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 |
|---|---|---|---|---|---|
| 3 | g.189894304_189894305delinsTC | CA1428535234 | TP63 | c.1845_1846delinsTC (p.His615=) c.1563_1564delinsTC (p.His521=) c.*73_*74delinsTC (n.*73_*74delinsTC) c.1833_1834delinsTC (p.His611=) c.1308_1309delinsTC (p.His436=) c.1551_1552delinsTC (p.His517=) c.*83_*84delinsTC (n.*83_*84delinsTC) c.1794_1795delinsTC (p.His598=) c.1842_1843delinsTC (p.His614=) c.1839_1840delinsTC (p.His613=) c.1806_1807delinsTC (p.His602=) | |
| 3 | g.189894305del | CA343282 | TP63 | c.1846del (p.Leu616SerfsTer?) c.1564del (p.Leu522SerfsTer?) c.*74del (n.*74del) c.1834del (p.Leu612SerfsTer?) c.1309del (p.Leu437SerfsTer?) c.1552del (p.Leu518SerfsTer?) c.*84del (n.*84del) c.1795del (p.Leu599SerfsTer?) c.1843del (p.Leu615SerfsTer?) c.1840del (p.Leu614SerfsTer?) c.1807del (p.Leu603SerfsTer?) | ClinVar dbSNP |
| 3 | g.189894305C>A | CA355751326 | TP63 | c.1846C>A (p.Leu616Ile) c.1564C>A (p.Leu522Ile) c.*74C>A (n.*74C>A) c.1834C>A (p.Leu612Ile) c.1309C>A (p.Leu437Ile) c.1552C>A (p.Leu518Ile) c.*84C>A (n.*84C>A) c.1795C>A (p.Leu599Ile) c.1843C>A (p.Leu615Ile) c.1840C>A (p.Leu614Ile) c.1807C>A (p.Leu603Ile) | dbSNP |
| 3 | g.189894305C>G | CA355751327 | TP63 | c.1846C>G (p.Leu616Val) c.1564C>G (p.Leu522Val) c.*74C>G (n.*74C>G) c.1834C>G (p.Leu612Val) c.1309C>G (p.Leu437Val) c.1552C>G (p.Leu518Val) c.*84C>G (n.*84C>G) c.1795C>G (p.Leu599Val) c.1843C>G (p.Leu615Val) c.1840C>G (p.Leu614Val) c.1807C>G (p.Leu603Val) | |
| 3 | g.189894305C>T | CA355751328 | TP63 | c.1846C>T (p.Leu616Phe) c.1564C>T (p.Leu522Phe) c.*74C>T (n.*74C>T) c.1834C>T (p.Leu612Phe) c.1309C>T (p.Leu437Phe) c.1552C>T (p.Leu518Phe) c.*84C>T (n.*84C>T) c.1795C>T (p.Leu599Phe) c.1843C>T (p.Leu615Phe) c.1840C>T (p.Leu614Phe) c.1807C>T (p.Leu603Phe) | ClinVar dbSNP |
| 3 | g.189894306T>A | CA355751329 | TP63 | c.1847T>A (p.Leu616His) c.1565T>A (p.Leu522His) c.*75T>A (n.*75T>A) c.1835T>A (p.Leu612His) c.1310T>A (p.Leu437His) c.1553T>A (p.Leu518His) c.*85T>A (n.*85T>A) c.1796T>A (p.Leu599His) c.1844T>A (p.Leu615His) c.1841T>A (p.Leu614His) c.1808T>A (p.Leu603His) | |
