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 |
|---|---|---|---|---|---|
| 16 | g.2237538_2237563dup | CA620707580 | DNASE1L2 | c.480_505dup (p.Leu169GlnfsTer7) c.419-2_442dup c.471_496dup (p.Leu166GlnfsTer7) c.753_778dup (p.Leu260GlnfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237541_2237571delinsACAGAACCTGGTGCTGATCCCGCTGCACGCG | CA2202125404 | DNASE1L2 | c.483_513delinsACAGAACCTGGTGCTGATCCCGCTGCACGCG (p.Ala161=) c.420_450delinsACAGAACCTGGTGCTGATCCCGCTGCACGCG (p.Ala140=) c.474_504delinsACAGAACCTGGTGCTGATCCCGCTGCACGCG (p.Ala158=) c.756_786delinsACAGAACCTGGTGCTGATCCCGCTGCACGCG (p.Ala252=) | |
| 16 | g.2237542_2237571del | CA2202125405 | DNASE1L2 | c.484_513del (p.Gln162_Ala171del) c.421_450del (p.Gln141_Ala150del) c.475_504del (p.Gln159_Ala168del) c.757_786del (p.Gln253_Ala262del) | dbSNP |
| 16 | g.2237548C>A | CA394335207 | DNASE1L2 | c.490C>A (p.Leu164Met) c.427C>A (p.Leu143Met) c.481C>A (p.Leu161Met) c.763C>A (p.Leu255Met) | |
| 16 | g.2237548C>G | CA394335209 | DNASE1L2 | c.490C>G (p.Leu164Val) c.427C>G (p.Leu143Val) c.481C>G (p.Leu161Val) c.763C>G (p.Leu255Val) | |
| 16 | g.2237548C>T | CA493057198 | DNASE1L2 | c.490C>T (p.Leu164=) c.427C>T (p.Leu143=) c.481C>T (p.Leu161=) c.763C>T (p.Leu255=) | |
| 16 | g.2237549T>A | CA394335211 | DNASE1L2 | c.491T>A (p.Leu164Gln) c.428T>A (p.Leu143Gln) c.482T>A (p.Leu161Gln) c.764T>A (p.Leu255Gln) | gnomAD v4 |
| 16 | g.2237549T>C | CA394335213 | DNASE1L2 | c.491T>C (p.Leu164Pro) c.428T>C (p.Leu143Pro) c.482T>C (p.Leu161Pro) c.764T>C (p.Leu255Pro) | dbSNP |
| 16 | g.2237549T>G | CA394335216 | DNASE1L2 | c.491T>G (p.Leu164Arg) c.428T>G (p.Leu143Arg) c.482T>G (p.Leu161Arg) c.764T>G (p.Leu255Arg) | |
| 16 | g.2237549T= | CA2202125408 | DNASE1L2 | c.491T= (p.Leu164=) c.428T= (p.Leu143=) c.482T= (p.Leu161=) c.764T= (p.Leu255=) | |
| 16 | g.2237550G>A | CA7838893 | DNASE1L2 | c.492G>A (p.Leu164=) c.429G>A (p.Leu143=) c.483G>A (p.Leu161=) c.765G>A (p.Leu255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2237550G>C | CA493057201 | DNASE1L2 | c.492G>C (p.Leu164=) c.429G>C (p.Leu143=) c.483G>C (p.Leu161=) c.765G>C (p.Leu255=) | |
| 16 | g.2237550G= | CA2202125409 | DNASE1L2 | c.492G= (p.Leu164=) c.429G= (p.Leu143=) c.483G= (p.Leu161=) c.765G= (p.Leu255=) | |
| 16 | g.2237550G>T | CA493057202 | DNASE1L2 | c.492G>T (p.Leu164=) c.429G>T (p.Leu143=) c.483G>T (p.Leu161=) c.765G>T (p.Leu255=) | gnomAD v4 |
| 16 | g.2237551G>A | CA394335223 | DNASE1L2 | c.493G>A (p.Val165Met) c.430G>A (p.Val144Met) c.484G>A (p.Val162Met) c.766G>A (p.Val256Met) | gnomAD v4 |
