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 |
|---|---|---|---|---|---|
| 9 | g.132264563_132264565del | CA5296353 | SETX | c.7711_7713del (p.Pro2571del) c.2524_2526del (p.Pro842del) n.861_863del c.7798_7800del (p.Pro2600del) n.7627_7629del c.2251_2253del (p.Pro751del) n.7266_7268del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132264565G>A | CA375323518 | SETX | c.7708C>T (p.Pro2570Ser) c.2521C>T (p.Pro841Ser) n.858C>T c.7795C>T (p.Pro2599Ser) n.7624C>T c.2248C>T (p.Pro750Ser) n.7263C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132264565G>C | CA375323521 | SETX | c.7708C>G (p.Pro2570Ala) c.2521C>G (p.Pro841Ala) n.858C>G c.7795C>G (p.Pro2599Ala) n.7624C>G c.2248C>G (p.Pro750Ala) n.7263C>G | |
| 9 | g.132264565G= | CA1882141945 | SETX | c.7708C= (p.Pro2570=) c.2521C= (p.Pro841=) n.858C= c.7795C= (p.Pro2599=) n.7624C= c.2248C= (p.Pro750=) n.7263C= | |
| 9 | g.132264565G>T | CA375323524 | SETX | c.7708C>A (p.Pro2570Thr) c.2521C>A (p.Pro841Thr) n.858C>A c.7795C>A (p.Pro2599Thr) n.7624C>A c.2248C>A (p.Pro750Thr) n.7263C>A | |
| 9 | g.132264566T>A | CA467504604 | SETX | c.7707A>T (p.Thr2569=) c.2520A>T (p.Thr840=) n.857A>T c.7794A>T (p.Thr2598=) n.7623A>T c.2247A>T (p.Thr749=) n.7262A>T | |
| 9 | g.132264566T>C | CA467504605 | SETX | c.7707A>G (p.Thr2569=) c.2520A>G (p.Thr840=) n.857A>G c.7794A>G (p.Thr2598=) n.7623A>G c.2247A>G (p.Thr749=) n.7262A>G | dbSNP gnomAD v4 |
| 9 | g.132264566T>G | CA467504606 | SETX | c.7707A>C (p.Thr2569=) c.2520A>C (p.Thr840=) n.857A>C c.7794A>C (p.Thr2598=) n.7623A>C c.2247A>C (p.Thr749=) n.7262A>C | dbSNP |
| 9 | g.132264566T= | CA1882141946 | SETX | c.7707A= (p.Thr2569=) c.2520A= (p.Thr840=) n.857A= c.7794A= (p.Thr2598=) n.7623A= c.2247A= (p.Thr749=) n.7262A= | |
| 9 | g.132264567G>A | CA375323528 | SETX | c.7706C>T (p.Thr2569Ile) c.2519C>T (p.Thr840Ile) n.856C>T c.7793C>T (p.Thr2598Ile) n.7622C>T c.2246C>T (p.Thr749Ile) n.7261C>T | |
| 9 | g.132264567G>C | CA375323531 | SETX | c.7706C>G (p.Thr2569Arg) c.2519C>G (p.Thr840Arg) n.856C>G c.7793C>G (p.Thr2598Arg) n.7622C>G c.2246C>G (p.Thr749Arg) n.7261C>G | |
| 9 | g.132264567G>T | CA375323532 | SETX | c.7706C>A (p.Thr2569Lys) c.2519C>A (p.Thr840Lys) n.856C>A c.7793C>A (p.Thr2598Lys) n.7622C>A c.2246C>A (p.Thr749Lys) n.7261C>A | |
| 9 | g.132264568T>A | CA375323537 | SETX | c.7705A>T (p.Thr2569Ser) c.2518A>T (p.Thr840Ser) n.855A>T c.7792A>T (p.Thr2598Ser) n.7621A>T c.2245A>T (p.Thr749Ser) n.7260A>T | |
| 9 | g.132264568T>C | CA375323540 | SETX | c.7705A>G (p.Thr2569Ala) c.2518A>G (p.Thr840Ala) n.855A>G c.7792A>G (p.Thr2598Ala) n.7621A>G c.2245A>G (p.Thr749Ala) n.7260A>G | |
| 9 | g.132264568T>G | CA375323543 | SETX | c.7705A>C (p.Thr2569Pro) c.2518A>C (p.Thr840Pro) n.855A>C c.7792A>C (p.Thr2598Pro) n.7621A>C c.2245A>C (p.Thr749Pro) n.7260A>C | |
| 9 | g.132264569T>A | CA467504614 | SETX | c.7704A>T (p.Ala2568=) c.2517A>T (p.Ala839=) n.854A>T c.7791A>T (p.Ala2597=) n.7620A>T c.2244A>T (p.Ala748=) n.7259A>T | |