| 3 | g.189894306T>C | CA355751330 | TP63 | c.1847T>C (p.Leu616Pro) c.1565T>C (p.Leu522Pro) c.*75T>C (n.*75T>C) c.1835T>C (p.Leu612Pro) c.1310T>C (p.Leu437Pro) c.1553T>C (p.Leu518Pro) c.*85T>C (n.*85T>C) c.1796T>C (p.Leu599Pro) c.1844T>C (p.Leu615Pro) c.1841T>C (p.Leu614Pro) c.1808T>C (p.Leu603Pro) | |
| 3 | g.189894306T>G | CA355751331 | TP63 | c.1847T>G (p.Leu616Arg) c.1565T>G (p.Leu522Arg) c.*75T>G (n.*75T>G) c.1835T>G (p.Leu612Arg) c.1310T>G (p.Leu437Arg) c.1553T>G (p.Leu518Arg) c.*85T>G (n.*85T>G) c.1796T>G (p.Leu599Arg) c.1844T>G (p.Leu615Arg) c.1841T>G (p.Leu614Arg) c.1808T>G (p.Leu603Arg) | |
| 3 | g.189894307C>A | CA437637077 | TP63 | c.1848C>A (p.Leu616=) c.1566C>A (p.Leu522=) c.*76C>A (n.*76C>A) c.1836C>A (p.Leu612=) c.1311C>A (p.Leu437=) c.1554C>A (p.Leu518=) c.*86C>A (n.*86C>A) c.1797C>A (p.Leu599=) c.1845C>A (p.Leu615=) c.1842C>A (p.Leu614=) c.1809C>A (p.Leu603=) | |
| 3 | g.189894307C>G | CA437637078 | TP63 | c.1848C>G (p.Leu616=) c.1566C>G (p.Leu522=) c.*76C>G (n.*76C>G) c.1836C>G (p.Leu612=) c.1311C>G (p.Leu437=) c.1554C>G (p.Leu518=) c.*86C>G (n.*86C>G) c.1797C>G (p.Leu599=) c.1845C>G (p.Leu615=) c.1842C>G (p.Leu614=) c.1809C>G (p.Leu603=) | dbSNP |
| 3 | g.189894307C>T | CA437637080 | TP63 | c.1848C>T (p.Leu616=) c.1566C>T (p.Leu522=) c.*76C>T (n.*76C>T) c.1836C>T (p.Leu612=) c.1311C>T (p.Leu437=) c.1554C>T (p.Leu518=) c.*86C>T (n.*86C>T) c.1797C>T (p.Leu599=) c.1845C>T (p.Leu615=) c.1842C>T (p.Leu614=) c.1809C>T (p.Leu603=) | dbSNP COSMIC COSMIC |
| 3 | g.189894308C>A | CA355751332 | TP63 | c.1849C>A (p.Leu617Met) c.1567C>A (p.Leu523Met) c.*77C>A (n.*77C>A) c.1837C>A (p.Leu613Met) c.1312C>A (p.Leu438Met) c.1555C>A (p.Leu519Met) c.*87C>A (n.*87C>A) c.1798C>A (p.Leu600Met) c.1846C>A (p.Leu616Met) c.1843C>A (p.Leu615Met) c.1810C>A (p.Leu604Met) | dbSNP |
| 3 | g.189894308C>G | CA355751333 | TP63 | c.1849C>G (p.Leu617Val) c.1567C>G (p.Leu523Val) c.*77C>G (n.*77C>G) c.1837C>G (p.Leu613Val) c.1312C>G (p.Leu438Val) c.1555C>G (p.Leu519Val) c.*87C>G (n.*87C>G) c.1798C>G (p.Leu600Val) c.1846C>G (p.Leu616Val) c.1843C>G (p.Leu615Val) c.1810C>G (p.Leu604Val) | dbSNP |
| 3 | g.189894308C>T | CA437637081 | TP63 | c.1849C>T (p.Leu617=) c.1567C>T (p.Leu523=) c.*77C>T (n.*77C>T) c.1837C>T (p.Leu613=) c.1312C>T (p.Leu438=) c.1555C>T (p.Leu519=) c.*87C>T (n.*87C>T) c.1798C>T (p.Leu600=) c.1846C>T (p.Leu616=) c.1843C>T (p.Leu615=) c.1810C>T (p.Leu604=) | dbSNP |