| 16 | g.2237551G>C | CA394335228 | DNASE1L2 | c.493G>C (p.Val165Leu) c.430G>C (p.Val144Leu) c.484G>C (p.Val162Leu) c.766G>C (p.Val256Leu) | |
| 16 | g.2237551G>T | CA394335225 | DNASE1L2 | c.493G>T (p.Val165Leu) c.430G>T (p.Val144Leu) c.484G>T (p.Val162Leu) c.766G>T (p.Val256Leu) | |
| 16 | g.2237552T>A | CA394335230 | DNASE1L2 | c.494T>A (p.Val165Glu) c.431T>A (p.Val144Glu) c.485T>A (p.Val162Glu) c.767T>A (p.Val256Glu) | |
| 16 | g.2237552T>C | CA394335234 | DNASE1L2 | c.494T>C (p.Val165Ala) c.431T>C (p.Val144Ala) c.485T>C (p.Val162Ala) c.767T>C (p.Val256Ala) | |
| 16 | g.2237552T>G | CA394335231 | DNASE1L2 | c.494T>G (p.Val165Gly) c.431T>G (p.Val144Gly) c.485T>G (p.Val162Gly) c.767T>G (p.Val256Gly) | |
| 16 | g.2237553G>A | CA493057206 | DNASE1L2 | c.495G>A (p.Val165=) c.432G>A (p.Val144=) c.486G>A (p.Val162=) c.768G>A (p.Val256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237553G>C | CA493057208 | DNASE1L2 | c.495G>C (p.Val165=) c.432G>C (p.Val144=) c.486G>C (p.Val162=) c.768G>C (p.Val256=) | |
| 16 | g.2237553G= | CA2202125410 | DNASE1L2 | c.495G= (p.Val165=) c.432G= (p.Val144=) c.486G= (p.Val162=) c.768G= (p.Val256=) | |
| 16 | g.2237553G>T | CA493057211 | DNASE1L2 | c.495G>T (p.Val165=) c.432G>T (p.Val144=) c.486G>T (p.Val162=) c.768G>T (p.Val256=) | |
| 16 | g.2237554C>A | CA7838894 | DNASE1L2 | c.496C>A (p.Leu166Met) c.433C>A (p.Leu145Met) c.487C>A (p.Leu163Met) c.769C>A (p.Leu257Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237554C= | CA2202125411 | DNASE1L2 | c.496C= (p.Leu166=) c.433C= (p.Leu145=) c.487C= (p.Leu163=) c.769C= (p.Leu257=) | |
| 16 | g.2237554C>G | CA394335239 | DNASE1L2 | c.496C>G (p.Leu166Val) c.433C>G (p.Leu145Val) c.487C>G (p.Leu163Val) c.769C>G (p.Leu257Val) | |
| 16 | g.2237554C>T | CA493057213 | DNASE1L2 | c.496C>T (p.Leu166=) c.433C>T (p.Leu145=) c.487C>T (p.Leu163=) c.769C>T (p.Leu257=) | dbSNP gnomAD v4 |
| 16 | g.2237555T>A | CA394335240 | DNASE1L2 | c.497T>A (p.Leu166Gln) c.434T>A (p.Leu145Gln) c.488T>A (p.Leu163Gln) c.770T>A (p.Leu257Gln) | |
| 16 | g.2237555T>C | CA394335242 | DNASE1L2 | c.497T>C (p.Leu166Pro) c.434T>C (p.Leu145Pro) c.488T>C (p.Leu163Pro) c.770T>C (p.Leu257Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237555T>G | CA394335245 | DNASE1L2 | c.497T>G (p.Leu166Arg) c.434T>G (p.Leu145Arg) c.488T>G (p.Leu163Arg) c.770T>G (p.Leu257Arg) | |
| 16 | g.2237555T= | CA2202125412 | DNASE1L2 | c.497T= (p.Leu166=) c.434T= (p.Leu145=) c.488T= (p.Leu163=) c.770T= (p.Leu257=) | |
