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 |
|---|---|---|---|---|---|
| 14 | g.50914756G>A | CA389687129 | PYGL | c.1463C>T (p.Thr488Ile) c.1361C>T (p.Thr454Ile) | gnomAD v4 |
| 14 | g.50914756G>C | CA260826186 | PYGL | c.1463C>G (p.Thr488Ser) c.1361C>G (p.Thr454Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914756G= | CA2136418881 | PYGL | c.1463C= (p.Thr488=) c.1361C= (p.Thr454=) | |
| 14 | g.50914756G>T | CA389687131 | PYGL | c.1463C>A (p.Thr488Asn) c.1361C>A (p.Thr454Asn) | |
| 14 | g.50914757T>A | CA389687133 | PYGL | c.1462A>T (p.Thr488Ser) c.1360A>T (p.Thr454Ser) | gnomAD v4 |
| 14 | g.50914757T>C | CA389687135 | PYGL | c.1462A>G (p.Thr488Ala) c.1360A>G (p.Thr454Ala) | |
| 14 | g.50914757T>G | CA389687136 | PYGL | c.1462A>C (p.Thr488Pro) c.1360A>C (p.Thr454Pro) | |
| 14 | g.50914758G>A | CA486381924 | PYGL | c.1461C>T (p.Ile487=) c.1359C>T (p.Ile453=) | gnomAD v4 |
| 14 | g.50914758G>C | CA389687137 | PYGL | c.1461C>G (p.Ile487Met) c.1359C>G (p.Ile453Met) | |
| 14 | g.50914758G>T | CA486381927 | PYGL | c.1461C>A (p.Ile487=) c.1359C>A (p.Ile453=) | |
| 14 | g.50914759A>C | CA389687139 | PYGL | c.1460T>G (p.Ile487Ser) c.1358T>G (p.Ile453Ser) | |
| 14 | g.50914759A>G | CA389687141 | PYGL | c.1460T>C (p.Ile487Thr) c.1358T>C (p.Ile453Thr) | |
| 14 | g.50914759A>T | CA389687142 | PYGL | c.1460T>A (p.Ile487Asn) c.1358T>A (p.Ile453Asn) | |
| 14 | g.50914760T>A | CA389687147 | PYGL | c.1459A>T (p.Ile487Phe) c.1357A>T (p.Ile453Phe) | dbSNP gnomAD v4 |
| 14 | g.50914760T>C | CA389687146 | PYGL | c.1459A>G (p.Ile487Val) c.1357A>G (p.Ile453Val) | |
| 14 | g.50914760T>G | CA389687144 | PYGL | c.1459A>C (p.Ile487Leu) c.1357A>C (p.Ile453Leu) | |
| 14 | g.50914760T= | CA2136418882 | PYGL | c.1459A= (p.Ile487=) c.1357A= (p.Ile453=) | |
| 14 | g.50914761C>A | CA7183457 | PYGL | c.1458G>T (p.Gly486=) c.1356G>T (p.Gly452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914761C= | CA2136418883 | PYGL | c.1458G= (p.Gly486=) c.1356G= (p.Gly452=) | |
| 14 | g.50914761C>G | CA486381930 | PYGL | c.1458G>C (p.Gly486=) c.1356G>C (p.Gly452=) | |
| 14 | g.50914761C>T | CA486381929 | PYGL | c.1458G>A (p.Gly486=) c.1356G>A (p.Gly452=) | dbSNP |
| 14 | g.50914762C>A | CA389687152 | PYGL | c.1457G>T (p.Gly486Val) c.1355G>T (p.Gly452Val) | |
| 14 | g.50914762C>G | CA389687148 | PYGL | c.1457G>C (p.Gly486Ala) c.1355G>C (p.Gly452Ala) | |
| 14 | g.50914762C>T | CA389687150 | PYGL | c.1457G>A (p.Gly486Glu) c.1355G>A (p.Gly452Glu) | |
| 14 | g.50914763C>A | CA389687153 | PYGL | c.1456G>T (p.Gly486Trp) c.1354G>T (p.Gly452Trp) | |
| 14 | g.50914763C>G | CA389687154 | PYGL | c.1456G>C (p.Gly486Arg) c.1354G>C (p.Gly452Arg) | |
| 14 | g.50914763C>T | CA389687156 | PYGL | c.1456G>A (p.Gly486Arg) c.1354G>A (p.Gly452Arg) | |
| 14 | g.50914764A>C | CA389687157 | PYGL | c.1455T>G (p.Asn485Lys) c.1353T>G (p.Asn451Lys) | |
| 14 | g.50914764A>G | CA486381934 | PYGL | c.1455T>C (p.Asn485=) c.1353T>C (p.Asn451=) | |
| 14 | g.50914764A>T | CA389687158 | PYGL | c.1455T>A (p.Asn485Lys) c.1353T>A (p.Asn451Lys) | |
| 14 | g.50914765T>A | CA389687160 | PYGL | c.1454A>T (p.Asn485Ile) c.1352A>T (p.Asn451Ile) | |
| 14 | g.50914765T>C | CA7183458 | PYGL | c.1454A>G (p.Asn485Ser) c.1352A>G (p.Asn451Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914765T>G | CA389687162 | PYGL | c.1454A>C (p.Asn485Thr) c.1352A>C (p.Asn451Thr) | |
