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.64753135C>A | CA381175138 | PYGM | c.1456G>T (p.Gly486Cys) c.1192G>T (p.Gly398Cys) | |
| 11 | g.64753135C= | CA1978920310 | PYGM | c.1456G= (p.Gly486=) c.1192G= (p.Gly398=) | |
| 11 | g.64753135C>G | CA381175141 | PYGM | c.1456G>C (p.Gly486Arg) c.1192G>C (p.Gly398Arg) | |
| 11 | g.64753135C>T | CA223899899 | PYGM | c.1456G>A (p.Gly486Ser) c.1192G>A (p.Gly398Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64753136G>A | CA6079854 | PYGM | c.1455C>T (p.Asn485=) c.1191C>T (p.Asn397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753136G>C | CA381175149 | PYGM | c.1455C>G (p.Asn485Lys) c.1191C>G (p.Asn397Lys) | |
| 11 | g.64753136G= | CA1978920314 | PYGM | c.1455C= (p.Asn485=) c.1191C= (p.Asn397=) | |
| 11 | g.64753136G>T | CA381175154 | PYGM | c.1455C>A (p.Asn485Lys) c.1191C>A (p.Asn397Lys) | |
| 11 | g.64753137T>A | CA381175160 | PYGM | c.1454A>T (p.Asn485Ile) c.1190A>T (p.Asn397Ile) | |
| 11 | g.64753137T>C | CA381175162 | PYGM | c.1454A>G (p.Asn485Ser) c.1190A>G (p.Asn397Ser) | |
| 11 | g.64753137T>G | CA381175158 | PYGM | c.1454A>C (p.Asn485Thr) c.1190A>C (p.Asn397Thr) | |
| 11 | g.64753138T>A | CA381175164 | PYGM | c.1453A>T (p.Asn485Tyr) c.1189A>T (p.Asn397Tyr) | |
| 11 | g.64753138T>C | CA381175169 | PYGM | c.1453A>G (p.Asn485Asp) c.1189A>G (p.Asn397Asp) | |
| 11 | g.64753138T>G | CA381175172 | PYGM | c.1453A>C (p.Asn485His) c.1189A>C (p.Asn397His) | |
| 11 | g.64753139G>A | CA474959168 | PYGM | c.1452C>T (p.Thr484=) c.1188C>T (p.Thr396=) | |
| 11 | g.64753139G>C | CA474959169 | PYGM | c.1452C>G (p.Thr484=) c.1188C>G (p.Thr396=) | |
| 11 | g.64753139G>T | CA474959170 | PYGM | c.1452C>A (p.Thr484=) c.1188C>A (p.Thr396=) | |
| 11 | g.64753140del | CA2574865106 | PYGM | c.1452del (p.Asn485ThrfsTer?) c.1188del (p.Asn397ThrfsTer?) | |
| 11 | g.64753140G>A | CA381175177 | PYGM | c.1451C>T (p.Thr484Ile) c.1187C>T (p.Thr396Ile) | COSMIC |
| 11 | g.64753140G>C | CA381175179 | PYGM | c.1451C>G (p.Thr484Ser) c.1187C>G (p.Thr396Ser) | |
| 11 | g.64753140G>T | CA381175181 | PYGM | c.1451C>A (p.Thr484Asn) c.1187C>A (p.Thr396Asn) | |
| 11 | g.64753141T>A | CA381175186 | PYGM | c.1450A>T (p.Thr484Ser) c.1186A>T (p.Thr396Ser) | |
| 11 | g.64753141T>C | CA381175203 | PYGM | c.1450A>G (p.Thr484Ala) c.1186A>G (p.Thr396Ala) | |
| 11 | g.64753141T>G | CA381175202 | PYGM | c.1450A>C (p.Thr484Pro) c.1186A>C (p.Thr396Pro) | |
| 11 | g.64753142C>A | CA381175209 | PYGM | c.1449G>T (p.Lys483Asn) c.1185G>T (p.Lys395Asn) | COSMIC |
| 11 | g.64753142C>G | CA381175212 | PYGM | c.1449G>C (p.Lys483Asn) c.1185G>C (p.Lys395Asn) | |
| 11 | g.64753142C>T | CA474959171 | PYGM | c.1449G>A (p.Lys483=) c.1185G>A (p.Lys395=) | |
| 11 | g.64753143T>A | CA381175218 | PYGM | c.1448A>T (p.Lys483Met) c.1184A>T (p.Lys395Met) | |
| 11 | g.64753143T>C | CA381175221 | PYGM | c.1448A>G (p.Lys483Arg) c.1184A>G (p.Lys395Arg) | |
| 11 | g.64753143T>G | CA381175225 | PYGM | c.1448A>C (p.Lys483Thr) c.1184A>C (p.Lys395Thr) | ClinVar dbSNP |
| 11 | g.64753144T>A | CA381175233 | PYGM | c.1447A>T (p.Lys483Ter) c.1183A>T (p.Lys395Ter) | |
| 11 | g.64753144T>C | CA381175236 | PYGM | c.1447A>G (p.Lys483Glu) c.1183A>G (p.Lys395Glu) | |
| 11 | g.64753144T>G | CA381175231 | PYGM | c.1447A>C (p.Lys483Gln) c.1183A>C (p.Lys395Gln) | |
| 11 | g.64753145_64753146dup | CA2614196437 | PYGM | c.1446_1447dup (p.Lys483IlefsTer?) c.1182_1183dup (p.Lys395IlefsTer?) | ClinVar gnomAD v4 |