| 16 | g.2237556G>A | CA7838895 | DNASE1L2 | c.498G>A (p.Leu166=) c.435G>A (p.Leu145=) c.489G>A (p.Leu163=) c.771G>A (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237556G>C | CA493057215 | DNASE1L2 | c.498G>C (p.Leu166=) c.435G>C (p.Leu145=) c.489G>C (p.Leu163=) c.771G>C (p.Leu257=) | |
| 16 | g.2237556G= | CA2202125413 | DNASE1L2 | c.498G= (p.Leu166=) c.435G= (p.Leu145=) c.489G= (p.Leu163=) c.771G= (p.Leu257=) | |
| 16 | g.2237556G>T | CA276783272 | DNASE1L2 | c.498G>T (p.Leu166=) c.435G>T (p.Leu145=) c.489G>T (p.Leu163=) c.771G>T (p.Leu257=) | dbSNP |
| 16 | g.2237557A= | CA2202125414 | DNASE1L2 | c.499A= (p.Ile167=) c.436A= (p.Ile146=) c.490A= (p.Ile164=) c.772A= (p.Ile258=) | |
| 16 | g.2237557A>C | CA7838896 | DNASE1L2 | c.499A>C (p.Ile167Leu) c.436A>C (p.Ile146Leu) c.490A>C (p.Ile164Leu) c.772A>C (p.Ile258Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2237557A>G | CA394335253 | DNASE1L2 | c.499A>G (p.Ile167Val) c.436A>G (p.Ile146Val) c.490A>G (p.Ile164Val) c.772A>G (p.Ile258Val) | |
| 16 | g.2237557A>T | CA394335258 | DNASE1L2 | c.499A>T (p.Ile167Phe) c.436A>T (p.Ile146Phe) c.490A>T (p.Ile164Phe) c.772A>T (p.Ile258Phe) | |
| 16 | g.2237558T>A | CA394335263 | DNASE1L2 | c.500T>A (p.Ile167Asn) c.437T>A (p.Ile146Asn) c.491T>A (p.Ile164Asn) c.773T>A (p.Ile258Asn) | gnomAD v4 |
| 16 | g.2237558T>C | CA394335266 | DNASE1L2 | c.500T>C (p.Ile167Thr) c.437T>C (p.Ile146Thr) c.491T>C (p.Ile164Thr) c.773T>C (p.Ile258Thr) | dbSNP |
| 16 | g.2237558T>G | CA394335268 | DNASE1L2 | c.500T>G (p.Ile167Ser) c.437T>G (p.Ile146Ser) c.491T>G (p.Ile164Ser) c.773T>G (p.Ile258Ser) | |
| 16 | g.2237559C>A | CA493057217 | DNASE1L2 | c.501C>A (p.Ile167=) c.438C>A (p.Ile146=) c.492C>A (p.Ile164=) c.774C>A (p.Ile258=) | gnomAD v4 |
| 16 | g.2237559C= | CA2202125415 | DNASE1L2 | c.501C= (p.Ile167=) c.438C= (p.Ile146=) c.492C= (p.Ile164=) c.774C= (p.Ile258=) | |
| 16 | g.2237559C>G | CA394335271 | DNASE1L2 | c.501C>G (p.Ile167Met) c.438C>G (p.Ile146Met) c.492C>G (p.Ile164Met) c.774C>G (p.Ile258Met) | |
| 16 | g.2237559C>T | CA7838897 | DNASE1L2 | c.501C>T (p.Ile167=) c.438C>T (p.Ile146=) c.492C>T (p.Ile164=) c.774C>T (p.Ile258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2237560C>A | CA394335277 | DNASE1L2 | c.502C>A (p.Pro168Thr) c.439C>A (p.Pro147Thr) c.493C>A (p.Pro165Thr) c.775C>A (p.Pro259Thr) | |
| 16 | g.2237560C= | CA2202125416 | DNASE1L2 | c.502C= (p.Pro168=) c.439C= (p.Pro147=) c.493C= (p.Pro165=) c.775C= (p.Pro259=) | |
| 16 | g.2237560C>G | CA394335281 | DNASE1L2 | c.502C>G (p.Pro168Ala) c.439C>G (p.Pro147Ala) c.493C>G (p.Pro165Ala) c.775C>G (p.Pro259Ala) |