| 3 | g.189894309T>A | CA355751334 | TP63 | c.1850T>A (p.Leu617Gln) c.1568T>A (p.Leu523Gln) c.*78T>A (n.*78T>A) c.1838T>A (p.Leu613Gln) c.1313T>A (p.Leu438Gln) c.1556T>A (p.Leu519Gln) c.*88T>A (n.*88T>A) c.1799T>A (p.Leu600Gln) c.1847T>A (p.Leu616Gln) c.1844T>A (p.Leu615Gln) c.1811T>A (p.Leu604Gln) | |
| 3 | g.189894309T>C | CA355751335 | TP63 | c.1850T>C (p.Leu617Pro) c.1568T>C (p.Leu523Pro) c.*78T>C (n.*78T>C) c.1838T>C (p.Leu613Pro) c.1313T>C (p.Leu438Pro) c.1556T>C (p.Leu519Pro) c.*88T>C (n.*88T>C) c.1799T>C (p.Leu600Pro) c.1847T>C (p.Leu616Pro) c.1844T>C (p.Leu615Pro) c.1811T>C (p.Leu604Pro) | |
| 3 | g.189894309T>G | CA355751336 | TP63 | c.1850T>G (p.Leu617Arg) c.1568T>G (p.Leu523Arg) c.*78T>G (n.*78T>G) c.1838T>G (p.Leu613Arg) c.1313T>G (p.Leu438Arg) c.1556T>G (p.Leu519Arg) c.*88T>G (n.*88T>G) c.1799T>G (p.Leu600Arg) c.1847T>G (p.Leu616Arg) c.1844T>G (p.Leu615Arg) c.1811T>G (p.Leu604Arg) | |
| 3 | g.189894310G>A | CA2752587 | TP63 | c.1851G>A (p.Leu617=) c.1569G>A (p.Leu523=) c.*79G>A (n.*79G>A) c.1839G>A (p.Leu613=) c.1314G>A (p.Leu438=) c.1557G>A (p.Leu519=) c.*89G>A (n.*89G>A) c.1800G>A (p.Leu600=) c.1848G>A (p.Leu616=) c.1845G>A (p.Leu615=) c.1812G>A (p.Leu604=) | dbSNP ExAC gnomAD v2 |
| 3 | g.189894310G>C | CA437637085 | TP63 | c.1851G>C (p.Leu617=) c.1569G>C (p.Leu523=) c.*79G>C (n.*79G>C) c.1839G>C (p.Leu613=) c.1314G>C (p.Leu438=) c.1557G>C (p.Leu519=) c.*89G>C (n.*89G>C) c.1800G>C (p.Leu600=) c.1848G>C (p.Leu616=) c.1845G>C (p.Leu615=) c.1812G>C (p.Leu604=) | dbSNP |
| 3 | g.189894310G= | CA1428535235 | TP63 | c.1851G= (p.Leu617=) c.1569G= (p.Leu523=) c.*79G= (n.*79G=) c.1839G= (p.Leu613=) c.1314G= (p.Leu438=) c.1557G= (p.Leu519=) c.*89G= (n.*89G=) c.1800G= (p.Leu600=) c.1848G= (p.Leu616=) c.1845G= (p.Leu615=) c.1812G= (p.Leu604=) | |
| 3 | g.189894310G>T | CA437637086 | TP63 | c.1851G>T (p.Leu617=) c.1569G>T (p.Leu523=) c.*79G>T (n.*79G>T) c.1839G>T (p.Leu613=) c.1314G>T (p.Leu438=) c.1557G>T (p.Leu519=) c.*89G>T (n.*89G>T) c.1800G>T (p.Leu600=) c.1848G>T (p.Leu616=) c.1845G>T (p.Leu615=) c.1812G>T (p.Leu604=) | dbSNP |
