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.32438372G>A | CA255776 | DMD | c.3940C>T (p.Arg1314Ter) c.3928C>T (p.Arg1310Ter) c.94-73173C>T (n.94-73173C>T) c.94-73662C>T (n.94-73662C>T) n.336-221309C>T c.3916C>T (p.Arg1306Ter) c.3571C>T (p.Arg1191Ter) c.3811C>T (p.Arg1271Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.32438372G>C | CA412669496 | DMD | c.3940C>G (p.Arg1314Gly) c.3928C>G (p.Arg1310Gly) c.94-73173C>G (n.94-73173C>G) c.94-73662C>G (n.94-73662C>G) n.336-221309C>G c.3916C>G (p.Arg1306Gly) c.3571C>G (p.Arg1191Gly) c.3811C>G (p.Arg1271Gly) | |
| X | g.32438372G= | CA2422803755 | DMD | c.3940C= (p.Arg1314=) c.3928C= (p.Arg1310=) c.94-73173C= (n.94-73173C=) c.94-73662C= (n.94-73662C=) n.336-221309C= c.3916C= (p.Arg1306=) c.3571C= (p.Arg1191=) c.3811C= (p.Arg1271=) | |
| X | g.32438372G>T | CA515722120 | DMD | c.3940C>A (p.Arg1314=) c.3928C>A (p.Arg1310=) c.94-73173C>A (n.94-73173C>A) c.94-73662C>A (n.94-73662C>A) n.336-221309C>A c.3916C>A (p.Arg1306=) c.3571C>A (p.Arg1191=) c.3811C>A (p.Arg1271=) | |
| X | g.32438372_32438373delinsAG | CA2580616935 | DMD | c.3939_3940delinsCT (p.Met1313IlefsTer2) c.3927_3928delinsCT (p.Met1309IlefsTer2) c.94-73174_94-73173delinsCT (n.94-73174_94-73173delinsCT) c.94-73663_94-73662delinsCT (n.94-73663_94-73662delinsCT) n.336-221310_336-221309delinsCT c.3915_3916delinsCT (p.Met1305IlefsTer2) c.3570_3571delinsCT (p.Met1190IlefsTer2) c.3810_3811delinsCT (p.Met1270IlefsTer2) | ClinVar |
| X | g.32438373C>A | CA412669499 | DMD | c.3939G>T (p.Met1313Ile) c.3927G>T (p.Met1309Ile) c.94-73174G>T (n.94-73174G>T) c.94-73663G>T (n.94-73663G>T) n.336-221310G>T c.3915G>T (p.Met1305Ile) c.3570G>T (p.Met1190Ile) c.3810G>T (p.Met1270Ile) | |
| X | g.32438373C>G | CA412669501 | DMD | c.3939G>C (p.Met1313Ile) c.3927G>C (p.Met1309Ile) c.94-73174G>C (n.94-73174G>C) c.94-73663G>C (n.94-73663G>C) n.336-221310G>C c.3915G>C (p.Met1305Ile) c.3570G>C (p.Met1190Ile) c.3810G>C (p.Met1270Ile) | |
| X | g.32438373C>T | CA412669500 | DMD | c.3939G>A (p.Met1313Ile) c.3927G>A (p.Met1309Ile) c.94-73174G>A (n.94-73174G>A) c.94-73663G>A (n.94-73663G>A) n.336-221310G>A c.3915G>A (p.Met1305Ile) c.3570G>A (p.Met1190Ile) c.3810G>A (p.Met1270Ile) | |
| X | g.32438374A>C | CA412669503 | DMD | c.3938T>G (p.Met1313Arg) c.3926T>G (p.Met1309Arg) c.94-73175T>G (n.94-73175T>G) c.94-73664T>G (n.94-73664T>G) n.336-221311T>G c.3914T>G (p.Met1305Arg) c.3569T>G (p.Met1190Arg) c.3809T>G (p.Met1270Arg) | |