| 14 | g.50914765T= | CA2136418884 | PYGL | c.1454A= (p.Asn485=) c.1352A= (p.Asn451=) | |
| 14 | g.50914766T>A | CA389687164 | PYGL | c.1453A>T (p.Asn485Tyr) c.1351A>T (p.Asn451Tyr) | |
| 14 | g.50914766T>C | CA389687165 | PYGL | c.1453A>G (p.Asn485Asp) c.1351A>G (p.Asn451Asp) | gnomAD v4 |
| 14 | g.50914766T>G | CA389687167 | PYGL | c.1453A>C (p.Asn485His) c.1351A>C (p.Asn451His) | |
| 14 | g.50914767G>A | CA7183459 | PYGL | c.1452C>T (p.Thr484=) c.1350C>T (p.Thr450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914767G>C | CA486381935 | PYGL | c.1452C>G (p.Thr484=) c.1350C>G (p.Thr450=) | |
| 14 | g.50914767G= | CA2136418885 | PYGL | c.1452C= (p.Thr484=) c.1350C= (p.Thr450=) | |
| 14 | g.50914767G>T | CA486381936 | PYGL | c.1452C>A (p.Thr484=) c.1350C>A (p.Thr450=) | gnomAD v4 |
| 14 | g.50914768G>A | CA389687170 | PYGL | c.1451C>T (p.Thr484Ile) c.1349C>T (p.Thr450Ile) | gnomAD v4 |
| 14 | g.50914768G>C | CA389687173 | PYGL | c.1451C>G (p.Thr484Ser) c.1349C>G (p.Thr450Ser) | |
| 14 | g.50914768G= | CA2136418886 | PYGL | c.1451C= (p.Thr484=) c.1349C= (p.Thr450=) | |
| 14 | g.50914768G>T | CA389687171 | PYGL | c.1451C>A (p.Thr484Asn) c.1349C>A (p.Thr450Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914769T>A | CA389687175 | PYGL | c.1450A>T (p.Thr484Ser) c.1348A>T (p.Thr450Ser) | |
| 14 | g.50914769T>C | CA389687176 | PYGL | c.1450A>G (p.Thr484Ala) c.1348A>G (p.Thr450Ala) | |
| 14 | g.50914769T>G | CA389687178 | PYGL | c.1450A>C (p.Thr484Pro) c.1348A>C (p.Thr450Pro) | |
| 14 | g.50914770T>A | CA389687180 | PYGL | c.1449A>T (p.Lys483Asn) c.1347A>T (p.Lys449Asn) | |
| 14 | g.50914770T>C | CA486381939 | PYGL | c.1449A>G (p.Lys483=) c.1347A>G (p.Lys449=) | |
| 14 | g.50914770T>G | CA389687182 | PYGL | c.1449A>C (p.Lys483Asn) c.1347A>C (p.Lys449Asn) | |
| 14 | g.50914771T>A | CA389687183 | PYGL | c.1448A>T (p.Lys483Ile) c.1346A>T (p.Lys449Ile) | |
| 14 | g.50914771T>C | CA389687185 | PYGL | c.1448A>G (p.Lys483Arg) c.1346A>G (p.Lys449Arg) | |
| 14 | g.50914771T>G | CA389687186 | PYGL | c.1448A>C (p.Lys483Thr) c.1346A>C (p.Lys449Thr) | |
| 14 | g.50914772T>A | CA389687187 | PYGL | c.1447A>T (p.Lys483Ter) c.1345A>T (p.Lys449Ter) | |
| 14 | g.50914772T>C | CA389687189 | PYGL | c.1447A>G (p.Lys483Glu) c.1345A>G (p.Lys449Glu) | |
| 14 | g.50914772T>G | CA389687190 | PYGL | c.1447A>C (p.Lys483Gln) c.1345A>C (p.Lys449Gln) | |
| 14 | g.50914773A= | CA2136418887 | PYGL | c.1446T= (p.Asn482=) c.1344T= (p.Asn448=) | |
| 14 | g.50914773A>C | CA389687191 | PYGL | c.1446T>G (p.Asn482Lys) c.1344T>G (p.Asn448Lys) | |
| 14 | g.50914773A>G | CA486381943 | PYGL | c.1446T>C (p.Asn482=) c.1344T>C (p.Asn448=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914773A>T | CA389687192 | PYGL | c.1446T>A (p.Asn482Lys) c.1344T>A (p.Asn448Lys) | |
| 14 | g.50914774T>A | CA389687194 | PYGL | c.1445A>T (p.Asn482Ile) c.1343A>T (p.Asn448Ile) | |
| 14 | g.50914774T>C | CA389687196 | PYGL | c.1445A>G (p.Asn482Ser) c.1343A>G (p.Asn448Ser) | gnomAD v4 |
| 14 | g.50914774T>G | CA389687198 | PYGL | c.1445A>C (p.Asn482Thr) c.1343A>C (p.Asn448Thr) | |
| 14 | g.50914775T>A | CA389687199 | PYGL | c.1444A>T (p.Asn482Tyr) c.1342A>T (p.Asn448Tyr) | |
| 14 | g.50914775T>C | CA7183460 | PYGL | c.1444A>G (p.Asn482Asp) c.1342A>G (p.Asn448Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914775T>G | CA389687200 | PYGL | c.1444A>C (p.Asn482His) c.1342A>C (p.Asn448His) | gnomAD v4 |