| 3 | g.189894310_189894311delinsTT | CA2697557022 | TP63 | c.1851_1852delinsTT (p.Arg618Trp) c.1569_1570delinsTT (p.Arg524Trp) c.*79_*80delinsTT (n.*79_*80delinsTT) c.1839_1840delinsTT (p.Arg614Trp) c.1314_1315delinsTT (p.Arg439Trp) c.1557_1558delinsTT (p.Arg520Trp) c.*89_*90delinsTT (n.*89_*90delinsTT) c.1800_1801delinsTT (p.Arg601Trp) c.1848_1849delinsTT (p.Arg617Trp) c.1845_1846delinsTT (p.Arg616Trp) c.1812_1813delinsTT (p.Arg605Trp) | ClinVar |
| 3 | g.189894311C>A | CA437637087 | TP63 | c.1852C>A (p.Arg618=) c.1570C>A (p.Arg524=) c.*80C>A (n.*80C>A) c.1840C>A (p.Arg614=) c.1315C>A (p.Arg439=) c.1558C>A (p.Arg520=) c.*90C>A (n.*90C>A) c.1801C>A (p.Arg601=) c.1849C>A (p.Arg617=) c.1846C>A (p.Arg616=) c.1813C>A (p.Arg605=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189894311C= | CA1428535236 | TP63 | c.1852C= (p.Arg618=) c.1570C= (p.Arg524=) c.*80C= (n.*80C=) c.1840C= (p.Arg614=) c.1315C= (p.Arg439=) c.1558C= (p.Arg520=) c.*90C= (n.*90C=) c.1801C= (p.Arg601=) c.1849C= (p.Arg617=) c.1846C= (p.Arg616=) c.1813C= (p.Arg605=) | |
| 3 | g.189894311C>G | CA355751337 | TP63 | c.1852C>G (p.Arg618Gly) c.1570C>G (p.Arg524Gly) c.*80C>G (n.*80C>G) c.1840C>G (p.Arg614Gly) c.1315C>G (p.Arg439Gly) c.1558C>G (p.Arg520Gly) c.*90C>G (n.*90C>G) c.1801C>G (p.Arg601Gly) c.1849C>G (p.Arg617Gly) c.1846C>G (p.Arg616Gly) c.1813C>G (p.Arg605Gly) | dbSNP gnomAD v4 |
| 3 | g.189894311C>T | CA355751338 | TP63 | c.1852C>T (p.Arg618Trp) c.1570C>T (p.Arg524Trp) c.*80C>T (n.*80C>T) c.1840C>T (p.Arg614Trp) c.1315C>T (p.Arg439Trp) c.1558C>T (p.Arg520Trp) c.*90C>T (n.*90C>T) c.1801C>T (p.Arg601Trp) c.1849C>T (p.Arg617Trp) c.1846C>T (p.Arg616Trp) c.1813C>T (p.Arg605Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189894312G>A | CA2752588 | TP63 | c.1853G>A (p.Arg618Gln) c.1571G>A (p.Arg524Gln) c.*81G>A (n.*81G>A) c.1841G>A (p.Arg614Gln) c.1316G>A (p.Arg439Gln) c.1559G>A (p.Arg520Gln) c.*91G>A (n.*91G>A) c.1802G>A (p.Arg601Gln) c.1850G>A (p.Arg617Gln) c.1847G>A (p.Arg616Gln) c.1814G>A (p.Arg605Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189894312G>C | CA355751339 | TP63 | c.1853G>C (p.Arg618Pro) c.1571G>C (p.Arg524Pro) c.*81G>C (n.*81G>C) c.1841G>C (p.Arg614Pro) c.1316G>C (p.Arg439Pro) c.1559G>C (p.Arg520Pro) c.*91G>C (n.*91G>C) c.1802G>C (p.Arg601Pro) c.1850G>C (p.Arg617Pro) c.1847G>C (p.Arg616Pro) c.1814G>C (p.Arg605Pro) | dbSNP |