| 9 | g.132264569T>C | CA467504615 | SETX | c.7704A>G (p.Ala2568=) c.2517A>G (p.Ala839=) n.854A>G c.7791A>G (p.Ala2597=) n.7620A>G c.2244A>G (p.Ala748=) n.7259A>G | gnomAD v4 |
| 9 | g.132264569T>G | CA467504616 | SETX | c.7704A>C (p.Ala2568=) c.2517A>C (p.Ala839=) n.854A>C c.7791A>C (p.Ala2597=) n.7620A>C c.2244A>C (p.Ala748=) n.7259A>C | |
| 9 | g.132264570G>A | CA375323547 | SETX | c.7703C>T (p.Ala2568Val) c.2516C>T (p.Ala839Val) n.853C>T c.7790C>T (p.Ala2597Val) n.7619C>T c.2243C>T (p.Ala748Val) n.7258C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132264570G>C | CA375323551 | SETX | c.7703C>G (p.Ala2568Gly) c.2516C>G (p.Ala839Gly) n.853C>G c.7790C>G (p.Ala2597Gly) n.7619C>G c.2243C>G (p.Ala748Gly) n.7258C>G | dbSNP gnomAD v4 |
| 9 | g.132264570G= | CA1882141947 | SETX | c.7703C= (p.Ala2568=) c.2516C= (p.Ala839=) n.853C= c.7790C= (p.Ala2597=) n.7619C= c.2243C= (p.Ala748=) n.7258C= | |
| 9 | g.132264570G>T | CA375323555 | SETX | c.7703C>A (p.Ala2568Glu) c.2516C>A (p.Ala839Glu) n.853C>A c.7790C>A (p.Ala2597Glu) n.7619C>A c.2243C>A (p.Ala748Glu) n.7258C>A | dbSNP |
| 9 | g.132264571C>A | CA375323559 | SETX | c.7702G>T (p.Ala2568Ser) c.2515G>T (p.Ala839Ser) n.852G>T c.7789G>T (p.Ala2597Ser) n.7618G>T c.2242G>T (p.Ala748Ser) n.7257G>T | |
| 9 | g.132264571C>G | CA375323565 | SETX | c.7702G>C (p.Ala2568Pro) c.2515G>C (p.Ala839Pro) n.852G>C c.7789G>C (p.Ala2597Pro) n.7618G>C c.2242G>C (p.Ala748Pro) n.7257G>C | |
| 9 | g.132264571C>T | CA375323562 | SETX | c.7702G>A (p.Ala2568Thr) c.2515G>A (p.Ala839Thr) n.852G>A c.7789G>A (p.Ala2597Thr) n.7618G>A c.2242G>A (p.Ala748Thr) n.7257G>A | |
| 9 | g.132264572T>A | CA467504624 | SETX | c.7701A>T (p.Gly2567=) c.2514A>T (p.Gly838=) n.851A>T c.7788A>T (p.Gly2596=) n.7617A>T c.2241A>T (p.Gly747=) n.7256A>T | gnomAD v4 |
| 9 | g.132264572T>C | CA5296356 | SETX | c.7701A>G (p.Gly2567=) c.2514A>G (p.Gly838=) n.851A>G c.7788A>G (p.Gly2596=) n.7617A>G c.2241A>G (p.Gly747=) n.7256A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132264572T>G | CA467504623 | SETX | c.7701A>C (p.Gly2567=) c.2514A>C (p.Gly838=) n.851A>C c.7788A>C (p.Gly2596=) n.7617A>C c.2241A>C (p.Gly747=) n.7256A>C | |
| 9 | g.132264572T= | CA1882141948 | SETX | c.7701A= (p.Gly2567=) c.2514A= (p.Gly838=) n.851A= c.7788A= (p.Gly2596=) n.7617A= c.2241A= (p.Gly747=) n.7256A= | |
| 9 | g.132264573C>A | CA375323581 | SETX | c.7700G>T (p.Gly2567Val) c.2513G>T (p.Gly838Val) n.850G>T c.7787G>T (p.Gly2596Val) n.7616G>T c.2240G>T (p.Gly747Val) n.7255G>T | |
| 9 | g.132264573C= | CA1882141949 | SETX | c.7700G= (p.Gly2567=) c.2513G= (p.Gly838=) n.850G= c.7787G= (p.Gly2596=) n.7616G= c.2240G= (p.Gly747=) n.7255G= | |
| 9 | g.132264573C>G | CA375323585 | SETX | c.7700G>C (p.Gly2567Ala) c.2513G>C (p.Gly838Ala) n.850G>C c.7787G>C (p.Gly2596Ala) n.7616G>C c.2240G>C (p.Gly747Ala) n.7255G>C | |
| 9 | g.132264573C>T | CA375323587 | SETX | c.7700G>A (p.Gly2567Glu) c.2513G>A (p.Gly838Glu) n.850G>A c.7787G>A (p.Gly2596Glu) n.7616G>A c.2240G>A (p.Gly747Glu) n.7255G>A | dbSNP |
