.2205+31529T>G (n.2205+31529T>G) c.4044T>G (p.Ala1348=) | |
| 11 | g.103165949A= | CA1996410754 | DYNC2H1 | c.4663A= (p.Ile1555=) c.*2208A= (n.*2208A=) c.2205+31530A= (n.2205+31530A=) c.4045A= (p.Ile1349=) | |
| 11 | g.103165949A>C | CA382239419 | DYNC2H1 | c.4663A>C (p.Ile1555Leu) c.*2208A>C (n.*2208A>C) c.2205+31530A>C (n.2205+31530A>C) c.4045A>C (p.Ile1349Leu) | |
| 11 | g.103165949A>G | CA227396054 | DYNC2H1 | c.4663A>G (p.Ile1555Val) c.*2208A>G (n.*2208A>G) c.2205+31530A>G (n.2205+31530A>G) c.4045A>G (p.Ile1349Val) | dbSNP gnomAD v4 |
| 11 | g.103165949A>T | CA382239420 | DYNC2H1 | c.4663A>T (p.Ile1555Phe) c.*2208A>T (n.*2208A>T) c.2205+31530A>T (n.2205+31530A>T) c.4045A>T (p.Ile1349Phe) | |
| 11 | g.103165950T>A | CA382239421 | DYNC2H1 | c.4664T>A (p.Ile1555Asn) c.*2209T>A (n.*2209T>A) c.2205+31531T>A (n.2205+31531T>A) c.4046T>A (p.Ile1349Asn) | gnomAD v4 |
| 11 | g.103165950T>C | CA382239422 | DYNC2H1 | c.4664T>C (p.Ile1555Thr) c.*2209T>C (n.*2209T>C) c.2205+31531T>C (n.2205+31531T>C) c.4046T>C (p.Ile1349Thr) | gnomAD v4 |
| 11 | g.103165950T>G | CA382239423 | DYNC2H1 | c.4664T>G (p.Ile1555Ser) c.*2209T>G (n.*2209T>G) c.2205+31531T>G (n.2205+31531T>G) c.4046T>G (p.Ile1349Ser) | |
| 11 | g.103165951T>A | CA476600625 | DYNC2H1 | c.4665T>A (p.Ile1555=) c.*2210T>A (n.*2210T>A) c.2205+31532T>A (n.2205+31532T>A) c.4047T>A (p.Ile1349=) | |
| 11 | g.103165951T>C | CA476600629 | DYNC2H1 | c.4665T>C (p.Ile1555=) c.*2210T>C (n.*2210T>C) c.2205+31532T>C (n.2205+31532T>C) c.4047T>C (p.Ile1349=) | gnomAD v4 |
| 11 | g.103165951T>G | CA382239424 | DYNC2H1 | c.4665T>G (p.Ile1555Met) c.*2210T>G (n.*2210T>G) c.2205+31532T>G (n.2205+31532T>G) c.4047T>G (p.Ile1349Met) | |
| 11 | g.103165952A= | CA1996410755 | DYNC2H1 | c.4666A= (p.Lys1556=) c.*2211A= (n.*2211A=) c.2205+31533A= (n.2205+31533A=) c.4048A= (p.Lys1350=) | |
| 11 | g.103165952A>C | CA382239425 | DYNC2H1 | c.4666A>C (p.Lys1556Gln) c.*2211A>C (n.*2211A>C) c.2205+31533A>C (n.2205+31533A>C) c.4048A>C (p.Lys1350Gln) | |
| 11 | g.103165952A>G | CA382239426 | DYNC2H1 | c.4666A>G (p.Lys1556Glu) c.*2211A>G (n.*2211A>G) c.2205+31533A>G (n.2205+31533A>G) c.4048A>G (p.Lys1350Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165952A>T | CA382239427 | DYNC2H1 | c.4666A>T (p.Lys1556Ter) c.*2211A>T (n.*2211A>T) c.2205+31533A>T (n.2205+31533A>T) c.4048A>T (p.Lys1350Ter) | gnomAD v4 |
| 11 | g.103165954del | CA2615743810 | DYNC2H1 | c.4668del (p.Asp1557IlefsTer12) c.*2213del (n.*2213del) c.2205+31535del (n.2205+31535del) c.4050del (p.Asp1351IlefsTer12) | gnomAD v4 |
| 11 | g.103165953A>C | CA382239428 | DYNC2H1 | c.4667A>C (p.Lys1556Thr) c.*2212A>C (n.*2212A>C) c.2205+31534A>C (n.2205+31534A>C) c.4049A>C (p.Lys1350Thr) | |
| 11 | g.103165953A>G | CA382239429 | DYNC2H1 | c.4667A>G (p.Lys1556Arg) c.*2212A>G (n.*2212A>G) c.2205+31534A>G (n.2205+31534A>G) c.4049A>G (p.Lys1350Arg) | gnomAD v4 |
| 11 | g.103165953A>T | CA382239430 | DYNC2H1 | c.4667A>T (p.Lys1556Ile) c.*2212A>T (n.*2212A>T) c.2205+31534A>T (n.2205+31534A>T) c.4049A>T (p.Lys1350Ile) | |
| 11 | g.103165954A>C | CA382239431 | DYNC2H1 | c.4668A>C (p.Lys1556Asn) c.*2213A>C (n.*2213A>C) c.2205+31535A>C (n.2205+31535A>C) c.4050A>C (p.Lys1350Asn) | |
| 11 | g.103165954A>G | CA476600646 | DYNC2H1 | c.4668A>G (p.Lys1556=) c.*2213A>G (n.*2213A>G) c.2205+31535A>G (n.2205+31535A>G) c.4050A>G (p.Lys1350=) | |
| 11 | g.103165954A>T | CA382239432 | DYNC2H1 | c.4668A>T (p.Lys1556Asn) c.*2213A>T (n.*2213A>T) c.2205+31535A>T (n.2205+31535A>T) c.4050A>T (p.Lys1350Asn) | |
| 11 | g.103165955G>A | CA382239433 | DYNC2H1 | c.4669G>A (p.Asp1557Asn) c.*2214G>A (n.*2214G>A) c.2205+31536G>A (n.2205+31536G>A) c.4051G>A (p.Asp1351Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165955G>C | CA382239435 | DYNC2H1 | c.4669G>C (p.Asp1557His) c.*2214G>C (n.*2214G>C) c.2205+31536G>C (n.2205+31536G>C) c.4051G>C (p.Asp1351His) | gnomAD v4 |
