WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137449656T>A | CA375754203 | NSMF | c.1432A>T (p.Thr478Ser) c.1438A>T (p.Thr480Ser) c.829A>T (p.Thr277Ser) c.1348A>T (p.Thr450Ser) c.1363A>T (p.Thr455Ser) c.430A>T (p.Thr144Ser) c.1369A>T (p.Thr457Ser) n.884A>T c.1342A>T (p.Thr448Ser) c.1273A>T (p.Thr425Ser) c.1279A>T (p.Thr427Ser) c.637A>T (p.Thr213Ser) c.910A>T (p.Thr304Ser) | |
| 9 | g.137449656T>C | CA130174 | NSMF | c.1432A>G (p.Thr478Ala) c.1438A>G (p.Thr480Ala) c.829A>G (p.Thr277Ala) c.1348A>G (p.Thr450Ala) c.1363A>G (p.Thr455Ala) c.430A>G (p.Thr144Ala) c.1369A>G (p.Thr457Ala) n.884A>G c.1342A>G (p.Thr448Ala) c.1273A>G (p.Thr425Ala) c.1279A>G (p.Thr427Ala) c.637A>G (p.Thr213Ala) c.910A>G (p.Thr304Ala) | ClinVar dbSNP |
| 9 | g.137449656T>G | CA375754204 | NSMF | c.1432A>C (p.Thr478Pro) c.1438A>C (p.Thr480Pro) c.829A>C (p.Thr277Pro) c.1348A>C (p.Thr450Pro) c.1363A>C (p.Thr455Pro) c.430A>C (p.Thr144Pro) c.1369A>C (p.Thr457Pro) n.884A>C c.1342A>C (p.Thr448Pro) c.1273A>C (p.Thr425Pro) c.1279A>C (p.Thr427Pro) c.637A>C (p.Thr213Pro) c.910A>C (p.Thr304Pro) | |
| 9 | g.137449656T= | CA1884492714 | NSMF | c.1432A= (p.Thr478=) c.1438A= (p.Thr480=) c.829A= (p.Thr277=) c.1348A= (p.Thr450=) c.1363A= (p.Thr455=) c.430A= (p.Thr144=) c.1369A= (p.Thr457=) n.884A= c.1342A= (p.Thr448=) c.1273A= (p.Thr425=) c.1279A= (p.Thr427=) c.637A= (p.Thr213=) c.910A= (p.Thr304=) | |
| 9 | g.137449657C>A | CA375754205 | NSMF | c.1431G>T (p.Arg477Ser) c.1437G>T (p.Arg479Ser) c.828G>T (p.Arg276Ser) c.1347G>T (p.Arg449Ser) c.1362G>T (p.Arg454Ser) c.429G>T (p.Arg143Ser) c.1368G>T (p.Arg456Ser) n.883G>T c.1341G>T (p.Arg447Ser) c.1272G>T (p.Arg424Ser) c.1278G>T (p.Arg426Ser) c.636G>T (p.Arg212Ser) c.909G>T (p.Arg303Ser) | |
| 9 | g.137449657C>G | CA375754206 | NSMF | c.1431G>C (p.Arg477Ser) c.1437G>C (p.Arg479Ser) c.828G>C (p.Arg276Ser) c.1347G>C (p.Arg449Ser) c.1362G>C (p.Arg454Ser) c.429G>C (p.Arg143Ser) c.1368G>C (p.Arg456Ser) n.883G>C c.1341G>C (p.Arg447Ser) c.1272G>C (p.Arg424Ser) c.1278G>C (p.Arg426Ser) c.636G>C (p.Arg212Ser) c.909G>C (p.Arg303Ser) | |
| 9 | g.137449657C>T | CA467868368 | NSMF | c.1431G>A (p.Arg477=) c.1437G>A (p.Arg479=) c.828G>A (p.Arg276=) c.1347G>A (p.Arg449=) c.1362G>A (p.Arg454=) c.429G>A (p.Arg143=) c.1368G>A (p.Arg456=) n.883G>A c.1341G>A (p.Arg447=) c.1272G>A (p.Arg424=) c.1278G>A (p.Arg426=) c.636G>A (p.Arg212=) c.909G>A (p.Arg303=) | gnomAD v4 |