| 14 | g.50914775T= | CA2136418888 | PYGL | c.1444A= (p.Asn482=) c.1342A= (p.Asn448=) | |
| 14 | g.50914776C>A | CA389687202 | PYGL | c.1443G>T (p.Gln481His) c.1341G>T (p.Gln447His) | |
| 14 | g.50914776C>G | CA389687203 | PYGL | c.1443G>C (p.Gln481His) c.1341G>C (p.Gln447His) | |
| 14 | g.50914776C>T | CA486381948 | PYGL | c.1443G>A (p.Gln481=) c.1341G>A (p.Gln447=) | gnomAD v4 |
| 14 | g.50914777T>A | CA389687205 | PYGL | c.1442A>T (p.Gln481Leu) c.1340A>T (p.Gln447Leu) | |
| 14 | g.50914777T>C | CA389687206 | PYGL | c.1442A>G (p.Gln481Arg) c.1340A>G (p.Gln447Arg) | |
| 14 | g.50914777T>G | CA389687208 | PYGL | c.1442A>C (p.Gln481Pro) c.1340A>C (p.Gln447Pro) | |
| 14 | g.50914778G>A | CA389687209 | PYGL | c.1441C>T (p.Gln481Ter) c.1339C>T (p.Gln447Ter) | |
| 14 | g.50914778G>C | CA389687211 | PYGL | c.1441C>G (p.Gln481Glu) c.1339C>G (p.Gln447Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914778G= | CA2136418889 | PYGL | c.1441C= (p.Gln481=) c.1339C= (p.Gln447=) | |
| 14 | g.50914778G>T | CA389687213 | PYGL | c.1441C>A (p.Gln481Lys) c.1339C>A (p.Gln447Lys) | |
| 14 | g.50914779A>C | CA389687215 | PYGL | c.1440T>G (p.Phe480Leu) c.1338T>G (p.Phe446Leu) | |
| 14 | g.50914779A>G | CA486381951 | PYGL | c.1440T>C (p.Phe480=) c.1338T>C (p.Phe446=) | |
| 14 | g.50914779A>T | CA389687216 | PYGL | c.1440T>A (p.Phe480Leu) c.1338T>A (p.Phe446Leu) | |
| 14 | g.50914780A>C | CA389687218 | PYGL | c.1439T>G (p.Phe480Cys) c.1337T>G (p.Phe446Cys) | |
| 14 | g.50914780A>G | CA389687220 | PYGL | c.1439T>C (p.Phe480Ser) c.1337T>C (p.Phe446Ser) | |
| 14 | g.50914780A>T | CA389687221 | PYGL | c.1439T>A (p.Phe480Tyr) c.1337T>A (p.Phe446Tyr) | |
| 14 | g.50914781A= | CA2136418890 | PYGL | c.1438T= (p.Phe480=) c.1336T= (p.Phe446=) | |
| 14 | g.50914781A>C | CA389687223 | PYGL | c.1438T>G (p.Phe480Val) c.1336T>G (p.Phe446Val) | |
| 14 | g.50914781A>G | CA389687225 | PYGL | c.1438T>C (p.Phe480Leu) c.1336T>C (p.Phe446Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914781A>T | CA389687227 | PYGL | c.1438T>A (p.Phe480Ile) c.1336T>A (p.Phe446Ile) | |
| 14 | g.50914782C>A | CA389687228 | PYGL | c.1437G>T (p.Lys479Asn) c.1335G>T (p.Lys445Asn) | |
| 14 | g.50914782C= | CA2136418891 | PYGL | c.1437G= (p.Lys479=) c.1335G= (p.Lys445=) | |
| 14 | g.50914782C>G | CA389687230 | PYGL | c.1437G>C (p.Lys479Asn) c.1335G>C (p.Lys445Asn) | |
| 14 | g.50914782C>T | CA486381953 | PYGL | c.1437G>A (p.Lys479=) c.1335G>A (p.Lys445=) | COSMIC |
| 14 | g.50914783T>A | CA389687232 | PYGL | c.1436A>T (p.Lys479Met) c.1334A>T (p.Lys445Met) | |
| 14 | g.50914783T>C | CA389687234 | PYGL | c.1436A>G (p.Lys479Arg) c.1334A>G (p.Lys445Arg) | |
| 14 | g.50914783T>G | CA389687235 | PYGL | c.1436A>C (p.Lys479Thr) c.1334A>C (p.Lys445Thr) | |
| 14 | g.50914784dup | CA2136418892 | PYGL | c.1436dup (p.Phe480ValfsTer4) c.1334dup (p.Phe446ValfsTer4) | dbSNP |
| 14 | g.50914784T>A | CA389687239 | PYGL | c.1435A>T (p.Lys479Ter) c.1333A>T (p.Lys445Ter) | |
| 14 | g.50914784T>C | CA7183461 | PYGL | c.1435A>G (p.Lys479Glu) c.1333A>G (p.Lys445Glu) | dbSNP ExAC gnomAD v2 |
| 14 | g.50914784T>G | CA389687237 | PYGL | c.1435A>C (p.Lys479Gln) c.1333A>C (p.Lys445Gln) | |
| 14 | g.50914784T= | CA2136418893 | PYGL | c.1435A= (p.Lys479=) c.1333A= (p.Lys445=) | |
| 14 | g.50914785G>A | CA486381954 | PYGL | c.1434C>T (p.Asp478=) c.1332C>T (p.Asp444=) | |
| 14 | g.50914785G>C | CA389687241 | PYGL | c.1434C>G (p.Asp478Glu) c.1332C>G (p.Asp444Glu) | dbSNP gnomAD v4 |
