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 |
|---|---|---|---|---|---|
| X | g.32545168A>C | CA412667565 | DMD | n.2366T>G c.2135T>G (p.Ile712Ser) c.2159T>G (p.Ile720Ser) c.2147T>G (p.Ile716Ser) c.94-179969T>G (n.94-179969T>G) c.94-180458T>G (n.94-180458T>G) n.336-328105T>G c.1790T>G (p.Ile597Ser) c.2030T>G (p.Ile677Ser) | |
| X | g.32545168A>G | CA412667567 | DMD | n.2366T>C c.2135T>C (p.Ile712Thr) c.2159T>C (p.Ile720Thr) c.2147T>C (p.Ile716Thr) c.94-179969T>C (n.94-179969T>C) c.94-180458T>C (n.94-180458T>C) n.336-328105T>C c.1790T>C (p.Ile597Thr) c.2030T>C (p.Ile677Thr) | |
| X | g.32545168A>T | CA412667569 | DMD | n.2366T>A c.2135T>A (p.Ile712Asn) c.2159T>A (p.Ile720Asn) c.2147T>A (p.Ile716Asn) c.94-179969T>A (n.94-179969T>A) c.94-180458T>A (n.94-180458T>A) n.336-328105T>A c.1790T>A (p.Ile597Asn) c.2030T>A (p.Ile677Asn) | |
| X | g.32545169T>A | CA412667572 | DMD | n.2365A>T c.2134A>T (p.Ile712Phe) c.2158A>T (p.Ile720Phe) c.2146A>T (p.Ile716Phe) c.94-179970A>T (n.94-179970A>T) c.94-180459A>T (n.94-180459A>T) n.336-328106A>T c.1789A>T (p.Ile597Phe) c.2029A>T (p.Ile677Phe) | |
| X | g.32545169T>C | CA10379627 | DMD | n.2365A>G c.2134A>G (p.Ile712Val) c.2158A>G (p.Ile720Val) c.2146A>G (p.Ile716Val) c.94-179970A>G (n.94-179970A>G) c.94-180459A>G (n.94-180459A>G) n.336-328106A>G c.1789A>G (p.Ile597Val) c.2029A>G (p.Ile677Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32545169T>G | CA412667573 | DMD | n.2365A>C c.2134A>C (p.Ile712Leu) c.2158A>C (p.Ile720Leu) c.2146A>C (p.Ile716Leu) c.94-179970A>C (n.94-179970A>C) c.94-180459A>C (n.94-180459A>C) n.336-328106A>C c.1789A>C (p.Ile597Leu) c.2029A>C (p.Ile677Leu) | |
| X | g.32545169T= | CA2422854585 | DMD | n.2365A= c.2134A= (p.Ile712=) c.2158A= (p.Ile720=) c.2146A= (p.Ile716=) c.94-179970A= (n.94-179970A=) c.94-180459A= (n.94-180459A=) n.336-328106A= c.1789A= (p.Ile597=) c.2029A= (p.Ile677=) | |
| X | g.32545170T>A | CA412667575 | DMD | n.2364A>T c.2133A>T (p.Glu711Asp) c.2157A>T (p.Glu719Asp) c.2145A>T (p.Glu715Asp) c.94-179971A>T (n.94-179971A>T) c.94-180460A>T (n.94-180460A>T) n.336-328107A>T c.1788A>T (p.Glu596Asp) c.2028A>T (p.Glu676Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32545170T>C | CA515721521 | DMD | n.2364A>G c.2133A>G (p.Glu711=) c.2157A>G (p.Glu719=) c.2145A>G (p.Glu715=) c.94-179971A>G (n.94-179971A>G) c.94-180460A>G (n.94-180460A>G) n.336-328107A>G c.1788A>G (p.Glu596=) c.2028A>G (p.Glu676=) | |
| X | g.32545170T>G | CA412667576 | DMD | n.2364A>C c.2133A>C (p.Glu711Asp) c.2157A>C (p.Glu719Asp) c.2145A>C (p.Glu715Asp) c.94-179971A>C (n.94-179971A>C) c.94-180460A>C (n.94-180460A>C) n.336-328107A>C c.1788A>C (p.Glu596Asp) c.2028A>C (p.Glu676Asp) | |