| 11 | g.64753145A= | CA1978920316 | PYGM | c.1446T= (p.Asn482=) c.1182T= (p.Asn394=) | |
| 11 | g.64753145A>C | CA381175242 | PYGM | c.1446T>G (p.Asn482Lys) c.1182T>G (p.Asn394Lys) | |
| 11 | g.64753145A>G | CA474959172 | PYGM | c.1446T>C (p.Asn482=) c.1182T>C (p.Asn394=) | dbSNP |
| 11 | g.64753145A>T | CA381175239 | PYGM | c.1446T>A (p.Asn482Lys) c.1182T>A (p.Asn394Lys) | |
| 11 | g.64753146T>A | CA381175250 | PYGM | c.1445A>T (p.Asn482Ile) c.1181A>T (p.Asn394Ile) | |
| 11 | g.64753146T>C | CA381175246 | PYGM | c.1445A>G (p.Asn482Ser) c.1181A>G (p.Asn394Ser) | |
| 11 | g.64753146T>G | CA381175248 | PYGM | c.1445A>C (p.Asn482Thr) c.1181A>C (p.Asn394Thr) | |
| 11 | g.64753147T>A | CA381175253 | PYGM | c.1444A>T (p.Asn482Tyr) c.1180A>T (p.Asn394Tyr) | |
| 11 | g.64753147T>C | CA381175256 | PYGM | c.1444A>G (p.Asn482Asp) c.1180A>G (p.Asn394Asp) | gnomAD v4 |
| 11 | g.64753147T>G | CA381175259 | PYGM | c.1444A>C (p.Asn482His) c.1180A>C (p.Asn394His) | |
| 11 | g.64753148C>A | CA381175262 | PYGM | c.1443G>T (p.Gln481His) c.1179G>T (p.Gln393His) | COSMIC |
| 11 | g.64753148C= | CA1978920322 | PYGM | c.1443G= (p.Gln481=) c.1179G= (p.Gln393=) | |
| 11 | g.64753148C>G | CA6079855 | PYGM | c.1443G>C (p.Gln481His) c.1179G>C (p.Gln393His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753148C>T | CA474959173 | PYGM | c.1443G>A (p.Gln481=) c.1179G>A (p.Gln393=) | gnomAD v4 |
| 11 | g.64753149T>A | CA381175273 | PYGM | c.1442A>T (p.Gln481Leu) c.1178A>T (p.Gln393Leu) | |
| 11 | g.64753149T>C | CA381175276 | PYGM | c.1442A>G (p.Gln481Arg) c.1178A>G (p.Gln393Arg) | |
| 11 | g.64753149T>G | CA381175277 | PYGM | c.1442A>C (p.Gln481Pro) c.1178A>C (p.Gln393Pro) | |
| 11 | g.64753150G>A | CA381175279 | PYGM | c.1441C>T (p.Gln481Ter) c.1177C>T (p.Gln393Ter) | |
| 11 | g.64753150G>C | CA381175280 | PYGM | c.1441C>G (p.Gln481Glu) c.1177C>G (p.Gln393Glu) | |
| 11 | g.64753150G>T | CA381175282 | PYGM | c.1441C>A (p.Gln481Lys) c.1177C>A (p.Gln393Lys) | |
| 11 | g.64753151G>A | CA474959174 | PYGM | c.1440C>T (p.Phe480=) c.1176C>T (p.Phe392=) | ClinVar dbSNP |
| 11 | g.64753151G>C | CA381175284 | PYGM | c.1440C>G (p.Phe480Leu) c.1176C>G (p.Phe392Leu) | gnomAD v4 |
| 11 | g.64753151G>T | CA381175286 | PYGM | c.1440C>A (p.Phe480Leu) c.1176C>A (p.Phe392Leu) | |
| 11 | g.64753152A>C | CA381175287 | PYGM | c.1439T>G (p.Phe480Cys) c.1175T>G (p.Phe392Cys) | |
| 11 | g.64753152A>G | CA381175288 | PYGM | c.1439T>C (p.Phe480Ser) c.1175T>C (p.Phe392Ser) | |
| 11 | g.64753152A>T | CA381175290 | PYGM | c.1439T>A (p.Phe480Tyr) c.1175T>A (p.Phe392Tyr) | |
| 11 | g.64753153A= | CA1978920330 | PYGM | c.1438T= (p.Phe480=) c.1174T= (p.Phe392=) | |
| 11 | g.64753153A>C | CA381175293 | PYGM | c.1438T>G (p.Phe480Val) c.1174T>G (p.Phe392Val) | dbSNP |
| 11 | g.64753153A>G | CA381175296 | PYGM | c.1438T>C (p.Phe480Leu) c.1174T>C (p.Phe392Leu) | |
| 11 | g.64753153A>T | CA381175297 | PYGM | c.1438T>A (p.Phe480Ile) c.1174T>A (p.Phe392Ile) | |
| 11 | g.64753154C>A | CA381175303 | PYGM | c.1437G>T (p.Lys479Asn) c.1173G>T (p.Lys391Asn) | |
| 11 | g.64753154C= | CA1978920334 | PYGM | c.1437G= (p.Lys479=) c.1173G= (p.Lys391=) | |
| 11 | g.64753154C>G | CA381175306 | PYGM | c.1437G>C (p.Lys479Asn) c.1173G>C (p.Lys391Asn) | |
