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.103220719_103220720del | CA670960771 | DYNC2H1 | c.9043_9044del (p.Asp3015TyrfsTer3) c.2205+86300_2205+86301del (n.2205+86300_2205+86301del) c.9022_9023del (p.Asp3008TyrfsTer3) c.8425_8426del (p.Asp2809TyrfsTer3) | dbSNP |
| 11 | g.103220720A= | CA1996434122 | DYNC2H1 | c.9044A= (p.Asp3015=) c.2205+86301A= (n.2205+86301A=) c.9023A= (p.Asp3008=) c.8426A= (p.Asp2809=) | |
| 11 | g.103220720A>C | CA382262851 | DYNC2H1 | c.9044A>C (p.Asp3015Ala) c.2205+86301A>C (n.2205+86301A>C) c.9023A>C (p.Asp3008Ala) c.8426A>C (p.Asp2809Ala) | |
| 11 | g.103220720A>G | CA210499 | DYNC2H1 | c.9044A>G (p.Asp3015Gly) c.2205+86301A>G (n.2205+86301A>G) c.9023A>G (p.Asp3008Gly) c.8426A>G (p.Asp2809Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220720A>T | CA382262852 | DYNC2H1 | c.9044A>T (p.Asp3015Val) c.2205+86301A>T (n.2205+86301A>T) c.9023A>T (p.Asp3008Val) c.8426A>T (p.Asp2809Val) | gnomAD v4 |
| 11 | g.103220721T>A | CA382262853 | DYNC2H1 | c.9045T>A (p.Asp3015Glu) c.2205+86302T>A (n.2205+86302T>A) c.9024T>A (p.Asp3008Glu) c.8427T>A (p.Asp2809Glu) | |
| 11 | g.103220721T>C | CA476622275 | DYNC2H1 | c.9045T>C (p.Asp3015=) c.2205+86302T>C (n.2205+86302T>C) c.9024T>C (p.Asp3008=) c.8427T>C (p.Asp2809=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220721T>G | CA246454 | DYNC2H1 | c.9045T>G (p.Asp3015Glu) c.2205+86302T>G (n.2205+86302T>G) c.9024T>G (p.Asp3008Glu) c.8427T>G (p.Asp2809Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220721T= | CA1996434123 | DYNC2H1 | c.9045T= (p.Asp3015=) c.2205+86302T= (n.2205+86302T=) c.9024T= (p.Asp3008=) c.8427T= (p.Asp2809=) | |
| 11 | g.103220722A= | CA1996434124 | DYNC2H1 | c.9046A= (p.Ile3016=) c.2205+86303A= (n.2205+86303A=) c.9025A= (p.Ile3009=) c.8428A= (p.Ile2810=) | |
| 11 | g.103220722A>C | CA382262854 | DYNC2H1 | c.9046A>C (p.Ile3016Leu) c.2205+86303A>C (n.2205+86303A>C) c.9025A>C (p.Ile3009Leu) c.8428A>C (p.Ile2810Leu) | |
| 11 | g.103220722A>G | CA6254588 | DYNC2H1 | c.9046A>G (p.Ile3016Val) c.2205+86303A>G (n.2205+86303A>G) c.9025A>G (p.Ile3009Val) c.8428A>G (p.Ile2810Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220722A>T | CA382262855 | DYNC2H1 | c.9046A>T (p.Ile3016Phe) c.2205+86303A>T (n.2205+86303A>T) c.9025A>T (p.Ile3009Phe) c.8428A>T (p.Ile2810Phe) | |
| 11 | g.103220723T>A | CA382262856 | DYNC2H1 | c.9047T>A (p.Ile3016Asn) c.2205+86304T>A (n.2205+86304T>A) c.9026T>A (p.Ile3009Asn) c.8429T>A (p.Ile2810Asn) | |
| 11 | g.103220723T>C | CA382262857 | DYNC2H1 | c.9047T>C (p.Ile3016Thr) c.2205+86304T>C (n.2205+86304T>C) c.9026T>C (p.Ile3009Thr) c.8429T>C (p.Ile2810Thr) | |
| 11 | g.103220723T>G | CA382262858 | DYNC2H1 | c.9047T>G (p.Ile3016Ser) c.2205+86304T>G (n.2205+86304T>G) c.9026T>G (p.Ile3009Ser) c.8429T>G (p.Ile2810Ser) | |