| 9 | g.137449658C>A | CA375754207 | NSMF | c.1430G>T (p.Arg477Met) c.1436G>T (p.Arg479Met) c.827G>T (p.Arg276Met) c.1346G>T (p.Arg449Met) c.1361G>T (p.Arg454Met) c.428G>T (p.Arg143Met) c.1367G>T (p.Arg456Met) n.882G>T c.1340G>T (p.Arg447Met) c.1271G>T (p.Arg424Met) c.1277G>T (p.Arg426Met) c.635G>T (p.Arg212Met) c.908G>T (p.Arg303Met) | |
| 9 | g.137449658C= | CA1884492715 | NSMF | c.1430G= (p.Arg477=) c.1436G= (p.Arg479=) c.827G= (p.Arg276=) c.1346G= (p.Arg449=) c.1361G= (p.Arg454=) c.428G= (p.Arg143=) c.1367G= (p.Arg456=) n.882G= c.1340G= (p.Arg447=) c.1271G= (p.Arg424=) c.1277G= (p.Arg426=) c.635G= (p.Arg212=) c.908G= (p.Arg303=) | |
| 9 | g.137449658C>G | CA375754208 | NSMF | c.1430G>C (p.Arg477Thr) c.1436G>C (p.Arg479Thr) c.827G>C (p.Arg276Thr) c.1346G>C (p.Arg449Thr) c.1361G>C (p.Arg454Thr) c.428G>C (p.Arg143Thr) c.1367G>C (p.Arg456Thr) n.882G>C c.1340G>C (p.Arg447Thr) c.1271G>C (p.Arg424Thr) c.1277G>C (p.Arg426Thr) c.635G>C (p.Arg212Thr) c.908G>C (p.Arg303Thr) | |
| 9 | g.137449658C>T | CA5369971 | NSMF | c.1430G>A (p.Arg477Lys) c.1436G>A (p.Arg479Lys) c.827G>A (p.Arg276Lys) c.1346G>A (p.Arg449Lys) c.1361G>A (p.Arg454Lys) c.428G>A (p.Arg143Lys) c.1367G>A (p.Arg456Lys) n.882G>A c.1340G>A (p.Arg447Lys) c.1271G>A (p.Arg424Lys) c.1277G>A (p.Arg426Lys) c.635G>A (p.Arg212Lys) c.908G>A (p.Arg303Lys) | dbSNP ExAC |
| 9 | g.137449659T>A | CA375754209 | NSMF | c.1429A>T (p.Arg477Trp) c.1435A>T (p.Arg479Trp) c.826A>T (p.Arg276Trp) c.1345A>T (p.Arg449Trp) c.1360A>T (p.Arg454Trp) c.427A>T (p.Arg143Trp) c.1366A>T (p.Arg456Trp) n.881A>T c.1339A>T (p.Arg447Trp) c.1270A>T (p.Arg424Trp) c.1276A>T (p.Arg426Trp) c.634A>T (p.Arg212Trp) c.907A>T (p.Arg303Trp) | |
| 9 | g.137449659T>C | CA375754210 | NSMF | c.1429A>G (p.Arg477Gly) c.1435A>G (p.Arg479Gly) c.826A>G (p.Arg276Gly) c.1345A>G (p.Arg449Gly) c.1360A>G (p.Arg454Gly) c.427A>G (p.Arg143Gly) c.1366A>G (p.Arg456Gly) n.881A>G c.1339A>G (p.Arg447Gly) c.1270A>G (p.Arg424Gly) c.1276A>G (p.Arg426Gly) c.634A>G (p.Arg212Gly) c.907A>G (p.Arg303Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137449659T>G | CA467868369 | NSMF | c.1429A>C (p.Arg477=) c.1435A>C (p.Arg479=) c.826A>C (p.Arg276=) c.1345A>C (p.Arg449=) c.1360A>C (p.Arg454=) c.427A>C (p.Arg143=) c.1366A>C (p.Arg456=) n.881A>C c.1339A>C (p.Arg447=) c.1270A>C (p.Arg424=) c.1276A>C (p.Arg426=) c.634A>C (p.Arg212=) c.907A>C (p.Arg303=) | |