| 3 | g.189894312G= | CA1428535237 | TP63 | c.1853G= (p.Arg618=) c.1571G= (p.Arg524=) c.*81G= (n.*81G=) c.1841G= (p.Arg614=) c.1316G= (p.Arg439=) c.1559G= (p.Arg520=) c.*91G= (n.*91G=) c.1802G= (p.Arg601=) c.1850G= (p.Arg617=) c.1847G= (p.Arg616=) c.1814G= (p.Arg605=) | |
| 3 | g.189894312G>T | CA355751340 | TP63 | c.1853G>T (p.Arg618Leu) c.1571G>T (p.Arg524Leu) c.*81G>T (n.*81G>T) c.1841G>T (p.Arg614Leu) c.1316G>T (p.Arg439Leu) c.1559G>T (p.Arg520Leu) c.*91G>T (n.*91G>T) c.1802G>T (p.Arg601Leu) c.1850G>T (p.Arg617Leu) c.1847G>T (p.Arg616Leu) c.1814G>T (p.Arg605Leu) | dbSNP |
| 3 | g.189894313G>A | CA437637089 | TP63 | c.1854G>A (p.Arg618=) c.1572G>A (p.Arg524=) c.*82G>A (n.*82G>A) c.1842G>A (p.Arg614=) c.1317G>A (p.Arg439=) c.1560G>A (p.Arg520=) c.*92G>A (n.*92G>A) c.1803G>A (p.Arg601=) c.1851G>A (p.Arg617=) c.1848G>A (p.Arg616=) c.1815G>A (p.Arg605=) | dbSNP gnomAD v4 |
| 3 | g.189894313G>C | CA437637091 | TP63 | c.1854G>C (p.Arg618=) c.1572G>C (p.Arg524=) c.*82G>C (n.*82G>C) c.1842G>C (p.Arg614=) c.1317G>C (p.Arg439=) c.1560G>C (p.Arg520=) c.*92G>C (n.*92G>C) c.1803G>C (p.Arg601=) c.1851G>C (p.Arg617=) c.1848G>C (p.Arg616=) c.1815G>C (p.Arg605=) | dbSNP |
| 3 | g.189894313G>T | CA437637092 | TP63 | c.1854G>T (p.Arg618=) c.1572G>T (p.Arg524=) c.*82G>T (n.*82G>T) c.1842G>T (p.Arg614=) c.1317G>T (p.Arg439=) c.1560G>T (p.Arg520=) c.*92G>T (n.*92G>T) c.1803G>T (p.Arg601=) c.1851G>T (p.Arg617=) c.1848G>T (p.Arg616=) c.1815G>T (p.Arg605=) | dbSNP |
| 3 | g.189894314A>C | CA355751341 | TP63 | c.1855A>C (p.Thr619Pro) c.1573A>C (p.Thr525Pro) c.*83A>C (n.*83A>C) c.1843A>C (p.Thr615Pro) c.1318A>C (p.Thr440Pro) c.1561A>C (p.Thr521Pro) c.*93A>C (n.*93A>C) c.1804A>C (p.Thr602Pro) c.1852A>C (p.Thr618Pro) c.1849A>C (p.Thr617Pro) c.1816A>C (p.Thr606Pro) | |
| 3 | g.189894314A>G | CA355751342 | TP63 | c.1855A>G (p.Thr619Ala) c.1573A>G (p.Thr525Ala) c.*83A>G (n.*83A>G) c.1843A>G (p.Thr615Ala) c.1318A>G (p.Thr440Ala) c.1561A>G (p.Thr521Ala) c.*93A>G (n.*93A>G) c.1804A>G (p.Thr602Ala) c.1852A>G (p.Thr618Ala) c.1849A>G (p.Thr617Ala) c.1816A>G (p.Thr606Ala) | |