| 14 | g.50914785G= | CA2136418894 | PYGL | c.1434C= (p.Asp478=) c.1332C= (p.Asp444=) | |
| 14 | g.50914785G>T | CA389687242 | PYGL | c.1434C>A (p.Asp478Glu) c.1332C>A (p.Asp444Glu) | |
| 14 | g.50914786T>A | CA389687243 | PYGL | c.1433A>T (p.Asp478Val) c.1331A>T (p.Asp444Val) | |
| 14 | g.50914786T>C | CA389687245 | PYGL | c.1433A>G (p.Asp478Gly) c.1331A>G (p.Asp444Gly) | |
| 14 | g.50914786T>G | CA389687246 | PYGL | c.1433A>C (p.Asp478Ala) c.1331A>C (p.Asp444Ala) | |
| 14 | g.50914787C>A | CA389687248 | PYGL | c.1432G>T (p.Asp478Tyr) c.1330G>T (p.Asp444Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914787C= | CA2136418895 | PYGL | c.1432G= (p.Asp478=) c.1330G= (p.Asp444=) | |
| 14 | g.50914787C>G | CA389687250 | PYGL | c.1432G>C (p.Asp478His) c.1330G>C (p.Asp444His) | |
| 14 | g.50914787C>T | CA389687251 | PYGL | c.1432G>A (p.Asp478Asn) c.1330G>A (p.Asp444Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914788A>C | CA486381955 | PYGL | c.1431T>G (p.Pro477=) c.1329T>G (p.Pro443=) | |
| 14 | g.50914788A>G | CA486381956 | PYGL | c.1431T>C (p.Pro477=) c.1329T>C (p.Pro443=) | gnomAD v4 |
| 14 | g.50914788A>T | CA486381957 | PYGL | c.1431T>A (p.Pro477=) c.1329T>A (p.Pro443=) | |
| 14 | g.50914789G>A | CA389687256 | PYGL | c.1430C>T (p.Pro477Leu) c.1328C>T (p.Pro443Leu) | |
| 14 | g.50914789G>C | CA389687253 | PYGL | c.1430C>G (p.Pro477Arg) c.1328C>G (p.Pro443Arg) | |
| 14 | g.50914789G>T | CA389687254 | PYGL | c.1430C>A (p.Pro477His) c.1328C>A (p.Pro443His) | |
| 14 | g.50914790G>A | CA389687259 | PYGL | c.1429C>T (p.Pro477Ser) c.1327C>T (p.Pro443Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914790G>C | CA389687260 | PYGL | c.1429C>G (p.Pro477Ala) c.1327C>G (p.Pro443Ala) | |
| 14 | g.50914790G= | CA2136418896 | PYGL | c.1429C= (p.Pro477=) c.1327C= (p.Pro443=) | |
| 14 | g.50914790G>T | CA389687261 | PYGL | c.1429C>A (p.Pro477Thr) c.1327C>A (p.Pro443Thr) | dbSNP |
| 14 | g.50914791T>A | CA389687263 | PYGL | c.1428A>T (p.Glu476Asp) c.1326A>T (p.Glu442Asp) | |
| 14 | g.50914791T>C | CA486381962 | PYGL | c.1428A>G (p.Glu476=) c.1326A>G (p.Glu442=) | |
| 14 | g.50914791T>G | CA389687265 | PYGL | c.1428A>C (p.Glu476Asp) c.1326A>C (p.Glu442Asp) | |
| 14 | g.50914792T>A | CA389687268 | PYGL | c.1427A>T (p.Glu476Val) c.1325A>T (p.Glu442Val) | |
| 14 | g.50914792T>C | CA389687266 | PYGL | c.1427A>G (p.Glu476Gly) c.1325A>G (p.Glu442Gly) | gnomAD v4 |
| 14 | g.50914792T>G | CA389687267 | PYGL | c.1427A>C (p.Glu476Ala) c.1325A>C (p.Glu442Ala) | dbSNP gnomAD v4 |
| 14 | g.50914792T= | CA2136418897 | PYGL | c.1427A= (p.Glu476=) c.1325A= (p.Glu442=) | |
| 14 | g.50914793C>A | CA389687270 | PYGL | c.1426G>T (p.Glu476Ter) c.1324G>T (p.Glu442Ter) | |
| 14 | g.50914793C>G | CA389687271 | PYGL | c.1426G>C (p.Glu476Gln) c.1324G>C (p.Glu442Gln) | |
| 14 | g.50914793C>T | CA389687273 | PYGL | c.1426G>A (p.Glu476Lys) c.1324G>A (p.Glu442Lys) | |
| 14 | g.50914794T>A | CA486381964 | PYGL | c.1425A>T (p.Leu475=) c.1323A>T (p.Leu441=) | |
| 14 | g.50914794T>C | CA486381965 | PYGL | c.1425A>G (p.Leu475=) c.1323A>G (p.Leu441=) | |
| 14 | g.50914794T>G | CA486381966 | PYGL | c.1425A>C (p.Leu475=) c.1323A>C (p.Leu441=) | |
| 14 | g.50914795A>C | CA389687275 | PYGL | c.1424T>G (p.Leu475Arg) c.1322T>G (p.Leu441Arg) | |
| 14 | g.50914795A>G | CA389687276 | PYGL | c.1424T>C (p.Leu475Pro) c.1322T>C (p.Leu441Pro) | |