| 9 | g.137449659T= | CA1884492716 | NSMF | c.1429A= (p.Arg477=) c.1435A= (p.Arg479=) c.826A= (p.Arg276=) c.1345A= (p.Arg449=) c.1360A= (p.Arg454=) c.427A= (p.Arg143=) c.1366A= (p.Arg456=) n.881A= c.1339A= (p.Arg447=) c.1270A= (p.Arg424=) c.1276A= (p.Arg426=) c.634A= (p.Arg212=) c.907A= (p.Arg303=) | |
| 9 | g.137449660G>A | CA467868372 | NSMF | c.1428C>T (p.Leu476=) c.1434C>T (p.Leu478=) c.825C>T (p.Leu275=) c.1344C>T (p.Leu448=) c.1359C>T (p.Leu453=) c.426C>T (p.Leu142=) c.1365C>T (p.Leu455=) n.880C>T c.1338C>T (p.Leu446=) c.1269C>T (p.Leu423=) c.1275C>T (p.Leu425=) c.633C>T (p.Leu211=) c.906C>T (p.Leu302=) | |
| 9 | g.137449660G>C | CA467868371 | NSMF | c.1428C>G (p.Leu476=) c.1434C>G (p.Leu478=) c.825C>G (p.Leu275=) c.1344C>G (p.Leu448=) c.1359C>G (p.Leu453=) c.426C>G (p.Leu142=) c.1365C>G (p.Leu455=) n.880C>G c.1338C>G (p.Leu446=) c.1269C>G (p.Leu423=) c.1275C>G (p.Leu425=) c.633C>G (p.Leu211=) c.906C>G (p.Leu302=) | |
| 9 | g.137449660G>T | CA467868370 | NSMF | c.1428C>A (p.Leu476=) c.1434C>A (p.Leu478=) c.825C>A (p.Leu275=) c.1344C>A (p.Leu448=) c.1359C>A (p.Leu453=) c.426C>A (p.Leu142=) c.1365C>A (p.Leu455=) n.880C>A c.1338C>A (p.Leu446=) c.1269C>A (p.Leu423=) c.1275C>A (p.Leu425=) c.633C>A (p.Leu211=) c.906C>A (p.Leu302=) | |
| 9 | g.137449661A>C | CA375754212 | NSMF | c.1427T>G (p.Leu476Arg) c.1433T>G (p.Leu478Arg) c.824T>G (p.Leu275Arg) c.1343T>G (p.Leu448Arg) c.1358T>G (p.Leu453Arg) c.425T>G (p.Leu142Arg) c.1364T>G (p.Leu455Arg) n.879T>G c.1337T>G (p.Leu446Arg) c.1268T>G (p.Leu423Arg) c.1274T>G (p.Leu425Arg) c.632T>G (p.Leu211Arg) c.905T>G (p.Leu302Arg) | |
| 9 | g.137449661A>G | CA375754213 | NSMF | c.1427T>C (p.Leu476Pro) c.1433T>C (p.Leu478Pro) c.824T>C (p.Leu275Pro) c.1343T>C (p.Leu448Pro) c.1358T>C (p.Leu453Pro) c.425T>C (p.Leu142Pro) c.1364T>C (p.Leu455Pro) n.879T>C c.1337T>C (p.Leu446Pro) c.1268T>C (p.Leu423Pro) c.1274T>C (p.Leu425Pro) c.632T>C (p.Leu211Pro) c.905T>C (p.Leu302Pro) | |
| 9 | g.137449661A>T | CA375754211 | NSMF | c.1427T>A (p.Leu476His) c.1433T>A (p.Leu478His) c.824T>A (p.Leu275His) c.1343T>A (p.Leu448His) c.1358T>A (p.Leu453His) c.425T>A (p.Leu142His) c.1364T>A (p.Leu455His) n.879T>A c.1337T>A (p.Leu446His) c.1268T>A (p.Leu423His) c.1274T>A (p.Leu425His) c.632T>A (p.Leu211His) c.905T>A (p.Leu302His) | |
| 9 | g.137449662G>A | CA375754215 | NSMF | c.1426C>T (p.Leu476Phe) c.1432C>T (p.Leu478Phe) c.823C>T (p.Leu275Phe) c.1342C>T (p.Leu448Phe) c.1357C>T (p.Leu453Phe) c.424C>T (p.Leu142Phe) c.1363C>T (p.Leu455Phe) n.878C>T c.1336C>T (p.Leu446Phe) c.1267C>T (p.Leu423Phe) c.1273C>T (p.Leu425Phe) c.631C>T (p.Leu211Phe) c.904C>T (p.Leu302Phe) | |