| 11 | g.103165955G>T | CA382239434 | DYNC2H1 | c.4669G>T (p.Asp1557Tyr) c.*2214G>T (n.*2214G>T) c.2205+31536G>T (n.2205+31536G>T) c.4051G>T (p.Asp1351Tyr) | gnomAD v4 |
| 11 | g.103165956A>C | CA382239436 | DYNC2H1 | c.4670A>C (p.Asp1557Ala) c.*2215A>C (n.*2215A>C) c.2205+31537A>C (n.2205+31537A>C) c.4052A>C (p.Asp1351Ala) | |
| 11 | g.103165956A>G | CA382239438 | DYNC2H1 | c.4670A>G (p.Asp1557Gly) c.*2215A>G (n.*2215A>G) c.2205+31537A>G (n.2205+31537A>G) c.4052A>G (p.Asp1351Gly) | gnomAD v4 |
| 11 | g.103165956A>T | CA382239437 | DYNC2H1 | c.4670A>T (p.Asp1557Val) c.*2215A>T (n.*2215A>T) c.2205+31537A>T (n.2205+31537A>T) c.4052A>T (p.Asp1351Val) | gnomAD v4 |
| 11 | g.103165957T>A | CA382239439 | DYNC2H1 | c.4671T>A (p.Asp1557Glu) c.*2216T>A (n.*2216T>A) c.2205+31538T>A (n.2205+31538T>A) c.4053T>A (p.Asp1351Glu) | |
| 11 | g.103165957T>C | CA476600663 | DYNC2H1 | c.4671T>C (p.Asp1557=) c.*2216T>C (n.*2216T>C) c.2205+31538T>C (n.2205+31538T>C) c.4053T>C (p.Asp1351=) | gnomAD v4 |
| 11 | g.103165957T>G | CA382239440 | DYNC2H1 | c.4671T>G (p.Asp1557Glu) c.*2216T>G (n.*2216T>G) c.2205+31538T>G (n.2205+31538T>G) c.4053T>G (p.Asp1351Glu) | gnomAD v4 |
| 11 | g.103165958C>A | CA382239441 | DYNC2H1 | c.4672C>A (p.His1558Asn) c.*2217C>A (n.*2217C>A) c.2205+31539C>A (n.2205+31539C>A) c.4054C>A (p.His1352Asn) | gnomAD v4 |
| 11 | g.103165958C= | CA1996410756 | DYNC2H1 | c.4672C= (p.His1558=) c.*2217C= (n.*2217C=) c.2205+31539C= (n.2205+31539C=) c.4054C= (p.His1352=) | |
| 11 | g.103165958C>G | CA382239442 | DYNC2H1 | c.4672C>G (p.His1558Asp) c.*2217C>G (n.*2217C>G) c.2205+31539C>G (n.2205+31539C>G) c.4054C>G (p.His1352Asp) | |
| 11 | g.103165958C>T | CA227396057 | DYNC2H1 | c.4672C>T (p.His1558Tyr) c.*2217C>T (n.*2217C>T) c.2205+31539C>T (n.2205+31539C>T) c.4054C>T (p.His1352Tyr) | dbSNP gnomAD v4 |
| 11 | g.103165959A>C | CA382239443 | DYNC2H1 | c.4673A>C (p.His1558Pro) c.*2218A>C (n.*2218A>C) c.2205+31540A>C (n.2205+31540A>C) c.4055A>C (p.His1352Pro) | |
| 11 | g.103165959A>G | CA382239444 | DYNC2H1 | c.4673A>G (p.His1558Arg) c.*2218A>G (n.*2218A>G) c.2205+31540A>G (n.2205+31540A>G) c.4055A>G (p.His1352Arg) | gnomAD v4 |
| 11 | g.103165959A>T | CA382239445 | DYNC2H1 | c.4673A>T (p.His1558Leu) c.*2218A>T (n.*2218A>T) c.2205+31540A>T (n.2205+31540A>T) c.4055A>T (p.His1352Leu) | |
| 11 | g.103165960T>A | CA382239446 | DYNC2H1 | c.4674T>A (p.His1558Gln) c.*2219T>A (n.*2219T>A) c.2205+31541T>A (n.2205+31541T>A) c.4056T>A (p.His1352Gln) | gnomAD v4 |
| 11 | g.103165960T>C | CA227396058 | DYNC2H1 | c.4674T>C (p.His1558=) c.*2219T>C (n.*2219T>C) c.2205+31541T>C (n.2205+31541T>C) c.4056T>C (p.His1352=) | dbSNP gnomAD v4 |
| 11 | g.103165960T>G | CA382239447 | DYNC2H1 | c.4674T>G (p.His1558Gln) c.*2219T>G (n.*2219T>G) c.2205+31541T>G (n.2205+31541T>G) c.4056T>G (p.His1352Gln) | |
| 11 | g.103165960T= | CA1996410757 | DYNC2H1 | c.4674T= (p.His1558=) c.*2219T= (n.*2219T=) c.2205+31541T= (n.2205+31541T=) c.4056T= (p.His1352=) | |
| 11 | g.103165961A= | CA1996410758 | DYNC2H1 | c.4675A= (p.Ser1559=) c.*2220A= (n.*2220A=) c.2205+31542A= (n.2205+31542A=) c.4057A= (p.Ser1353=) | |
| 11 | g.103165961A>C | CA382239450 | DYNC2H1 | c.4675A>C (p.Ser1559Arg) c.*2220A>C (n.*2220A>C) c.2205+31542A>C (n.2205+31542A>C) c.4057A>C (p.Ser1353Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165961A>G | CA382239448 | DYNC2H1 | c.4675A>G (p.Ser1559Gly) c.*2220A>G (n.*2220A>G) c.2205+31542A>G (n.2205+31542A>G) c.4057A>G (p.Ser1353Gly) | |
| 11 | g.103165961A>T | CA382239449 | DYNC2H1 | c.4675A>T (p.Ser1559Cys) c.*2220A>T (n.*2220A>T) c.2205+31542A>T (n.2205+31542A>T) c.4057A>T (p.Ser1353Cys) | |
| 11 | g.103165962G>A | CA382239451 | DYNC2H1 | c.4676G>A (p.Ser1559Asn) c.*2221G>A (n.*2221G>A) c.2205+31543G>A (n.2205+31543G>A) c.4058G>A (p.Ser1353Asn) | gnomAD v4 |
| 11 | g.103165962G>C | CA382239452 | DYNC2H1 | c.4676G>C (p.Ser1559Thr) c.*2221G>C (n.*2221G>C) c.2205+31543G>C (n.2205+31543G>C) c.4058G>C (p.Ser1353Thr) | dbSNP gnomAD v4 |
