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.103184944T>A | CA382248903 | DYNC2H1 | c.6526T>A (p.Leu2176Met) c.*4071T>A (n.*4071T>A) c.2205+50525T>A (n.2205+50525T>A) c.5908T>A (p.Leu1970Met) | |
| 11 | g.103184944T>C | CA476609750 | DYNC2H1 | c.6526T>C (p.Leu2176=) c.*4071T>C (n.*4071T>C) c.2205+50525T>C (n.2205+50525T>C) c.5908T>C (p.Leu1970=) | |
| 11 | g.103184944T>G | CA382248904 | DYNC2H1 | c.6526T>G (p.Leu2176Val) c.*4071T>G (n.*4071T>G) c.2205+50525T>G (n.2205+50525T>G) c.5908T>G (p.Leu1970Val) | |
| 11 | g.103184945T>A | CA382248905 | DYNC2H1 | c.6527T>A (p.Leu2176Ter) c.*4072T>A (n.*4072T>A) c.2205+50526T>A (n.2205+50526T>A) c.5909T>A (p.Leu1970Ter) | |
| 11 | g.103184945T>C | CA382248906 | DYNC2H1 | c.6527T>C (p.Leu2176Ser) c.*4072T>C (n.*4072T>C) c.2205+50526T>C (n.2205+50526T>C) c.5909T>C (p.Leu1970Ser) | |
| 11 | g.103184945T>G | CA382248907 | DYNC2H1 | c.6527T>G (p.Leu2176Trp) c.*4072T>G (n.*4072T>G) c.2205+50526T>G (n.2205+50526T>G) c.5909T>G (p.Leu1970Trp) | |
| 11 | g.103184946G>A | CA476609752 | DYNC2H1 | c.6528G>A (p.Leu2176=) c.*4073G>A (n.*4073G>A) c.2205+50527G>A (n.2205+50527G>A) c.5910G>A (p.Leu1970=) | dbSNP gnomAD v4 |
| 11 | g.103184946G>C | CA382248908 | DYNC2H1 | c.6528G>C (p.Leu2176Phe) c.*4073G>C (n.*4073G>C) c.2205+50527G>C (n.2205+50527G>C) c.5910G>C (p.Leu1970Phe) | |
| 11 | g.103184946G= | CA1996418741 | DYNC2H1 | c.6528G= (p.Leu2176=) c.*4073G= (n.*4073G=) c.2205+50527G= (n.2205+50527G=) c.5910G= (p.Leu1970=) | |
| 11 | g.103184946G>T | CA382248909 | DYNC2H1 | c.6528G>T (p.Leu2176Phe) c.*4073G>T (n.*4073G>T) c.2205+50527G>T (n.2205+50527G>T) c.5910G>T (p.Leu1970Phe) | COSMIC |
| 11 | g.103184947T>A | CA382248910 | DYNC2H1 | c.6529T>A (p.Ser2177Thr) c.*4074T>A (n.*4074T>A) c.2205+50528T>A (n.2205+50528T>A) c.5911T>A (p.Ser1971Thr) | |
| 11 | g.103184947T>C | CA382248911 | DYNC2H1 | c.6529T>C (p.Ser2177Pro) c.*4074T>C (n.*4074T>C) c.2205+50528T>C (n.2205+50528T>C) c.5911T>C (p.Ser1971Pro) | |
| 11 | g.103184947T>G | CA382248912 | DYNC2H1 | c.6529T>G (p.Ser2177Ala) c.*4074T>G (n.*4074T>G) c.2205+50528T>G (n.2205+50528T>G) c.5911T>G (p.Ser1971Ala) | |
| 11 | g.103184948C>A | CA382248913 | DYNC2H1 | c.6530C>A (p.Ser2177Ter) c.*4075C>A (n.*4075C>A) c.2205+50529C>A (n.2205+50529C>A) c.5912C>A (p.Ser1971Ter) | |
| 11 | g.103184948C>G | CA382248914 | DYNC2H1 | c.6530C>G (p.Ser2177Ter) c.*4075C>G (n.*4075C>G) c.2205+50529C>G (n.2205+50529C>G) c.5912C>G (p.Ser1971Ter) | |
| 11 | g.103184948C>T | CA382248915 | DYNC2H1 | c.6530C>T (p.Ser2177Leu) c.*4075C>T (n.*4075C>T) c.2205+50529C>T (n.2205+50529C>T) c.5912C>T (p.Ser1971Leu) | |
| 11 | g.103184950_103184951del | CA2503417988 | DYNC2H1 | c.6532_6533del (p.His2178SerfsTer8) c.*4077_*4078del (n.*4077_*4078del) c.2205+50531_2205+50532del (n.2205+50531_2205+50532del) c.5914_5915del (p.His1972SerfsTer8) | |
| 11 | g.103184949A>C | CA476609753 | DYNC2H1 | c.6531A>C (p.Ser2177=) c.*4076A>C (n.*4076A>C) c.2205+50530A>C (n.2205+50530A>C) c.5913A>C (p.Ser1971=) | |
| 11 | g.103184949A>G | CA476609754 | DYNC2H1 | c.6531A>G (p.Ser2177=) c.*4076A>G (n.*4076A>G) c.2205+50530A>G (n.2205+50530A>G) c.5913A>G (p.Ser1971=) | |
| 11 | g.103184949A>T | CA476609755 | DYNC2H1 | c.6531A>T (p.Ser2177=) c.*4076A>T (n.*4076A>T) c.2205+50530A>T (n.2205+50530A>T) c.5913A>T (p.Ser1971=) | |
| 11 | g.103184950C>A | CA382248916 | DYNC2H1 | c.6532C>A (p.His2178Asn) c.*4077C>A (n.*4077C>A) c.2205+50531C>A (n.2205+50531C>A) c.5914C>A (p.His1972Asn) | |
| 11 | g.103184950C= | CA1996418742 | DYNC2H1 | c.6532C= (p.His2178=) c.*4077C= (n.*4077C=) c.2205+50531C= (n.2205+50531C=) c.5914C= (p.His1972=) | |
| 11 | g.103184950C>G | CA382248917 | DYNC2H1 | c.6532C>G (p.His2178Asp) c.*4077C>G (n.*4077C>G) c.2205+50531C>G (n.2205+50531C>G) c.5914C>G (p.His1972Asp) | |
| 11 | g.103184950C>T | CA382248918 | DYNC2H1 | c.6532C>T (p.His2178Tyr) c.*4077C>T (n.*4077C>T) c.2205+50531C>T (n.2205+50531C>T) c.5914C>T (p.His1972Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103184951A>C | CA382248919 | DYNC2H1 | c.6533A>C (p.His2178Pro) c.*4078A>C (n.*4078A>C) c.2205+50532A>C (n.2205+50532A>C) c.5915A>C (p.His1972Pro) | |
| 11 | g.103184951A>G | CA382248920 | DYNC2H1 | c.6533A>G (p.His2178Arg) c.*4078A>G (n.*4078A>G) c.2205+50532A>G (n.2205+50532A>G) c.5915A>G (p.His1972Arg) | |
| 11 | g.103184951A>T | CA382248921 | DYNC2H1 | c.6533A>T (p.His2178Leu) c.*4078A>T (n.*4078A>T) c.2205+50532A>T (n.2205+50532A>T) c.5915A>T (p.His1972Leu) | |
| 11 | g.103184952T>A | CA382248922 | DYNC2H1 | c.6534T>A (p.His2178Gln) c.*4079T>A (n.*4079T>A) c.2205+50533T>A (n.2205+50533T>A) c.5916T>A (p.His1972Gln) | |
| 11 | g.103184952T>C | CA476609756 | DYNC2H1 | c.6534T>C (p.His2178=) c.*4079T>C (n.*4079T>C) c.2205+50533T>C (n.2205+50533T>C) c.5916T>C (p.His1972=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103184952T>G | CA6253996 | DYNC2H1 | c.6534T>G (p.His2178Gln) c.*4079T>G (n.*4079T>G) c.2205+50533T>G (n.2205+50533T>G) c.5916T>G (p.His1972Gln) | dbSNP ExAC gnomAD v2 |
| 11 | g.103184952T= | CA1996418743 | DYNC2H1 | c.6534T= (p.His2178=) c.*4079T= (n.*4079T=) c.2205+50533T= (n.2205+50533T=) c.5916T= (p.His1972=) | |
| 11 | g.103184953C>A | CA382248923 | DYNC2H1 | c.6535C>A (p.Leu2179Ile) c.*4080C>A (n.*4080C>A) c.2205+50534C>A (n.2205+50534C>A) c.5917C>A (p.Leu1973Ile) | |
| 11 | g.103184953C>G | CA382248924 | DYNC2H1 | c.6535C>G (p.Leu2179Val) c.*4080C>G (n.*4080C>G) c.2205+50534C>G (n.2205+50534C>G) c.5917C>G (p.Leu1973Val) | |
| 11 | g.103184953C>T | CA476609758 | DYNC2H1 | c.6535C>T (p.Leu2179=) c.*4080C>T (n.*4080C>T) c.2205+50534C>T (n.2205+50534C>T) c.5917C>T (p.Leu1973=) | |
| 11 | g.103184954T>A | CA382248925 | DYNC2H1 | c.6536T>A (p.Leu2179Gln) c.*4081T>A (n.*4081T>A) c.2205+50535T>A (n.2205+50535T>A) c.5918T>A (p.Leu1973Gln) | |
| 11 | g.103184954T>C | CA382248926 | DYNC2H1 | c.6536T>C (p.Leu2179Pro) c.*4081T>C (n.*4081T>C) c.2205+50535T>C (n.2205+50535T>C) c.5918T>C (p.Leu1973Pro) | gnomAD v4 |
| 11 | g.103184954T>G | CA382248927 | DYNC2H1 | c.6536T>G (p.Leu2179Arg) c.*4081T>G (n.*4081T>G) c.2205+50535T>G (n.2205+50535T>G) c.5918T>G (p.Leu1973Arg) | |
| 11 | g.103184955A= | CA1996418744 | DYNC2H1 | c.6537A= (p.Leu2179=) c.*4082A= (n.*4082A=) c.2205+50536A= (n.2205+50536A=) c.5919A= (p.Leu1973=) | |
| 11 | g.103184955A>C | CA476609759 | DYNC2H1 | c.6537A>C (p.Leu2179=) c.*4082A>C (n.*4082A>C) c.2205+50536A>C (n.2205+50536A>C) c.5919A>C (p.Leu1973=) | |
| 11 | g.103184955A>G | CA476609760 | DYNC2H1 | c.6537A>G (p.Leu2179=) c.*4082A>G (n.*4082A>G) c.2205+50536A>G (n.2205+50536A>G) c.5919A>G (p.Leu1973=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103184955A>T | CA476609761 | DYNC2H1 | c.6537A>T (p.Leu2179=) c.*4082A>T (n.*4082A>T) c.2205+50536A>T (n.2205+50536A>T) c.5919A>T (p.Leu1973=) | |
| 11 | g.103184956C>A | CA382248928 | DYNC2H1 | c.6538C>A (p.His2180Asn) c.*4083C>A (n.*4083C>A) c.2205+50537C>A (n.2205+50537C>A) c.5920C>A (p.His1974Asn) | |
| 11 | g.103184956C>G | CA382248929 | DYNC2H1 | c.6538C>G (p.His2180Asp) c.*4083C>G (n.*4083C>G) c.2205+50537C>G (n.2205+50537C>G) c.5920C>G (p.His1974Asp) | |
| 11 | g.103184956C>T | CA382248930 | DYNC2H1 | c.6538C>T (p.His2180Tyr) c.*4083C>T (n.*4083C>T) c.2205+50537C>T (n.2205+50537C>T) c.5920C>T (p.His1974Tyr) | |