| X | g.32438374A>G | CA412669505 | DMD | c.3938T>C (p.Met1313Thr) c.3926T>C (p.Met1309Thr) c.94-73175T>C (n.94-73175T>C) c.94-73664T>C (n.94-73664T>C) n.336-221311T>C c.3914T>C (p.Met1305Thr) c.3569T>C (p.Met1190Thr) c.3809T>C (p.Met1270Thr) | gnomAD v4 |
| X | g.32438374A>T | CA412669506 | DMD | c.3938T>A (p.Met1313Lys) c.3926T>A (p.Met1309Lys) c.94-73175T>A (n.94-73175T>A) c.94-73664T>A (n.94-73664T>A) n.336-221311T>A c.3914T>A (p.Met1305Lys) c.3569T>A (p.Met1190Lys) c.3809T>A (p.Met1270Lys) | |
| X | g.32438375T>A | CA412669508 | DMD | c.3937A>T (p.Met1313Leu) c.3925A>T (p.Met1309Leu) c.94-73176A>T (n.94-73176A>T) c.94-73665A>T (n.94-73665A>T) n.336-221312A>T c.3913A>T (p.Met1305Leu) c.3568A>T (p.Met1190Leu) c.3808A>T (p.Met1270Leu) | |
| X | g.32438375T>C | CA308391 | DMD | c.3937A>G (p.Met1313Val) c.3925A>G (p.Met1309Val) c.94-73176A>G (n.94-73176A>G) c.94-73665A>G (n.94-73665A>G) n.336-221312A>G c.3913A>G (p.Met1305Val) c.3568A>G (p.Met1190Val) c.3808A>G (p.Met1270Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32438375T>G | CA412669509 | DMD | c.3937A>C (p.Met1313Leu) c.3925A>C (p.Met1309Leu) c.94-73176A>C (n.94-73176A>C) c.94-73665A>C (n.94-73665A>C) n.336-221312A>C c.3913A>C (p.Met1305Leu) c.3568A>C (p.Met1190Leu) c.3808A>C (p.Met1270Leu) | |
| X | g.32438375T= | CA2422803756 | DMD | c.3937A= (p.Met1313=) c.3925A= (p.Met1309=) c.94-73176A= (n.94-73176A=) c.94-73665A= (n.94-73665A=) n.336-221312A= c.3913A= (p.Met1305=) c.3568A= (p.Met1190=) c.3808A= (p.Met1270=) | |
| X | g.32438376C>A | CA412669511 | DMD | c.3936G>T (p.Leu1312Phe) c.3924G>T (p.Leu1308Phe) c.94-73177G>T (n.94-73177G>T) c.94-73666G>T (n.94-73666G>T) n.336-221313G>T c.3912G>T (p.Leu1304Phe) c.3567G>T (p.Leu1189Phe) c.3807G>T (p.Leu1269Phe) | |
| X | g.32438376C= | CA2422803757 | DMD | c.3936G= (p.Leu1312=) c.3924G= (p.Leu1308=) c.94-73177G= (n.94-73177G=) c.94-73666G= (n.94-73666G=) n.336-221313G= c.3912G= (p.Leu1304=) c.3567G= (p.Leu1189=) c.3807G= (p.Leu1269=) | |
| X | g.32438376C>G | CA10379150 | DMD | c.3936G>C (p.Leu1312Phe) c.3924G>C (p.Leu1308Phe) c.94-73177G>C (n.94-73177G>C) c.94-73666G>C (n.94-73666G>C) n.336-221313G>C c.3912G>C (p.Leu1304Phe) c.3567G>C (p.Leu1189Phe) c.3807G>C (p.Leu1269Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32438376C>T | CA515722135 | DMD | c.3936G>A (p.Leu1312=) c.3924G>A (p.Leu1308=) c.94-73177G>A (n.94-73177G>A) c.94-73666G>A (n.94-73666G>A) n.336-221313G>A c.3912G>A (p.Leu1304=) c.3567G>A (p.Leu1189=) c.3807G>A (p.Leu1269=) | |
| X | g.32438377A>C | CA412669514 | DMD | c.3935T>G (p.Leu1312Trp) c.3923T>G (p.Leu1308Trp) c.94-73178T>G (n.94-73178T>G) c.94-73667T>G (n.94-73667T>G) n.336-221314T>G c.3911T>G (p.Leu1304Trp) c.3566T>G (p.Leu1189Trp) c.3806T>G (p.Leu1269Trp) | |