| 11 | g.64753154C>T | CA474959175 | PYGM | c.1437G>A (p.Lys479=) c.1173G>A (p.Lys391=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753155T>A | CA381175313 | PYGM | c.1436A>T (p.Lys479Met) c.1172A>T (p.Lys391Met) | |
| 11 | g.64753155T>C | CA6079856 | PYGM | c.1436A>G (p.Lys479Arg) c.1172A>G (p.Lys391Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753155T>G | CA381175317 | PYGM | c.1436A>C (p.Lys479Thr) c.1172A>C (p.Lys391Thr) | |
| 11 | g.64753155T= | CA1978920342 | PYGM | c.1436A= (p.Lys479=) c.1172A= (p.Lys391=) | |
| 11 | g.64753156T>A | CA381175324 | PYGM | c.1435A>T (p.Lys479Ter) c.1171A>T (p.Lys391Ter) | |
| 11 | g.64753156T>C | CA381175327 | PYGM | c.1435A>G (p.Lys479Glu) c.1171A>G (p.Lys391Glu) | dbSNP |
| 11 | g.64753156T>G | CA381175322 | PYGM | c.1435A>C (p.Lys479Gln) c.1171A>C (p.Lys391Gln) | |
| 11 | g.64753156T= | CA1978920352 | PYGM | c.1435A= (p.Lys479=) c.1171A= (p.Lys391=) | |
| 11 | g.64753157A= | CA1978920356 | PYGM | c.1434T= (p.His478=) c.1170T= (p.His390=) | |
| 11 | g.64753157A>C | CA381175330 | PYGM | c.1434T>G (p.His478Gln) c.1170T>G (p.His390Gln) | |
| 11 | g.64753157A>G | CA474959176 | PYGM | c.1434T>C (p.His478=) c.1170T>C (p.His390=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753157A>T | CA381175332 | PYGM | c.1434T>A (p.His478Gln) c.1170T>A (p.His390Gln) | |
| 11 | g.64753158del | CA2614196495 | PYGM | c.1433del (p.His478LeufsTer?) c.1169del (p.His390LeufsTer?) | gnomAD v4 |
| 11 | g.64753158T>A | CA381175336 | PYGM | c.1433A>T (p.His478Leu) c.1169A>T (p.His390Leu) | |
| 11 | g.64753158T>C | CA6079857 | PYGM | c.1433A>G (p.His478Arg) c.1169A>G (p.His390Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753158T>G | CA381175339 | PYGM | c.1433A>C (p.His478Pro) c.1169A>C (p.His390Pro) | |
| 11 | g.64753158T= | CA1978920360 | PYGM | c.1433A= (p.His478=) c.1169A= (p.His390=) | |
| 11 | g.64753159G>A | CA381175344 | PYGM | c.1432C>T (p.His478Tyr) c.1168C>T (p.His390Tyr) | |
| 11 | g.64753159G>C | CA381175345 | PYGM | c.1432C>G (p.His478Asp) c.1168C>G (p.His390Asp) | |
| 11 | g.64753159G>T | CA381175349 | PYGM | c.1432C>A (p.His478Asn) c.1168C>A (p.His390Asn) | |
| 11 | g.64753160A>C | CA474959177 | PYGM | c.1431T>G (p.Pro477=) c.1167T>G (p.Pro389=) | |
| 11 | g.64753160A>G | CA474959178 | PYGM | c.1431T>C (p.Pro477=) c.1167T>C (p.Pro389=) | |
| 11 | g.64753160A>T | CA474959179 | PYGM | c.1431T>A (p.Pro477=) c.1167T>A (p.Pro389=) | ClinVar dbSNP |
| 11 | g.64753161G>A | CA6079858 | PYGM | c.1430C>T (p.Pro477Leu) c.1166C>T (p.Pro389Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753161G>C | CA381175352 | PYGM | c.1430C>G (p.Pro477Arg) c.1166C>G (p.Pro389Arg) | |
| 11 | g.64753161G= | CA1978920371 | PYGM | c.1430C= (p.Pro477=) c.1166C= (p.Pro389=) | |
| 11 | g.64753161G>T | CA381175355 | PYGM | c.1430C>A (p.Pro477His) c.1166C>A (p.Pro389His) | |
| 11 | g.64753162G>A | CA381175363 | PYGM | c.1429C>T (p.Pro477Ser) c.1165C>T (p.Pro389Ser) | |
| 11 | g.64753162G>C | CA381175364 | PYGM | c.1429C>G (p.Pro477Ala) c.1165C>G (p.Pro389Ala) | |
| 11 | g.64753162G= | CA1978920379 | PYGM | c.1429C= (p.Pro477=) c.1165C= (p.Pro389=) | |
| 11 | g.64753162G>T | CA381175366 | PYGM | c.1429C>A (p.Pro477Thr) c.1165C>A (p.Pro389Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753163C>A | CA381175372 | PYGM | c.1428G>T (p.Glu476Asp) c.1164G>T (p.Glu388Asp) | |
| 11 | g.64753163C>G | CA381175373 | PYGM | c.1428G>C (p.Glu476Asp) c.1164G>C (p.Glu388Asp) | |
| 11 | g.64753163C>T | CA474959180 | PYGM | c.1428G>A (p.Glu476=) c.1164G>A (p.Glu388=) | |