| 11 | g.103184957A= | CA1996418745 | DYNC2H1 | c.6539A= (p.His2180=) c.*4084A= (n.*4084A=) c.2205+50538A= (n.2205+50538A=) c.5921A= (p.His1974=) | |
| 11 | g.103184957A>C | CA382248931 | DYNC2H1 | c.6539A>C (p.His2180Pro) c.*4084A>C (n.*4084A>C) c.2205+50538A>C (n.2205+50538A>C) c.5921A>C (p.His1974Pro) | dbSNP |
| 11 | g.103184957A>G | CA382248932 | DYNC2H1 | c.6539A>G (p.His2180Arg) c.*4084A>G (n.*4084A>G) c.2205+50538A>G (n.2205+50538A>G) c.5921A>G (p.His1974Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103184957A>T | CA382248933 | DYNC2H1 | c.6539A>T (p.His2180Leu) c.*4084A>T (n.*4084A>T) c.2205+50538A>T (n.2205+50538A>T) c.5921A>T (p.His1974Leu) | gnomAD v4 |
| 11 | g.103184958T>A | CA382248934 | DYNC2H1 | c.6540T>A (p.His2180Gln) c.*4085T>A (n.*4085T>A) c.2205+50539T>A (n.2205+50539T>A) c.5922T>A (p.His1974Gln) | |
| 11 | g.103184958T>C | CA476609762 | DYNC2H1 | c.6540T>C (p.His2180=) c.*4085T>C (n.*4085T>C) c.2205+50539T>C (n.2205+50539T>C) c.5922T>C (p.His1974=) | |
| 11 | g.103184958T>G | CA382248935 | DYNC2H1 | c.6540T>G (p.His2180Gln) c.*4085T>G (n.*4085T>G) c.2205+50539T>G (n.2205+50539T>G) c.5922T>G (p.His1974Gln) | |
| 11 | g.103184959G>A | CA382248938 | DYNC2H1 | c.6541G>A (p.Gly2181Ser) c.*4086G>A (n.*4086G>A) c.2205+50540G>A (n.2205+50540G>A) c.5923G>A (p.Gly1975Ser) | |
| 11 | g.103184959G>C | CA382248937 | DYNC2H1 | c.6541G>C (p.Gly2181Arg) c.*4086G>C (n.*4086G>C) c.2205+50540G>C (n.2205+50540G>C) c.5923G>C (p.Gly1975Arg) | |
| 11 | g.103184959G>T | CA382248936 | DYNC2H1 | c.6541G>T (p.Gly2181Cys) c.*4086G>T (n.*4086G>T) c.2205+50540G>T (n.2205+50540G>T) c.5923G>T (p.Gly1975Cys) | gnomAD v4 |
| 11 | g.103184960G>A | CA382248939 | DYNC2H1 | c.6542G>A (p.Gly2181Asp) c.*4087G>A (n.*4087G>A) c.2205+50541G>A (n.2205+50541G>A) c.5924G>A (p.Gly1975Asp) | gnomAD v4 |
| 11 | g.103184960G>C | CA382248940 | DYNC2H1 | c.6542G>C (p.Gly2181Ala) c.*4087G>C (n.*4087G>C) c.2205+50541G>C (n.2205+50541G>C) c.5924G>C (p.Gly1975Ala) | gnomAD v4 |
| 11 | g.103184960G= | CA1996418746 | DYNC2H1 | c.6542G= (p.Gly2181=) c.*4087G= (n.*4087G=) c.2205+50541G= (n.2205+50541G=) c.5924G= (p.Gly1975=) | |
| 11 | g.103184960G>T | CA6253997 | DYNC2H1 | c.6542G>T (p.Gly2181Val) c.*4087G>T (n.*4087G>T) c.2205+50541G>T (n.2205+50541G>T) c.5924G>T (p.Gly1975Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184961T>A | CA476609765 | DYNC2H1 | c.6543T>A (p.Gly2181=) c.*4088T>A (n.*4088T>A) c.2205+50542T>A (n.2205+50542T>A) c.5925T>A (p.Gly1975=) | |
| 11 | g.103184961T>C | CA476609766 | DYNC2H1 | c.6543T>C (p.Gly2181=) c.*4088T>C (n.*4088T>C) c.2205+50542T>C (n.2205+50542T>C) c.5925T>C (p.Gly1975=) | ClinVar dbSNP |
| 11 | g.103184961T>G | CA476609767 | DYNC2H1 | c.6543T>G (p.Gly2181=) c.*4088T>G (n.*4088T>G) c.2205+50542T>G (n.2205+50542T>G) c.5925T>G (p.Gly1975=) | |
| 11 | g.103184961T= | CA1996418747 | DYNC2H1 | c.6543T= (p.Gly2181=) c.*4088T= (n.*4088T=) c.2205+50542T= (n.2205+50542T=) c.5925T= (p.Gly1975=) | |
| 11 | g.103184962T>A | CA382248941 | DYNC2H1 | c.6544T>A (p.Cys2182Ser) c.*4089T>A (n.*4089T>A) c.2205+50543T>A (n.2205+50543T>A) c.5926T>A (p.Cys1976Ser) | |
| 11 | g.103184962T>C | CA382248942 | DYNC2H1 | c.6544T>C (p.Cys2182Arg) c.*4089T>C (n.*4089T>C) c.2205+50543T>C (n.2205+50543T>C) c.5926T>C (p.Cys1976Arg) | |
| 11 | g.103184962T>G | CA382248943 | DYNC2H1 | c.6544T>G (p.Cys2182Gly) c.*4089T>G (n.*4089T>G) c.2205+50543T>G (n.2205+50543T>G) c.5926T>G (p.Cys1976Gly) | |
| 11 | g.103184963G>A | CA6253998 | DYNC2H1 | c.6545G>A (p.Cys2182Tyr) c.*4090G>A (n.*4090G>A) c.2205+50544G>A (n.2205+50544G>A) c.5927G>A (p.Cys1976Tyr) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.103184963G>C | CA382248944 | DYNC2H1 | c.6545G>C (p.Cys2182Ser) c.*4090G>C (n.*4090G>C) c.2205+50544G>C (n.2205+50544G>C) c.5927G>C (p.Cys1976Ser) | |
| 11 | g.103184963G= | CA1996418748 | DYNC2H1 | c.6545G= (p.Cys2182=) c.*4090G= (n.*4090G=) c.2205+50544G= (n.2205+50544G=) c.5927G= (p.Cys1976=) | |
| 11 | g.103184963G>T | CA382248945 | DYNC2H1 | c.6545G>T (p.Cys2182Phe) c.*4090G>T (n.*4090G>T) c.2205+50544G>T (n.2205+50544G>T) c.5927G>T (p.Cys1976Phe) | gnomAD v4 |
| 11 | g.103184964C>A | CA382248946 | DYNC2H1 | c.6546C>A (p.Cys2182Ter) c.*4091C>A (n.*4091C>A) c.2205+50545C>A (n.2205+50545C>A) c.5928C>A (p.Cys1976Ter) | |
| 11 | g.103184964C= | CA1996418749 | DYNC2H1 | c.6546C= (p.Cys2182=) c.*4091C= (n.*4091C=) c.2205+50545C= (n.2205+50545C=) c.5928C= (p.Cys1976=) | |
| 11 | g.103184964C>G | CA382248947 | DYNC2H1 | c.6546C>G (p.Cys2182Trp) c.*4091C>G (n.*4091C>G) c.2205+50545C>G (n.2205+50545C>G) c.5928C>G (p.Cys1976Trp) | |
| 11 | g.103184964C>T | CA6253999 | DYNC2H1 | c.6546C>T (p.Cys2182=) c.*4091C>T (n.*4091C>T) c.2205+50545C>T (n.2205+50545C>T) c.5928C>T (p.Cys1976=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184965A>C | CA476609768 | DYNC2H1 | c.6547A>C (p.Arg2183=) c.*4092A>C (n.*4092A>C) c.2205+50546A>C (n.2205+50546A>C) c.5929A>C (p.Arg1977=) | |
| 11 | g.103184965A>G | CA382248948 | DYNC2H1 | c.6547A>G (p.Arg2183Gly) c.*4092A>G (n.*4092A>G) c.2205+50546A>G (n.2205+50546A>G) c.5929A>G (p.Arg1977Gly) | dbSNP |
| 11 | g.103184965A>T | CA382248949 | DYNC2H1 | c.6547A>T (p.Arg2183Ter) c.*4092A>T (n.*4092A>T) c.2205+50546A>T (n.2205+50546A>T) c.5929A>T (p.Arg1977Ter) | |
| 11 | g.103184966G>A | CA382248951 | DYNC2H1 | c.6548G>A (p.Arg2183Lys) c.*4093G>A (n.*4093G>A) c.2205+50547G>A (n.2205+50547G>A) c.5930G>A (p.Arg1977Lys) | COSMIC |
| 11 | g.103184966G>C | CA382248952 | DYNC2H1 | c.6548G>C (p.Arg2183Thr) c.*4093G>C (n.*4093G>C) c.2205+50547G>C (n.2205+50547G>C) c.5930G>C (p.Arg1977Thr) | |
| 11 | g.103184966G>T | CA382248950 | DYNC2H1 | c.6548G>T (p.Arg2183Ile) c.*4093G>T (n.*4093G>T) c.2205+50547G>T (n.2205+50547G>T) c.5930G>T (p.Arg1977Ile) | |
| 11 | g.103184967A>C | CA382248953 | DYNC2H1 | c.6549A>C (p.Arg2183Ser) c.*4094A>C (n.*4094A>C) c.2205+50548A>C (n.2205+50548A>C) c.5931A>C (p.Arg1977Ser) | |
| 11 | g.103184967A>G | CA476609770 | DYNC2H1 | c.6549A>G (p.Arg2183=) c.*4094A>G (n.*4094A>G) c.2205+50548A>G (n.2205+50548A>G) c.5931A>G (p.Arg1977=) | |
| 11 | g.103184967A>T | CA382248954 | DYNC2H1 | c.6549A>T (p.Arg2183Ser) c.*4094A>T (n.*4094A>T) c.2205+50548A>T (n.2205+50548A>T) c.5931A>T (p.Arg1977Ser) | |
| 11 | g.103184968G>A | CA6254000 | DYNC2H1 | c.6550G>A (p.Asp2184Asn) c.*4095G>A (n.*4095G>A) c.2205+50549G>A (n.2205+50549G>A) c.5932G>A (p.Asp1978Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184968G>C | CA382248955 | DYNC2H1 | c.6550G>C (p.Asp2184His) c.*4095G>C (n.*4095G>C) c.2205+50549G>C (n.2205+50549G>C) c.5932G>C (p.Asp1978His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103184968G= | CA1996418750 | DYNC2H1 | c.6550G= (p.Asp2184=) c.*4095G= (n.*4095G=) c.2205+50549G= (n.2205+50549G=) c.5932G= (p.Asp1978=) | |
| 11 | g.103184968G>T | CA382248956 | DYNC2H1 | c.6550G>T (p.Asp2184Tyr) c.*4095G>T (n.*4095G>T) c.2205+50549G>T (n.2205+50549G>T) c.5932G>T (p.Asp1978Tyr) | |
| 11 | g.103184969A= | CA1996418751 | DYNC2H1 | c.6551A= (p.Asp2184=) c.*4096A= (n.*4096A=) c.2205+50550A= (n.2205+50550A=) c.5933A= (p.Asp1978=) | |
| 11 | g.103184969A>C | CA382248957 | DYNC2H1 | c.6551A>C (p.Asp2184Ala) c.*4096A>C (n.*4096A>C) c.2205+50550A>C (n.2205+50550A>C) c.5933A>C (p.Asp1978Ala) | |