| 9 | g.137449662G>C | CA375754214 | NSMF | c.1426C>G (p.Leu476Val) c.1432C>G (p.Leu478Val) c.823C>G (p.Leu275Val) c.1342C>G (p.Leu448Val) c.1357C>G (p.Leu453Val) c.424C>G (p.Leu142Val) c.1363C>G (p.Leu455Val) n.878C>G c.1336C>G (p.Leu446Val) c.1267C>G (p.Leu423Val) c.1273C>G (p.Leu425Val) c.631C>G (p.Leu211Val) c.904C>G (p.Leu302Val) | gnomAD v4 |
| 9 | g.137449662G>T | CA375754216 | NSMF | c.1426C>A (p.Leu476Ile) c.1432C>A (p.Leu478Ile) c.823C>A (p.Leu275Ile) c.1342C>A (p.Leu448Ile) c.1357C>A (p.Leu453Ile) c.424C>A (p.Leu142Ile) c.1363C>A (p.Leu455Ile) n.878C>A c.1336C>A (p.Leu446Ile) c.1267C>A (p.Leu423Ile) c.1273C>A (p.Leu425Ile) c.631C>A (p.Leu211Ile) c.904C>A (p.Leu302Ile) | |
| 9 | g.137449663G>A | CA467868373 | NSMF | c.1425C>T (p.Asn475=) c.1431C>T (p.Asn477=) c.822C>T (p.Asn274=) c.1341C>T (p.Asn447=) c.1356C>T (p.Asn452=) c.423C>T (p.Asn141=) c.1362C>T (p.Asn454=) n.877C>T c.1335C>T (p.Asn445=) c.1266C>T (p.Asn422=) c.1272C>T (p.Asn424=) c.630C>T (p.Asn210=) c.903C>T (p.Asn301=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137449663G>C | CA375754217 | NSMF | c.1425C>G (p.Asn475Lys) c.1431C>G (p.Asn477Lys) c.822C>G (p.Asn274Lys) c.1341C>G (p.Asn447Lys) c.1356C>G (p.Asn452Lys) c.423C>G (p.Asn141Lys) c.1362C>G (p.Asn454Lys) n.877C>G c.1335C>G (p.Asn445Lys) c.1266C>G (p.Asn422Lys) c.1272C>G (p.Asn424Lys) c.630C>G (p.Asn210Lys) c.903C>G (p.Asn301Lys) | |
| 9 | g.137449663G= | CA1884492717 | NSMF | c.1425C= (p.Asn475=) c.1431C= (p.Asn477=) c.822C= (p.Asn274=) c.1341C= (p.Asn447=) c.1356C= (p.Asn452=) c.423C= (p.Asn141=) c.1362C= (p.Asn454=) n.877C= c.1335C= (p.Asn445=) c.1266C= (p.Asn422=) c.1272C= (p.Asn424=) c.630C= (p.Asn210=) c.903C= (p.Asn301=) | |
| 9 | g.137449663G>T | CA375754218 | NSMF | c.1425C>A (p.Asn475Lys) c.1431C>A (p.Asn477Lys) c.822C>A (p.Asn274Lys) c.1341C>A (p.Asn447Lys) c.1356C>A (p.Asn452Lys) c.423C>A (p.Asn141Lys) c.1362C>A (p.Asn454Lys) n.877C>A c.1335C>A (p.Asn445Lys) c.1266C>A (p.Asn422Lys) c.1272C>A (p.Asn424Lys) c.630C>A (p.Asn210Lys) c.903C>A (p.Asn301Lys) | |
| 9 | g.137449664T>A | CA375754219 | NSMF | c.1424A>T (p.Asn475Ile) c.1430A>T (p.Asn477Ile) c.821A>T (p.Asn274Ile) c.1340A>T (p.Asn447Ile) c.1355A>T (p.Asn452Ile) c.422A>T (p.Asn141Ile) c.1361A>T (p.Asn454Ile) n.876A>T c.1334A>T (p.Asn445Ile) c.1265A>T (p.Asn422Ile) c.1271A>T (p.Asn424Ile) c.629A>T (p.Asn210Ile) c.902A>T (p.Asn301Ile) | |