| 11 | g.103220724T>A | CA476622282 | DYNC2H1 | c.9048T>A (p.Ile3016=) c.2205+86305T>A (n.2205+86305T>A) c.9027T>A (p.Ile3009=) c.8430T>A (p.Ile2810=) | |
| 11 | g.103220724T>C | CA476622284 | DYNC2H1 | c.9048T>C (p.Ile3016=) c.2205+86305T>C (n.2205+86305T>C) c.9027T>C (p.Ile3009=) c.8430T>C (p.Ile2810=) | |
| 11 | g.103220724T>G | CA382262859 | DYNC2H1 | c.9048T>G (p.Ile3016Met) c.2205+86305T>G (n.2205+86305T>G) c.9027T>G (p.Ile3009Met) c.8430T>G (p.Ile2810Met) | gnomAD v4 |
| 11 | g.103220725C>A | CA382262860 | DYNC2H1 | c.9049C>A (p.Leu3017Ile) c.2205+86306C>A (n.2205+86306C>A) c.9028C>A (p.Leu3010Ile) c.8431C>A (p.Leu2811Ile) | |
| 11 | g.103220725C>G | CA382262861 | DYNC2H1 | c.9049C>G (p.Leu3017Val) c.2205+86306C>G (n.2205+86306C>G) c.9028C>G (p.Leu3010Val) c.8431C>G (p.Leu2811Val) | |
| 11 | g.103220725C>T | CA382262862 | DYNC2H1 | c.9049C>T (p.Leu3017Phe) c.2205+86306C>T (n.2205+86306C>T) c.9028C>T (p.Leu3010Phe) c.8431C>T (p.Leu2811Phe) | |
| 11 | g.103220726T>A | CA382262863 | DYNC2H1 | c.9050T>A (p.Leu3017His) c.2205+86307T>A (n.2205+86307T>A) c.9029T>A (p.Leu3010His) c.8432T>A (p.Leu2811His) | |
| 11 | g.103220726T>C | CA382262864 | DYNC2H1 | c.9050T>C (p.Leu3017Pro) c.2205+86307T>C (n.2205+86307T>C) c.9029T>C (p.Leu3010Pro) c.8432T>C (p.Leu2811Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103220726T>G | CA382262865 | DYNC2H1 | c.9050T>G (p.Leu3017Arg) c.2205+86307T>G (n.2205+86307T>G) c.9029T>G (p.Leu3010Arg) c.8432T>G (p.Leu2811Arg) | COSMIC |
| 11 | g.103220727T>A | CA476622289 | DYNC2H1 | c.9051T>A (p.Leu3017=) c.2205+86308T>A (n.2205+86308T>A) c.9030T>A (p.Leu3010=) c.8433T>A (p.Leu2811=) | |
| 11 | g.103220727T>C | CA476622291 | DYNC2H1 | c.9051T>C (p.Leu3017=) c.2205+86308T>C (n.2205+86308T>C) c.9030T>C (p.Leu3010=) c.8433T>C (p.Leu2811=) | ClinVar |
| 11 | g.103220727T>G | CA476622293 | DYNC2H1 | c.9051T>G (p.Leu3017=) c.2205+86308T>G (n.2205+86308T>G) c.9030T>G (p.Leu3010=) c.8433T>G (p.Leu2811=) | |
| 11 | g.103220728G>A | CA382262866 | DYNC2H1 | c.9052G>A (p.Glu3018Lys) c.2205+86309G>A (n.2205+86309G>A) c.9031G>A (p.Glu3011Lys) c.8434G>A (p.Glu2812Lys) | |
| 11 | g.103220728G>C | CA382262867 | DYNC2H1 | c.9052G>C (p.Glu3018Gln) c.2205+86309G>C (n.2205+86309G>C) c.9031G>C (p.Glu3011Gln) c.8434G>C (p.Glu2812Gln) | |
| 11 | g.103220728G>T | CA382262868 | DYNC2H1 | c.9052G>T (p.Glu3018Ter) c.2205+86309G>T (n.2205+86309G>T) c.9031G>T (p.Glu3011Ter) c.8434G>T (p.Glu2812Ter) | |
| 11 | g.103220729A>C | CA382262869 | DYNC2H1 | c.9053A>C (p.Glu3018Ala) c.2205+86310A>C (n.2205+86310A>C) c.9032A>C (p.Glu3011Ala) c.8435A>C (p.Glu2812Ala) | |
| 11 | g.103220729A>G | CA382262870 | DYNC2H1 | c.9053A>G (p.Glu3018Gly) c.2205+86310A>G (n.2205+86310A>G) c.9032A>G (p.Glu3011Gly) c.8435A>G (p.Glu2812Gly) | |