| 11 | g.103184969A>G | CA382248958 | DYNC2H1 | c.6551A>G (p.Asp2184Gly) c.*4096A>G (n.*4096A>G) c.2205+50550A>G (n.2205+50550A>G) c.5933A>G (p.Asp1978Gly) | |
| 11 | g.103184969A>T | CA6254001 | DYNC2H1 | c.6551A>T (p.Asp2184Val) c.*4096A>T (n.*4096A>T) c.2205+50550A>T (n.2205+50550A>T) c.5933A>T (p.Asp1978Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184970T>A | CA382248959 | DYNC2H1 | c.6552T>A (p.Asp2184Glu) c.*4097T>A (n.*4097T>A) c.2205+50551T>A (n.2205+50551T>A) c.5934T>A (p.Asp1978Glu) | |
| 11 | g.103184970T>C | CA476609771 | DYNC2H1 | c.6552T>C (p.Asp2184=) c.*4097T>C (n.*4097T>C) c.2205+50551T>C (n.2205+50551T>C) c.5934T>C (p.Asp1978=) | gnomAD v4 |
| 11 | g.103184970T>G | CA382248960 | DYNC2H1 | c.6552T>G (p.Asp2184Glu) c.*4097T>G (n.*4097T>G) c.2205+50551T>G (n.2205+50551T>G) c.5934T>G (p.Asp1978Glu) | |
| 11 | g.103184971C>A | CA382248961 | DYNC2H1 | c.6553C>A (p.His2185Asn) c.*4098C>A (n.*4098C>A) c.2205+50552C>A (n.2205+50552C>A) c.5935C>A (p.His1979Asn) | |
| 11 | g.103184971C>G | CA382248962 | DYNC2H1 | c.6553C>G (p.His2185Asp) c.*4098C>G (n.*4098C>G) c.2205+50552C>G (n.2205+50552C>G) c.5935C>G (p.His1979Asp) | |
| 11 | g.103184971C>T | CA382248963 | DYNC2H1 | c.6553C>T (p.His2185Tyr) c.*4098C>T (n.*4098C>T) c.2205+50552C>T (n.2205+50552C>T) c.5935C>T (p.His1979Tyr) | COSMIC COSMIC |
| 11 | g.103184972A= | CA1996418752 | DYNC2H1 | c.6554A= (p.His2185=) c.*4099A= (n.*4099A=) c.2205+50553A= (n.2205+50553A=) c.5936A= (p.His1979=) | |
| 11 | g.103184972A>C | CA382248966 | DYNC2H1 | c.6554A>C (p.His2185Pro) c.*4099A>C (n.*4099A>C) c.2205+50553A>C (n.2205+50553A>C) c.5936A>C (p.His1979Pro) | |
| 11 | g.103184972A>G | CA382248964 | DYNC2H1 | c.6554A>G (p.His2185Arg) c.*4099A>G (n.*4099A>G) c.2205+50553A>G (n.2205+50553A>G) c.5936A>G (p.His1979Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184972A>T | CA382248965 | DYNC2H1 | c.6554A>T (p.His2185Leu) c.*4099A>T (n.*4099A>T) c.2205+50553A>T (n.2205+50553A>T) c.5936A>T (p.His1979Leu) | |
| 11 | g.103184973T>A | CA382248967 | DYNC2H1 | c.6555T>A (p.His2185Gln) c.*4100T>A (n.*4100T>A) c.2205+50554T>A (n.2205+50554T>A) c.5937T>A (p.His1979Gln) | |
| 11 | g.103184973T>C | CA476609772 | DYNC2H1 | c.6555T>C (p.His2185=) c.*4100T>C (n.*4100T>C) c.2205+50554T>C (n.2205+50554T>C) c.5937T>C (p.His1979=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184973T>G | CA382248968 | DYNC2H1 | c.6555T>G (p.His2185Gln) c.*4100T>G (n.*4100T>G) c.2205+50554T>G (n.2205+50554T>G) c.5937T>G (p.His1979Gln) | |
| 11 | g.103184973T= | CA1996418753 | DYNC2H1 | c.6555T= (p.His2185=) c.*4100T= (n.*4100T=) c.2205+50554T= (n.2205+50554T=) c.5937T= (p.His1979=) | |
| 11 | g.103184974G>A | CA382248969 | DYNC2H1 | c.6556G>A (p.Asp2186Asn) c.*4101G>A (n.*4101G>A) c.2205+50555G>A (n.2205+50555G>A) c.5938G>A (p.Asp1980Asn) | |
| 11 | g.103184974G>C | CA382248970 | DYNC2H1 | c.6556G>C (p.Asp2186His) c.*4101G>C (n.*4101G>C) c.2205+50555G>C (n.2205+50555G>C) c.5938G>C (p.Asp1980His) | |
| 11 | g.103184974G>T | CA382248971 | DYNC2H1 | c.6556G>T (p.Asp2186Tyr) c.*4101G>T (n.*4101G>T) c.2205+50555G>T (n.2205+50555G>T) c.5938G>T (p.Asp1980Tyr) | |
| 11 | g.103184975A>C | CA382248972 | DYNC2H1 | c.6557A>C (p.Asp2186Ala) c.*4102A>C (n.*4102A>C) c.2205+50556A>C (n.2205+50556A>C) c.5939A>C (p.Asp1980Ala) | |
| 11 | g.103184975A>G | CA382248973 | DYNC2H1 | c.6557A>G (p.Asp2186Gly) c.*4102A>G (n.*4102A>G) c.2205+50556A>G (n.2205+50556A>G) c.5939A>G (p.Asp1980Gly) | |
| 11 | g.103184975A>T | CA382248974 | DYNC2H1 | c.6557A>T (p.Asp2186Val) c.*4102A>T (n.*4102A>T) c.2205+50556A>T (n.2205+50556A>T) c.5939A>T (p.Asp1980Val) | |
| 11 | g.103184976C>A | CA6254003 | DYNC2H1 | c.6558C>A (p.Asp2186Glu) c.*4103C>A (n.*4103C>A) c.2205+50557C>A (n.2205+50557C>A) c.5940C>A (p.Asp1980Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184976C= | CA1996418754 | DYNC2H1 | c.6558C= (p.Asp2186=) c.*4103C= (n.*4103C=) c.2205+50557C= (n.2205+50557C=) c.5940C= (p.Asp1980=) | |
| 11 | g.103184976C>G | CA382248975 | DYNC2H1 | c.6558C>G (p.Asp2186Glu) c.*4103C>G (n.*4103C>G) c.2205+50557C>G (n.2205+50557C>G) c.5940C>G (p.Asp1980Glu) | |
| 11 | g.103184976C>T | CA6254002 | DYNC2H1 | c.6558C>T (p.Asp2186=) c.*4103C>T (n.*4103C>T) c.2205+50557C>T (n.2205+50557C>T) c.5940C>T (p.Asp1980=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103184977G>A | CA6254004 | DYNC2H1 | c.6559G>A (p.Glu2187Lys) c.*4104G>A (n.*4104G>A) c.2205+50558G>A (n.2205+50558G>A) c.5941G>A (p.Glu1981Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184977G>C | CA382248977 | DYNC2H1 | c.6559G>C (p.Glu2187Gln) c.*4104G>C (n.*4104G>C) c.2205+50558G>C (n.2205+50558G>C) c.5941G>C (p.Glu1981Gln) | |
| 11 | g.103184977G= | CA1996418755 | DYNC2H1 | c.6559G= (p.Glu2187=) c.*4104G= (n.*4104G=) c.2205+50558G= (n.2205+50558G=) c.5941G= (p.Glu1981=) | |
| 11 | g.103184977G>T | CA382248976 | DYNC2H1 | c.6559G>T (p.Glu2187Ter) c.*4104G>T (n.*4104G>T) c.2205+50558G>T (n.2205+50558G>T) c.5941G>T (p.Glu1981Ter) | gnomAD v4 |
| 11 | g.103184978A= | CA1996418756 | DYNC2H1 | c.6560A= (p.Glu2187=) c.*4105A= (n.*4105A=) c.2205+50559A= (n.2205+50559A=) c.5942A= (p.Glu1981=) | |
| 11 | g.103184978A>C | CA382248978 | DYNC2H1 | c.6560A>C (p.Glu2187Ala) c.*4105A>C (n.*4105A>C) c.2205+50559A>C (n.2205+50559A>C) c.5942A>C (p.Glu1981Ala) | |
| 11 | g.103184978A>G | CA6254005 | DYNC2H1 | c.6560A>G (p.Glu2187Gly) c.*4105A>G (n.*4105A>G) c.2205+50559A>G (n.2205+50559A>G) c.5942A>G (p.Glu1981Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103184978A>T | CA382248979 | DYNC2H1 | c.6560A>T (p.Glu2187Val) c.*4105A>T (n.*4105A>T) c.2205+50559A>T (n.2205+50559A>T) c.5942A>T (p.Glu1981Val) | |
| 11 | g.103184979A>C | CA382248980 | DYNC2H1 | c.6561A>C (p.Glu2187Asp) c.*4106A>C (n.*4106A>C) c.2205+50560A>C (n.2205+50560A>C) c.5943A>C (p.Glu1981Asp) | |
| 11 | g.103184979A>G | CA476609773 | DYNC2H1 | c.6561A>G (p.Glu2187=) c.*4106A>G (n.*4106A>G) c.2205+50560A>G (n.2205+50560A>G) c.5943A>G (p.Glu1981=) | |
| 11 | g.103184979A>T | CA382248981 | DYNC2H1 | c.6561A>T (p.Glu2187Asp) c.*4106A>T (n.*4106A>T) c.2205+50560A>T (n.2205+50560A>T) c.5943A>T (p.Glu1981Asp) | |
| 11 | g.103184980T>A | CA382248982 | DYNC2H1 | c.6562T>A (p.Phe2188Ile) c.*4107T>A (n.*4107T>A) c.2205+50561T>A (n.2205+50561T>A) c.5944T>A (p.Phe1982Ile) | |
| 11 | g.103184980T>C | CA382248983 | DYNC2H1 | c.6562T>C (p.Phe2188Leu) c.*4107T>C (n.*4107T>C) c.2205+50561T>C (n.2205+50561T>C) c.5944T>C (p.Phe1982Leu) | ClinVar dbSNP |
| 11 | g.103184980T>G | CA382248984 | DYNC2H1 | c.6562T>G (p.Phe2188Val) c.*4107T>G (n.*4107T>G) c.2205+50561T>G (n.2205+50561T>G) c.5944T>G (p.Phe1982Val) | |
| 11 | g.103184980T= | CA1996418757 | DYNC2H1 | c.6562T= (p.Phe2188=) c.*4107T= (n.*4107T=) c.2205+50561T= (n.2205+50561T=) c.5944T= (p.Phe1982=) | |
| 11 | g.103184981T>A | CA382248985 | DYNC2H1 | c.6563T>A (p.Phe2188Tyr) c.*4108T>A (n.*4108T>A) c.2205+50562T>A (n.2205+50562T>A) c.5945T>A (p.Phe1982Tyr) | |
| 11 | g.103184981T>C | CA382248986 | DYNC2H1 | c.6563T>C (p.Phe2188Ser) c.*4108T>C (n.*4108T>C) c.2205+50562T>C (n.2205+50562T>C) c.5945T>C (p.Phe1982Ser) | |
| 11 | g.103184981T>G | CA382248987 | DYNC2H1 | c.6563T>G (p.Phe2188Cys) c.*4108T>G (n.*4108T>G) c.2205+50562T>G (n.2205+50562T>G) c.5945T>G (p.Phe1982Cys) | gnomAD v4 |