| X | g.32438377A>G | CA412669515 | DMD | c.3935T>C (p.Leu1312Ser) c.3923T>C (p.Leu1308Ser) c.94-73178T>C (n.94-73178T>C) c.94-73667T>C (n.94-73667T>C) n.336-221314T>C c.3911T>C (p.Leu1304Ser) c.3566T>C (p.Leu1189Ser) c.3806T>C (p.Leu1269Ser) | |
| X | g.32438377A>T | CA412669517 | DMD | c.3935T>A (p.Leu1312Ter) c.3923T>A (p.Leu1308Ter) c.94-73178T>A (n.94-73178T>A) c.94-73667T>A (n.94-73667T>A) n.336-221314T>A c.3911T>A (p.Leu1304Ter) c.3566T>A (p.Leu1189Ter) c.3806T>A (p.Leu1269Ter) | |
| X | g.32438378A>C | CA412669518 | DMD | c.3934T>G (p.Leu1312Val) c.3922T>G (p.Leu1308Val) c.94-73179T>G (n.94-73179T>G) c.94-73668T>G (n.94-73668T>G) n.336-221315T>G c.3910T>G (p.Leu1304Val) c.3565T>G (p.Leu1189Val) c.3805T>G (p.Leu1269Val) | |
| X | g.32438378A>G | CA515722141 | DMD | c.3934T>C (p.Leu1312=) c.3922T>C (p.Leu1308=) c.94-73179T>C (n.94-73179T>C) c.94-73668T>C (n.94-73668T>C) n.336-221315T>C c.3910T>C (p.Leu1304=) c.3565T>C (p.Leu1189=) c.3805T>C (p.Leu1269=) | |
| X | g.32438378A>T | CA412669520 | DMD | c.3934T>A (p.Leu1312Met) c.3922T>A (p.Leu1308Met) c.94-73179T>A (n.94-73179T>A) c.94-73668T>A (n.94-73668T>A) n.336-221315T>A c.3910T>A (p.Leu1304Met) c.3565T>A (p.Leu1189Met) c.3805T>A (p.Leu1269Met) | |
| X | g.32438379A>C | CA412669521 | DMD | c.3933T>G (p.Asn1311Lys) c.3921T>G (p.Asn1307Lys) c.94-73180T>G (n.94-73180T>G) c.94-73669T>G (n.94-73669T>G) n.336-221316T>G c.3909T>G (p.Asn1303Lys) c.3564T>G (p.Asn1188Lys) c.3804T>G (p.Asn1268Lys) | |
| X | g.32438379A>G | CA515722146 | DMD | c.3933T>C (p.Asn1311=) c.3921T>C (p.Asn1307=) c.94-73180T>C (n.94-73180T>C) c.94-73669T>C (n.94-73669T>C) n.336-221316T>C c.3909T>C (p.Asn1303=) c.3564T>C (p.Asn1188=) c.3804T>C (p.Asn1268=) | |
| X | g.32438379A>T | CA412669523 | DMD | c.3933T>A (p.Asn1311Lys) c.3921T>A (p.Asn1307Lys) c.94-73180T>A (n.94-73180T>A) c.94-73669T>A (n.94-73669T>A) n.336-221316T>A c.3909T>A (p.Asn1303Lys) c.3564T>A (p.Asn1188Lys) c.3804T>A (p.Asn1268Lys) | |
| X | g.32438380T>A | CA412669524 | DMD | c.3932A>T (p.Asn1311Ile) c.3920A>T (p.Asn1307Ile) c.94-73181A>T (n.94-73181A>T) c.94-73670A>T (n.94-73670A>T) n.336-221317A>T c.3908A>T (p.Asn1303Ile) c.3563A>T (p.Asn1188Ile) c.3803A>T (p.Asn1268Ile) | |
| X | g.32438380T>C | CA412669526 | DMD | c.3932A>G (p.Asn1311Ser) c.3920A>G (p.Asn1307Ser) c.94-73181A>G (n.94-73181A>G) c.94-73670A>G (n.94-73670A>G) n.336-221317A>G c.3908A>G (p.Asn1303Ser) c.3563A>G (p.Asn1188Ser) c.3803A>G (p.Asn1268Ser) | |