| 9 | g.132264574C>A | CA375323590 | SETX | c.7699G>T (p.Gly2567Ter) c.2512G>T (p.Gly838Ter) n.849G>T c.7786G>T (p.Gly2596Ter) n.7615G>T c.2239G>T (p.Gly747Ter) n.7254G>T | |
| 9 | g.132264574C>G | CA375323593 | SETX | c.7699G>C (p.Gly2567Arg) c.2512G>C (p.Gly838Arg) n.849G>C c.7786G>C (p.Gly2596Arg) n.7615G>C c.2239G>C (p.Gly747Arg) n.7254G>C | |
| 9 | g.132264574C>T | CA375323595 | SETX | c.7699G>A (p.Gly2567Arg) c.2512G>A (p.Gly838Arg) n.849G>A c.7786G>A (p.Gly2596Arg) n.7615G>A c.2239G>A (p.Gly747Arg) n.7254G>A | |
| 9 | g.132264575A>C | CA467504631 | SETX | c.7698T>G (p.Pro2566=) c.2511T>G (p.Pro837=) n.848T>G c.7785T>G (p.Pro2595=) n.7614T>G c.2238T>G (p.Pro746=) n.7253T>G | |
| 9 | g.132264575A>G | CA467504632 | SETX | c.7698T>C (p.Pro2566=) c.2511T>C (p.Pro837=) n.848T>C c.7785T>C (p.Pro2595=) n.7614T>C c.2238T>C (p.Pro746=) n.7253T>C | |
| 9 | g.132264575A>T | CA467504634 | SETX | c.7698T>A (p.Pro2566=) c.2511T>A (p.Pro837=) n.848T>A c.7785T>A (p.Pro2595=) n.7614T>A c.2238T>A (p.Pro746=) n.7253T>A | |
| 9 | g.132264576G>A | CA375323601 | SETX | c.7697C>T (p.Pro2566Leu) c.2510C>T (p.Pro837Leu) n.847C>T c.7784C>T (p.Pro2595Leu) n.7613C>T c.2237C>T (p.Pro746Leu) n.7252C>T | gnomAD v4 |
| 9 | g.132264576G>C | CA375323604 | SETX | c.7697C>G (p.Pro2566Arg) c.2510C>G (p.Pro837Arg) n.847C>G c.7784C>G (p.Pro2595Arg) n.7613C>G c.2237C>G (p.Pro746Arg) n.7252C>G | |
| 9 | g.132264576G>T | CA375323609 | SETX | c.7697C>A (p.Pro2566His) c.2510C>A (p.Pro837His) n.847C>A c.7784C>A (p.Pro2595His) n.7613C>A c.2237C>A (p.Pro746His) n.7252C>A | |
| 9 | g.132264577G>A | CA375323610 | SETX | c.7696C>T (p.Pro2566Ser) c.2509C>T (p.Pro837Ser) n.846C>T c.7783C>T (p.Pro2595Ser) n.7612C>T c.2236C>T (p.Pro746Ser) n.7251C>T | |
| 9 | g.132264577G>C | CA375323614 | SETX | c.7696C>G (p.Pro2566Ala) c.2509C>G (p.Pro837Ala) n.846C>G c.7783C>G (p.Pro2595Ala) n.7612C>G c.2236C>G (p.Pro746Ala) n.7251C>G | |
| 9 | g.132264577G>T | CA375323617 | SETX | c.7696C>A (p.Pro2566Thr) c.2509C>A (p.Pro837Thr) n.846C>A c.7783C>A (p.Pro2595Thr) n.7612C>A c.2236C>A (p.Pro746Thr) n.7251C>A | |
| 9 | g.132264578A>C | CA375323619 | SETX | c.7695T>G (p.His2565Gln) c.2508T>G (p.His836Gln) n.845T>G c.7782T>G (p.His2594Gln) n.7611T>G c.2235T>G (p.His745Gln) n.7250T>G | |
| 9 | g.132264578A>G | CA467504641 | SETX | c.7695T>C (p.His2565=) c.2508T>C (p.His836=) n.845T>C c.7782T>C (p.His2594=) n.7611T>C c.2235T>C (p.His745=) n.7250T>C | |
| 9 | g.132264578A>T | CA375323623 | SETX | c.7695T>A (p.His2565Gln) c.2508T>A (p.His836Gln) n.845T>A c.7782T>A (p.His2594Gln) n.7611T>A c.2235T>A (p.His745Gln) n.7250T>A | |
| 9 | g.132264579T>A | CA375323629 | SETX | c.7694A>T (p.His2565Leu) c.2507A>T (p.His836Leu) n.844A>T c.7781A>T (p.His2594Leu) n.7610A>T c.2234A>T (p.His745Leu) n.7249A>T | |
| 9 | g.132264579T>C | CA375323632 | SETX | c.7694A>G (p.His2565Arg) c.2507A>G (p.His836Arg) n.844A>G c.7781A>G (p.His2594Arg) n.7610A>G c.2234A>G (p.His745Arg) n.7249A>G | dbSNP gnomAD v3 gnomAD v4 |