| 11 | g.64753164T>A | CA381175377 | PYGM | c.1427A>T (p.Glu476Val) c.1163A>T (p.Glu388Val) | |
| 11 | g.64753164T>C | CA381175379 | PYGM | c.1427A>G (p.Glu476Gly) c.1163A>G (p.Glu388Gly) | |
| 11 | g.64753164T>G | CA381175381 | PYGM | c.1427A>C (p.Glu476Ala) c.1163A>C (p.Glu388Ala) | |
| 11 | g.64753165C>A | CA381175384 | PYGM | c.1426G>T (p.Glu476Ter) c.1162G>T (p.Glu388Ter) | |
| 11 | g.64753165C>G | CA381175387 | PYGM | c.1426G>C (p.Glu476Gln) c.1162G>C (p.Glu388Gln) | |
| 11 | g.64753165C>T | CA381175389 | PYGM | c.1426G>A (p.Glu476Lys) c.1162G>A (p.Glu388Lys) | gnomAD v4 |
| 11 | g.64753166C>A | CA474959181 | PYGM | c.1425G>T (p.Leu475=) c.1161G>T (p.Leu387=) | |
| 11 | g.64753166C>G | CA474959182 | PYGM | c.1425G>C (p.Leu475=) c.1161G>C (p.Leu387=) | gnomAD v4 |
| 11 | g.64753166C>T | CA474959183 | PYGM | c.1425G>A (p.Leu475=) c.1161G>A (p.Leu387=) | |
| 11 | g.64753167A= | CA1978920386 | PYGM | c.1424T= (p.Leu475=) c.1160T= (p.Leu387=) | |
| 11 | g.64753167A>C | CA381175393 | PYGM | c.1424T>G (p.Leu475Arg) c.1160T>G (p.Leu387Arg) | |
| 11 | g.64753167A>G | CA381175394 | PYGM | c.1424T>C (p.Leu475Pro) c.1160T>C (p.Leu387Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753167A>T | CA381175397 | PYGM | c.1424T>A (p.Leu475Gln) c.1160T>A (p.Leu387Gln) | |
| 11 | g.64753168G>A | CA474959184 | PYGM | c.1423C>T (p.Leu475=) c.1159C>T (p.Leu387=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64753168G>C | CA381175398 | PYGM | c.1423C>G (p.Leu475Val) c.1159C>G (p.Leu387Val) | |
| 11 | g.64753168G= | CA1978920396 | PYGM | c.1423C= (p.Leu475=) c.1159C= (p.Leu387=) | |
| 11 | g.64753168G>T | CA381175399 | PYGM | c.1423C>A (p.Leu475Met) c.1159C>A (p.Leu387Met) | |
| 11 | g.64753169C>A | CA381175403 | PYGM | c.1422G>T (p.Glu474Asp) c.1158G>T (p.Glu386Asp) | COSMIC |
| 11 | g.64753169C>G | CA381175404 | PYGM | c.1422G>C (p.Glu474Asp) c.1158G>C (p.Glu386Asp) | gnomAD v4 |
| 11 | g.64753169C>T | CA474959185 | PYGM | c.1422G>A (p.Glu474=) c.1158G>A (p.Glu386=) | gnomAD v4 |
| 11 | g.64753170T>A | CA381175409 | PYGM | c.1421A>T (p.Glu474Val) c.1157A>T (p.Glu386Val) | |
| 11 | g.64753170T>C | CA381175407 | PYGM | c.1421A>G (p.Glu474Gly) c.1157A>G (p.Glu386Gly) | |
| 11 | g.64753170T>G | CA381175406 | PYGM | c.1421A>C (p.Glu474Ala) c.1157A>C (p.Glu386Ala) | |
| 11 | g.64753171C>A | CA381175411 | PYGM | c.1420G>T (p.Glu474Ter) c.1156G>T (p.Glu386Ter) | |
| 11 | g.64753171C>G | CA381175414 | PYGM | c.1420G>C (p.Glu474Gln) c.1156G>C (p.Glu386Gln) | |
| 11 | g.64753171C>T | CA381175413 | PYGM | c.1420G>A (p.Glu474Lys) c.1156G>A (p.Glu386Lys) | gnomAD v4 |
| 11 | g.64753172A= | CA1978920406 | PYGM | c.1419T= (p.Tyr473=) c.1155T= (p.Tyr385=) | |
| 11 | g.64753172A>C | CA381175417 | PYGM | c.1419T>G (p.Tyr473Ter) c.1155T>G (p.Tyr385Ter) | |
| 11 | g.64753172A>G | CA223899931 | PYGM | c.1419T>C (p.Tyr473=) c.1155T>C (p.Tyr385=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753172A>T | CA381175420 | PYGM | c.1419T>A (p.Tyr473Ter) c.1155T>A (p.Tyr385Ter) | |
| 11 | g.64753173T>A | CA381175422 | PYGM | c.1418A>T (p.Tyr473Phe) c.1154A>T (p.Tyr385Phe) | |
| 11 | g.64753173T>C | CA381175423 | PYGM | c.1418A>G (p.Tyr473Cys) c.1154A>G (p.Tyr385Cys) | |
| 11 | g.64753173T>G | CA381175426 | PYGM | c.1418A>C (p.Tyr473Ser) c.1154A>C (p.Tyr385Ser) | |