| 11 | g.103165962G= | CA1996410759 | DYNC2H1 | c.4676G= (p.Ser1559=) c.*2221G= (n.*2221G=) c.2205+31543G= (n.2205+31543G=) c.4058G= (p.Ser1353=) | |
| 11 | g.103165962G>T | CA382239453 | DYNC2H1 | c.4676G>T (p.Ser1559Ile) c.*2221G>T (n.*2221G>T) c.2205+31543G>T (n.2205+31543G>T) c.4058G>T (p.Ser1353Ile) | gnomAD v4 |
| 11 | g.103165962_103165963insACAGG | CA2615743811 | DYNC2H1 | c.4676_4677insACAGG (p.Ser1559ArgfsTer12) c.*2221_*2222insACAGG (n.*2221_*2222insACAGG) c.2205+31543_2205+31544insACAGG (n.2205+31543_2205+31544insACAGG) c.4058_4059insACAGG (p.Ser1353ArgfsTer12) | gnomAD v4 |
| 11 | g.103165963T>A | CA382239454 | DYNC2H1 | c.4677T>A (p.Ser1559Arg) c.*2222T>A (n.*2222T>A) c.2205+31544T>A (n.2205+31544T>A) c.4059T>A (p.Ser1353Arg) | gnomAD v4 |
| 11 | g.103165963T>C | CA476600692 | DYNC2H1 | c.4677T>C (p.Ser1559=) c.*2222T>C (n.*2222T>C) c.2205+31544T>C (n.2205+31544T>C) c.4059T>C (p.Ser1353=) | |
| 11 | g.103165963T>G | CA382239455 | DYNC2H1 | c.4677T>G (p.Ser1559Arg) c.*2222T>G (n.*2222T>G) c.2205+31544T>G (n.2205+31544T>G) c.4059T>G (p.Ser1353Arg) | gnomAD v4 |
| 11 | g.103165964C>A | CA382239456 | DYNC2H1 | c.4678C>A (p.Leu1560Ile) c.*2223C>A (n.*2223C>A) c.2205+31545C>A (n.2205+31545C>A) c.4060C>A (p.Leu1354Ile) | |
| 11 | g.103165964C= | CA1996410760 | DYNC2H1 | c.4678C= (p.Leu1560=) c.*2223C= (n.*2223C=) c.2205+31545C= (n.2205+31545C=) c.4060C= (p.Leu1354=) | |
| 11 | g.103165964C>G | CA382239457 | DYNC2H1 | c.4678C>G (p.Leu1560Val) c.*2223C>G (n.*2223C>G) c.2205+31545C>G (n.2205+31545C>G) c.4060C>G (p.Leu1354Val) | |
| 11 | g.103165964C>T | CA227396059 | DYNC2H1 | c.4678C>T (p.Leu1560Phe) c.*2223C>T (n.*2223C>T) c.2205+31545C>T (n.2205+31545C>T) c.4060C>T (p.Leu1354Phe) | dbSNP gnomAD v4 |
| 11 | g.103165965T>A | CA382239458 | DYNC2H1 | c.4679T>A (p.Leu1560His) c.*2224T>A (n.*2224T>A) c.2205+31546T>A (n.2205+31546T>A) c.4061T>A (p.Leu1354His) | gnomAD v4 |
| 11 | g.103165965T>C | CA382239459 | DYNC2H1 | c.4679T>C (p.Leu1560Pro) c.*2224T>C (n.*2224T>C) c.2205+31546T>C (n.2205+31546T>C) c.4061T>C (p.Leu1354Pro) | gnomAD v4 |
| 11 | g.103165965T>G | CA382239460 | DYNC2H1 | c.4679T>G (p.Leu1560Arg) c.*2224T>G (n.*2224T>G) c.2205+31546T>G (n.2205+31546T>G) c.4061T>G (p.Leu1354Arg) | |
| 11 | g.103165966T>A | CA476600711 | DYNC2H1 | c.4680T>A (p.Leu1560=) c.*2225T>A (n.*2225T>A) c.2205+31547T>A (n.2205+31547T>A) c.4062T>A (p.Leu1354=) | |
| 11 | g.103165966T>C | CA476600716 | DYNC2H1 | c.4680T>C (p.Leu1560=) c.*2225T>C (n.*2225T>C) c.2205+31547T>C (n.2205+31547T>C) c.4062T>C (p.Leu1354=) | gnomAD v4 |
| 11 | g.103165966T>G | CA476600713 | DYNC2H1 | c.4680T>G (p.Leu1560=) c.*2225T>G (n.*2225T>G) c.2205+31547T>G (n.2205+31547T>G) c.4062T>G (p.Leu1354=) | |
| 11 | g.103165967C>A | CA382239462 | DYNC2H1 | c.4681C>A (p.His1561Asn) c.*2226C>A (n.*2226C>A) c.2205+31548C>A (n.2205+31548C>A) c.4063C>A (p.His1355Asn) | gnomAD v4 |
| 11 | g.103165967C>G | CA382239463 | DYNC2H1 | c.4681C>G (p.His1561Asp) c.*2226C>G (n.*2226C>G) c.2205+31548C>G (n.2205+31548C>G) c.4063C>G (p.His1355Asp) | gnomAD v4 |
| 11 | g.103165967C>T | CA382239461 | DYNC2H1 | c.4681C>T (p.His1561Tyr) c.*2226C>T (n.*2226C>T) c.2205+31548C>T (n.2205+31548C>T) c.4063C>T (p.His1355Tyr) | |
| 11 | g.103165968A>C | CA382239464 | DYNC2H1 | c.4682A>C (p.His1561Pro) c.*2227A>C (n.*2227A>C) c.2205+31549A>C (n.2205+31549A>C) c.4064A>C (p.His1355Pro) | |
| 11 | g.103165968A>G | CA382239465 | DYNC2H1 | c.4682A>G (p.His1561Arg) c.*2227A>G (n.*2227A>G) c.2205+31549A>G (n.2205+31549A>G) c.4064A>G (p.His1355Arg) | |
| 11 | g.103165968A>T | CA382239466 | DYNC2H1 | c.4682A>T (p.His1561Leu) c.*2227A>T (n.*2227A>T) c.2205+31549A>T (n.2205+31549A>T) c.4064A>T (p.His1355Leu) | |
| 11 | g.103165969T>A | CA382239467 | DYNC2H1 | c.4683T>A (p.His1561Gln) c.*2228T>A (n.*2228T>A) c.2205+31550T>A (n.2205+31550T>A) c.4065T>A (p.His1355Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165969T>C | CA476600727 | DYNC2H1 | c.4683T>C (p.His1561=) c.*2228T>C (n.*2228T>C) c.2205+31550T>C (n.2205+31550T>C) c.4065T>C (p.His1355=) | |