| 11 | g.103184982C>A | CA382248988 | DYNC2H1 | c.6564C>A (p.Phe2188Leu) c.*4109C>A (n.*4109C>A) c.2205+50563C>A (n.2205+50563C>A) c.5946C>A (p.Phe1982Leu) | |
| 11 | g.103184982C>G | CA382248989 | DYNC2H1 | c.6564C>G (p.Phe2188Leu) c.*4109C>G (n.*4109C>G) c.2205+50563C>G (n.2205+50563C>G) c.5946C>G (p.Phe1982Leu) | |
| 11 | g.103184982C>T | CA476609774 | DYNC2H1 | c.6564C>T (p.Phe2188=) c.*4109C>T (n.*4109C>T) c.2205+50563C>T (n.2205+50563C>T) c.5946C>T (p.Phe1982=) | |
| 11 | g.103184983A= | CA1996418758 | DYNC2H1 | c.6565A= (p.Ile2189=) c.*4110A= (n.*4110A=) c.2205+50564A= (n.2205+50564A=) c.5947A= (p.Ile1983=) | |
| 11 | g.103184983A>C | CA382248990 | DYNC2H1 | c.6565A>C (p.Ile2189Leu) c.*4110A>C (n.*4110A>C) c.2205+50564A>C (n.2205+50564A>C) c.5947A>C (p.Ile1983Leu) | |
| 11 | g.103184983A>G | CA6254006 | DYNC2H1 | c.6565A>G (p.Ile2189Val) c.*4110A>G (n.*4110A>G) c.2205+50564A>G (n.2205+50564A>G) c.5947A>G (p.Ile1983Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103184983A>T | CA382248991 | DYNC2H1 | c.6565A>T (p.Ile2189Phe) c.*4110A>T (n.*4110A>T) c.2205+50564A>T (n.2205+50564A>T) c.5947A>T (p.Ile1983Phe) | |
| 11 | g.103184983_103184984delinsAT | CA1996418759 | DYNC2H1 | c.6565_6566delinsAT (p.Ile2189=) c.*4110_*4111delinsAT (n.*4110_*4111delinsAT) c.2205+50564_2205+50565delinsAT (n.2205+50564_2205+50565delinsAT) c.5947_5948delinsAT (p.Ile1983=) | |
| 11 | g.103184984T>A | CA382248992 | DYNC2H1 | c.6566T>A (p.Ile2189Asn) c.*4111T>A (n.*4111T>A) c.2205+50565T>A (n.2205+50565T>A) c.5948T>A (p.Ile1983Asn) | |
| 11 | g.103184984T>C | CA382248993 | DYNC2H1 | c.6566T>C (p.Ile2189Thr) c.*4111T>C (n.*4111T>C) c.2205+50565T>C (n.2205+50565T>C) c.5948T>C (p.Ile1983Thr) | |
| 11 | g.103184984T>G | CA382248994 | DYNC2H1 | c.6566T>G (p.Ile2189Ser) c.*4111T>G (n.*4111T>G) c.2205+50565T>G (n.2205+50565T>G) c.5948T>G (p.Ile1983Ser) | |
| 11 | g.103184985del | CA1996418760 | DYNC2H1 | c.6567del (p.Ile2190LeufsTer4) c.*4112del (n.*4112del) c.2205+50566del (n.2205+50566del) c.5949del (p.Ile1984LeufsTer4) | dbSNP |
| 11 | g.103184984_103184985insCCTAA | CA2558228143 | DYNC2H1 | c.6566_6567insCCTAA (p.Ile2190LeufsTer6) c.*4111_*4112insCCTAA (n.*4111_*4112insCCTAA) c.2205+50565_2205+50566insCCTAA (n.2205+50565_2205+50566insCCTAA) c.5948_5949insCCTAA (p.Ile1984LeufsTer6) | |
| 11 | g.103184985T>A | CA476609775 | DYNC2H1 | c.6567T>A (p.Ile2189=) c.*4112T>A (n.*4112T>A) c.2205+50566T>A (n.2205+50566T>A) c.5949T>A (p.Ile1983=) | |
| 11 | g.103184985T>C | CA476609776 | DYNC2H1 | c.6567T>C (p.Ile2189=) c.*4112T>C (n.*4112T>C) c.2205+50566T>C (n.2205+50566T>C) c.5949T>C (p.Ile1983=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103184985T>G | CA382248995 | DYNC2H1 | c.6567T>G (p.Ile2189Met) c.*4112T>G (n.*4112T>G) c.2205+50566T>G (n.2205+50566T>G) c.5949T>G (p.Ile1983Met) | gnomAD v4 |
| 11 | g.103184985T= | CA1996418761 | DYNC2H1 | c.6567T= (p.Ile2189=) c.*4112T= (n.*4112T=) c.2205+50566T= (n.2205+50566T=) c.5949T= (p.Ile1983=) | |
| 11 | g.103184986A= | CA1996418762 | DYNC2H1 | c.6568A= (p.Ile2190=) c.*4113A= (n.*4113A=) c.2205+50567A= (n.2205+50567A=) c.5950A= (p.Ile1984=) | |
| 11 | g.103184986A>C | CA382248998 | DYNC2H1 | c.6568A>C (p.Ile2190Leu) c.*4113A>C (n.*4113A>C) c.2205+50567A>C (n.2205+50567A>C) c.5950A>C (p.Ile1984Leu) | |
| 11 | g.103184986A>G | CA382248996 | DYNC2H1 | c.6568A>G (p.Ile2190Val) c.*4113A>G (n.*4113A>G) c.2205+50567A>G (n.2205+50567A>G) c.5950A>G (p.Ile1984Val) | |
| 11 | g.103184986A>T | CA382248997 | DYNC2H1 | c.6568A>T (p.Ile2190Phe) c.*4113A>T (n.*4113A>T) c.2205+50567A>T (n.2205+50567A>T) c.5950A>T (p.Ile1984Phe) | dbSNP |
| 11 | g.103184987T>A | CA382248999 | DYNC2H1 | c.6569T>A (p.Ile2190Asn) c.*4114T>A (n.*4114T>A) c.2205+50568T>A (n.2205+50568T>A) c.5951T>A (p.Ile1984Asn) | |
| 11 | g.103184987T>C | CA382249000 | DYNC2H1 | c.6569T>C (p.Ile2190Thr) c.*4114T>C (n.*4114T>C) c.2205+50568T>C (n.2205+50568T>C) c.5951T>C (p.Ile1984Thr) | |
| 11 | g.103184987T>G | CA382249001 | DYNC2H1 | c.6569T>G (p.Ile2190Ser) c.*4114T>G (n.*4114T>G) c.2205+50568T>G (n.2205+50568T>G) c.5951T>G (p.Ile1984Ser) | |
| 11 | g.103184988T>A | CA476609777 | DYNC2H1 | c.6570T>A (p.Ile2190=) c.*4115T>A (n.*4115T>A) c.2205+50569T>A (n.2205+50569T>A) c.5952T>A (p.Ile1984=) | |
| 11 | g.103184988T>C | CA476609778 | DYNC2H1 | c.6570T>C (p.Ile2190=) c.*4115T>C (n.*4115T>C) c.2205+50569T>C (n.2205+50569T>C) c.5952T>C (p.Ile1984=) | |
| 11 | g.103184988T>G | CA382249002 | DYNC2H1 | c.6570T>G (p.Ile2190Met) c.*4115T>G (n.*4115T>G) c.2205+50569T>G (n.2205+50569T>G) c.5952T>G (p.Ile1984Met) | |
| 11 | g.103184988_103184989insCCC | CA2533968842 | DYNC2H1 | c.6570_6571insCCC (p.Ile2190_Asn2191insPro) c.*4115_*4116insCCC (n.*4115_*4116insCCC) c.2205+50569_2205+50570insCCC (n.2205+50569_2205+50570insCCC) c.5952_5953insCCC (p.Ile1984_Asn1985insPro) | |
| 11 | g.103184989A>C | CA382249005 | DYNC2H1 | c.6571A>C (p.Asn2191His) c.*4116A>C (n.*4116A>C) c.2205+50570A>C (n.2205+50570A>C) c.5953A>C (p.Asn1985His) | |
| 11 | g.103184989A>G | CA382249003 | DYNC2H1 | c.6571A>G (p.Asn2191Asp) c.*4116A>G (n.*4116A>G) c.2205+50570A>G (n.2205+50570A>G) c.5953A>G (p.Asn1985Asp) | |
| 11 | g.103184989A>T | CA382249004 | DYNC2H1 | c.6571A>T (p.Asn2191Tyr) c.*4116A>T (n.*4116A>T) c.2205+50570A>T (n.2205+50570A>T) c.5953A>T (p.Asn1985Tyr) | |
| 11 | g.103184990A>C | CA382249006 | DYNC2H1 | c.6572A>C (p.Asn2191Thr) c.*4117A>C (n.*4117A>C) c.2205+50571A>C (n.2205+50571A>C) c.5954A>C (p.Asn1985Thr) | |
| 11 | g.103184990A>G | CA382249007 | DYNC2H1 | c.6572A>G (p.Asn2191Ser) c.*4117A>G (n.*4117A>G) c.2205+50571A>G (n.2205+50571A>G) c.5954A>G (p.Asn1985Ser) | gnomAD v4 |
| 11 | g.103184990A>T | CA382249008 | DYNC2H1 | c.6572A>T (p.Asn2191Ile) c.*4117A>T (n.*4117A>T) c.2205+50571A>T (n.2205+50571A>T) c.5954A>T (p.Asn1985Ile) | |
| 11 | g.103184991T>A | CA382249009 | DYNC2H1 | c.6573T>A (p.Asn2191Lys) c.*4118T>A (n.*4118T>A) c.2205+50572T>A (n.2205+50572T>A) c.5955T>A (p.Asn1985Lys) | |
| 11 | g.103184991T>C | CA476609779 | DYNC2H1 | c.6573T>C (p.Asn2191=) c.*4118T>C (n.*4118T>C) c.2205+50572T>C (n.2205+50572T>C) c.5955T>C (p.Asn1985=) | |
| 11 | g.103184991T>G | CA382249010 | DYNC2H1 | c.6573T>G (p.Asn2191Lys) c.*4118T>G (n.*4118T>G) c.2205+50572T>G (n.2205+50572T>G) c.5955T>G (p.Asn1985Lys) | |
| 11 | g.103184992del | CA2525325459 | DYNC2H1 | c.6574del (p.Leu2192SerfsTer2) c.*4119del (n.*4119del) c.2205+50573del (n.2205+50573del) c.5956del (p.Leu1986SerfsTer2) | |
| 11 | g.103184992C>A | CA382249011 | DYNC2H1 | c.6574C>A (p.Leu2192Ile) c.*4119C>A (n.*4119C>A) c.2205+50573C>A (n.2205+50573C>A) c.5956C>A (p.Leu1986Ile) | |
| 11 | g.103184992C= | CA1996418763 | DYNC2H1 | c.6574C= (p.Leu2192=) c.*4119C= (n.*4119C=) c.2205+50573C= (n.2205+50573C=) c.5956C= (p.Leu1986=) | |
| 11 | g.103184992C>G | CA382249013 | DYNC2H1 | c.6574C>G (p.Leu2192Val) c.*4119C>G (n.*4119C>G) c.2205+50573C>G (n.2205+50573C>G) c.5956C>G (p.Leu1986Val) | |
| 11 | g.103184992C>T | CA382249012 | DYNC2H1 | c.6574C>T (p.Leu2192Phe) c.*4119C>T (n.*4119C>T) c.2205+50573C>T (n.2205+50573C>T) c.5956C>T (p.Leu1986Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103184993T>A | CA382249014 | DYNC2H1 | c.6575T>A (p.Leu2192His) c.*4120T>A (n.*4120T>A) c.2205+50574T>A (n.2205+50574T>A) c.5957T>A (p.Leu1986His) | |