| 11 | g.64753174del | CA2574865116 | PYGM | c.1417del (p.Tyr473MetfsTer?) c.1153del (p.Tyr385MetfsTer?) | |
| 11 | g.64753174A= | CA1978920408 | PYGM | c.1417T= (p.Tyr473=) c.1153T= (p.Tyr385=) | |
| 11 | g.64753174A>C | CA381175432 | PYGM | c.1417T>G (p.Tyr473Asp) c.1153T>G (p.Tyr385Asp) | |
| 11 | g.64753174A>G | CA381175428 | PYGM | c.1417T>C (p.Tyr473His) c.1153T>C (p.Tyr385His) | dbSNP |
| 11 | g.64753174A>T | CA381175430 | PYGM | c.1417T>A (p.Tyr473Asn) c.1153T>A (p.Tyr385Asn) | |
| 11 | g.64753175G>A | CA474959186 | PYGM | c.1416C>T (p.Phe472=) c.1152C>T (p.Phe384=) | |
| 11 | g.64753175G>C | CA6079859 | PYGM | c.1416C>G (p.Phe472Leu) c.1152C>G (p.Phe384Leu) | dbSNP ExAC COSMIC |
| 11 | g.64753175G= | CA1978920411 | PYGM | c.1416C= (p.Phe472=) c.1152C= (p.Phe384=) | |
| 11 | g.64753175G>T | CA381175435 | PYGM | c.1416C>A (p.Phe472Leu) c.1152C>A (p.Phe384Leu) | |
| 11 | g.64753176A>C | CA381175438 | PYGM | c.1415T>G (p.Phe472Cys) c.1151T>G (p.Phe384Cys) | |
| 11 | g.64753176A>G | CA381175440 | PYGM | c.1415T>C (p.Phe472Ser) c.1151T>C (p.Phe384Ser) | |
| 11 | g.64753176A>T | CA381175442 | PYGM | c.1415T>A (p.Phe472Tyr) c.1151T>A (p.Phe384Tyr) | |
| 11 | g.64753177A>C | CA381175445 | PYGM | c.1414T>G (p.Phe472Val) c.1150T>G (p.Phe384Val) | |
| 11 | g.64753177A>G | CA381175451 | PYGM | c.1414T>C (p.Phe472Leu) c.1150T>C (p.Phe384Leu) | |
| 11 | g.64753177A>T | CA381175448 | PYGM | c.1414T>A (p.Phe472Ile) c.1150T>A (p.Phe384Ile) | |
| 11 | g.64753178G>A | CA474959187 | PYGM | c.1413C>T (p.Asp471=) c.1149C>T (p.Asp383=) | gnomAD v4 |
| 11 | g.64753178G>C | CA381175455 | PYGM | c.1413C>G (p.Asp471Glu) c.1149C>G (p.Asp383Glu) | |
| 11 | g.64753178G>T | CA381175457 | PYGM | c.1413C>A (p.Asp471Glu) c.1149C>A (p.Asp383Glu) | |
| 11 | g.64753179T>A | CA381175460 | PYGM | c.1412A>T (p.Asp471Val) c.1148A>T (p.Asp383Val) | |
| 11 | g.64753179T>C | CA381175463 | PYGM | c.1412A>G (p.Asp471Gly) c.1148A>G (p.Asp383Gly) | |
| 11 | g.64753179T>G | CA381175466 | PYGM | c.1412A>C (p.Asp471Ala) c.1148A>C (p.Asp383Ala) | |
| 11 | g.64753180C>A | CA381175467 | PYGM | c.1411G>T (p.Asp471Tyr) c.1147G>T (p.Asp383Tyr) | |
| 11 | g.64753180C>G | CA381175470 | PYGM | c.1411G>C (p.Asp471His) c.1147G>C (p.Asp383His) | |
| 11 | g.64753180C>T | CA381175472 | PYGM | c.1411G>A (p.Asp471Asn) c.1147G>A (p.Asp383Asn) | gnomAD v4 |
| 11 | g.64753181T>A | CA381175476 | PYGM | c.1410A>T (p.Lys470Asn) c.1146A>T (p.Lys382Asn) | |
| 11 | g.64753181T>C | CA474959188 | PYGM | c.1410A>G (p.Lys470=) c.1146A>G (p.Lys382=) | gnomAD v4 |
| 11 | g.64753181T>G | CA381175478 | PYGM | c.1410A>C (p.Lys470Asn) c.1146A>C (p.Lys382Asn) | |
| 11 | g.64753182T>A | CA381175486 | PYGM | c.1409A>T (p.Lys470Ile) c.1145A>T (p.Lys382Ile) | |
| 11 | g.64753182T>C | CA6079860 | PYGM | c.1409A>G (p.Lys470Arg) c.1145A>G (p.Lys382Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753182T>G | CA381175483 | PYGM | c.1409A>C (p.Lys470Thr) c.1145A>C (p.Lys382Thr) | |
| 11 | g.64753182T= | CA1978920417 | PYGM | c.1409A= (p.Lys470=) c.1145A= (p.Lys382=) | |
| 11 | g.64753183T>A | CA381175489 | PYGM | c.1408A>T (p.Lys470Ter) c.1144A>T (p.Lys382Ter) | |
| 11 | g.64753183T>C | CA381175491 | PYGM | c.1408A>G (p.Lys470Glu) c.1144A>G (p.Lys382Glu) | |
| 11 | g.64753183T>G | CA381175494 | PYGM | c.1408A>C (p.Lys470Gln) c.1144A>C (p.Lys382Gln) | |
| 11 | g.64753184G>A | CA474959189 | PYGM | c.1407C>T (p.Phe469=) c.1143C>T (p.Phe381=) | |