| 11 | g.103165969T>G | CA382239468 | DYNC2H1 | c.4683T>G (p.His1561Gln) c.*2228T>G (n.*2228T>G) c.2205+31550T>G (n.2205+31550T>G) c.4065T>G (p.His1355Gln) | |
| 11 | g.103165969T= | CA1996410761 | DYNC2H1 | c.4683T= (p.His1561=) c.*2228T= (n.*2228T=) c.2205+31550T= (n.2205+31550T=) c.4065T= (p.His1355=) | |
| 11 | g.103165970C>A | CA382239469 | DYNC2H1 | c.4684C>A (p.Gln1562Lys) c.*2229C>A (n.*2229C>A) c.2205+31551C>A (n.2205+31551C>A) c.4066C>A (p.Gln1356Lys) | gnomAD v4 |
| 11 | g.103165970C>G | CA382239470 | DYNC2H1 | c.4684C>G (p.Gln1562Glu) c.*2229C>G (n.*2229C>G) c.2205+31551C>G (n.2205+31551C>G) c.4066C>G (p.Gln1356Glu) | |
| 11 | g.103165970C>T | CA382239471 | DYNC2H1 | c.4684C>T (p.Gln1562Ter) c.*2229C>T (n.*2229C>T) c.2205+31551C>T (n.2205+31551C>T) c.4066C>T (p.Gln1356Ter) | gnomAD v4 |
| 11 | g.103165971A>C | CA382239472 | DYNC2H1 | c.4685A>C (p.Gln1562Pro) c.*2230A>C (n.*2230A>C) c.2205+31552A>C (n.2205+31552A>C) c.4067A>C (p.Gln1356Pro) | |
| 11 | g.103165971A>G | CA382239473 | DYNC2H1 | c.4685A>G (p.Gln1562Arg) c.*2230A>G (n.*2230A>G) c.2205+31552A>G (n.2205+31552A>G) c.4067A>G (p.Gln1356Arg) | COSMIC |
| 11 | g.103165971A>T | CA382239474 | DYNC2H1 | c.4685A>T (p.Gln1562Leu) c.*2230A>T (n.*2230A>T) c.2205+31552A>T (n.2205+31552A>T) c.4067A>T (p.Gln1356Leu) | gnomAD v4 |
| 11 | g.103165972G>A | CA476600728 | DYNC2H1 | c.4686G>A (p.Gln1562=) c.*2231G>A (n.*2231G>A) c.2205+31553G>A (n.2205+31553G>A) c.4068G>A (p.Gln1356=) | |
| 11 | g.103165972G>C | CA382239475 | DYNC2H1 | c.4686G>C (p.Gln1562His) c.*2231G>C (n.*2231G>C) c.2205+31553G>C (n.2205+31553G>C) c.4068G>C (p.Gln1356His) | |
| 11 | g.103165972G= | CA1996410762 | DYNC2H1 | c.4686G= (p.Gln1562=) c.*2231G= (n.*2231G=) c.2205+31553G= (n.2205+31553G=) c.4068G= (p.Gln1356=) | |
| 11 | g.103165972G>T | CA382239476 | DYNC2H1 | c.4686G>T (p.Gln1562His) c.*2231G>T (n.*2231G>T) c.2205+31553G>T (n.2205+31553G>T) c.4068G>T (p.Gln1356His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165973A>C | CA382239479 | DYNC2H1 | c.4687A>C (p.Ile1563Leu) c.*2232A>C (n.*2232A>C) c.2205+31554A>C (n.2205+31554A>C) c.4069A>C (p.Ile1357Leu) | |
| 11 | g.103165973A>G | CA382239478 | DYNC2H1 | c.4687A>G (p.Ile1563Val) c.*2232A>G (n.*2232A>G) c.2205+31554A>G (n.2205+31554A>G) c.4069A>G (p.Ile1357Val) | |
| 11 | g.103165973A>T | CA382239477 | DYNC2H1 | c.4687A>T (p.Ile1563Phe) c.*2232A>T (n.*2232A>T) c.2205+31554A>T (n.2205+31554A>T) c.4069A>T (p.Ile1357Phe) | |
| 11 | g.103165974T>A | CA382239480 | DYNC2H1 | c.4688T>A (p.Ile1563Asn) c.*2233T>A (n.*2233T>A) c.2205+31555T>A (n.2205+31555T>A) c.4070T>A (p.Ile1357Asn) | |
| 11 | g.103165974T>C | CA382239481 | DYNC2H1 | c.4688T>C (p.Ile1563Thr) c.*2233T>C (n.*2233T>C) c.2205+31555T>C (n.2205+31555T>C) c.4070T>C (p.Ile1357Thr) | gnomAD v4 |
| 11 | g.103165974T>G | CA382239482 | DYNC2H1 | c.4688T>G (p.Ile1563Ser) c.*2233T>G (n.*2233T>G) c.2205+31555T>G (n.2205+31555T>G) c.4070T>G (p.Ile1357Ser) | |
| 11 | g.103165975T>A | CA476600729 | DYNC2H1 | c.4689T>A (p.Ile1563=) c.*2234T>A (n.*2234T>A) c.2205+31556T>A (n.2205+31556T>A) c.4071T>A (p.Ile1357=) | |
| 11 | g.103165975T>C | CA476600730 | DYNC2H1 | c.4689T>C (p.Ile1563=) c.*2234T>C (n.*2234T>C) c.2205+31556T>C (n.2205+31556T>C) c.4071T>C (p.Ile1357=) | gnomAD v4 |
| 11 | g.103165975T>G | CA382239483 | DYNC2H1 | c.4689T>G (p.Ile1563Met) c.*2234T>G (n.*2234T>G) c.2205+31556T>G (n.2205+31556T>G) c.4071T>G (p.Ile1357Met) | |
| 11 | g.103165976G>A | CA382239484 | DYNC2H1 | c.4690G>A (p.Glu1564Lys) c.*2235G>A (n.*2235G>A) c.2205+31557G>A (n.2205+31557G>A) c.4072G>A (p.Glu1358Lys) | |
| 11 | g.103165976G>C | CA382239485 | DYNC2H1 | c.4690G>C (p.Glu1564Gln) c.*2235G>C (n.*2235G>C) c.2205+31557G>C (n.2205+31557G>C) c.4072G>C (p.Glu1358Gln) | |
