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 |
|---|---|---|---|---|---|
| 6 | g.7582834C>A | CA362688918 | DSP | c.4243C>A (p.Gln1415Lys) c.5572C>A (p.Gln1858Lys) c.3775C>A (p.Gln1259Lys) | |
| 6 | g.7582834C= | CA1608623659 | DSP | c.4243C= (p.Gln1415=) c.5572C= (p.Gln1858=) c.3775C= (p.Gln1259=) | |
| 6 | g.7582834C>G | CA362688920 | DSP | c.4243C>G (p.Gln1415Glu) c.5572C>G (p.Gln1858Glu) c.3775C>G (p.Gln1259Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582834C>T | CA362688919 | DSP | c.4243C>T (p.Gln1415Ter) c.5572C>T (p.Gln1858Ter) c.3775C>T (p.Gln1259Ter) | |
| 6 | g.7582835A>C | CA362688921 | DSP | c.4244A>C (p.Gln1415Pro) c.5573A>C (p.Gln1858Pro) c.3776A>C (p.Gln1259Pro) | |
| 6 | g.7582835A>G | CA362688922 | DSP | c.4244A>G (p.Gln1415Arg) c.5573A>G (p.Gln1858Arg) c.3776A>G (p.Gln1259Arg) | gnomAD v4 |
| 6 | g.7582835A>T | CA362688923 | DSP | c.4244A>T (p.Gln1415Leu) c.5573A>T (p.Gln1858Leu) c.3776A>T (p.Gln1259Leu) | |
| 6 | g.7582836G>A | CA448715365 | DSP | c.4245G>A (p.Gln1415=) c.5574G>A (p.Gln1858=) c.3777G>A (p.Gln1259=) | |
| 6 | g.7582836G>C | CA362688924 | DSP | c.4245G>C (p.Gln1415His) c.5574G>C (p.Gln1858His) c.3777G>C (p.Gln1259His) | |
| 6 | g.7582836G>T | CA362688925 | DSP | c.4245G>T (p.Gln1415His) c.5574G>T (p.Gln1858His) c.3777G>T (p.Gln1259His) | |
| 6 | g.7582837C>A | CA362688926 | DSP | c.4246C>A (p.Gln1416Lys) c.5575C>A (p.Gln1859Lys) c.3778C>A (p.Gln1260Lys) | |
| 6 | g.7582837C>G | CA362688927 | DSP | c.4246C>G (p.Gln1416Glu) c.5575C>G (p.Gln1859Glu) c.3778C>G (p.Gln1260Glu) | |
| 6 | g.7582837C>T | CA362688928 | DSP | c.4246C>T (p.Gln1416Ter) c.5575C>T (p.Gln1859Ter) c.3778C>T (p.Gln1260Ter) | |
| 6 | g.7582838A= | CA1608623666 | DSP | c.4247A= (p.Gln1416=) c.5576A= (p.Gln1859=) c.3779A= (p.Gln1260=) | |
| 6 | g.7582838A>C | CA362688929 | DSP | c.4247A>C (p.Gln1416Pro) c.5576A>C (p.Gln1859Pro) c.3779A>C (p.Gln1260Pro) | dbSNP |
| 6 | g.7582838A>G | CA362688930 | DSP | c.4247A>G (p.Gln1416Arg) c.5576A>G (p.Gln1859Arg) c.3779A>G (p.Gln1260Arg) | |
| 6 | g.7582838A>T | CA362688931 | DSP | c.4247A>T (p.Gln1416Leu) c.5576A>T (p.Gln1859Leu) c.3779A>T (p.Gln1260Leu) | |
| 6 | g.7582839A>C | CA362688933 | DSP | c.4248A>C (p.Gln1416His) c.5577A>C (p.Gln1859His) c.3780A>C (p.Gln1260His) | |
| 6 | g.7582839A>G | CA448715366 | DSP | c.4248A>G (p.Gln1416=) c.5577A>G (p.Gln1859=) c.3780A>G (p.Gln1260=) | |
| 6 | g.7582839A>T | CA362688932 | DSP | c.4248A>T (p.Gln1416His) c.5577A>T (p.Gln1859His) c.3780A>T (p.Gln1260His) | |
| 6 | g.7582840A>C | CA362688934 | DSP | c.4249A>C (p.Ile1417Leu) c.5578A>C (p.Ile1860Leu) c.3781A>C (p.Ile1261Leu) | |
| 6 | g.7582840A>G | CA362688935 | DSP | c.4249A>G (p.Ile1417Val) c.5578A>G (p.Ile1860Val) c.3781A>G (p.Ile1261Val) | |
| 6 | g.7582840A>T | CA362688936 | DSP | c.4249A>T (p.Ile1417Phe) c.5578A>T (p.Ile1860Phe) c.3781A>T (p.Ile1261Phe) | |
| 6 | g.7582841T>A | CA362688937 | DSP | c.4250T>A (p.Ile1417Asn) c.5579T>A (p.Ile1860Asn) c.3782T>A (p.Ile1261Asn) | |
| 6 | g.7582841T>C | CA362688938 | DSP | c.4250T>C (p.Ile1417Thr) c.5579T>C (p.Ile1860Thr) c.3782T>C (p.Ile1261Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582841T>G | CA362688939 | DSP | c.4250T>G (p.Ile1417Ser) c.5579T>G (p.Ile1860Ser) c.3782T>G (p.Ile1261Ser) | |