| 3 | g.189894314A>T | CA355751343 | TP63 | c.1855A>T (p.Thr619Ser) c.1573A>T (p.Thr525Ser) c.*83A>T (n.*83A>T) c.1843A>T (p.Thr615Ser) c.1318A>T (p.Thr440Ser) c.1561A>T (p.Thr521Ser) c.*93A>T (n.*93A>T) c.1804A>T (p.Thr602Ser) c.1852A>T (p.Thr618Ser) c.1849A>T (p.Thr617Ser) c.1816A>T (p.Thr606Ser) | |
| 3 | g.189894315C>A | CA355751344 | TP63 | c.1856C>A (p.Thr619Asn) c.1574C>A (p.Thr525Asn) c.*84C>A (n.*84C>A) c.1844C>A (p.Thr615Asn) c.1319C>A (p.Thr440Asn) c.1562C>A (p.Thr521Asn) c.*94C>A (n.*94C>A) c.1805C>A (p.Thr602Asn) c.1853C>A (p.Thr618Asn) c.1850C>A (p.Thr617Asn) c.1817C>A (p.Thr606Asn) | |
| 3 | g.189894315C>G | CA355751345 | TP63 | c.1856C>G (p.Thr619Ser) c.1574C>G (p.Thr525Ser) c.*84C>G (n.*84C>G) c.1844C>G (p.Thr615Ser) c.1319C>G (p.Thr440Ser) c.1562C>G (p.Thr521Ser) c.*94C>G (n.*94C>G) c.1805C>G (p.Thr602Ser) c.1853C>G (p.Thr618Ser) c.1850C>G (p.Thr617Ser) c.1817C>G (p.Thr606Ser) | dbSNP |
| 3 | g.189894315C>T | CA355751346 | TP63 | c.1856C>T (p.Thr619Ile) c.1574C>T (p.Thr525Ile) c.*84C>T (n.*84C>T) c.1844C>T (p.Thr615Ile) c.1319C>T (p.Thr440Ile) c.1562C>T (p.Thr521Ile) c.*94C>T (n.*94C>T) c.1805C>T (p.Thr602Ile) c.1853C>T (p.Thr618Ile) c.1850C>T (p.Thr617Ile) c.1817C>T (p.Thr606Ile) | dbSNP |
| 3 | g.189894318del | CA2586973406 | TP63 | c.1859del (p.Pro620GlnfsTer?) c.1577del (p.Pro526GlnfsTer?) c.*87del (n.*87del) c.1847del (p.Pro616GlnfsTer?) c.1322del (p.Pro441GlnfsTer?) c.1565del (p.Pro522GlnfsTer?) c.*97del (n.*97del) c.1808del (p.Pro603GlnfsTer?) c.1856del (p.Pro619GlnfsTer?) c.1853del (p.Pro618GlnfsTer?) c.1820del (p.Pro607GlnfsTer?) | |
| 3 | g.189894316C>A | CA437637095 | TP63 | c.1857C>A (p.Thr619=) c.1575C>A (p.Thr525=) c.*85C>A (n.*85C>A) c.1845C>A (p.Thr615=) c.1320C>A (p.Thr440=) c.1563C>A (p.Thr521=) c.*95C>A (n.*95C>A) c.1806C>A (p.Thr602=) c.1854C>A (p.Thr618=) c.1851C>A (p.Thr617=) c.1818C>A (p.Thr606=) | dbSNP |
| 3 | g.189894316C= | CA1428535238 | TP63 | c.1857C= (p.Thr619=) c.1575C= (p.Thr525=) c.*85C= (n.*85C=) c.1845C= (p.Thr615=) c.1320C= (p.Thr440=) c.1563C= (p.Thr521=) c.*95C= (n.*95C=) c.1806C= (p.Thr602=) c.1854C= (p.Thr618=) c.1851C= (p.Thr617=) c.1818C= (p.Thr606=) | |