| 11 | g.103165976G>T | CA382239486 | DYNC2H1 | c.4690G>T (p.Glu1564Ter) c.*2235G>T (n.*2235G>T) c.2205+31557G>T (n.2205+31557G>T) c.4072G>T (p.Glu1358Ter) | gnomAD v4 |
| 11 | g.103165977A>C | CA382239487 | DYNC2H1 | c.4691A>C (p.Glu1564Ala) c.*2236A>C (n.*2236A>C) c.2205+31558A>C (n.2205+31558A>C) c.4073A>C (p.Glu1358Ala) | |
| 11 | g.103165977A>G | CA382239488 | DYNC2H1 | c.4691A>G (p.Glu1564Gly) c.*2236A>G (n.*2236A>G) c.2205+31558A>G (n.2205+31558A>G) c.4073A>G (p.Glu1358Gly) | |
| 11 | g.103165977A>T | CA382239489 | DYNC2H1 | c.4691A>T (p.Glu1564Val) c.*2236A>T (n.*2236A>T) c.2205+31558A>T (n.2205+31558A>T) c.4073A>T (p.Glu1358Val) | |
| 11 | g.103165978A>C | CA382239490 | DYNC2H1 | c.4692A>C (p.Glu1564Asp) c.*2237A>C (n.*2237A>C) c.2205+31559A>C (n.2205+31559A>C) c.4074A>C (p.Glu1358Asp) | |
| 11 | g.103165978A>G | CA476600731 | DYNC2H1 | c.4692A>G (p.Glu1564=) c.*2237A>G (n.*2237A>G) c.2205+31559A>G (n.2205+31559A>G) c.4074A>G (p.Glu1358=) | gnomAD v4 |
| 11 | g.103165978A>T | CA382239491 | DYNC2H1 | c.4692A>T (p.Glu1564Asp) c.*2237A>T (n.*2237A>T) c.2205+31559A>T (n.2205+31559A>T) c.4074A>T (p.Glu1358Asp) | |
| 11 | g.103165979A>C | CA382239494 | DYNC2H1 | c.4693A>C (p.Thr1565Pro) c.*2238A>C (n.*2238A>C) c.2205+31560A>C (n.2205+31560A>C) c.4075A>C (p.Thr1359Pro) | |
| 11 | g.103165979A>G | CA382239493 | DYNC2H1 | c.4693A>G (p.Thr1565Ala) c.*2238A>G (n.*2238A>G) c.2205+31560A>G (n.2205+31560A>G) c.4075A>G (p.Thr1359Ala) | |
| 11 | g.103165979A>T | CA382239492 | DYNC2H1 | c.4693A>T (p.Thr1565Ser) c.*2238A>T (n.*2238A>T) c.2205+31560A>T (n.2205+31560A>T) c.4075A>T (p.Thr1359Ser) | |
| 11 | g.103165980C>A | CA382239495 | DYNC2H1 | c.4694C>A (p.Thr1565Lys) c.*2239C>A (n.*2239C>A) c.2205+31561C>A (n.2205+31561C>A) c.4076C>A (p.Thr1359Lys) | gnomAD v4 |
| 11 | g.103165980C>G | CA382239497 | DYNC2H1 | c.4694C>G (p.Thr1565Arg) c.*2239C>G (n.*2239C>G) c.2205+31561C>G (n.2205+31561C>G) c.4076C>G (p.Thr1359Arg) | |
| 11 | g.103165980C>T | CA382239496 | DYNC2H1 | c.4694C>T (p.Thr1565Ile) c.*2239C>T (n.*2239C>T) c.2205+31561C>T (n.2205+31561C>T) c.4076C>T (p.Thr1359Ile) | |
| 11 | g.103165981A= | CA1996410763 | DYNC2H1 | c.4695A= (p.Thr1565=) c.*2240A= (n.*2240A=) c.2205+31562A= (n.2205+31562A=) c.4077A= (p.Thr1359=) | |
| 11 | g.103165981A>C | CA476600734 | DYNC2H1 | c.4695A>C (p.Thr1565=) c.*2240A>C (n.*2240A>C) c.2205+31562A>C (n.2205+31562A>C) c.4077A>C (p.Thr1359=) | |
| 11 | g.103165981A>G | CA476600732 | DYNC2H1 | c.4695A>G (p.Thr1565=) c.*2240A>G (n.*2240A>G) c.2205+31562A>G (n.2205+31562A>G) c.4077A>G (p.Thr1359=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165981A>T | CA476600733 | DYNC2H1 | c.4695A>T (p.Thr1565=) c.*2240A>T (n.*2240A>T) c.2205+31562A>T (n.2205+31562A>T) c.4077A>T (p.Thr1359=) | ClinVar dbSNP |
| 11 | g.103165982C>A | CA382239498 | DYNC2H1 | c.4696C>A (p.Gln1566Lys) c.*2241C>A (n.*2241C>A) c.2205+31563C>A (n.2205+31563C>A) c.4078C>A (p.Gln1360Lys) | gnomAD v4 |
| 11 | g.103165982C>G | CA382239499 | DYNC2H1 | c.4696C>G (p.Gln1566Glu) c.*2241C>G (n.*2241C>G) c.2205+31563C>G (n.2205+31563C>G) c.4078C>G (p.Gln1360Glu) | ClinVar |
| 11 | g.103165982C>T | CA382239500 | DYNC2H1 | c.4696C>T (p.Gln1566Ter) c.*2241C>T (n.*2241C>T) c.2205+31563C>T (n.2205+31563C>T) c.4078C>T (p.Gln1360Ter) | gnomAD v4 |
| 11 | g.103165982_103165983delinsCA | CA1996410764 | DYNC2H1 | c.4696_4697delinsCA (p.Gln1566=) c.*2241_*2242delinsCA (n.*2241_*2242delinsCA) c.2205+31563_2205+31564delinsCA (n.2205+31563_2205+31564delinsCA) c.4078_4079delinsCA (p.Gln1360=) | |
| 11 | g.103165983A>C | CA382239501 | DYNC2H1 | c.4697A>C (p.Gln1566Pro) c.*2242A>C (n.*2242A>C) c.2205+31564A>C (n.2205+31564A>C) c.4079A>C (p.Gln1360Pro) | |
| 11 | g.103165983A>G | CA382239502 | DYNC2H1 | c.4697A>G (p.Gln1566Arg) c.*2242A>G (n.*2242A>G) c.2205+31564A>G (n.2205+31564A>G) c.4079A>G (p.Gln1360Arg) | |