| 9 | g.137449664T>C | CA5369972 | NSMF | c.1424A>G (p.Asn475Ser) c.1430A>G (p.Asn477Ser) c.821A>G (p.Asn274Ser) c.1340A>G (p.Asn447Ser) c.1355A>G (p.Asn452Ser) c.422A>G (p.Asn141Ser) c.1361A>G (p.Asn454Ser) n.876A>G c.1334A>G (p.Asn445Ser) c.1265A>G (p.Asn422Ser) c.1271A>G (p.Asn424Ser) c.629A>G (p.Asn210Ser) c.902A>G (p.Asn301Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137449664T>G | CA375754220 | NSMF | c.1424A>C (p.Asn475Thr) c.1430A>C (p.Asn477Thr) c.821A>C (p.Asn274Thr) c.1340A>C (p.Asn447Thr) c.1355A>C (p.Asn452Thr) c.422A>C (p.Asn141Thr) c.1361A>C (p.Asn454Thr) n.876A>C c.1334A>C (p.Asn445Thr) c.1265A>C (p.Asn422Thr) c.1271A>C (p.Asn424Thr) c.629A>C (p.Asn210Thr) c.902A>C (p.Asn301Thr) | |
| 9 | g.137449664T= | CA1884492718 | NSMF | c.1424A= (p.Asn475=) c.1430A= (p.Asn477=) c.821A= (p.Asn274=) c.1340A= (p.Asn447=) c.1355A= (p.Asn452=) c.422A= (p.Asn141=) c.1361A= (p.Asn454=) n.876A= c.1334A= (p.Asn445=) c.1265A= (p.Asn422=) c.1271A= (p.Asn424=) c.629A= (p.Asn210=) c.902A= (p.Asn301=) | |
| 9 | g.137449665T>A | CA375754221 | NSMF | c.1423A>T (p.Asn475Tyr) c.1429A>T (p.Asn477Tyr) c.820A>T (p.Asn274Tyr) c.1339A>T (p.Asn447Tyr) c.1354A>T (p.Asn452Tyr) c.421A>T (p.Asn141Tyr) c.1360A>T (p.Asn454Tyr) n.875A>T c.1333A>T (p.Asn445Tyr) c.1264A>T (p.Asn422Tyr) c.1270A>T (p.Asn424Tyr) c.628A>T (p.Asn210Tyr) c.901A>T (p.Asn301Tyr) | |
| 9 | g.137449665T>C | CA375754222 | NSMF | c.1423A>G (p.Asn475Asp) c.1429A>G (p.Asn477Asp) c.820A>G (p.Asn274Asp) c.1339A>G (p.Asn447Asp) c.1354A>G (p.Asn452Asp) c.421A>G (p.Asn141Asp) c.1360A>G (p.Asn454Asp) n.875A>G c.1333A>G (p.Asn445Asp) c.1264A>G (p.Asn422Asp) c.1270A>G (p.Asn424Asp) c.628A>G (p.Asn210Asp) c.901A>G (p.Asn301Asp) | |
| 9 | g.137449665T>G | CA375754223 | NSMF | c.1423A>C (p.Asn475His) c.1429A>C (p.Asn477His) c.820A>C (p.Asn274His) c.1339A>C (p.Asn447His) c.1354A>C (p.Asn452His) c.421A>C (p.Asn141His) c.1360A>C (p.Asn454His) n.875A>C c.1333A>C (p.Asn445His) c.1264A>C (p.Asn422His) c.1270A>C (p.Asn424His) c.628A>C (p.Asn210His) c.901A>C (p.Asn301His) | |
| 9 | g.137449666C>A | CA375754224 | NSMF | c.1422G>T (p.Gln474His) c.1428G>T (p.Gln476His) c.819G>T (p.Gln273His) c.1338G>T (p.Gln446His) c.1353G>T (p.Gln451His) c.420G>T (p.Gln140His) c.1359G>T (p.Gln453His) n.874G>T c.1332G>T (p.Gln444His) c.1263G>T (p.Gln421His) c.1269G>T (p.Gln423His) c.627G>T (p.Gln209His) c.900G>T (p.Gln300His) | |