| 11 | g.103184993T>C | CA382249015 | DYNC2H1 | c.6575T>C (p.Leu2192Pro) c.*4120T>C (n.*4120T>C) c.2205+50574T>C (n.2205+50574T>C) c.5957T>C (p.Leu1986Pro) | |
| 11 | g.103184993T>G | CA382249017 | DYNC2H1 | c.6575T>G (p.Leu2192Arg) c.*4120T>G (n.*4120T>G) c.2205+50574T>G (n.2205+50574T>G) c.5957T>G (p.Leu1986Arg) | |
| 11 | g.103184994C>A | CA476609782 | DYNC2H1 | c.6576C>A (p.Leu2192=) c.*4121C>A (n.*4121C>A) c.2205+50575C>A (n.2205+50575C>A) c.5958C>A (p.Leu1986=) | |
| 11 | g.103184994C= | CA1996418764 | DYNC2H1 | c.6576C= (p.Leu2192=) c.*4121C= (n.*4121C=) c.2205+50575C= (n.2205+50575C=) c.5958C= (p.Leu1986=) | |
| 11 | g.103184994C>G | CA476609781 | DYNC2H1 | c.6576C>G (p.Leu2192=) c.*4121C>G (n.*4121C>G) c.2205+50575C>G (n.2205+50575C>G) c.5958C>G (p.Leu1986=) | |
| 11 | g.103184994C>T | CA476609780 | DYNC2H1 | c.6576C>T (p.Leu2192=) c.*4121C>T (n.*4121C>T) c.2205+50575C>T (n.2205+50575C>T) c.5958C>T (p.Leu1986=) | dbSNP gnomAD v4 |
| 11 | g.103184995A>C | CA382249020 | DYNC2H1 | c.6577A>C (p.Ile2193Leu) c.*4122A>C (n.*4122A>C) c.2205+50576A>C (n.2205+50576A>C) c.5959A>C (p.Ile1987Leu) | gnomAD v4 |
| 11 | g.103184995A>G | CA382249021 | DYNC2H1 | c.6577A>G (p.Ile2193Val) c.*4122A>G (n.*4122A>G) c.2205+50576A>G (n.2205+50576A>G) c.5959A>G (p.Ile1987Val) | |
| 11 | g.103184995A>T | CA382249022 | DYNC2H1 | c.6577A>T (p.Ile2193Leu) c.*4122A>T (n.*4122A>T) c.2205+50576A>T (n.2205+50576A>T) c.5959A>T (p.Ile1987Leu) | |
| 11 | g.103184995_103185003del | CA2545628274 | DYNC2H1 | c.6577_6585del (p.Ile2193_Gly2195del) c.*4122_*4130del (n.*4122_*4130del) c.2205+50576_2205+50584del (n.2205+50576_2205+50584del) c.5959_5967del (p.Ile1987_Gly1989del) | |
| 11 | g.103184996T>A | CA382249024 | DYNC2H1 | c.6578T>A (p.Ile2193Lys) c.*4123T>A (n.*4123T>A) c.2205+50577T>A (n.2205+50577T>A) c.5960T>A (p.Ile1987Lys) | |
| 11 | g.103184996T>C | CA382249026 | DYNC2H1 | c.6578T>C (p.Ile2193Thr) c.*4123T>C (n.*4123T>C) c.2205+50577T>C (n.2205+50577T>C) c.5960T>C (p.Ile1987Thr) | |
| 11 | g.103184996T>G | CA382249027 | DYNC2H1 | c.6578T>G (p.Ile2193Arg) c.*4123T>G (n.*4123T>G) c.2205+50577T>G (n.2205+50577T>G) c.5960T>G (p.Ile1987Arg) | |
| 11 | g.103184997A= | CA1996418765 | DYNC2H1 | c.6579A= (p.Ile2193=) c.*4124A= (n.*4124A=) c.2205+50578A= (n.2205+50578A=) c.5961A= (p.Ile1987=) | |
| 11 | g.103184997A>C | CA6254007 | DYNC2H1 | c.6579A>C (p.Ile2193=) c.*4124A>C (n.*4124A>C) c.2205+50578A>C (n.2205+50578A>C) c.5961A>C (p.Ile1987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103184997A>G | CA382249029 | DYNC2H1 | c.6579A>G (p.Ile2193Met) c.*4124A>G (n.*4124A>G) c.2205+50578A>G (n.2205+50578A>G) c.5961A>G (p.Ile1987Met) | COSMIC |
| 11 | g.103184997A>T | CA476609783 | DYNC2H1 | c.6579A>T (p.Ile2193=) c.*4124A>T (n.*4124A>T) c.2205+50578A>T (n.2205+50578A>T) c.5961A>T (p.Ile1987=) | |
| 11 | g.103184998A= | CA1996418766 | DYNC2H1 | c.6580A= (p.Arg2194=) c.*4125A= (n.*4125A=) c.2205+50579A= (n.2205+50579A=) c.5962A= (p.Arg1988=) | |
| 11 | g.103184998A>C | CA476609784 | DYNC2H1 | c.6580A>C (p.Arg2194=) c.*4125A>C (n.*4125A>C) c.2205+50579A>C (n.2205+50579A>C) c.5962A>C (p.Arg1988=) | dbSNP |
| 11 | g.103184998A>G | CA382249032 | DYNC2H1 | c.6580A>G (p.Arg2194Gly) c.*4125A>G (n.*4125A>G) c.2205+50579A>G (n.2205+50579A>G) c.5962A>G (p.Arg1988Gly) | |
| 11 | g.103184998A>T | CA382249033 | DYNC2H1 | c.6580A>T (p.Arg2194Trp) c.*4125A>T (n.*4125A>T) c.2205+50579A>T (n.2205+50579A>T) c.5962A>T (p.Arg1988Trp) | |
| 11 | g.103184999G>A | CA382249040 | DYNC2H1 | c.6581G>A (p.Arg2194Lys) c.*4126G>A (n.*4126G>A) c.2205+50580G>A (n.2205+50580G>A) c.5963G>A (p.Arg1988Lys) | |
| 11 | g.103184999G>C | CA382249036 | DYNC2H1 | c.6581G>C (p.Arg2194Thr) c.*4126G>C (n.*4126G>C) c.2205+50580G>C (n.2205+50580G>C) c.5963G>C (p.Arg1988Thr) | |
| 11 | g.103184999G>T | CA382249038 | DYNC2H1 | c.6581G>T (p.Arg2194Met) c.*4126G>T (n.*4126G>T) c.2205+50580G>T (n.2205+50580G>T) c.5963G>T (p.Arg1988Met) | |
| 11 | g.103185000G>A | CA476609785 | DYNC2H1 | c.6582G>A (p.Arg2194=) c.*4127G>A (n.*4127G>A) c.2205+50581G>A (n.2205+50581G>A) c.5964G>A (p.Arg1988=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185000G>C | CA6254008 | DYNC2H1 | c.6582G>C (p.Arg2194Ser) c.*4127G>C (n.*4127G>C) c.2205+50581G>C (n.2205+50581G>C) c.5964G>C (p.Arg1988Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103185000G= | CA1996418767 | DYNC2H1 | c.6582G= (p.Arg2194=) c.*4127G= (n.*4127G=) c.2205+50581G= (n.2205+50581G=) c.5964G= (p.Arg1988=) | |
| 11 | g.103185000G>T | CA382249042 | DYNC2H1 | c.6582G>T (p.Arg2194Ser) c.*4127G>T (n.*4127G>T) c.2205+50581G>T (n.2205+50581G>T) c.5964G>T (p.Arg1988Ser) | |
| 11 | g.103185001G>A | CA6254009 | DYNC2H1 | c.6583G>A (p.Gly2195Arg) c.*4128G>A (n.*4128G>A) c.2205+50582G>A (n.2205+50582G>A) c.5965G>A (p.Gly1989Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185001G>C | CA382249045 | DYNC2H1 | c.6583G>C (p.Gly2195Arg) c.*4128G>C (n.*4128G>C) c.2205+50582G>C (n.2205+50582G>C) c.5965G>C (p.Gly1989Arg) | |
| 11 | g.103185001G= | CA1996418768 | DYNC2H1 | c.6583G= (p.Gly2195=) c.*4128G= (n.*4128G=) c.2205+50582G= (n.2205+50582G=) c.5965G= (p.Gly1989=) | |
| 11 | g.103185001G>T | CA382249047 | DYNC2H1 | c.6583G>T (p.Gly2195Ter) c.*4128G>T (n.*4128G>T) c.2205+50582G>T (n.2205+50582G>T) c.5965G>T (p.Gly1989Ter) | |
| 11 | g.103185002G>A | CA382249049 | DYNC2H1 | c.6584G>A (p.Gly2195Glu) c.*4129G>A (n.*4129G>A) c.2205+50583G>A (n.2205+50583G>A) c.5966G>A (p.Gly1989Glu) | |
| 11 | g.103185002G>C | CA382249051 | DYNC2H1 | c.6584G>C (p.Gly2195Ala) c.*4129G>C (n.*4129G>C) c.2205+50583G>C (n.2205+50583G>C) c.5966G>C (p.Gly1989Ala) | |
| 11 | g.103185002G>T | CA382249053 | DYNC2H1 | c.6584G>T (p.Gly2195Val) c.*4129G>T (n.*4129G>T) c.2205+50583G>T (n.2205+50583G>T) c.5966G>T (p.Gly1989Val) | gnomAD v4 |
| 11 | g.103185003A= | CA1996418769 | DYNC2H1 | c.6585A= (p.Gly2195=) c.*4130A= (n.*4130A=) c.2205+50584A= (n.2205+50584A=) c.5967A= (p.Gly1989=) | |
| 11 | g.103185003A>C | CA476609787 | DYNC2H1 | c.6585A>C (p.Gly2195=) c.*4130A>C (n.*4130A>C) c.2205+50584A>C (n.2205+50584A>C) c.5967A>C (p.Gly1989=) | |
| 11 | g.103185003A>G | CA476609788 | DYNC2H1 | c.6585A>G (p.Gly2195=) c.*4130A>G (n.*4130A>G) c.2205+50584A>G (n.2205+50584A>G) c.5967A>G (p.Gly1989=) | |
| 11 | g.103185003A>T | CA6254010 | DYNC2H1 | c.6585A>T (p.Gly2195=) c.*4130A>T (n.*4130A>T) c.2205+50584A>T (n.2205+50584A>T) c.5967A>T (p.Gly1989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103185004C>A | CA382249056 | DYNC2H1 | c.6586C>A (p.Leu2196Ile) c.*4131C>A (n.*4131C>A) c.2205+50585C>A (n.2205+50585C>A) c.5968C>A (p.Leu1990Ile) | |
| 11 | g.103185004C>G | CA382249059 | DYNC2H1 | c.6586C>G (p.Leu2196Val) c.*4131C>G (n.*4131C>G) c.2205+50585C>G (n.2205+50585C>G) c.5968C>G (p.Leu1990Val) | |
| 11 | g.103185004C>T | CA382249061 | DYNC2H1 | c.6586C>T (p.Leu2196Phe) c.*4131C>T (n.*4131C>T) c.2205+50585C>T (n.2205+50585C>T) c.5968C>T (p.Leu1990Phe) | |
| 11 | g.103185005T>A | CA382249063 | DYNC2H1 | c.6587T>A (p.Leu2196His) c.*4132T>A (n.*4132T>A) c.2205+50586T>A (n.2205+50586T>A) c.5969T>A (p.Leu1990His) | |