| 14 | g.50914795A>T | CA389687278 | PYGL | c.1424T>A (p.Leu475Gln) c.1322T>A (p.Leu441Gln) | |
| 14 | g.50914796G>A | CA486381967 | PYGL | c.1423C>T (p.Leu475=) c.1321C>T (p.Leu441=) | |
| 14 | g.50914796G>C | CA389687280 | PYGL | c.1423C>G (p.Leu475Val) c.1321C>G (p.Leu441Val) | |
| 14 | g.50914796G= | CA2136418898 | PYGL | c.1423C= (p.Leu475=) c.1321C= (p.Leu441=) | |
| 14 | g.50914796G>T | CA389687282 | PYGL | c.1423C>A (p.Leu475Ile) c.1321C>A (p.Leu441Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914797C>A | CA389687283 | PYGL | c.1422G>T (p.Glu474Asp) c.1320G>T (p.Glu440Asp) | |
| 14 | g.50914797C>G | CA389687285 | PYGL | c.1422G>C (p.Glu474Asp) c.1320G>C (p.Glu440Asp) | |
| 14 | g.50914797C>T | CA486381971 | PYGL | c.1422G>A (p.Glu474=) c.1320G>A (p.Glu440=) | COSMIC |
| 14 | g.50914798T>A | CA389687287 | PYGL | c.1421A>T (p.Glu474Val) c.1319A>T (p.Glu440Val) | |
| 14 | g.50914798T>C | CA389687288 | PYGL | c.1421A>G (p.Glu474Gly) c.1319A>G (p.Glu440Gly) | |
| 14 | g.50914798T>G | CA389687290 | PYGL | c.1421A>C (p.Glu474Ala) c.1319A>C (p.Glu440Ala) | |
| 14 | g.50914799C>A | CA389687294 | PYGL | c.1420G>T (p.Glu474Ter) c.1318G>T (p.Glu440Ter) | |
| 14 | g.50914799C>G | CA389687292 | PYGL | c.1420G>C (p.Glu474Gln) c.1318G>C (p.Glu440Gln) | |
| 14 | g.50914799C>T | CA389687293 | PYGL | c.1420G>A (p.Glu474Lys) c.1318G>A (p.Glu440Lys) | |
| 14 | g.50914800A>C | CA389687295 | PYGL | c.1419T>G (p.Ser473Arg) c.1317T>G (p.Ser439Arg) | |
| 14 | g.50914800A>G | CA486381976 | PYGL | c.1419T>C (p.Ser473=) c.1317T>C (p.Ser439=) | |
| 14 | g.50914800A>T | CA389687297 | PYGL | c.1419T>A (p.Ser473Arg) c.1317T>A (p.Ser439Arg) | |
| 14 | g.50914801C>A | CA389687299 | PYGL | c.1418G>T (p.Ser473Ile) c.1316G>T (p.Ser439Ile) | |
| 14 | g.50914801C>G | CA389687301 | PYGL | c.1418G>C (p.Ser473Thr) c.1316G>C (p.Ser439Thr) | gnomAD v4 |
| 14 | g.50914801C>T | CA389687302 | PYGL | c.1418G>A (p.Ser473Asn) c.1316G>A (p.Ser439Asn) | gnomAD v4 |
| 14 | g.50914802T>A | CA389687304 | PYGL | c.1417A>T (p.Ser473Cys) c.1315A>T (p.Ser439Cys) | |
| 14 | g.50914802T>C | CA389687306 | PYGL | c.1417A>G (p.Ser473Gly) c.1315A>G (p.Ser439Gly) | |
| 14 | g.50914802T>G | CA389687307 | PYGL | c.1417A>C (p.Ser473Arg) c.1315A>C (p.Ser439Arg) | |
| 14 | g.50914803G>A | CA486381978 | PYGL | c.1416C>T (p.Phe472=) c.1314C>T (p.Phe438=) | |
| 14 | g.50914803G>C | CA389687308 | PYGL | c.1416C>G (p.Phe472Leu) c.1314C>G (p.Phe438Leu) | |
| 14 | g.50914803G>T | CA389687310 | PYGL | c.1416C>A (p.Phe472Leu) c.1314C>A (p.Phe438Leu) | |
| 14 | g.50914804A>C | CA389687311 | PYGL | c.1415T>G (p.Phe472Cys) c.1313T>G (p.Phe438Cys) | |
| 14 | g.50914804A>G | CA389687313 | PYGL | c.1415T>C (p.Phe472Ser) c.1313T>C (p.Phe438Ser) | |
| 14 | g.50914804A>T | CA389687314 | PYGL | c.1415T>A (p.Phe472Tyr) c.1313T>A (p.Phe438Tyr) | |
| 14 | g.50914805A>C | CA389687320 | PYGL | c.1414T>G (p.Phe472Val) c.1312T>G (p.Phe438Val) | |
| 14 | g.50914805A>G | CA389687318 | PYGL | c.1414T>C (p.Phe472Leu) c.1312T>C (p.Phe438Leu) | |
| 14 | g.50914805A>T | CA389687316 | PYGL | c.1414T>A (p.Phe472Ile) c.1312T>A (p.Phe438Ile) | |
| 14 | g.50914806G>A | CA260826203 | PYGL | c.1413C>T (p.Asp471=) c.1311C>T (p.Asp437=) | dbSNP gnomAD v4 |
| 14 | g.50914806G>C | CA389687321 | PYGL | c.1413C>G (p.Asp471Glu) c.1311C>G (p.Asp437Glu) | gnomAD v4 |
| 14 | g.50914806G= | CA2136418899 | PYGL | c.1413C= (p.Asp471=) c.1311C= (p.Asp437=) | |