| X | g.32545170T= | CA2422854586 | DMD | n.2364A= c.2133A= (p.Glu711=) c.2157A= (p.Glu719=) c.2145A= (p.Glu715=) c.94-179971A= (n.94-179971A=) c.94-180460A= (n.94-180460A=) n.336-328107A= c.1788A= (p.Glu596=) c.2028A= (p.Glu676=) | |
| X | g.32545171T>A | CA412667579 | DMD | n.2363A>T c.2132A>T (p.Glu711Val) c.2156A>T (p.Glu719Val) c.2144A>T (p.Glu715Val) c.94-179972A>T (n.94-179972A>T) c.94-180461A>T (n.94-180461A>T) n.336-328108A>T c.1787A>T (p.Glu596Val) c.2027A>T (p.Glu676Val) | dbSNP gnomAD v2 |
| X | g.32545171T>C | CA412667580 | DMD | n.2363A>G c.2132A>G (p.Glu711Gly) c.2156A>G (p.Glu719Gly) c.2144A>G (p.Glu715Gly) c.94-179972A>G (n.94-179972A>G) c.94-180461A>G (n.94-180461A>G) n.336-328108A>G c.1787A>G (p.Glu596Gly) c.2027A>G (p.Glu676Gly) | |
| X | g.32545171T>G | CA412667581 | DMD | n.2363A>C c.2132A>C (p.Glu711Ala) c.2156A>C (p.Glu719Ala) c.2144A>C (p.Glu715Ala) c.94-179972A>C (n.94-179972A>C) c.94-180461A>C (n.94-180461A>C) n.336-328108A>C c.1787A>C (p.Glu596Ala) c.2027A>C (p.Glu676Ala) | |
| X | g.32545171T= | CA2422854587 | DMD | n.2363A= c.2132A= (p.Glu711=) c.2156A= (p.Glu719=) c.2144A= (p.Glu715=) c.94-179972A= (n.94-179972A=) c.94-180461A= (n.94-180461A=) n.336-328108A= c.1787A= (p.Glu596=) c.2027A= (p.Glu676=) | |
| X | g.32545172C>A | CA412667584 | DMD | n.2362G>T c.2131G>T (p.Glu711Ter) c.2155G>T (p.Glu719Ter) c.2143G>T (p.Glu715Ter) c.94-179973G>T (n.94-179973G>T) c.94-180462G>T (n.94-180462G>T) n.336-328109G>T c.1786G>T (p.Glu596Ter) c.2026G>T (p.Glu676Ter) | |
| X | g.32545172C= | CA2422854588 | DMD | n.2362G= c.2131G= (p.Glu711=) c.2155G= (p.Glu719=) c.2143G= (p.Glu715=) c.94-179973G= (n.94-179973G=) c.94-180462G= (n.94-180462G=) n.336-328109G= c.1786G= (p.Glu596=) c.2026G= (p.Glu676=) | |
| X | g.32545172C>G | CA412667585 | DMD | n.2362G>C c.2131G>C (p.Glu711Gln) c.2155G>C (p.Glu719Gln) c.2143G>C (p.Glu715Gln) c.94-179973G>C (n.94-179973G>C) c.94-180462G>C (n.94-180462G>C) n.336-328109G>C c.1786G>C (p.Glu596Gln) c.2026G>C (p.Glu676Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32545172C>T | CA412667586 | DMD | n.2362G>A c.2131G>A (p.Glu711Lys) c.2155G>A (p.Glu719Lys) c.2143G>A (p.Glu715Lys) c.94-179973G>A (n.94-179973G>A) c.94-180462G>A (n.94-180462G>A) n.336-328109G>A c.1786G>A (p.Glu596Lys) c.2026G>A (p.Glu676Lys) | gnomAD v4 |
| X | g.32545173A>C | CA515721537 | DMD | n.2361T>G c.2130T>G (p.Ser710=) c.2154T>G (p.Ser718=) c.2142T>G (p.Ser714=) c.94-179974T>G (n.94-179974T>G) c.94-180463T>G (n.94-180463T>G) n.336-328110T>G c.1785T>G (p.Ser595=) c.2025T>G (p.Ser675=) | |