| 11 | g.103165983A>T | CA382239503 | DYNC2H1 | c.4697A>T (p.Gln1566Leu) c.*2242A>T (n.*2242A>T) c.2205+31564A>T (n.2205+31564A>T) c.4079A>T (p.Gln1360Leu) | |
| 11 | g.103165984del | CA891862825 | DYNC2H1 | c.4698del (p.Gln1566HisfsTer3) c.*2243del (n.*2243del) c.2205+31565del (n.2205+31565del) c.4080del (p.Gln1360HisfsTer3) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165984A>C | CA382239504 | DYNC2H1 | c.4698A>C (p.Gln1566His) c.*2243A>C (n.*2243A>C) c.2205+31565A>C (n.2205+31565A>C) c.4080A>C (p.Gln1360His) | |
| 11 | g.103165984A>G | CA476600735 | DYNC2H1 | c.4698A>G (p.Gln1566=) c.*2243A>G (n.*2243A>G) c.2205+31565A>G (n.2205+31565A>G) c.4080A>G (p.Gln1360=) | gnomAD v4 |
| 11 | g.103165984A>T | CA382239505 | DYNC2H1 | c.4698A>T (p.Gln1566His) c.*2243A>T (n.*2243A>T) c.2205+31565A>T (n.2205+31565A>T) c.4080A>T (p.Gln1360His) | |
| 11 | g.103165985C>A | CA382239506 | DYNC2H1 | c.4699C>A (p.Leu1567Met) c.*2244C>A (n.*2244C>A) c.2205+31566C>A (n.2205+31566C>A) c.4081C>A (p.Leu1361Met) | gnomAD v4 |
| 11 | g.103165985C= | CA1996410765 | DYNC2H1 | c.4699C= (p.Leu1567=) c.*2244C= (n.*2244C=) c.2205+31566C= (n.2205+31566C=) c.4081C= (p.Leu1361=) | |
| 11 | g.103165985C>G | CA227396060 | DYNC2H1 | c.4699C>G (p.Leu1567Val) c.*2244C>G (n.*2244C>G) c.2205+31566C>G (n.2205+31566C>G) c.4081C>G (p.Leu1361Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165985C>T | CA476600737 | DYNC2H1 | c.4699C>T (p.Leu1567=) c.*2244C>T (n.*2244C>T) c.2205+31566C>T (n.2205+31566C>T) c.4081C>T (p.Leu1361=) | |
| 11 | g.103165986T>A | CA382239507 | DYNC2H1 | c.4700T>A (p.Leu1567Gln) c.*2245T>A (n.*2245T>A) c.2205+31567T>A (n.2205+31567T>A) c.4082T>A (p.Leu1361Gln) | |
| 11 | g.103165986T>C | CA382239508 | DYNC2H1 | c.4700T>C (p.Leu1567Pro) c.*2245T>C (n.*2245T>C) c.2205+31567T>C (n.2205+31567T>C) c.4082T>C (p.Leu1361Pro) | gnomAD v4 |
| 11 | g.103165986T>G | CA382239509 | DYNC2H1 | c.4700T>G (p.Leu1567Arg) c.*2245T>G (n.*2245T>G) c.2205+31567T>G (n.2205+31567T>G) c.4082T>G (p.Leu1361Arg) | |
| 11 | g.103165987G>A | CA6253615 | DYNC2H1 | c.4701G>A (p.Leu1567=) c.*2246G>A (n.*2246G>A) c.2205+31568G>A (n.2205+31568G>A) c.4083G>A (p.Leu1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103165987G>C | CA476600738 | DYNC2H1 | c.4701G>C (p.Leu1567=) c.*2246G>C (n.*2246G>C) c.2205+31568G>C (n.2205+31568G>C) c.4083G>C (p.Leu1361=) | |
| 11 | g.103165987G= | CA1996410766 | DYNC2H1 | c.4701G= (p.Leu1567=) c.*2246G= (n.*2246G=) c.2205+31568G= (n.2205+31568G=) c.4083G= (p.Leu1361=) | |
| 11 | g.103165987G>T | CA476600739 | DYNC2H1 | c.4701G>T (p.Leu1567=) c.*2246G>T (n.*2246G>T) c.2205+31568G>T (n.2205+31568G>T) c.4083G>T (p.Leu1361=) | |
| 11 | g.103165988del | CA2615743812 | DYNC2H1 | c.4702del (p.Val1568Ter) c.*2247del (n.*2247del) c.2205+31569del (n.2205+31569del) c.4084del (p.Val1362Ter) | gnomAD v4 |
| 11 | g.103165988G>A | CA382239510 | DYNC2H1 | c.4702G>A (p.Val1568Met) c.*2247G>A (n.*2247G>A) c.2205+31569G>A (n.2205+31569G>A) c.4084G>A (p.Val1362Met) | gnomAD v4 |
| 11 | g.103165988G>C | CA382239511 | DYNC2H1 | c.4702G>C (p.Val1568Leu) c.*2247G>C (n.*2247G>C) c.2205+31569G>C (n.2205+31569G>C) c.4084G>C (p.Val1362Leu) | gnomAD v4 |
| 11 | g.103165988G= | CA1996410767 | DYNC2H1 | c.4702G= (p.Val1568=) c.*2247G= (n.*2247G=) c.2205+31569G= (n.2205+31569G=) c.4084G= (p.Val1362=) | |
| 11 | g.103165988G>T | CA6253616 | DYNC2H1 | c.4702G>T (p.Val1568Leu) c.*2247G>T (n.*2247G>T) c.2205+31569G>T (n.2205+31569G>T) c.4084G>T (p.Val1362Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165989T>A | CA382239512 | DYNC2H1 | c.4703T>A (p.Val1568Glu) c.*2248T>A (n.*2248T>A) c.2205+31570T>A (n.2205+31570T>A) c.4085T>A (p.Val1362Glu) | |
| 11 | g.103165989T>C | CA382239513 | DYNC2H1 | c.4703T>C (p.Val1568Ala) c.*2248T>C (n.*2248T>C) c.2205+31570T>C (n.2205+31570T>C) c.4085T>C (p.Val1362Ala) | gnomAD v4 |
| 11 | g.103165989T>G | CA382239514 | DYNC2H1 | c.4703T>G (p.Val1568Gly) c.*2248T>G (n.*2248T>G) c.2205+31570T>G (n.2205+31570T>G) c.4085T>G (p.Val1362Gly) | |