| 14 | g.50914806G>T | CA389687323 | PYGL | c.1413C>A (p.Asp471Glu) c.1311C>A (p.Asp437Glu) | |
| 14 | g.50914807T>A | CA389687325 | PYGL | c.1412A>T (p.Asp471Val) c.1310A>T (p.Asp437Val) | |
| 14 | g.50914807T>C | CA389687326 | PYGL | c.1412A>G (p.Asp471Gly) c.1310A>G (p.Asp437Gly) | gnomAD v4 |
| 14 | g.50914807T>G | CA389687327 | PYGL | c.1412A>C (p.Asp471Ala) c.1310A>C (p.Asp437Ala) | |
| 14 | g.50914808C>A | CA389687329 | PYGL | c.1411G>T (p.Asp471Tyr) c.1309G>T (p.Asp437Tyr) | |
| 14 | g.50914808C>G | CA389687330 | PYGL | c.1411G>C (p.Asp471His) c.1309G>C (p.Asp437His) | |
| 14 | g.50914808C>T | CA389687331 | PYGL | c.1411G>A (p.Asp471Asn) c.1309G>A (p.Asp437Asn) | |
| 14 | g.50914809C>A | CA389687333 | PYGL | c.1410G>T (p.Lys470Asn) c.1308G>T (p.Lys436Asn) | |
| 14 | g.50914809C= | CA2136418900 | PYGL | c.1410G= (p.Lys470=) c.1308G= (p.Lys436=) | |
| 14 | g.50914809C>G | CA7183462 | PYGL | c.1410G>C (p.Lys470Asn) c.1308G>C (p.Lys436Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914809C>T | CA486381994 | PYGL | c.1410G>A (p.Lys470=) c.1308G>A (p.Lys436=) | gnomAD v4 |
| 14 | g.50914810T>A | CA389687335 | PYGL | c.1409A>T (p.Lys470Met) c.1307A>T (p.Lys436Met) | |
| 14 | g.50914810T>C | CA389687336 | PYGL | c.1409A>G (p.Lys470Arg) c.1307A>G (p.Lys436Arg) | |
| 14 | g.50914810T>G | CA389687338 | PYGL | c.1409A>C (p.Lys470Thr) c.1307A>C (p.Lys436Thr) | |
| 14 | g.50914811del | CA2624831247 | PYGL | c.1409del (p.Lys470ArgfsTer6) c.1307del (p.Lys436ArgfsTer6) | gnomAD v4 |
| 14 | g.50914811T>A | CA389687343 | PYGL | c.1408A>T (p.Lys470Ter) c.1306A>T (p.Lys436Ter) | |
| 14 | g.50914811T>C | CA389687342 | PYGL | c.1408A>G (p.Lys470Glu) c.1306A>G (p.Lys436Glu) | |
| 14 | g.50914811T>G | CA389687341 | PYGL | c.1408A>C (p.Lys470Gln) c.1306A>C (p.Lys436Gln) | |
| 14 | g.50914812G>A | CA486382002 | PYGL | c.1407C>T (p.Phe469=) c.1305C>T (p.Phe435=) | gnomAD v4 |
| 14 | g.50914812G>C | CA389687345 | PYGL | c.1407C>G (p.Phe469Leu) c.1305C>G (p.Phe435Leu) | |
| 14 | g.50914812G>T | CA389687347 | PYGL | c.1407C>A (p.Phe469Leu) c.1305C>A (p.Phe435Leu) | COSMIC |
| 14 | g.50914813A>C | CA389687349 | PYGL | c.1406T>G (p.Phe469Cys) c.1304T>G (p.Phe435Cys) | |
| 14 | g.50914813A>G | CA389687350 | PYGL | c.1406T>C (p.Phe469Ser) c.1304T>C (p.Phe435Ser) | |
| 14 | g.50914813A>T | CA389687352 | PYGL | c.1406T>A (p.Phe469Tyr) c.1304T>A (p.Phe435Tyr) | |
| 14 | g.50914814A= | CA2136418901 | PYGL | c.1405T= (p.Phe469=) c.1303T= (p.Phe435=) | |
| 14 | g.50914814A>C | CA389687354 | PYGL | c.1405T>G (p.Phe469Val) c.1303T>G (p.Phe435Val) | |
| 14 | g.50914814A>G | CA260826204 | PYGL | c.1405T>C (p.Phe469Leu) c.1303T>C (p.Phe435Leu) | dbSNP gnomAD v4 |
| 14 | g.50914814A>T | CA389687355 | PYGL | c.1405T>A (p.Phe469Ile) c.1303T>A (p.Phe435Ile) | |
| 14 | g.50914815T>A | CA486382006 | PYGL | c.1404A>T (p.Val468=) c.1302A>T (p.Val434=) | gnomAD v4 |
| 14 | g.50914815T>C | CA486382007 | PYGL | c.1404A>G (p.Val468=) c.1302A>G (p.Val434=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914815T>G | CA486382008 | PYGL | c.1404A>C (p.Val468=) c.1302A>C (p.Val434=) | |
| 14 | g.50914815T= | CA2136418902 | PYGL | c.1404A= (p.Val468=) c.1302A= (p.Val434=) | |
| 14 | g.50914816C>A | CA389687356 | PYGL | c.1404-1G>T (n.1404-1G>T) c.1302-1G>T (n.1302-1G>T) | |
| 14 | g.50914816C= | CA2136418903 | PYGL | c.1404-1G= (n.1404-1G=) c.1302-1G= (n.1302-1G=) | |