| 11 | g.103185005T>C | CA6254011 | DYNC2H1 | c.6587T>C (p.Leu2196Pro) c.*4132T>C (n.*4132T>C) c.2205+50586T>C (n.2205+50586T>C) c.5969T>C (p.Leu1990Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103185005T>G | CA382249065 | DYNC2H1 | c.6587T>G (p.Leu2196Arg) c.*4132T>G (n.*4132T>G) c.2205+50586T>G (n.2205+50586T>G) c.5969T>G (p.Leu1990Arg) | |
| 11 | g.103185005T= | CA1996418770 | DYNC2H1 | c.6587T= (p.Leu2196=) c.*4132T= (n.*4132T=) c.2205+50586T= (n.2205+50586T=) c.5969T= (p.Leu1990=) | |
| 11 | g.103185005_103185006insATTAACCAGTAAACATAGAACCA | CA1996418771 | DYNC2H1 | c.6587_6588insATTAACCAGTAAACATAGAACCA (p.Gly2197LeufsTer12) c.*4132_*4133insATTAACCAGTAAACATAGAACCA (n.*4132_*4133insATTAACCAGTAAACATAGAACCA) c.2205+50586_2205+50587insATTAACCAGTAAACATAGAACCA (n.2205+50586_2205+50587insATTAACCAGTAAACATAGAACCA) c.5969_5970insATTAACCAGTAAACATAGAACCA (p.Gly1991LeufsTer12) | dbSNP |
| 11 | g.103185006T>A | CA476609789 | DYNC2H1 | c.6588T>A (p.Leu2196=) c.*4133T>A (n.*4133T>A) c.2205+50587T>A (n.2205+50587T>A) c.5970T>A (p.Leu1990=) | |
| 11 | g.103185006T>C | CA476609790 | DYNC2H1 | c.6588T>C (p.Leu2196=) c.*4133T>C (n.*4133T>C) c.2205+50587T>C (n.2205+50587T>C) c.5970T>C (p.Leu1990=) | |
| 11 | g.103185006T>G | CA476609791 | DYNC2H1 | c.6588T>G (p.Leu2196=) c.*4133T>G (n.*4133T>G) c.2205+50587T>G (n.2205+50587T>G) c.5970T>G (p.Leu1990=) | |
| 11 | g.103185006_103185011del | CA2544803717 | DYNC2H1 | c.6588_6593del (p.Gly2197_Gly2198del) c.*4133_*4138del (n.*4133_*4138del) c.2205+50587_2205+50592del (n.2205+50587_2205+50592del) c.5970_5975del (p.Gly1991_Gly1992del) | |
| 11 | g.103185009_103185011del | CA2695215286 | DYNC2H1 | c.6591_6593del (p.Gly2198del) c.*4136_*4138del (n.*4136_*4138del) c.2205+50590_2205+50592del (n.2205+50590_2205+50592del) c.5973_5975del (p.Gly1992del) | |
| 11 | g.103185007G>A | CA382249069 | DYNC2H1 | c.6589G>A (p.Gly2197Ser) c.*4134G>A (n.*4134G>A) c.2205+50588G>A (n.2205+50588G>A) c.5971G>A (p.Gly1991Ser) | |
| 11 | g.103185007G>C | CA382249073 | DYNC2H1 | c.6589G>C (p.Gly2197Arg) c.*4134G>C (n.*4134G>C) c.2205+50588G>C (n.2205+50588G>C) c.5971G>C (p.Gly1991Arg) | |
| 11 | g.103185007G>T | CA382249070 | DYNC2H1 | c.6589G>T (p.Gly2197Cys) c.*4134G>T (n.*4134G>T) c.2205+50588G>T (n.2205+50588G>T) c.5971G>T (p.Gly1991Cys) | |
| 11 | g.103185008G>A | CA382249075 | DYNC2H1 | c.6590G>A (p.Gly2197Asp) c.*4135G>A (n.*4135G>A) c.2205+50589G>A (n.2205+50589G>A) c.5972G>A (p.Gly1991Asp) | gnomAD v4 |
| 11 | g.103185008G>C | CA382249077 | DYNC2H1 | c.6590G>C (p.Gly2197Ala) c.*4135G>C (n.*4135G>C) c.2205+50589G>C (n.2205+50589G>C) c.5972G>C (p.Gly1991Ala) | |
| 11 | g.103185008G>T | CA382249079 | DYNC2H1 | c.6590G>T (p.Gly2197Val) c.*4135G>T (n.*4135G>T) c.2205+50589G>T (n.2205+50589G>T) c.5972G>T (p.Gly1991Val) | |
| 11 | g.103185009T>A | CA476609792 | DYNC2H1 | c.6591T>A (p.Gly2197=) c.*4136T>A (n.*4136T>A) c.2205+50590T>A (n.2205+50590T>A) c.5973T>A (p.Gly1991=) | |
| 11 | g.103185009T>C | CA476609793 | DYNC2H1 | c.6591T>C (p.Gly2197=) c.*4136T>C (n.*4136T>C) c.2205+50590T>C (n.2205+50590T>C) c.5973T>C (p.Gly1991=) | |
| 11 | g.103185009T>G | CA476609794 | DYNC2H1 | c.6591T>G (p.Gly2197=) c.*4136T>G (n.*4136T>G) c.2205+50590T>G (n.2205+50590T>G) c.5973T>G (p.Gly1991=) | |
| 11 | g.103185010G>A | CA382249082 | DYNC2H1 | c.6592G>A (p.Gly2198Arg) c.*4137G>A (n.*4137G>A) c.2205+50591G>A (n.2205+50591G>A) c.5974G>A (p.Gly1992Arg) | |
| 11 | g.103185010G>C | CA382249084 | DYNC2H1 | c.6592G>C (p.Gly2198Arg) c.*4137G>C (n.*4137G>C) c.2205+50591G>C (n.2205+50591G>C) c.5974G>C (p.Gly1992Arg) | |
| 11 | g.103185010G>T | CA382249085 | DYNC2H1 | c.6592G>T (p.Gly2198Ter) c.*4137G>T (n.*4137G>T) c.2205+50591G>T (n.2205+50591G>T) c.5974G>T (p.Gly1992Ter) | |
| 11 | g.103185011G>A | CA382249087 | DYNC2H1 | c.6593G>A (p.Gly2198Glu) c.*4138G>A (n.*4138G>A) c.2205+50592G>A (n.2205+50592G>A) c.5975G>A (p.Gly1992Glu) | |
| 11 | g.103185011G>C | CA382249089 | DYNC2H1 | c.6593G>C (p.Gly2198Ala) c.*4138G>C (n.*4138G>C) c.2205+50592G>C (n.2205+50592G>C) c.5975G>C (p.Gly1992Ala) | |
| 11 | g.103185011G>T | CA382249091 | DYNC2H1 | c.6593G>T (p.Gly2198Val) c.*4138G>T (n.*4138G>T) c.2205+50592G>T (n.2205+50592G>T) c.5975G>T (p.Gly1992Val) | |
| 11 | g.103185012A>C | CA476609795 | DYNC2H1 | c.6594A>C (p.Gly2198=) c.*4139A>C (n.*4139A>C) c.2205+50593A>C (n.2205+50593A>C) c.5976A>C (p.Gly1992=) | |
| 11 | g.103185012A>G | CA476609796 | DYNC2H1 | c.6594A>G (p.Gly2198=) c.*4139A>G (n.*4139A>G) c.2205+50593A>G (n.2205+50593A>G) c.5976A>G (p.Gly1992=) | |
| 11 | g.103185012A>T | CA476609797 | DYNC2H1 | c.6594A>T (p.Gly2198=) c.*4139A>T (n.*4139A>T) c.2205+50593A>T (n.2205+50593A>T) c.5976A>T (p.Gly1992=) | |
| 11 | g.103185013A>C | CA382249093 | DYNC2H1 | c.6595A>C (p.Asn2199His) c.*4140A>C (n.*4140A>C) c.2205+50594A>C (n.2205+50594A>C) c.5977A>C (p.Asn1993His) | |
| 11 | g.103185013A>G | CA382249095 | DYNC2H1 | c.6595A>G (p.Asn2199Asp) c.*4140A>G (n.*4140A>G) c.2205+50594A>G (n.2205+50594A>G) c.5977A>G (p.Asn1993Asp) | |
| 11 | g.103185013A>T | CA382249097 | DYNC2H1 | c.6595A>T (p.Asn2199Tyr) c.*4140A>T (n.*4140A>T) c.2205+50594A>T (n.2205+50594A>T) c.5977A>T (p.Asn1993Tyr) | |
| 11 | g.103185014A>C | CA382249099 | DYNC2H1 | c.6596A>C (p.Asn2199Thr) c.*4141A>C (n.*4141A>C) c.2205+50595A>C (n.2205+50595A>C) c.5978A>C (p.Asn1993Thr) | |
| 11 | g.103185014A>G | CA382249102 | DYNC2H1 | c.6596A>G (p.Asn2199Ser) c.*4141A>G (n.*4141A>G) c.2205+50595A>G (n.2205+50595A>G) c.5978A>G (p.Asn1993Ser) | |
| 11 | g.103185014A>T | CA382249100 | DYNC2H1 | c.6596A>T (p.Asn2199Ile) c.*4141A>T (n.*4141A>T) c.2205+50595A>T (n.2205+50595A>T) c.5978A>T (p.Asn1993Ile) | |
| 11 | g.103185015T>A | CA382249104 | DYNC2H1 | c.6597T>A (p.Asn2199Lys) c.*4142T>A (n.*4142T>A) c.2205+50596T>A (n.2205+50596T>A) c.5979T>A (p.Asn1993Lys) | |
| 11 | g.103185015T>C | CA476609798 | DYNC2H1 | c.6597T>C (p.Asn2199=) c.*4142T>C (n.*4142T>C) c.2205+50596T>C (n.2205+50596T>C) c.5979T>C (p.Asn1993=) | gnomAD v4 |
| 11 | g.103185015T>G | CA382249106 | DYNC2H1 | c.6597T>G (p.Asn2199Lys) c.*4142T>G (n.*4142T>G) c.2205+50596T>G (n.2205+50596T>G) c.5979T>G (p.Asn1993Lys) | |
| 11 | g.103185016C>A | CA382249108 | DYNC2H1 | c.6598C>A (p.Leu2200Met) c.*4143C>A (n.*4143C>A) c.2205+50597C>A (n.2205+50597C>A) c.5980C>A (p.Leu1994Met) | |
| 11 | g.103185016C>G | CA382249110 | DYNC2H1 | c.6598C>G (p.Leu2200Val) c.*4143C>G (n.*4143C>G) c.2205+50597C>G (n.2205+50597C>G) c.5980C>G (p.Leu1994Val) | COSMIC |
| 11 | g.103185016C>T | CA476609799 | DYNC2H1 | c.6598C>T (p.Leu2200=) c.*4143C>T (n.*4143C>T) c.2205+50597C>T (n.2205+50597C>T) c.5980C>T (p.Leu1994=) | |
| 11 | g.103185017T>A | CA382249112 | DYNC2H1 | c.6599T>A (p.Leu2200Gln) c.*4144T>A (n.*4144T>A) c.2205+50598T>A (n.2205+50598T>A) c.5981T>A (p.Leu1994Gln) | |
| 11 | g.103185017T>C | CA382249114 | DYNC2H1 | c.6599T>C (p.Leu2200Pro) c.*4144T>C (n.*4144T>C) c.2205+50598T>C (n.2205+50598T>C) c.5981T>C (p.Leu1994Pro) | |
| 11 | g.103185017T>G | CA382249116 | DYNC2H1 | c.6599T>G (p.Leu2200Arg) c.*4144T>G (n.*4144T>G) c.2205+50598T>G (n.2205+50598T>G) c.5981T>G (p.Leu1994Arg) | |
| 11 | g.103185018G>A | CA476609800 | DYNC2H1 | c.6600G>A (p.Leu2200=) c.*4145G>A (n.*4145G>A) c.2205+50599G>A (n.2205+50599G>A) c.5982G>A (p.Leu1994=) | |