| 11 | g.103165990G>A | CA476600741 | DYNC2H1 | c.4704G>A (p.Val1568=) c.*2249G>A (n.*2249G>A) c.2205+31571G>A (n.2205+31571G>A) c.4086G>A (p.Val1362=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165990G>C | CA476600742 | DYNC2H1 | c.4704G>C (p.Val1568=) c.*2249G>C (n.*2249G>C) c.2205+31571G>C (n.2205+31571G>C) c.4086G>C (p.Val1362=) | |
| 11 | g.103165990G= | CA1996410768 | DYNC2H1 | c.4704G= (p.Val1568=) c.*2249G= (n.*2249G=) c.2205+31571G= (n.2205+31571G=) c.4086G= (p.Val1362=) | |
| 11 | g.103165990G>T | CA476600743 | DYNC2H1 | c.4704G>T (p.Val1568=) c.*2249G>T (n.*2249G>T) c.2205+31571G>T (n.2205+31571G>T) c.4086G>T (p.Val1362=) | gnomAD v4 |
| 11 | g.103165991A>C | CA382239515 | DYNC2H1 | c.4705A>C (p.Asn1569His) c.*2250A>C (n.*2250A>C) c.2205+31572A>C (n.2205+31572A>C) c.4087A>C (p.Asn1363His) | |
| 11 | g.103165991A>G | CA382239516 | DYNC2H1 | c.4705A>G (p.Asn1569Asp) c.*2250A>G (n.*2250A>G) c.2205+31572A>G (n.2205+31572A>G) c.4087A>G (p.Asn1363Asp) | |
| 11 | g.103165991A>T | CA382239517 | DYNC2H1 | c.4705A>T (p.Asn1569Tyr) c.*2250A>T (n.*2250A>T) c.2205+31572A>T (n.2205+31572A>T) c.4087A>T (p.Asn1363Tyr) | |
| 11 | g.103165992A>C | CA382239518 | DYNC2H1 | c.4706A>C (p.Asn1569Thr) c.*2251A>C (n.*2251A>C) c.2205+31573A>C (n.2205+31573A>C) c.4088A>C (p.Asn1363Thr) | |
| 11 | g.103165992A>G | CA382239519 | DYNC2H1 | c.4706A>G (p.Asn1569Ser) c.*2251A>G (n.*2251A>G) c.2205+31573A>G (n.2205+31573A>G) c.4088A>G (p.Asn1363Ser) | |
| 11 | g.103165992A>T | CA382239520 | DYNC2H1 | c.4706A>T (p.Asn1569Ile) c.*2251A>T (n.*2251A>T) c.2205+31573A>T (n.2205+31573A>T) c.4088A>T (p.Asn1363Ile) | |
| 11 | g.103165993T>A | CA382239522 | DYNC2H1 | c.4707T>A (p.Asn1569Lys) c.*2252T>A (n.*2252T>A) c.2205+31574T>A (n.2205+31574T>A) c.4089T>A (p.Asn1363Lys) | |
| 11 | g.103165993T>C | CA476600746 | DYNC2H1 | c.4707T>C (p.Asn1569=) c.*2252T>C (n.*2252T>C) c.2205+31574T>C (n.2205+31574T>C) c.4089T>C (p.Asn1363=) | |
| 11 | g.103165993T>G | CA382239521 | DYNC2H1 | c.4707T>G (p.Asn1569Lys) c.*2252T>G (n.*2252T>G) c.2205+31574T>G (n.2205+31574T>G) c.4089T>G (p.Asn1363Lys) | |
| 11 | g.103165994A= | CA1996410769 | DYNC2H1 | c.4708A= (p.Lys1570=) c.*2253A= (n.*2253A=) c.2205+31575A= (n.2205+31575A=) c.4090A= (p.Lys1364=) | |
| 11 | g.103165994A>C | CA382239523 | DYNC2H1 | c.4708A>C (p.Lys1570Gln) c.*2253A>C (n.*2253A>C) c.2205+31575A>C (n.2205+31575A>C) c.4090A>C (p.Lys1364Gln) | |
| 11 | g.103165994A>G | CA382239524 | DYNC2H1 | c.4708A>G (p.Lys1570Glu) c.*2253A>G (n.*2253A>G) c.2205+31575A>G (n.2205+31575A>G) c.4090A>G (p.Lys1364Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165994A>T | CA382239525 | DYNC2H1 | c.4708A>T (p.Lys1570Ter) c.*2253A>T (n.*2253A>T) c.2205+31575A>T (n.2205+31575A>T) c.4090A>T (p.Lys1364Ter) | |
| 11 | g.103165995A>C | CA382239526 | DYNC2H1 | c.4709A>C (p.Lys1570Thr) c.*2254A>C (n.*2254A>C) c.2205+31576A>C (n.2205+31576A>C) c.4091A>C (p.Lys1364Thr) | |
| 11 | g.103165995A>G | CA382239527 | DYNC2H1 | c.4709A>G (p.Lys1570Arg) c.*2254A>G (n.*2254A>G) c.2205+31576A>G (n.2205+31576A>G) c.4091A>G (p.Lys1364Arg) | |
| 11 | g.103165995A>T | CA382239528 | DYNC2H1 | c.4709A>T (p.Lys1570Met) c.*2254A>T (n.*2254A>T) c.2205+31576A>T (n.2205+31576A>T) c.4091A>T (p.Lys1364Met) | |
| 11 | g.103165996G>A | CA476600750 | DYNC2H1 | c.4710G>A (p.Lys1570=) c.*2255G>A (n.*2255G>A) c.2205+31577G>A (n.2205+31577G>A) c.4092G>A (p.Lys1364=) | gnomAD v4 |
| 11 | g.103165996G>C | CA382239529 | DYNC2H1 | c.4710G>C (p.Lys1570Asn) c.*2255G>C (n.*2255G>C) c.2205+31577G>C (n.2205+31577G>C) c.4092G>C (p.Lys1364Asn) | dbSNP |
| 11 | g.103165996G= | CA1996410770 | DYNC2H1 | c.4710G= (p.Lys1570=) c.*2255G= (n.*2255G=) c.2205+31577G= (n.2205+31577G=) c.4092G= (p.Lys1364=) | |
| 11 | g.103165996G>T | CA382239530 | DYNC2H1 | c.4710G>T (p.Lys1570Asn) c.*2255G>T (n.*2255G>T) c.2205+31577G>T (n.2205+31577G>T) c.4092G>T (p.Lys1364Asn) | |