| 14 | g.50914816C>G | CA389687358 | PYGL | c.1404-1G>C (n.1404-1G>C) c.1302-1G>C (n.1302-1G>C) | |
| 14 | g.50914816C>T | CA7183463 | PYGL | c.1404-1G>A (n.1404-1G>A) c.1302-1G>A (n.1302-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914817T>A | CA389687361 | PYGL | c.1404-2A>T (n.1404-2A>T) c.1302-2A>T (n.1302-2A>T) | |
| 14 | g.50914817T>C | CA389687362 | PYGL | c.1404-2A>G (n.1404-2A>G) c.1302-2A>G (n.1302-2A>G) | |
| 14 | g.50914817T>G | CA389687364 | PYGL | c.1404-2A>C (n.1404-2A>C) c.1302-2A>C (n.1302-2A>C) | |
| 14 | g.50914818G>T | CA2624831248 | PYGL | c.1404-3C>A (n.1404-3C>A) c.1302-3C>A (n.1302-3C>A) | gnomAD v4 |
| 14 | g.50914819G>C | CA2624831249 | PYGL | c.1404-4C>G (n.1404-4C>G) c.1302-4C>G (n.1302-4C>G) | gnomAD v4 |
| 14 | g.50914821G>A | CA2624831250 | PYGL | c.1404-6C>T (n.1404-6C>T) c.1302-6C>T (n.1302-6C>T) | gnomAD v4 |
| 14 | g.50914821G>T | CA2624831251 | PYGL | c.1404-6C>A (n.1404-6C>A) c.1302-6C>A (n.1302-6C>A) | gnomAD v4 |
| 14 | g.50914822A= | CA2136418904 | PYGL | c.1404-7T= (n.1404-7T=) c.1302-7T= (n.1302-7T=) | |
| 14 | g.50914822A>G | CA260826209 | PYGL | c.1404-7T>C (n.1404-7T>C) c.1302-7T>C (n.1302-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914823T>C | CA7183464 | PYGL | c.1404-8A>G (n.1404-8A>G) c.1302-8A>G (n.1302-8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914823T= | CA2136418905 | PYGL | c.1404-8A= (n.1404-8A=) c.1302-8A= (n.1302-8A=) | |
| 14 | g.50914824G>A | CA2535860729 | PYGL | c.1404-9C>T (n.1404-9C>T) c.1302-9C>T (n.1302-9C>T) | |
| 14 | g.50914824G>T | CA2624831253 | PYGL | c.1404-9C>A (n.1404-9C>A) c.1302-9C>A (n.1302-9C>A) | gnomAD v4 |
| 14 | g.50914825G>A | CA7183465 | PYGL | c.1404-10C>T (n.1404-10C>T) c.1302-10C>T (n.1302-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914825G>C | CA7183466 | PYGL | c.1404-10C>G (n.1404-10C>G) c.1302-10C>G (n.1302-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914825G= | CA2136418906 | PYGL | c.1404-10C= (n.1404-10C=) c.1302-10C= (n.1302-10C=) | |
| 14 | g.50914827G>A | CA2545022968 | PYGL | c.1404-12C>T (n.1404-12C>T) c.1302-12C>T (n.1302-12C>T) | gnomAD v4 |
| 14 | g.50914828del | CA2624831255 | PYGL | c.1404-12del (n.1404-12del) c.1302-12del (n.1302-12del) | gnomAD v4 |
| 14 | g.50914831A>C | CA2575525178 | PYGL | c.1404-16T>G (n.1404-16T>G) c.1302-16T>G (n.1302-16T>G) | |
| 14 | g.50914832C>A | CA2575525179 | PYGL | c.1404-17G>T (n.1404-17G>T) c.1302-17G>T (n.1302-17G>T) | gnomAD v4 |
| 14 | g.50914832C= | CA2136418907 | PYGL | c.1404-17G= (n.1404-17G=) c.1302-17G= (n.1302-17G=) | |
| 14 | g.50914832C>T | CA613882085 | PYGL | c.1404-17G>A (n.1404-17G>A) c.1302-17G>A (n.1302-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914833A>G | CA2575525180 | PYGL | c.1404-18T>C (n.1404-18T>C) c.1302-18T>C (n.1302-18T>C) | gnomAD v4 |
| 14 | g.50914834C>A | CA706615538 | PYGL | c.1404-19G>T (n.1404-19G>T) c.1302-19G>T (n.1302-19G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914834C= | CA2136418908 | PYGL | c.1404-19G= (n.1404-19G=) c.1302-19G= (n.1302-19G=) | |
| 14 | g.50914834C>T | CA613882086 | PYGL | c.1404-19G>A (n.1404-19G>A) c.1302-19G>A (n.1302-19G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914835A>G | CA2575525181 | PYGL | c.1404-20T>C (n.1404-20T>C) c.1302-20T>C (n.1302-20T>C) | |
| 14 | g.50914836T>A | CA2575525182 | PYGL | c.1404-21A>T (n.1404-21A>T) c.1302-21A>T (n.1302-21A>T) | dbSNP gnomAD v4 |