| 11 | g.64753184G>C | CA381175497 | PYGM | c.1407C>G (p.Phe469Leu) c.1143C>G (p.Phe381Leu) | gnomAD v4 |
| 11 | g.64753184G>T | CA381175501 | PYGM | c.1407C>A (p.Phe469Leu) c.1143C>A (p.Phe381Leu) | |
| 11 | g.64753185A= | CA1978920424 | PYGM | c.1406T= (p.Phe469=) c.1142T= (p.Phe381=) | |
| 11 | g.64753185A>C | CA381175506 | PYGM | c.1406T>G (p.Phe469Cys) c.1142T>G (p.Phe381Cys) | |
| 11 | g.64753185A>G | CA381175508 | PYGM | c.1406T>C (p.Phe469Ser) c.1142T>C (p.Phe381Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753185A>T | CA381175511 | PYGM | c.1406T>A (p.Phe469Tyr) c.1142T>A (p.Phe381Tyr) | |
| 11 | g.64753186A= | CA1978920429 | PYGM | c.1405T= (p.Phe469=) c.1141T= (p.Phe381=) | |
| 11 | g.64753186A>C | CA381175517 | PYGM | c.1405T>G (p.Phe469Val) c.1141T>G (p.Phe381Val) | |
| 11 | g.64753186A>G | CA381175519 | PYGM | c.1405T>C (p.Phe469Leu) c.1141T>C (p.Phe381Leu) | dbSNP |
| 11 | g.64753186A>T | CA381175522 | PYGM | c.1405T>A (p.Phe469Ile) c.1141T>A (p.Phe381Ile) | |
| 11 | g.64753187G>A | CA474959190 | PYGM | c.1404C>T (p.Ile468=) c.1140C>T (p.Ile380=) | gnomAD v4 COSMIC |
| 11 | g.64753187G>C | CA381175526 | PYGM | c.1404C>G (p.Ile468Met) c.1140C>G (p.Ile380Met) | |
| 11 | g.64753187G>T | CA474959191 | PYGM | c.1404C>A (p.Ile468=) c.1140C>A (p.Ile380=) | gnomAD v4 |
| 11 | g.64753188C>A | CA381175529 | PYGM | c.1404-1G>T (n.1404-1G>T) c.1140-1G>T (n.1140-1G>T) | |
| 11 | g.64753188C>G | CA381175531 | PYGM | c.1404-1G>C (n.1404-1G>C) c.1140-1G>C (n.1140-1G>C) | |
| 11 | g.64753188C>T | CA381175528 | PYGM | c.1404-1G>A (n.1404-1G>A) c.1140-1G>A (n.1140-1G>A) | |
| 11 | g.64753189T>A | CA381175532 | PYGM | c.1404-2A>T (n.1404-2A>T) c.1140-2A>T (n.1140-2A>T) | |
| 11 | g.64753189T>C | CA381175534 | PYGM | c.1404-2A>G (n.1404-2A>G) c.1140-2A>G (n.1140-2A>G) | gnomAD v4 |
| 11 | g.64753189T>G | CA381175536 | PYGM | c.1404-2A>C (n.1404-2A>C) c.1140-2A>C (n.1140-2A>C) | |
| 11 | g.64753190G>T | CA2614196573 | PYGM | c.1404-3C>A (n.1404-3C>A) c.1140-3C>A (n.1140-3C>A) | gnomAD v4 |
| 11 | g.64753191C>A | CA599653405 | PYGM | c.1404-4G>T (n.1404-4G>T) c.1140-4G>T (n.1140-4G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64753191C= | CA1978920434 | PYGM | c.1404-4G= (n.1404-4G=) c.1140-4G= (n.1140-4G=) | |
| 11 | g.64753193G>A | CA2614196587 | PYGM | c.1404-6C>T (n.1404-6C>T) c.1140-6C>T (n.1140-6C>T) | gnomAD v4 |
| 11 | g.64753194G>C | CA6079861 | PYGM | c.1404-7C>G (n.1404-7C>G) c.1140-7C>G (n.1140-7C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753194G= | CA1978920439 | PYGM | c.1404-7C= (n.1404-7C=) c.1140-7C= (n.1140-7C=) | |
| 11 | g.64753195A= | CA1978920446 | PYGM | c.1404-8T= (n.1404-8T=) c.1140-8T= (n.1140-8T=) | |
| 11 | g.64753195A>C | CA1978920455 | PYGM | c.1404-8T>G (n.1404-8T>G) c.1140-8T>G (n.1140-8T>G) | dbSNP |
| 11 | g.64753196T>G | CA2573147420 | PYGM | c.1404-9A>C (n.1404-9A>C) c.1140-9A>C (n.1140-9A>C) | ClinVar dbSNP |
| 11 | g.64753197G>A | CA6079862 | PYGM | c.1404-10C>T (n.1404-10C>T) c.1140-10C>T (n.1140-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753197G= | CA1978920460 | PYGM | c.1404-10C= (n.1404-10C=) c.1140-10C= (n.1140-10C=) | |
| 11 | g.64753198A= | CA1978920466 | PYGM | c.1404-11T= (n.1404-11T=) c.1140-11T= (n.1140-11T=) | |
| 11 | g.64753198A>T | CA1978920464 | PYGM | c.1404-11T>A (n.1404-11T>A) c.1140-11T>A (n.1140-11T>A) | dbSNP |