| X | g.32545173A>G | CA515721533 | DMD | n.2361T>C c.2130T>C (p.Ser710=) c.2154T>C (p.Ser718=) c.2142T>C (p.Ser714=) c.94-179974T>C (n.94-179974T>C) c.94-180463T>C (n.94-180463T>C) n.336-328110T>C c.1785T>C (p.Ser595=) c.2025T>C (p.Ser675=) | |
| X | g.32545173A>T | CA515721535 | DMD | n.2361T>A c.2130T>A (p.Ser710=) c.2154T>A (p.Ser718=) c.2142T>A (p.Ser714=) c.94-179974T>A (n.94-179974T>A) c.94-180463T>A (n.94-180463T>A) n.336-328110T>A c.1785T>A (p.Ser595=) c.2025T>A (p.Ser675=) | |
| X | g.32545174G>A | CA412667587 | DMD | n.2360C>T c.2129C>T (p.Ser710Phe) c.2153C>T (p.Ser718Phe) c.2141C>T (p.Ser714Phe) c.94-179975C>T (n.94-179975C>T) c.94-180464C>T (n.94-180464C>T) n.336-328111C>T c.1784C>T (p.Ser595Phe) c.2024C>T (p.Ser675Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32545174G>C | CA412667588 | DMD | n.2360C>G c.2129C>G (p.Ser710Cys) c.2153C>G (p.Ser718Cys) c.2141C>G (p.Ser714Cys) c.94-179975C>G (n.94-179975C>G) c.94-180464C>G (n.94-180464C>G) n.336-328111C>G c.1784C>G (p.Ser595Cys) c.2024C>G (p.Ser675Cys) | |
| X | g.32545174G= | CA2422854589 | DMD | n.2360C= c.2129C= (p.Ser710=) c.2153C= (p.Ser718=) c.2141C= (p.Ser714=) c.94-179975C= (n.94-179975C=) c.94-180464C= (n.94-180464C=) n.336-328111C= c.1784C= (p.Ser595=) c.2024C= (p.Ser675=) | |
| X | g.32545174G>T | CA412667590 | DMD | n.2360C>A c.2129C>A (p.Ser710Tyr) c.2153C>A (p.Ser718Tyr) c.2141C>A (p.Ser714Tyr) c.94-179975C>A (n.94-179975C>A) c.94-180464C>A (n.94-180464C>A) n.336-328111C>A c.1784C>A (p.Ser595Tyr) c.2024C>A (p.Ser675Tyr) | |
| X | g.32545175A>C | CA412667595 | DMD | n.2359T>G c.2128T>G (p.Ser710Ala) c.2152T>G (p.Ser718Ala) c.2140T>G (p.Ser714Ala) c.94-179976T>G (n.94-179976T>G) c.94-180465T>G (n.94-180465T>G) n.336-328112T>G c.1783T>G (p.Ser595Ala) c.2023T>G (p.Ser675Ala) | |
| X | g.32545175A>G | CA412667597 | DMD | n.2359T>C c.2128T>C (p.Ser710Pro) c.2152T>C (p.Ser718Pro) c.2140T>C (p.Ser714Pro) c.94-179976T>C (n.94-179976T>C) c.94-180465T>C (n.94-180465T>C) n.336-328112T>C c.1783T>C (p.Ser595Pro) c.2023T>C (p.Ser675Pro) | |
| X | g.32545175A>T | CA412667592 | DMD | n.2359T>A c.2128T>A (p.Ser710Thr) c.2152T>A (p.Ser718Thr) c.2140T>A (p.Ser714Thr) c.94-179976T>A (n.94-179976T>A) c.94-180465T>A (n.94-180465T>A) n.336-328112T>A c.1783T>A (p.Ser595Thr) c.2023T>A (p.Ser675Thr) | |
| X | g.32545176A>C | CA412667601 | DMD | n.2358T>G c.2127T>G (p.Asp709Glu) c.2151T>G (p.Asp717Glu) c.2139T>G (p.Asp713Glu) c.94-179977T>G (n.94-179977T>G) c.94-180466T>G (n.94-180466T>G) n.336-328113T>G c.1782T>G (p.Asp594Glu) c.2022T>G (p.Asp674Glu) | |