| 11 | g.103220729A>T | CA382262871 | DYNC2H1 | c.9053A>T (p.Glu3018Val) c.2205+86310A>T (n.2205+86310A>T) c.9032A>T (p.Glu3011Val) c.8435A>T (p.Glu2812Val) | |
| 11 | g.103220730A>C | CA382262873 | DYNC2H1 | c.9054A>C (p.Glu3018Asp) c.2205+86311A>C (n.2205+86311A>C) c.9033A>C (p.Glu3011Asp) c.8436A>C (p.Glu2812Asp) | |
| 11 | g.103220730A>G | CA476622298 | DYNC2H1 | c.9054A>G (p.Glu3018=) c.2205+86311A>G (n.2205+86311A>G) c.9033A>G (p.Glu3011=) c.8436A>G (p.Glu2812=) | |
| 11 | g.103220730A>T | CA382262872 | DYNC2H1 | c.9054A>T (p.Glu3018Asp) c.2205+86311A>T (n.2205+86311A>T) c.9033A>T (p.Glu3011Asp) c.8436A>T (p.Glu2812Asp) | |
| 11 | g.103220731G>A | CA382262874 | DYNC2H1 | c.9055G>A (p.Gly3019Arg) c.2205+86312G>A (n.2205+86312G>A) c.9034G>A (p.Gly3012Arg) c.8437G>A (p.Gly2813Arg) | |
| 11 | g.103220731G>C | CA382262875 | DYNC2H1 | c.9055G>C (p.Gly3019Arg) c.2205+86312G>C (n.2205+86312G>C) c.9034G>C (p.Gly3012Arg) c.8437G>C (p.Gly2813Arg) | |
| 11 | g.103220731G>T | CA382262876 | DYNC2H1 | c.9055G>T (p.Gly3019Ter) c.2205+86312G>T (n.2205+86312G>T) c.9034G>T (p.Gly3012Ter) c.8437G>T (p.Gly2813Ter) | |
| 11 | g.103220732G>A | CA382262877 | DYNC2H1 | c.9056G>A (p.Gly3019Glu) c.2205+86313G>A (n.2205+86313G>A) c.9035G>A (p.Gly3012Glu) c.8438G>A (p.Gly2813Glu) | |
| 11 | g.103220732G>C | CA382262878 | DYNC2H1 | c.9056G>C (p.Gly3019Ala) c.2205+86313G>C (n.2205+86313G>C) c.9035G>C (p.Gly3012Ala) c.8438G>C (p.Gly2813Ala) | |
| 11 | g.103220732G>T | CA382262879 | DYNC2H1 | c.9056G>T (p.Gly3019Val) c.2205+86313G>T (n.2205+86313G>T) c.9035G>T (p.Gly3012Val) c.8438G>T (p.Gly2813Val) | |
| 11 | g.103220733A>C | CA476622305 | DYNC2H1 | c.9057A>C (p.Gly3019=) c.2205+86314A>C (n.2205+86314A>C) c.9036A>C (p.Gly3012=) c.8439A>C (p.Gly2813=) | |
| 11 | g.103220733A>G | CA476622306 | DYNC2H1 | c.9057A>G (p.Gly3019=) c.2205+86314A>G (n.2205+86314A>G) c.9036A>G (p.Gly3012=) c.8439A>G (p.Gly2813=) | |
| 11 | g.103220733A>T | CA476622308 | DYNC2H1 | c.9057A>T (p.Gly3019=) c.2205+86314A>T (n.2205+86314A>T) c.9036A>T (p.Gly3012=) c.8439A>T (p.Gly2813=) | |
| 11 | g.103220734G>A | CA382262880 | DYNC2H1 | c.9058G>A (p.Val3020Ile) c.2205+86315G>A (n.2205+86315G>A) c.9037G>A (p.Val3013Ile) c.8440G>A (p.Val2814Ile) | gnomAD v4 |
| 11 | g.103220734G>C | CA382262881 | DYNC2H1 | c.9058G>C (p.Val3020Leu) c.2205+86315G>C (n.2205+86315G>C) c.9037G>C (p.Val3013Leu) c.8440G>C (p.Val2814Leu) | |
| 11 | g.103220734G>T | CA382262882 | DYNC2H1 | c.9058G>T (p.Val3020Phe) c.2205+86315G>T (n.2205+86315G>T) c.9037G>T (p.Val3013Phe) c.8440G>T (p.Val2814Phe) | |
| 11 | g.103220735T>A | CA382262883 | DYNC2H1 | c.9059T>A (p.Val3020Asp) c.2205+86316T>A (n.2205+86316T>A) c.9038T>A (p.Val3013Asp) c.8441T>A (p.Val2814Asp) |