| 11 | g.64753199G>A | CA2614196593 | PYGM | c.1404-12C>T (n.1404-12C>T) c.1140-12C>T (n.1140-12C>T) | dbSNP gnomAD v4 |
| 11 | g.64753200G>A | CA6079863 | PYGM | c.1404-13C>T (n.1404-13C>T) c.1140-13C>T (n.1140-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753200G= | CA1978920469 | PYGM | c.1404-13C= (n.1404-13C=) c.1140-13C= (n.1140-13C=) | |
| 11 | g.64753200G>T | CA2508121767 | PYGM | c.1404-13C>A (n.1404-13C>A) c.1140-13C>A (n.1140-13C>A) | |
| 11 | g.64753201T>C | CA679272721 | PYGM | c.1404-14A>G (n.1404-14A>G) c.1140-14A>G (n.1140-14A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753201T>G | CA2741180925 | PYGM | c.1404-14A>C (n.1404-14A>C) c.1140-14A>C (n.1140-14A>C) | |
| 11 | g.64753201T= | CA1978920476 | PYGM | c.1404-14A= (n.1404-14A=) c.1140-14A= (n.1140-14A=) | |
| 11 | g.64753203G>A | CA679272724 | PYGM | c.1404-16C>T (n.1404-16C>T) c.1140-16C>T (n.1140-16C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753203G= | CA1978920480 | PYGM | c.1404-16C= (n.1404-16C=) c.1140-16C= (n.1140-16C=) | |
| 11 | g.64753206C= | CA1978920484 | PYGM | c.1404-19G= (n.1404-19G=) c.1140-19G= (n.1140-19G=) | |
| 11 | g.64753206C>T | CA6079864 | PYGM | c.1404-19G>A (n.1404-19G>A) c.1140-19G>A (n.1140-19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753207G>A | CA6079865 | PYGM | c.1404-20C>T (n.1404-20C>T) c.1140-20C>T (n.1140-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753207G= | CA1978920489 | PYGM | c.1404-20C= (n.1404-20C=) c.1140-20C= (n.1140-20C=) | |
| 11 | g.64753210G>A | CA2574865119 | PYGM | c.1404-23C>T (n.1404-23C>T) c.1140-23C>T (n.1140-23C>T) | gnomAD v4 |
| 11 | g.64753210G>T | CA2574865120 | PYGM | c.1404-23C>A (n.1404-23C>A) c.1140-23C>A (n.1140-23C>A) | gnomAD v4 |
| 11 | g.64753215C>A | CA2792428717 | PYGM | c.1404-28G>T (n.1404-28G>T) c.1140-28G>T (n.1140-28G>T) | |
| 11 | g.64753215C= | CA1978920493 | PYGM | c.1404-28G= (n.1404-28G=) c.1140-28G= (n.1140-28G=) | |
| 11 | g.64753215C>G | CA2614196617 | PYGM | c.1404-28G>C (n.1404-28G>C) c.1140-28G>C (n.1140-28G>C) | gnomAD v4 |
| 11 | g.64753215C>T | CA6079866 | PYGM | c.1404-28G>A (n.1404-28G>A) c.1140-28G>A (n.1140-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753216_64753217insCCACCCCCCAAACACACCCA | CA2792428718 | PYGM | c.1404-30_1404-29insTGGGTGTGTTTGGGGGGTGG (n.1404-30_1404-29insTGGGTGTGTTTGGGGGGTGG) c.1140-30_1140-29insTGGGTGTGTTTGGGGGGTGG (n.1140-30_1140-29insTGGGTGTGTTTGGGGGGTGG) | |
| 11 | g.64753218C= | CA1978920499 | PYGM | c.1404-31G= (n.1404-31G=) c.1140-31G= (n.1140-31G=) | |
| 11 | g.64753218C>G | CA599653406 | PYGM | c.1404-31G>C (n.1404-31G>C) c.1140-31G>C (n.1140-31G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753218C>T | CA6079867 | PYGM | c.1404-31G>A (n.1404-31G>A) c.1140-31G>A (n.1140-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753219T>A | CA2792428719 | PYGM | c.1404-32A>T (n.1404-32A>T) c.1140-32A>T (n.1140-32A>T) | |
| 11 | g.64753220C>A | CA2614196623 | PYGM | c.1404-33G>T (n.1404-33G>T) c.1140-33G>T (n.1140-33G>T) | gnomAD v4 |
| 11 | g.64753221A= | CA1978920501 | PYGM | c.1404-34T= (n.1404-34T=) c.1140-34T= (n.1140-34T=) | |
| 11 | g.64753221A>G | CA1978920502 | PYGM | c.1404-34T>C (n.1404-34T>C) c.1140-34T>C (n.1140-34T>C) | dbSNP |
| 11 | g.64753221_64753222delinsAC | CA1978920500 | PYGM | c.1404-35_1404-34delinsGT (n.1404-35_1404-34delinsGT) c.1140-35_1140-34delinsGT (n.1140-35_1140-34delinsGT) | |