| X | g.32545176A>G | CA515721546 | DMD | n.2358T>C c.2127T>C (p.Asp709=) c.2151T>C (p.Asp717=) c.2139T>C (p.Asp713=) c.94-179977T>C (n.94-179977T>C) c.94-180466T>C (n.94-180466T>C) n.336-328113T>C c.1782T>C (p.Asp594=) c.2022T>C (p.Asp674=) | |
| X | g.32545176A>T | CA412667599 | DMD | n.2358T>A c.2127T>A (p.Asp709Glu) c.2151T>A (p.Asp717Glu) c.2139T>A (p.Asp713Glu) c.94-179977T>A (n.94-179977T>A) c.94-180466T>A (n.94-180466T>A) n.336-328113T>A c.1782T>A (p.Asp594Glu) c.2022T>A (p.Asp674Glu) | |
| X | g.32545177T>A | CA412667605 | DMD | n.2357A>T c.2126A>T (p.Asp709Val) c.2150A>T (p.Asp717Val) c.2138A>T (p.Asp713Val) c.94-179978A>T (n.94-179978A>T) c.94-180467A>T (n.94-180467A>T) n.336-328114A>T c.1781A>T (p.Asp594Val) c.2021A>T (p.Asp674Val) | ClinVar dbSNP gnomAD v4 |
| X | g.32545177T>C | CA412667602 | DMD | n.2357A>G c.2126A>G (p.Asp709Gly) c.2150A>G (p.Asp717Gly) c.2138A>G (p.Asp713Gly) c.94-179978A>G (n.94-179978A>G) c.94-180467A>G (n.94-180467A>G) n.336-328114A>G c.1781A>G (p.Asp594Gly) c.2021A>G (p.Asp674Gly) | |
| X | g.32545177T>G | CA412667603 | DMD | n.2357A>C c.2126A>C (p.Asp709Ala) c.2150A>C (p.Asp717Ala) c.2138A>C (p.Asp713Ala) c.94-179978A>C (n.94-179978A>C) c.94-180467A>C (n.94-180467A>C) n.336-328114A>C c.1781A>C (p.Asp594Ala) c.2021A>C (p.Asp674Ala) | |
| X | g.32545177T= | CA2422854590 | DMD | n.2357A= c.2126A= (p.Asp709=) c.2150A= (p.Asp717=) c.2138A= (p.Asp713=) c.94-179978A= (n.94-179978A=) c.94-180467A= (n.94-180467A=) n.336-328114A= c.1781A= (p.Asp594=) c.2021A= (p.Asp674=) | |
| X | g.32545178C>A | CA412667606 | DMD | n.2356G>T c.2125G>T (p.Asp709Tyr) c.2149G>T (p.Asp717Tyr) c.2137G>T (p.Asp713Tyr) c.94-179979G>T (n.94-179979G>T) c.94-180468G>T (n.94-180468G>T) n.336-328115G>T c.1780G>T (p.Asp594Tyr) c.2020G>T (p.Asp674Tyr) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32545178C= | CA2422854591 | DMD | n.2356G= c.2125G= (p.Asp709=) c.2149G= (p.Asp717=) c.2137G= (p.Asp713=) c.94-179979G= (n.94-179979G=) c.94-180468G= (n.94-180468G=) n.336-328115G= c.1780G= (p.Asp594=) c.2020G= (p.Asp674=) | |
| X | g.32545178C>G | CA412667608 | DMD | n.2356G>C c.2125G>C (p.Asp709His) c.2149G>C (p.Asp717His) c.2137G>C (p.Asp713His) c.94-179979G>C (n.94-179979G>C) c.94-180468G>C (n.94-180468G>C) n.336-328115G>C c.1780G>C (p.Asp594His) c.2020G>C (p.Asp674His) | |
| X | g.32545178C>T | CA412667609 | DMD | n.2356G>A c.2125G>A (p.Asp709Asn) c.2149G>A (p.Asp717Asn) c.2137G>A (p.Asp713Asn) c.94-179979G>A (n.94-179979G>A) c.94-180468G>A (n.94-180468G>A) n.336-328115G>A c.1780G>A (p.Asp594Asn) c.2020G>A (p.Asp674Asn) | COSMIC |