| 9 | g.137449666C>G | CA375754225 | NSMF | c.1422G>C (p.Gln474His) c.1428G>C (p.Gln476His) c.819G>C (p.Gln273His) c.1338G>C (p.Gln446His) c.1353G>C (p.Gln451His) c.420G>C (p.Gln140His) c.1359G>C (p.Gln453His) n.874G>C c.1332G>C (p.Gln444His) c.1263G>C (p.Gln421His) c.1269G>C (p.Gln423His) c.627G>C (p.Gln209His) c.900G>C (p.Gln300His) | |
| 9 | g.137449666C>T | CA467868374 | NSMF | c.1422G>A (p.Gln474=) c.1428G>A (p.Gln476=) c.819G>A (p.Gln273=) c.1338G>A (p.Gln446=) c.1353G>A (p.Gln451=) c.420G>A (p.Gln140=) c.1359G>A (p.Gln453=) n.874G>A c.1332G>A (p.Gln444=) c.1263G>A (p.Gln421=) c.1269G>A (p.Gln423=) c.627G>A (p.Gln209=) c.900G>A (p.Gln300=) | |
| 9 | g.137449667T>A | CA375754226 | NSMF | c.1421A>T (p.Gln474Leu) c.1427A>T (p.Gln476Leu) c.818A>T (p.Gln273Leu) c.1337A>T (p.Gln446Leu) c.1352A>T (p.Gln451Leu) c.419A>T (p.Gln140Leu) c.1358A>T (p.Gln453Leu) n.873A>T c.1331A>T (p.Gln444Leu) c.1262A>T (p.Gln421Leu) c.1268A>T (p.Gln423Leu) c.626A>T (p.Gln209Leu) c.899A>T (p.Gln300Leu) | |
| 9 | g.137449667T>C | CA375754227 | NSMF | c.1421A>G (p.Gln474Arg) c.1427A>G (p.Gln476Arg) c.818A>G (p.Gln273Arg) c.1337A>G (p.Gln446Arg) c.1352A>G (p.Gln451Arg) c.419A>G (p.Gln140Arg) c.1358A>G (p.Gln453Arg) n.873A>G c.1331A>G (p.Gln444Arg) c.1262A>G (p.Gln421Arg) c.1268A>G (p.Gln423Arg) c.626A>G (p.Gln209Arg) c.899A>G (p.Gln300Arg) | |
| 9 | g.137449667T>G | CA375754228 | NSMF | c.1421A>C (p.Gln474Pro) c.1427A>C (p.Gln476Pro) c.818A>C (p.Gln273Pro) c.1337A>C (p.Gln446Pro) c.1352A>C (p.Gln451Pro) c.419A>C (p.Gln140Pro) c.1358A>C (p.Gln453Pro) n.873A>C c.1331A>C (p.Gln444Pro) c.1262A>C (p.Gln421Pro) c.1268A>C (p.Gln423Pro) c.626A>C (p.Gln209Pro) c.899A>C (p.Gln300Pro) | |
| 9 | g.137449668G>A | CA375754231 | NSMF | c.1420C>T (p.Gln474Ter) c.1426C>T (p.Gln476Ter) c.817C>T (p.Gln273Ter) c.1336C>T (p.Gln446Ter) c.1351C>T (p.Gln451Ter) c.418C>T (p.Gln140Ter) c.1357C>T (p.Gln453Ter) n.872C>T c.1330C>T (p.Gln444Ter) c.1261C>T (p.Gln421Ter) c.1267C>T (p.Gln423Ter) c.625C>T (p.Gln209Ter) c.898C>T (p.Gln300Ter) | |
| 9 | g.137449668G>C | CA375754229 | NSMF | c.1420C>G (p.Gln474Glu) c.1426C>G (p.Gln476Glu) c.817C>G (p.Gln273Glu) c.1336C>G (p.Gln446Glu) c.1351C>G (p.Gln451Glu) c.418C>G (p.Gln140Glu) c.1357C>G (p.Gln453Glu) n.872C>G c.1330C>G (p.Gln444Glu) c.1261C>G (p.Gln421Glu) c.1267C>G (p.Gln423Glu) c.625C>G (p.Gln209Glu) c.898C>G (p.Gln300Glu) | gnomAD v4 |