| 11 | g.103185018G>C | CA476609801 | DYNC2H1 | c.6600G>C (p.Leu2200=) c.*4145G>C (n.*4145G>C) c.2205+50599G>C (n.2205+50599G>C) c.5982G>C (p.Leu1994=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185018G= | CA1996418772 | DYNC2H1 | c.6600G= (p.Leu2200=) c.*4145G= (n.*4145G=) c.2205+50599G= (n.2205+50599G=) c.5982G= (p.Leu1994=) | |
| 11 | g.103185018G>T | CA476609802 | DYNC2H1 | c.6600G>T (p.Leu2200=) c.*4145G>T (n.*4145G>T) c.2205+50599G>T (n.2205+50599G>T) c.5982G>T (p.Leu1994=) | |
| 11 | g.103185019A>C | CA382249117 | DYNC2H1 | c.6601A>C (p.Asn2201His) c.*4146A>C (n.*4146A>C) c.2205+50600A>C (n.2205+50600A>C) c.5983A>C (p.Asn1995His) | |
| 11 | g.103185019A>G | CA382249119 | DYNC2H1 | c.6601A>G (p.Asn2201Asp) c.*4146A>G (n.*4146A>G) c.2205+50600A>G (n.2205+50600A>G) c.5983A>G (p.Asn1995Asp) | |
| 11 | g.103185019A>T | CA382249121 | DYNC2H1 | c.6601A>T (p.Asn2201Tyr) c.*4146A>T (n.*4146A>T) c.2205+50600A>T (n.2205+50600A>T) c.5983A>T (p.Asn1995Tyr) | |
| 11 | g.103185020A= | CA1996418773 | DYNC2H1 | c.6602A= (p.Asn2201=) c.*4147A= (n.*4147A=) c.2205+50601A= (n.2205+50601A=) c.5984A= (p.Asn1995=) | |
| 11 | g.103185020A>C | CA382249125 | DYNC2H1 | c.6602A>C (p.Asn2201Thr) c.*4147A>C (n.*4147A>C) c.2205+50601A>C (n.2205+50601A>C) c.5984A>C (p.Asn1995Thr) | |
| 11 | g.103185020A>G | CA382249127 | DYNC2H1 | c.6602A>G (p.Asn2201Ser) c.*4147A>G (n.*4147A>G) c.2205+50601A>G (n.2205+50601A>G) c.5984A>G (p.Asn1995Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185020A>T | CA382249123 | DYNC2H1 | c.6602A>T (p.Asn2201Ile) c.*4147A>T (n.*4147A>T) c.2205+50601A>T (n.2205+50601A>T) c.5984A>T (p.Asn1995Ile) | gnomAD v4 |
| 11 | g.103185021T>A | CA382249129 | DYNC2H1 | c.6603T>A (p.Asn2201Lys) c.*4148T>A (n.*4148T>A) c.2205+50602T>A (n.2205+50602T>A) c.5985T>A (p.Asn1995Lys) | |
| 11 | g.103185021T>C | CA476609803 | DYNC2H1 | c.6603T>C (p.Asn2201=) c.*4148T>C (n.*4148T>C) c.2205+50602T>C (n.2205+50602T>C) c.5985T>C (p.Asn1995=) | |
| 11 | g.103185021T>G | CA382249131 | DYNC2H1 | c.6603T>G (p.Asn2201Lys) c.*4148T>G (n.*4148T>G) c.2205+50602T>G (n.2205+50602T>G) c.5985T>G (p.Asn1995Lys) | |
| 11 | g.103185022A= | CA1996418774 | DYNC2H1 | c.6604A= (p.Met2202=) c.*4149A= (n.*4149A=) c.2205+50603A= (n.2205+50603A=) c.5986A= (p.Met1996=) | |
| 11 | g.103185022A>C | CA382249133 | DYNC2H1 | c.6604A>C (p.Met2202Leu) c.*4149A>C (n.*4149A>C) c.2205+50603A>C (n.2205+50603A>C) c.5986A>C (p.Met1996Leu) | |
| 11 | g.103185022A>G | CA233924 | DYNC2H1 | c.6604A>G (p.Met2202Val) c.*4149A>G (n.*4149A>G) c.2205+50603A>G (n.2205+50603A>G) c.5986A>G (p.Met1996Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185022A>T | CA382249136 | DYNC2H1 | c.6604A>T (p.Met2202Leu) c.*4149A>T (n.*4149A>T) c.2205+50603A>T (n.2205+50603A>T) c.5986A>T (p.Met1996Leu) | |
| 11 | g.103185023T>A | CA382249142 | DYNC2H1 | c.6605T>A (p.Met2202Lys) c.*4150T>A (n.*4150T>A) c.2205+50604T>A (n.2205+50604T>A) c.5987T>A (p.Met1996Lys) | |
| 11 | g.103185023T>C | CA382249140 | DYNC2H1 | c.6605T>C (p.Met2202Thr) c.*4150T>C (n.*4150T>C) c.2205+50604T>C (n.2205+50604T>C) c.5987T>C (p.Met1996Thr) | |
| 11 | g.103185023T>G | CA382249138 | DYNC2H1 | c.6605T>G (p.Met2202Arg) c.*4150T>G (n.*4150T>G) c.2205+50604T>G (n.2205+50604T>G) c.5987T>G (p.Met1996Arg) | |
| 11 | g.103185024G>A | CA382249143 | DYNC2H1 | c.6606G>A (p.Met2202Ile) c.*4151G>A (n.*4151G>A) c.2205+50605G>A (n.2205+50605G>A) c.5988G>A (p.Met1996Ile) | COSMIC |
| 11 | g.103185024G>C | CA382249145 | DYNC2H1 | c.6606G>C (p.Met2202Ile) c.*4151G>C (n.*4151G>C) c.2205+50605G>C (n.2205+50605G>C) c.5988G>C (p.Met1996Ile) | |
| 11 | g.103185024G= | CA1996418775 | DYNC2H1 | c.6606G= (p.Met2202=) c.*4151G= (n.*4151G=) c.2205+50605G= (n.2205+50605G=) c.5988G= (p.Met1996=) | |
| 11 | g.103185024G>T | CA6254012 | DYNC2H1 | c.6606G>T (p.Met2202Ile) c.*4151G>T (n.*4151G>T) c.2205+50605G>T (n.2205+50605G>T) c.5988G>T (p.Met1996Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103185025A>C | CA382249148 | DYNC2H1 | c.6607A>C (p.Lys2203Gln) c.*4152A>C (n.*4152A>C) c.2205+50606A>C (n.2205+50606A>C) c.5989A>C (p.Lys1997Gln) | |
| 11 | g.103185025A>G | CA382249150 | DYNC2H1 | c.6607A>G (p.Lys2203Glu) c.*4152A>G (n.*4152A>G) c.2205+50606A>G (n.2205+50606A>G) c.5989A>G (p.Lys1997Glu) | |
| 11 | g.103185025A>T | CA382249152 | DYNC2H1 | c.6607A>T (p.Lys2203Ter) c.*4152A>T (n.*4152A>T) c.2205+50606A>T (n.2205+50606A>T) c.5989A>T (p.Lys1997Ter) | |
| 11 | g.103185026A>C | CA382249154 | DYNC2H1 | c.6608A>C (p.Lys2203Thr) c.*4153A>C (n.*4153A>C) c.2205+50607A>C (n.2205+50607A>C) c.5990A>C (p.Lys1997Thr) | gnomAD v4 |
| 11 | g.103185026A>G | CA382249158 | DYNC2H1 | c.6608A>G (p.Lys2203Arg) c.*4153A>G (n.*4153A>G) c.2205+50607A>G (n.2205+50607A>G) c.5990A>G (p.Lys1997Arg) | |
| 11 | g.103185026A>T | CA382249156 | DYNC2H1 | c.6608A>T (p.Lys2203Met) c.*4153A>T (n.*4153A>T) c.2205+50607A>T (n.2205+50607A>T) c.5990A>T (p.Lys1997Met) | |
| 11 | g.103185027G>A | CA476609805 | DYNC2H1 | c.6609G>A (p.Lys2203=) c.*4154G>A (n.*4154G>A) c.2205+50608G>A (n.2205+50608G>A) c.5991G>A (p.Lys1997=) | dbSNP |
| 11 | g.103185027G>C | CA382249160 | DYNC2H1 | c.6609G>C (p.Lys2203Asn) c.*4154G>C (n.*4154G>C) c.2205+50608G>C (n.2205+50608G>C) c.5991G>C (p.Lys1997Asn) | |
| 11 | g.103185027G= | CA1996418776 | DYNC2H1 | c.6609G= (p.Lys2203=) c.*4154G= (n.*4154G=) c.2205+50608G= (n.2205+50608G=) c.5991G= (p.Lys1997=) | |
| 11 | g.103185027G>T | CA382249161 | DYNC2H1 | c.6609G>T (p.Lys2203Asn) c.*4154G>T (n.*4154G>T) c.2205+50608G>T (n.2205+50608G>T) c.5991G>T (p.Lys1997Asn) | |
| 11 | g.103185028T>A | CA382249163 | DYNC2H1 | c.6610T>A (p.Ser2204Thr) c.*4155T>A (n.*4155T>A) c.2205+50609T>A (n.2205+50609T>A) c.5992T>A (p.Ser1998Thr) | |
| 11 | g.103185028T>C | CA382249165 | DYNC2H1 | c.6610T>C (p.Ser2204Pro) c.*4155T>C (n.*4155T>C) c.2205+50609T>C (n.2205+50609T>C) c.5992T>C (p.Ser1998Pro) | |
| 11 | g.103185028T>G | CA382249166 | DYNC2H1 | c.6610T>G (p.Ser2204Ala) c.*4155T>G (n.*4155T>G) c.2205+50609T>G (n.2205+50609T>G) c.5992T>G (p.Ser1998Ala) | |
| 11 | g.103185029C>A | CA382249168 | DYNC2H1 | c.6611C>A (p.Ser2204Ter) c.*4156C>A (n.*4156C>A) c.2205+50610C>A (n.2205+50610C>A) c.5993C>A (p.Ser1998Ter) | |
| 11 | g.103185029C>G | CA382249170 | DYNC2H1 | c.6611C>G (p.Ser2204Ter) c.*4156C>G (n.*4156C>G) c.2205+50610C>G (n.2205+50610C>G) c.5993C>G (p.Ser1998Ter) | |
| 11 | g.103185029C>T | CA382249172 | DYNC2H1 | c.6611C>T (p.Ser2204Leu) c.*4156C>T (n.*4156C>T) c.2205+50610C>T (n.2205+50610C>T) c.5993C>T (p.Ser1998Leu) | |
| 11 | g.103185030A= | CA1996418777 | DYNC2H1 | c.6612A= (p.Ser2204=) c.*4157A= (n.*4157A=) c.2205+50611A= (n.2205+50611A=) c.5994A= (p.Ser1998=) | |
| 11 | g.103185030A>C | CA227404645 | DYNC2H1 | c.6612A>C (p.Ser2204=) c.*4157A>C (n.*4157A>C) c.2205+50611A>C (n.2205+50611A>C) c.5994A>C (p.Ser1998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185030A>G | CA476609807 | DYNC2H1 | c.6612A>G (p.Ser2204=) c.*4157A>G (n.*4157A>G) c.2205+50611A>G (n.2205+50611A>G) c.5994A>G (p.Ser1998=) | |
| 11 | g.103185030A>T | CA476609808 | DYNC2H1 | c.6612A>T (p.Ser2204=) c.*4157A>T (n.*4157A>T) c.2205+50611A>T (n.2205+50611A>T) c.5994A>T (p.Ser1998=) | |
| 11 | g.103185031C>A | CA382249174 | DYNC2H1 | c.6613C>A (p.Arg2205Ser) c.*4158C>A (n.*4158C>A) c.2205+50612C>A (n.2205+50612C>A) c.5995C>A (p.Arg1999Ser) | |