| X | g.32545179C>A | CA515721556 | DMD | n.2355G>T c.2124G>T (p.Val708=) c.2148G>T (p.Val716=) c.2136G>T (p.Val712=) c.94-179980G>T (n.94-179980G>T) c.94-180469G>T (n.94-180469G>T) n.336-328116G>T c.1779G>T (p.Val593=) c.2019G>T (p.Val673=) | |
| X | g.32545179C>G | CA515721558 | DMD | n.2355G>C c.2124G>C (p.Val708=) c.2148G>C (p.Val716=) c.2136G>C (p.Val712=) c.94-179980G>C (n.94-179980G>C) c.94-180469G>C (n.94-180469G>C) n.336-328116G>C c.1779G>C (p.Val593=) c.2019G>C (p.Val673=) | |
| X | g.32545179C>T | CA515721560 | DMD | n.2355G>A c.2124G>A (p.Val708=) c.2148G>A (p.Val716=) c.2136G>A (p.Val712=) c.94-179980G>A (n.94-179980G>A) c.94-180469G>A (n.94-180469G>A) n.336-328116G>A c.1779G>A (p.Val593=) c.2019G>A (p.Val673=) | |
| X | g.32545180A>C | CA412667610 | DMD | n.2354T>G c.2123T>G (p.Val708Gly) c.2147T>G (p.Val716Gly) c.2135T>G (p.Val712Gly) c.94-179981T>G (n.94-179981T>G) c.94-180470T>G (n.94-180470T>G) n.336-328117T>G c.1778T>G (p.Val593Gly) c.2018T>G (p.Val673Gly) | |
| X | g.32545180A>G | CA412667611 | DMD | n.2354T>C c.2123T>C (p.Val708Ala) c.2147T>C (p.Val716Ala) c.2135T>C (p.Val712Ala) c.94-179981T>C (n.94-179981T>C) c.94-180470T>C (n.94-180470T>C) n.336-328117T>C c.1778T>C (p.Val593Ala) c.2018T>C (p.Val673Ala) | |
| X | g.32545180A>T | CA412667613 | DMD | n.2354T>A c.2123T>A (p.Val708Glu) c.2147T>A (p.Val716Glu) c.2135T>A (p.Val712Glu) c.94-179981T>A (n.94-179981T>A) c.94-180470T>A (n.94-180470T>A) n.336-328117T>A c.1778T>A (p.Val593Glu) c.2018T>A (p.Val673Glu) | |
| X | g.32545181C>A | CA412667614 | DMD | n.2353G>T c.2122G>T (p.Val708Leu) c.2146G>T (p.Val716Leu) c.2134G>T (p.Val712Leu) c.94-179982G>T (n.94-179982G>T) c.94-180471G>T (n.94-180471G>T) n.336-328118G>T c.1777G>T (p.Val593Leu) c.2017G>T (p.Val673Leu) | |
| X | g.32545181C= | CA2422854592 | DMD | n.2353G= c.2122G= (p.Val708=) c.2146G= (p.Val716=) c.2134G= (p.Val712=) c.94-179982G= (n.94-179982G=) c.94-180471G= (n.94-180471G=) n.336-328118G= c.1777G= (p.Val593=) c.2017G= (p.Val673=) | |
| X | g.32545181C>G | CA10605084 | DMD | n.2353G>C c.2122G>C (p.Val708Leu) c.2146G>C (p.Val716Leu) c.2134G>C (p.Val712Leu) c.94-179982G>C (n.94-179982G>C) c.94-180471G>C (n.94-180471G>C) n.336-328118G>C c.1777G>C (p.Val593Leu) c.2017G>C (p.Val673Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32545181C>T | CA412667616 | DMD | n.2353G>A c.2122G>A (p.Val708Met) c.2146G>A (p.Val716Met) c.2134G>A (p.Val712Met) c.94-179982G>A (n.94-179982G>A) c.94-180471G>A (n.94-180471G>A) n.336-328118G>A c.1777G>A (p.Val593Met) c.2017G>A (p.Val673Met) |