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.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 |