| 11 | g.103165997T>A | CA382239531 | DYNC2H1 | c.4711T>A (p.Leu1571Ile) c.*2256T>A (n.*2256T>A) c.2205+31578T>A (n.2205+31578T>A) c.4093T>A (p.Leu1365Ile) | |
| 11 | g.103165997T>C | CA476600752 | DYNC2H1 | c.4711T>C (p.Leu1571=) c.*2256T>C (n.*2256T>C) c.2205+31578T>C (n.2205+31578T>C) c.4093T>C (p.Leu1365=) | gnomAD v4 |
| 11 | g.103165997T>G | CA382239532 | DYNC2H1 | c.4711T>G (p.Leu1571Val) c.*2256T>G (n.*2256T>G) c.2205+31578T>G (n.2205+31578T>G) c.4093T>G (p.Leu1365Val) | |
| 11 | g.103165998T>A | CA382239533 | DYNC2H1 | c.4712T>A (p.Leu1571Ter) c.*2257T>A (n.*2257T>A) c.2205+31579T>A (n.2205+31579T>A) c.4094T>A (p.Leu1365Ter) | |
| 11 | g.103165998T>C | CA382239534 | DYNC2H1 | c.4712T>C (p.Leu1571Ser) c.*2257T>C (n.*2257T>C) c.2205+31579T>C (n.2205+31579T>C) c.4094T>C (p.Leu1365Ser) | |
| 11 | g.103165998T>G | CA382239535 | DYNC2H1 | c.4712T>G (p.Leu1571Ter) c.*2257T>G (n.*2257T>G) c.2205+31579T>G (n.2205+31579T>G) c.4094T>G (p.Leu1365Ter) | |
| 11 | g.103165999A= | CA1996410771 | DYNC2H1 | c.4713A= (p.Leu1571=) c.*2258A= (n.*2258A=) c.2205+31580A= (n.2205+31580A=) c.4095A= (p.Leu1365=) | |
| 11 | g.103165999A>C | CA382239536 | DYNC2H1 | c.4713A>C (p.Leu1571Phe) c.*2258A>C (n.*2258A>C) c.2205+31580A>C (n.2205+31580A>C) c.4095A>C (p.Leu1365Phe) | |
| 11 | g.103165999A>G | CA476600754 | DYNC2H1 | c.4713A>G (p.Leu1571=) c.*2258A>G (n.*2258A>G) c.2205+31580A>G (n.2205+31580A>G) c.4095A>G (p.Leu1365=) | dbSNP gnomAD v4 |
| 11 | g.103165999A>T | CA382239537 | DYNC2H1 | c.4713A>T (p.Leu1571Phe) c.*2258A>T (n.*2258A>T) c.2205+31580A>T (n.2205+31580A>T) c.4095A>T (p.Leu1365Phe) | |
| 11 | g.103166000G>A | CA382239538 | DYNC2H1 | c.4714G>A (p.Glu1572Lys) c.*2259G>A (n.*2259G>A) c.2205+31581G>A (n.2205+31581G>A) c.4096G>A (p.Glu1366Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166000G>C | CA382239540 | DYNC2H1 | c.4714G>C (p.Glu1572Gln) c.*2259G>C (n.*2259G>C) c.2205+31581G>C (n.2205+31581G>C) c.4096G>C (p.Glu1366Gln) | COSMIC |
| 11 | g.103166000G= | CA1996410772 | DYNC2H1 | c.4714G= (p.Glu1572=) c.*2259G= (n.*2259G=) c.2205+31581G= (n.2205+31581G=) c.4096G= (p.Glu1366=) | |
| 11 | g.103166000G>T | CA382239539 | DYNC2H1 | c.4714G>T (p.Glu1572Ter) c.*2259G>T (n.*2259G>T) c.2205+31581G>T (n.2205+31581G>T) c.4096G>T (p.Glu1366Ter) | |
| 11 | g.103166001A>C | CA382239541 | DYNC2H1 | c.4715A>C (p.Glu1572Ala) c.*2260A>C (n.*2260A>C) c.2205+31582A>C (n.2205+31582A>C) c.4097A>C (p.Glu1366Ala) | |
| 11 | g.103166001A>G | CA382239542 | DYNC2H1 | c.4715A>G (p.Glu1572Gly) c.*2260A>G (n.*2260A>G) c.2205+31582A>G (n.2205+31582A>G) c.4097A>G (p.Glu1366Gly) | gnomAD v4 |
| 11 | g.103166001A>T | CA382239543 | DYNC2H1 | c.4715A>T (p.Glu1572Val) c.*2260A>T (n.*2260A>T) c.2205+31582A>T (n.2205+31582A>T) c.4097A>T (p.Glu1366Val) | |
| 11 | g.103166002G>A | CA476600756 | DYNC2H1 | c.4716G>A (p.Glu1572=) c.*2261G>A (n.*2261G>A) c.2205+31583G>A (n.2205+31583G>A) c.4098G>A (p.Glu1366=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166002G>C | CA382239544 | DYNC2H1 | c.4716G>C (p.Glu1572Asp) c.*2261G>C (n.*2261G>C) c.2205+31583G>C (n.2205+31583G>C) c.4098G>C (p.Glu1366Asp) | |
| 11 | g.103166002G= | CA1996410773 | DYNC2H1 | c.4716G= (p.Glu1572=) c.*2261G= (n.*2261G=) c.2205+31583G= (n.2205+31583G=) c.4098G= (p.Glu1366=) | |
| 11 | g.103166002G>T | CA382239545 | DYNC2H1 | c.4716G>T (p.Glu1572Asp) c.*2261G>T (n.*2261G>T) c.2205+31583G>T (n.2205+31583G>T) c.4098G>T (p.Glu1366Asp) | |
| 11 | g.103166003C>A | CA382239546 | DYNC2H1 | c.4717C>A (p.Gln1573Lys) c.*2262C>A (n.*2262C>A) c.2205+31584C>A (n.2205+31584C>A) c.4099C>A (p.Gln1367Lys) | |
| 11 | g.103166003C>G | CA382239547 | DYNC2H1 | c.4717C>G (p.Gln1573Glu) c.*2262C>G (n.*2262C>G) c.2205+31584C>G (n.2205+31584C>G) c.4099C>G (p.Gln1367Glu) | |
| 11 | g.103166003C>T | CA382239548 | DYNC2H1 | c.4717C>T (p.Gln1573Ter) c.*2262C>T (n.*2262C>T) c.2205+31584C>T (n.2205+31584C>T) c.4099C>T (p.Gln1367Ter) | gnomAD v4 |