| 9 | g.137449668G>T | CA375754230 | NSMF | c.1420C>A (p.Gln474Lys) c.1426C>A (p.Gln476Lys) c.817C>A (p.Gln273Lys) c.1336C>A (p.Gln446Lys) c.1351C>A (p.Gln451Lys) c.418C>A (p.Gln140Lys) c.1357C>A (p.Gln453Lys) n.872C>A c.1330C>A (p.Gln444Lys) c.1261C>A (p.Gln421Lys) c.1267C>A (p.Gln423Lys) c.625C>A (p.Gln209Lys) c.898C>A (p.Gln300Lys) | |
| 9 | g.137449669G>A | CA467868375 | NSMF | c.1419C>T (p.Phe473=) c.1425C>T (p.Phe475=) c.816C>T (p.Phe272=) c.1335C>T (p.Phe445=) c.1350C>T (p.Phe450=) c.417C>T (p.Phe139=) c.1356C>T (p.Phe452=) n.871C>T c.1329C>T (p.Phe443=) c.1260C>T (p.Phe420=) c.1266C>T (p.Phe422=) c.624C>T (p.Phe208=) c.897C>T (p.Phe299=) | |
| 9 | g.137449669G>C | CA375754232 | NSMF | c.1419C>G (p.Phe473Leu) c.1425C>G (p.Phe475Leu) c.816C>G (p.Phe272Leu) c.1335C>G (p.Phe445Leu) c.1350C>G (p.Phe450Leu) c.417C>G (p.Phe139Leu) c.1356C>G (p.Phe452Leu) n.871C>G c.1329C>G (p.Phe443Leu) c.1260C>G (p.Phe420Leu) c.1266C>G (p.Phe422Leu) c.624C>G (p.Phe208Leu) c.897C>G (p.Phe299Leu) | |
| 9 | g.137449669G>T | CA375754233 | NSMF | c.1419C>A (p.Phe473Leu) c.1425C>A (p.Phe475Leu) c.816C>A (p.Phe272Leu) c.1335C>A (p.Phe445Leu) c.1350C>A (p.Phe450Leu) c.417C>A (p.Phe139Leu) c.1356C>A (p.Phe452Leu) n.871C>A c.1329C>A (p.Phe443Leu) c.1260C>A (p.Phe420Leu) c.1266C>A (p.Phe422Leu) c.624C>A (p.Phe208Leu) c.897C>A (p.Phe299Leu) | gnomAD v4 |
| 9 | g.137449670A>C | CA375754234 | NSMF | c.1418T>G (p.Phe473Cys) c.1424T>G (p.Phe475Cys) c.815T>G (p.Phe272Cys) c.1334T>G (p.Phe445Cys) c.1349T>G (p.Phe450Cys) c.416T>G (p.Phe139Cys) c.1355T>G (p.Phe452Cys) n.870T>G c.1328T>G (p.Phe443Cys) c.1259T>G (p.Phe420Cys) c.1265T>G (p.Phe422Cys) c.623T>G (p.Phe208Cys) c.896T>G (p.Phe299Cys) | |
| 9 | g.137449670A>G | CA375754235 | NSMF | c.1418T>C (p.Phe473Ser) c.1424T>C (p.Phe475Ser) c.815T>C (p.Phe272Ser) c.1334T>C (p.Phe445Ser) c.1349T>C (p.Phe450Ser) c.416T>C (p.Phe139Ser) c.1355T>C (p.Phe452Ser) n.870T>C c.1328T>C (p.Phe443Ser) c.1259T>C (p.Phe420Ser) c.1265T>C (p.Phe422Ser) c.623T>C (p.Phe208Ser) c.896T>C (p.Phe299Ser) | |
| 9 | g.137449670A>T | CA375754236 | NSMF | c.1418T>A (p.Phe473Tyr) c.1424T>A (p.Phe475Tyr) c.815T>A (p.Phe272Tyr) c.1334T>A (p.Phe445Tyr) c.1349T>A (p.Phe450Tyr) c.416T>A (p.Phe139Tyr) c.1355T>A (p.Phe452Tyr) n.870T>A c.1328T>A (p.Phe443Tyr) c.1259T>A (p.Phe420Tyr) c.1265T>A (p.Phe422Tyr) c.623T>A (p.Phe208Tyr) c.896T>A (p.Phe299Tyr) |