| 11 | g.103185031C= | CA1996418778 | DYNC2H1 | c.6613C= (p.Arg2205=) c.*4158C= (n.*4158C=) c.2205+50612C= (n.2205+50612C=) c.5995C= (p.Arg1999=) | |
| 11 | g.103185031C>G | CA382249176 | DYNC2H1 | c.6613C>G (p.Arg2205Gly) c.*4158C>G (n.*4158C>G) c.2205+50612C>G (n.2205+50612C>G) c.5995C>G (p.Arg1999Gly) | |
| 11 | g.103185031C>T | CA6254013 | DYNC2H1 | c.6613C>T (p.Arg2205Cys) c.*4158C>T (n.*4158C>T) c.2205+50612C>T (n.2205+50612C>T) c.5995C>T (p.Arg1999Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185032G>A | CA210507 | DYNC2H1 | c.6614G>A (p.Arg2205His) c.*4159G>A (n.*4159G>A) c.2205+50613G>A (n.2205+50613G>A) c.5996G>A (p.Arg1999His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185032G>C | CA382249182 | DYNC2H1 | c.6614G>C (p.Arg2205Pro) c.*4159G>C (n.*4159G>C) c.2205+50613G>C (n.2205+50613G>C) c.5996G>C (p.Arg1999Pro) | |
| 11 | g.103185032G= | CA1996418779 | DYNC2H1 | c.6614G= (p.Arg2205=) c.*4159G= (n.*4159G=) c.2205+50613G= (n.2205+50613G=) c.5996G= (p.Arg1999=) | |
| 11 | g.103185032G>T | CA382249180 | DYNC2H1 | c.6614G>T (p.Arg2205Leu) c.*4159G>T (n.*4159G>T) c.2205+50613G>T (n.2205+50613G>T) c.5996G>T (p.Arg1999Leu) | |
| 11 | g.103185033T>A | CA476609811 | DYNC2H1 | c.6615T>A (p.Arg2205=) c.*4160T>A (n.*4160T>A) c.2205+50614T>A (n.2205+50614T>A) c.5997T>A (p.Arg1999=) | |
| 11 | g.103185033T>C | CA476609813 | DYNC2H1 | c.6615T>C (p.Arg2205=) c.*4160T>C (n.*4160T>C) c.2205+50614T>C (n.2205+50614T>C) c.5997T>C (p.Arg1999=) | |
| 11 | g.103185033T>G | CA476609814 | DYNC2H1 | c.6615T>G (p.Arg2205=) c.*4160T>G (n.*4160T>G) c.2205+50614T>G (n.2205+50614T>G) c.5997T>G (p.Arg1999=) | |
| 11 | g.103185034T>A | CA382249184 | DYNC2H1 | c.6616T>A (p.Leu2206Met) c.*4161T>A (n.*4161T>A) c.2205+50615T>A (n.2205+50615T>A) c.5998T>A (p.Leu2000Met) | |
| 11 | g.103185034T>C | CA476609816 | DYNC2H1 | c.6616T>C (p.Leu2206=) c.*4161T>C (n.*4161T>C) c.2205+50615T>C (n.2205+50615T>C) c.5998T>C (p.Leu2000=) | |
| 11 | g.103185034T>G | CA382249186 | DYNC2H1 | c.6616T>G (p.Leu2206Val) c.*4161T>G (n.*4161T>G) c.2205+50615T>G (n.2205+50615T>G) c.5998T>G (p.Leu2000Val) | |
| 11 | g.103185035T>A | CA382249188 | DYNC2H1 | c.6617T>A (p.Leu2206Ter) c.*4162T>A (n.*4162T>A) c.2205+50616T>A (n.2205+50616T>A) c.5999T>A (p.Leu2000Ter) | |
| 11 | g.103185035T>C | CA382249192 | DYNC2H1 | c.6617T>C (p.Leu2206Ser) c.*4162T>C (n.*4162T>C) c.2205+50616T>C (n.2205+50616T>C) c.5999T>C (p.Leu2000Ser) | |
| 11 | g.103185035T>G | CA382249190 | DYNC2H1 | c.6617T>G (p.Leu2206Trp) c.*4162T>G (n.*4162T>G) c.2205+50616T>G (n.2205+50616T>G) c.5999T>G (p.Leu2000Trp) | |
| 11 | g.103185036G>A | CA476609817 | DYNC2H1 | c.6618G>A (p.Leu2206=) c.*4163G>A (n.*4163G>A) c.2205+50617G>A (n.2205+50617G>A) c.6000G>A (p.Leu2000=) | |
| 11 | g.103185036G>C | CA382249194 | DYNC2H1 | c.6618G>C (p.Leu2206Phe) c.*4163G>C (n.*4163G>C) c.2205+50617G>C (n.2205+50617G>C) c.6000G>C (p.Leu2000Phe) | |
| 11 | g.103185036G>T | CA382249196 | DYNC2H1 | c.6618G>T (p.Leu2206Phe) c.*4163G>T (n.*4163G>T) c.2205+50617G>T (n.2205+50617G>T) c.6000G>T (p.Leu2000Phe) | |
| 11 | g.103185037G>A | CA382249198 | DYNC2H1 | c.6619G>A (p.Glu2207Lys) c.*4164G>A (n.*4164G>A) c.2205+50618G>A (n.2205+50618G>A) c.6001G>A (p.Glu2001Lys) | |
| 11 | g.103185037G>C | CA382249200 | DYNC2H1 | c.6619G>C (p.Glu2207Gln) c.*4164G>C (n.*4164G>C) c.2205+50618G>C (n.2205+50618G>C) c.6001G>C (p.Glu2001Gln) | |
| 11 | g.103185037G>T | CA382249202 | DYNC2H1 | c.6619G>T (p.Glu2207Ter) c.*4164G>T (n.*4164G>T) c.2205+50618G>T (n.2205+50618G>T) c.6001G>T (p.Glu2001Ter) | |
| 11 | g.103185038A>C | CA382249204 | DYNC2H1 | c.6620A>C (p.Glu2207Ala) c.*4165A>C (n.*4165A>C) c.2205+50619A>C (n.2205+50619A>C) c.6002A>C (p.Glu2001Ala) | |
| 11 | g.103185038A>G | CA382249206 | DYNC2H1 | c.6620A>G (p.Glu2207Gly) c.*4165A>G (n.*4165A>G) c.2205+50619A>G (n.2205+50619A>G) c.6002A>G (p.Glu2001Gly) | |
| 11 | g.103185038A>T | CA382249208 | DYNC2H1 | c.6620A>T (p.Glu2207Val) c.*4165A>T (n.*4165A>T) c.2205+50619A>T (n.2205+50619A>T) c.6002A>T (p.Glu2001Val) | |
| 11 | g.103185039A>C | CA382249210 | DYNC2H1 | c.6621A>C (p.Glu2207Asp) c.*4166A>C (n.*4166A>C) c.2205+50620A>C (n.2205+50620A>C) c.6003A>C (p.Glu2001Asp) | |
| 11 | g.103185039A>G | CA476609824 | DYNC2H1 | c.6621A>G (p.Glu2207=) c.*4166A>G (n.*4166A>G) c.2205+50620A>G (n.2205+50620A>G) c.6003A>G (p.Glu2001=) | |
| 11 | g.103185039A>T | CA382249212 | DYNC2H1 | c.6621A>T (p.Glu2207Asp) c.*4166A>T (n.*4166A>T) c.2205+50620A>T (n.2205+50620A>T) c.6003A>T (p.Glu2001Asp) | |
| 11 | g.103185040T>A | CA382249218 | DYNC2H1 | c.6622T>A (p.Phe2208Ile) c.*4167T>A (n.*4167T>A) c.2205+50621T>A (n.2205+50621T>A) c.6004T>A (p.Phe2002Ile) | |
| 11 | g.103185040T>C | CA382249216 | DYNC2H1 | c.6622T>C (p.Phe2208Leu) c.*4167T>C (n.*4167T>C) c.2205+50621T>C (n.2205+50621T>C) c.6004T>C (p.Phe2002Leu) | dbSNP |
| 11 | g.103185040T>G | CA382249214 | DYNC2H1 | c.6622T>G (p.Phe2208Val) c.*4167T>G (n.*4167T>G) c.2205+50621T>G (n.2205+50621T>G) c.6004T>G (p.Phe2002Val) | |
| 11 | g.103185040T= | CA1996418780 | DYNC2H1 | c.6622T= (p.Phe2208=) c.*4167T= (n.*4167T=) c.2205+50621T= (n.2205+50621T=) c.6004T= (p.Phe2002=) | |
| 11 | g.103185041T>A | CA382249220 | DYNC2H1 | c.6623T>A (p.Phe2208Tyr) c.*4168T>A (n.*4168T>A) c.2205+50622T>A (n.2205+50622T>A) c.6005T>A (p.Phe2002Tyr) | |
| 11 | g.103185041T>C | CA382249222 | DYNC2H1 | c.6623T>C (p.Phe2208Ser) c.*4168T>C (n.*4168T>C) c.2205+50622T>C (n.2205+50622T>C) c.6005T>C (p.Phe2002Ser) | |
| 11 | g.103185041T>G | CA382249223 | DYNC2H1 | c.6623T>G (p.Phe2208Cys) c.*4168T>G (n.*4168T>G) c.2205+50622T>G (n.2205+50622T>G) c.6005T>G (p.Phe2002Cys) | |
| 11 | g.103185042T>A | CA382249225 | DYNC2H1 | c.6624T>A (p.Phe2208Leu) c.*4169T>A (n.*4169T>A) c.2205+50623T>A (n.2205+50623T>A) c.6006T>A (p.Phe2002Leu) | |
| 11 | g.103185042T>C | CA476609828 | DYNC2H1 | c.6624T>C (p.Phe2208=) c.*4169T>C (n.*4169T>C) c.2205+50623T>C (n.2205+50623T>C) c.6006T>C (p.Phe2002=) | |
| 11 | g.103185042T>G | CA382249227 | DYNC2H1 | c.6624T>G (p.Phe2208Leu) c.*4169T>G (n.*4169T>G) c.2205+50623T>G (n.2205+50623T>G) c.6006T>G (p.Phe2002Leu) | |
| 11 | g.103185043A= | CA1996418781 | DYNC2H1 | c.6625A= (p.Thr2209=) c.*4170A= (n.*4170A=) c.2205+50624A= (n.2205+50624A=) c.6007A= (p.Thr2003=) | |
| 11 | g.103185043A>C | CA382249229 | DYNC2H1 | c.6625A>C (p.Thr2209Pro) c.*4170A>C (n.*4170A>C) c.2205+50624A>C (n.2205+50624A>C) c.6007A>C (p.Thr2003Pro) | |
| 11 | g.103185043A>G | CA382249231 | DYNC2H1 | c.6625A>G (p.Thr2209Ala) c.*4170A>G (n.*4170A>G) c.2205+50624A>G (n.2205+50624A>G) c.6007A>G (p.Thr2003Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185043A>T | CA6254014 | DYNC2H1 | c.6625A>T (p.Thr2209Ser) c.*4170A>T (n.*4170A>T) c.2205+50624A>T (n.2205+50624A>T) c.6007A>T (p.Thr2003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185044C>A | CA382249234 | DYNC2H1 | c.6626C>A (p.Thr2209Asn) c.*4171C>A (n.*4171C>A) c.2205+50625C>A (n.2205+50625C>A) c.6008C>A (p.Thr2003Asn) | |
| 11 | g.103185044C>G | CA382249235 | DYNC2H1 | c.6626C>G (p.Thr2209Ser) c.*4171C>G (n.*4171C>G) c.2205+50625C>G (n.2205+50625C>G) c.6008C>G (p.Thr2003Ser) | |
| 11 | g.103185044C>T | CA382249236 | DYNC2H1 | c.6626C>T (p.Thr2209Ile) c.*4171C>T (n.*4171C>T) c.2205+50625C>T (n.2205+50625C>T) c.6008C>T (p.Thr2003Ile) | ClinVar |