| 11 | g.64753222C>A | CA6079869 | PYGM | c.1404-35G>T (n.1404-35G>T) c.1140-35G>T (n.1140-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753222C= | CA1978920506 | PYGM | c.1404-35G= (n.1404-35G=) c.1140-35G= (n.1140-35G=) | |
| 11 | g.64753222C>G | CA938865024 | PYGM | c.1404-35G>C (n.1404-35G>C) c.1140-35G>C (n.1140-35G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753222C>T | CA679272733 | PYGM | c.1404-35G>A (n.1404-35G>A) c.1140-35G>A (n.1140-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753225del | CA6079868 | PYGM | c.1404-35del (n.1404-35del) c.1140-35del (n.1140-35del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753223C= | CA1978920510 | PYGM | c.1404-36G= (n.1404-36G=) c.1140-36G= (n.1140-36G=) | |
| 11 | g.64753223C>G | CA6079870 | PYGM | c.1404-36G>C (n.1404-36G>C) c.1140-36G>C (n.1140-36G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753223C>T | CA599653407 | PYGM | c.1404-36G>A (n.1404-36G>A) c.1140-36G>A (n.1140-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64753224C>T | CA2724511912 | PYGM | c.1404-37G>A (n.1404-37G>A) c.1140-37G>A (n.1140-37G>A) | dbSNP |
| 11 | g.64753225C= | CA1978920516 | PYGM | c.1404-38G= (n.1404-38G=) c.1140-38G= (n.1140-38G=) | |
| 11 | g.64753225C>T | CA938865026 | PYGM | c.1404-38G>A (n.1404-38G>A) c.1140-38G>A (n.1140-38G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753226T>C | CA1978920524 | PYGM | c.1404-39A>G (n.1404-39A>G) c.1140-39A>G (n.1140-39A>G) | dbSNP |
| 11 | g.64753226T= | CA1978920520 | PYGM | c.1404-39A= (n.1404-39A=) c.1140-39A= (n.1140-39A=) | |
| 11 | g.64753227G>A | CA2574865128 | PYGM | c.1404-40C>T (n.1404-40C>T) c.1140-40C>T (n.1140-40C>T) | |
| 11 | g.64753227G>T | CA2614196633 | PYGM | c.1404-40C>A (n.1404-40C>A) c.1140-40C>A (n.1140-40C>A) | gnomAD v4 |
| 11 | g.64753228T>C | CA2614196634 | PYGM | c.1404-41A>G (n.1404-41A>G) c.1140-41A>G (n.1140-41A>G) | gnomAD v4 |
| 11 | g.64753230C>A | CA6079871 | PYGM | c.1404-43G>T (n.1404-43G>T) c.1140-43G>T (n.1140-43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753230C= | CA1978920532 | PYGM | c.1404-43G= (n.1404-43G=) c.1140-43G= (n.1140-43G=) | |
| 11 | g.64753230C>T | CA2614196638 | PYGM | c.1404-43G>A (n.1404-43G>A) c.1140-43G>A (n.1140-43G>A) | gnomAD v4 |
| 11 | g.64753231A>T | CA2614196640 | PYGM | c.1404-44T>A (n.1404-44T>A) c.1140-44T>A (n.1140-44T>A) | gnomAD v4 |
| 11 | g.64753232A= | CA1978920538 | PYGM | c.1404-45T= (n.1404-45T=) c.1140-45T= (n.1140-45T=) | |
| 11 | g.64753232A>C | CA2614196644 | PYGM | c.1404-45T>G (n.1404-45T>G) c.1140-45T>G (n.1140-45T>G) | gnomAD v4 |
| 11 | g.64753232A>G | CA6079872 | PYGM | c.1404-45T>C (n.1404-45T>C) c.1140-45T>C (n.1140-45T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753233T>C | CA1978920543 | PYGM | c.1404-46A>G (n.1404-46A>G) c.1140-46A>G (n.1140-46A>G) | dbSNP |
| 11 | g.64753233T= | CA1978920542 | PYGM | c.1404-46A= (n.1404-46A=) c.1140-46A= (n.1140-46A=) | |
| 11 | g.64753233_64753236delinsTGAA | CA1978920541 | PYGM | c.1404-49_1404-46delinsTTCA (n.1404-49_1404-46delinsTTCA) c.1140-49_1140-46delinsTTCA (n.1140-49_1140-46delinsTTCA) | |
| 11 | g.64753234G>T | CA2614196651 | PYGM | c.1404-47C>A (n.1404-47C>A) c.1140-47C>A (n.1140-47C>A) | gnomAD v4 |
| 11 | g.64753235_64753237del | CA6079873 | PYGM | c.1404-49_1404-47del (n.1404-49_1404-47del) c.1140-49_1140-47del (n.1140-49_1140-47del) | dbSNP ExAC gnomAD v2 gnomAD v4 |