| X | g.32438380T>G | CA412669528 | DMD | c.3932A>C (p.Asn1311Thr) c.3920A>C (p.Asn1307Thr) c.94-73181A>C (n.94-73181A>C) c.94-73670A>C (n.94-73670A>C) n.336-221317A>C c.3908A>C (p.Asn1303Thr) c.3563A>C (p.Asn1188Thr) c.3803A>C (p.Asn1268Thr) | |
| X | g.32438383del | CA2695232819 | DMD | c.3932del (p.Asn1311IlefsTer2) c.3920del (p.Asn1307IlefsTer2) c.94-73181del (n.94-73181del) c.94-73670del (n.94-73670del) n.336-221317del c.3908del (p.Asn1303IlefsTer2) c.3563del (p.Asn1188IlefsTer2) c.3803del (p.Asn1268IlefsTer2) | |
| X | g.32438381T>A | CA412669529 | DMD | c.3931A>T (p.Asn1311Tyr) c.3919A>T (p.Asn1307Tyr) c.94-73182A>T (n.94-73182A>T) c.94-73671A>T (n.94-73671A>T) n.336-221318A>T c.3907A>T (p.Asn1303Tyr) c.3562A>T (p.Asn1188Tyr) c.3802A>T (p.Asn1268Tyr) | |
| X | g.32438381T>C | CA412669531 | DMD | c.3931A>G (p.Asn1311Asp) c.3919A>G (p.Asn1307Asp) c.94-73182A>G (n.94-73182A>G) c.94-73671A>G (n.94-73671A>G) n.336-221318A>G c.3907A>G (p.Asn1303Asp) c.3562A>G (p.Asn1188Asp) c.3802A>G (p.Asn1268Asp) | |
| X | g.32438381T>G | CA412669532 | DMD | c.3931A>C (p.Asn1311His) c.3919A>C (p.Asn1307His) c.94-73182A>C (n.94-73182A>C) c.94-73671A>C (n.94-73671A>C) n.336-221318A>C c.3907A>C (p.Asn1303His) c.3562A>C (p.Asn1188His) c.3802A>C (p.Asn1268His) | |
| X | g.32438382T>A | CA412669534 | DMD | c.3930A>T (p.Glu1310Asp) c.3918A>T (p.Glu1306Asp) c.94-73183A>T (n.94-73183A>T) c.94-73672A>T (n.94-73672A>T) n.336-221319A>T c.3906A>T (p.Glu1302Asp) c.3561A>T (p.Glu1187Asp) c.3801A>T (p.Glu1267Asp) | |
| X | g.32438382T>C | CA515722156 | DMD | c.3930A>G (p.Glu1310=) c.3918A>G (p.Glu1306=) c.94-73183A>G (n.94-73183A>G) c.94-73672A>G (n.94-73672A>G) n.336-221319A>G c.3906A>G (p.Glu1302=) c.3561A>G (p.Glu1187=) c.3801A>G (p.Glu1267=) | ClinVar dbSNP gnomAD v4 |
| X | g.32438382T>G | CA412669536 | DMD | c.3930A>C (p.Glu1310Asp) c.3918A>C (p.Glu1306Asp) c.94-73183A>C (n.94-73183A>C) c.94-73672A>C (n.94-73672A>C) n.336-221319A>C c.3906A>C (p.Glu1302Asp) c.3561A>C (p.Glu1187Asp) c.3801A>C (p.Glu1267Asp) | |
| X | g.32438383T>A | CA412669537 | DMD | c.3929A>T (p.Glu1310Val) c.3917A>T (p.Glu1306Val) c.94-73184A>T (n.94-73184A>T) c.94-73673A>T (n.94-73673A>T) n.336-221320A>T c.3905A>T (p.Glu1302Val) c.3560A>T (p.Glu1187Val) c.3800A>T (p.Glu1267Val) | |
| X | g.32438383T>C | CA412669538 | DMD | c.3929A>G (p.Glu1310Gly) c.3917A>G (p.Glu1306Gly) c.94-73184A>G (n.94-73184A>G) c.94-73673A>G (n.94-73673A>G) n.336-221320A>G c.3905A>G (p.Glu1302Gly) c.3560A>G (p.Glu1187Gly) c.3800A>G (p.Glu1267Gly) | |