| 6 | g.7582841T= | CA1608623669 | DSP | c.4250T= (p.Ile1417=) c.5579T= (p.Ile1860=) c.3782T= (p.Ile1261=) | |
| 6 | g.7582842T>A | CA448715369 | DSP | c.4251T>A (p.Ile1417=) c.5580T>A (p.Ile1860=) c.3783T>A (p.Ile1261=) | |
| 6 | g.7582842T>C | CA448715370 | DSP | c.4251T>C (p.Ile1417=) c.5580T>C (p.Ile1860=) c.3783T>C (p.Ile1261=) | |
| 6 | g.7582842T>G | CA362688940 | DSP | c.4251T>G (p.Ile1417Met) c.5580T>G (p.Ile1860Met) c.3783T>G (p.Ile1261Met) | |
| 6 | g.7582843C>A | CA362688943 | DSP | c.4252C>A (p.Gln1418Lys) c.5581C>A (p.Gln1861Lys) c.3784C>A (p.Gln1262Lys) | |
| 6 | g.7582843C>G | CA362688941 | DSP | c.4252C>G (p.Gln1418Glu) c.5581C>G (p.Gln1861Glu) c.3784C>G (p.Gln1262Glu) | |
| 6 | g.7582843C>T | CA362688942 | DSP | c.4252C>T (p.Gln1418Ter) c.5581C>T (p.Gln1861Ter) c.3784C>T (p.Gln1262Ter) | |
| 6 | g.7582844A= | CA1608623677 | DSP | c.4253A= (p.Gln1418=) c.5582A= (p.Gln1861=) c.3785A= (p.Gln1262=) | |
| 6 | g.7582844A>C | CA006554 | DSP | c.4253A>C (p.Gln1418Pro) c.5582A>C (p.Gln1861Pro) c.3785A>C (p.Gln1262Pro) | ClinVar dbSNP |
| 6 | g.7582844A>G | CA362688944 | DSP | c.4253A>G (p.Gln1418Arg) c.5582A>G (p.Gln1861Arg) c.3785A>G (p.Gln1262Arg) | |
| 6 | g.7582844A>T | CA362688945 | DSP | c.4253A>T (p.Gln1418Leu) c.5582A>T (p.Gln1861Leu) c.3785A>T (p.Gln1262Leu) | |
| 6 | g.7582844_7582853delinsAGAATGACCT | CA1608623695 | DSP | c.4253_4262delinsAGAATGACCT (p.Gln1418=) c.5582_5591delinsAGAATGACCT (p.Gln1861=) c.3785_3794delinsAGAATGACCT (p.Gln1262=) | |
| 6 | g.7582845G>A | CA448715372 | DSP | c.4254G>A (p.Gln1418=) c.5583G>A (p.Gln1861=) c.3786G>A (p.Gln1262=) | COSMIC |
| 6 | g.7582845G>C | CA362688946 | DSP | c.4254G>C (p.Gln1418His) c.5583G>C (p.Gln1861His) c.3786G>C (p.Gln1262His) | |
| 6 | g.7582845G>T | CA362688947 | DSP | c.4254G>T (p.Gln1418His) c.5583G>T (p.Gln1861His) c.3786G>T (p.Gln1262His) | |
| 6 | g.7582849_7582857del | CA565358154 | DSP | c.4258_4266del (p.Asp1420_Asn1422del) c.5587_5595del (p.Asp1863_Asn1865del) c.3790_3798del (p.Asp1264_Asn1266del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582846A>C | CA362688948 | DSP | c.4255A>C (p.Asn1419His) c.5584A>C (p.Asn1862His) c.3787A>C (p.Asn1263His) | |
| 6 | g.7582846A>G | CA362688950 | DSP | c.4255A>G (p.Asn1419Asp) c.5584A>G (p.Asn1862Asp) c.3787A>G (p.Asn1263Asp) | |
| 6 | g.7582846A>T | CA362688949 | DSP | c.4255A>T (p.Asn1419Tyr) c.5584A>T (p.Asn1862Tyr) c.3787A>T (p.Asn1263Tyr) | ClinVar dbSNP |
| 6 | g.7582847A>C | CA362688951 | DSP | c.4256A>C (p.Asn1419Thr) c.5585A>C (p.Asn1862Thr) c.3788A>C (p.Asn1263Thr) | |
| 6 | g.7582847A>G | CA362688952 | DSP | c.4256A>G (p.Asn1419Ser) c.5585A>G (p.Asn1862Ser) c.3788A>G (p.Asn1263Ser) | |
| 6 | g.7582847A>T | CA362688953 | DSP | c.4256A>T (p.Asn1419Ile) c.5585A>T (p.Asn1862Ile) c.3788A>T (p.Asn1263Ile) | |
| 6 | g.7582848T>A | CA362688954 | DSP | c.4257T>A (p.Asn1419Lys) c.5586T>A (p.Asn1862Lys) c.3789T>A (p.Asn1263Lys) | |
| 6 | g.7582848T>C | CA448715374 | DSP | c.4257T>C (p.Asn1419=) c.5586T>C (p.Asn1862=) c.3789T>C (p.Asn1263=) |