| 14 | g.50914836T>C | CA613882087 | PYGL | c.1404-21A>G (n.1404-21A>G) c.1302-21A>G (n.1302-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914836T= | CA2136418909 | PYGL | c.1404-21A= (n.1404-21A=) c.1302-21A= (n.1302-21A=) | |
| 14 | g.50914837C= | CA2136418910 | PYGL | c.1404-22G= (n.1404-22G=) c.1302-22G= (n.1302-22G=) | |
| 14 | g.50914837C>G | CA2624831256 | PYGL | c.1404-22G>C (n.1404-22G>C) c.1302-22G>C (n.1302-22G>C) | gnomAD v4 |
| 14 | g.50914837C>T | CA7183467 | PYGL | c.1404-22G>A (n.1404-22G>A) c.1302-22G>A (n.1302-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914838A>G | CA2624831258 | PYGL | c.1404-23T>C (n.1404-23T>C) c.1302-23T>C (n.1302-23T>C) | gnomAD v4 |
| 14 | g.50914839C= | CA2136418911 | PYGL | c.1404-24G= (n.1404-24G=) c.1302-24G= (n.1302-24G=) | |
| 14 | g.50914839C>T | CA7183468 | PYGL | c.1404-24G>A (n.1404-24G>A) c.1302-24G>A (n.1302-24G>A) | dbSNP ExAC gnomAD v2 |
| 14 | g.50914841G>A | CA706615553 | PYGL | c.1404-26C>T (n.1404-26C>T) c.1302-26C>T (n.1302-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914841G= | CA2136418912 | PYGL | c.1404-26C= (n.1404-26C=) c.1302-26C= (n.1302-26C=) | |
| 14 | g.50914841G>T | CA2624831259 | PYGL | c.1404-26C>A (n.1404-26C>A) c.1302-26C>A (n.1302-26C>A) | gnomAD v4 |
| 14 | g.50914845T>C | CA613882088 | PYGL | c.1404-30A>G (n.1404-30A>G) c.1302-30A>G (n.1302-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914845T>G | CA7183469 | PYGL | c.1404-30A>C (n.1404-30A>C) c.1302-30A>C (n.1302-30A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914845T= | CA2136418913 | PYGL | c.1404-30A= (n.1404-30A=) c.1302-30A= (n.1302-30A=) | |
| 14 | g.50914847G>T | CA2624831261 | PYGL | c.1404-32C>A (n.1404-32C>A) c.1302-32C>A (n.1302-32C>A) | gnomAD v4 |
| 14 | g.50914848G>A | CA2624831262 | PYGL | c.1404-33C>T (n.1404-33C>T) c.1302-33C>T (n.1302-33C>T) | gnomAD v4 |
| 14 | g.50914848G>T | CA2624831263 | PYGL | c.1404-33C>A (n.1404-33C>A) c.1302-33C>A (n.1302-33C>A) | gnomAD v4 |
| 14 | g.50914849C>A | CA7183470 | PYGL | c.1404-34G>T (n.1404-34G>T) c.1302-34G>T (n.1302-34G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914849C= | CA2136418914 | PYGL | c.1404-34G= (n.1404-34G=) c.1302-34G= (n.1302-34G=) | |
| 14 | g.50914849C>T | CA2624831264 | PYGL | c.1404-34G>A (n.1404-34G>A) c.1302-34G>A (n.1302-34G>A) | gnomAD v4 |
| 14 | g.50914851G>A | CA2624831265 | PYGL | c.1404-36C>T (n.1404-36C>T) c.1302-36C>T (n.1302-36C>T) | gnomAD v4 |
| 14 | g.50914851G>T | CA2624831266 | PYGL | c.1404-36C>A (n.1404-36C>A) c.1302-36C>A (n.1302-36C>A) | gnomAD v4 |
| 14 | g.50914854A= | CA2136418915 | PYGL | c.1404-39T= (n.1404-39T=) c.1302-39T= (n.1302-39T=) | |
| 14 | g.50914854A>G | CA2136418916 | PYGL | c.1404-39T>C (n.1404-39T>C) c.1302-39T>C (n.1302-39T>C) | dbSNP |
| 14 | g.50914855C= | CA2136418917 | PYGL | c.1404-40G= (n.1404-40G=) c.1302-40G= (n.1302-40G=) | |
| 14 | g.50914855C>T | CA7183471 | PYGL | c.1404-40G>A (n.1404-40G>A) c.1302-40G>A (n.1302-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914856G>A | CA7183472 | PYGL | c.1404-41C>T (n.1404-41C>T) c.1302-41C>T (n.1302-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914856G= | CA2136418918 | PYGL | c.1404-41C= (n.1404-41C=) c.1302-41C= (n.1302-41C=) | |
| 14 | g.50914856G>T | CA2624831267 | PYGL | c.1404-41C>A (n.1404-41C>A) c.1302-41C>A (n.1302-41C>A) | gnomAD v4 |