| X | g.32438383T>G | CA412669540 | DMD | c.3929A>C (p.Glu1310Ala) c.3917A>C (p.Glu1306Ala) c.94-73184A>C (n.94-73184A>C) c.94-73673A>C (n.94-73673A>C) n.336-221320A>C c.3905A>C (p.Glu1302Ala) c.3560A>C (p.Glu1187Ala) c.3800A>C (p.Glu1267Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.32438384C>A | CA412669545 | DMD | c.3928G>T (p.Glu1310Ter) c.3916G>T (p.Glu1306Ter) c.94-73185G>T (n.94-73185G>T) c.94-73674G>T (n.94-73674G>T) n.336-221321G>T c.3904G>T (p.Glu1302Ter) c.3559G>T (p.Glu1187Ter) c.3799G>T (p.Glu1267Ter) | ClinVar |
| X | g.32438384C>G | CA412669541 | DMD | c.3928G>C (p.Glu1310Gln) c.3916G>C (p.Glu1306Gln) c.94-73185G>C (n.94-73185G>C) c.94-73674G>C (n.94-73674G>C) n.336-221321G>C c.3904G>C (p.Glu1302Gln) c.3559G>C (p.Glu1187Gln) c.3799G>C (p.Glu1267Gln) | |
| X | g.32438384C>T | CA412669543 | DMD | c.3928G>A (p.Glu1310Lys) c.3916G>A (p.Glu1306Lys) c.94-73185G>A (n.94-73185G>A) c.94-73674G>A (n.94-73674G>A) n.336-221321G>A c.3904G>A (p.Glu1302Lys) c.3559G>A (p.Glu1187Lys) c.3799G>A (p.Glu1267Lys) | COSMIC COSMIC COSMIC |
| X | g.32438385A>C | CA515722166 | DMD | c.3927T>G (p.Leu1309=) c.3915T>G (p.Leu1305=) c.94-73186T>G (n.94-73186T>G) c.94-73675T>G (n.94-73675T>G) n.336-221322T>G c.3903T>G (p.Leu1301=) c.3558T>G (p.Leu1186=) c.3798T>G (p.Leu1266=) | ClinVar gnomAD v4 |
| X | g.32438385A>G | CA515722168 | DMD | c.3927T>C (p.Leu1309=) c.3915T>C (p.Leu1305=) c.94-73186T>C (n.94-73186T>C) c.94-73675T>C (n.94-73675T>C) n.336-221322T>C c.3903T>C (p.Leu1301=) c.3558T>C (p.Leu1186=) c.3798T>C (p.Leu1266=) | gnomAD v4 |
| X | g.32438385A>T | CA515722170 | DMD | c.3927T>A (p.Leu1309=) c.3915T>A (p.Leu1305=) c.94-73186T>A (n.94-73186T>A) c.94-73675T>A (n.94-73675T>A) n.336-221322T>A c.3903T>A (p.Leu1301=) c.3558T>A (p.Leu1186=) c.3798T>A (p.Leu1266=) | |
| X | g.32438386del | CA2695232820 | DMD | c.3927del (p.Glu1310LysfsTer3) c.3915del (p.Glu1306LysfsTer3) c.94-73186del (n.94-73186del) c.94-73675del (n.94-73675del) n.336-221322del c.3903del (p.Glu1302LysfsTer3) c.3558del (p.Glu1187LysfsTer3) c.3798del (p.Glu1267LysfsTer3) | |
| X | g.32438386A>C | CA412669546 | DMD | c.3926T>G (p.Leu1309Arg) c.3914T>G (p.Leu1305Arg) c.94-73187T>G (n.94-73187T>G) c.94-73676T>G (n.94-73676T>G) n.336-221323T>G c.3902T>G (p.Leu1301Arg) c.3557T>G (p.Leu1186Arg) c.3797T>G (p.Leu1266Arg) | |
| X | g.32438386A>G | CA412669548 | DMD | c.3926T>C (p.Leu1309Pro) c.3914T>C (p.Leu1305Pro) c.94-73187T>C (n.94-73187T>C) c.94-73676T>C (n.94-73676T>C) n.336-221323T>C c.3902T>C (p.Leu1301Pro) c.3557T>C (p.Leu1186Pro) c.3797T>C (p.Leu1266Pro) |