| 3 | g.189894316C>G | CA437637094 | TP63 | c.1857C>G (p.Thr619=) c.1575C>G (p.Thr525=) c.*85C>G (n.*85C>G) c.1845C>G (p.Thr615=) c.1320C>G (p.Thr440=) c.1563C>G (p.Thr521=) c.*95C>G (n.*95C>G) c.1806C>G (p.Thr602=) c.1854C>G (p.Thr618=) c.1851C>G (p.Thr617=) c.1818C>G (p.Thr606=) | |
| 3 | g.189894316C>T | CA437637096 | TP63 | c.1857C>T (p.Thr619=) c.1575C>T (p.Thr525=) c.*85C>T (n.*85C>T) c.1845C>T (p.Thr615=) c.1320C>T (p.Thr440=) c.1563C>T (p.Thr521=) c.*95C>T (n.*95C>T) c.1806C>T (p.Thr602=) c.1854C>T (p.Thr618=) c.1851C>T (p.Thr617=) c.1818C>T (p.Thr606=) | dbSNP gnomAD v4 |
| 3 | g.189894317C>A | CA355751347 | TP63 | c.1858C>A (p.Pro620Thr) c.1576C>A (p.Pro526Thr) c.*86C>A (n.*86C>A) c.1846C>A (p.Pro616Thr) c.1321C>A (p.Pro441Thr) c.1564C>A (p.Pro522Thr) c.*96C>A (n.*96C>A) c.1807C>A (p.Pro603Thr) c.1855C>A (p.Pro619Thr) c.1852C>A (p.Pro618Thr) c.1819C>A (p.Pro607Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189894317C= | CA1428535239 | TP63 | c.1858C= (p.Pro620=) c.1576C= (p.Pro526=) c.*86C= (n.*86C=) c.1846C= (p.Pro616=) c.1321C= (p.Pro441=) c.1564C= (p.Pro522=) c.*96C= (n.*96C=) c.1807C= (p.Pro603=) c.1855C= (p.Pro619=) c.1852C= (p.Pro618=) c.1819C= (p.Pro607=) | |
| 3 | g.189894317C>G | CA355751348 | TP63 | c.1858C>G (p.Pro620Ala) c.1576C>G (p.Pro526Ala) c.*86C>G (n.*86C>G) c.1846C>G (p.Pro616Ala) c.1321C>G (p.Pro441Ala) c.1564C>G (p.Pro522Ala) c.*96C>G (n.*96C>G) c.1807C>G (p.Pro603Ala) c.1855C>G (p.Pro619Ala) c.1852C>G (p.Pro618Ala) c.1819C>G (p.Pro607Ala) | dbSNP |
| 3 | g.189894317C>T | CA355751349 | TP63 | c.1858C>T (p.Pro620Ser) c.1576C>T (p.Pro526Ser) c.*86C>T (n.*86C>T) c.1846C>T (p.Pro616Ser) c.1321C>T (p.Pro441Ser) c.1564C>T (p.Pro522Ser) c.*96C>T (n.*96C>T) c.1807C>T (p.Pro603Ser) c.1855C>T (p.Pro619Ser) c.1852C>T (p.Pro618Ser) c.1819C>T (p.Pro607Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189894318C>A | CA355751350 | TP63 | c.1859C>A (p.Pro620Gln) c.1577C>A (p.Pro526Gln) c.*87C>A (n.*87C>A) c.1847C>A (p.Pro616Gln) c.1322C>A (p.Pro441Gln) c.1565C>A (p.Pro522Gln) c.*97C>A (n.*97C>A) c.1808C>A (p.Pro603Gln) c.1856C>A (p.Pro619Gln) c.1853C>A (p.Pro618Gln) c.1820C>A (p.Pro607Gln) | dbSNP |
| 3 | g.189894318C>G | CA355751351 | TP63 | c.1859C>G (p.Pro620Arg) c.1577C>G (p.Pro526Arg) c.*87C>G (n.*87C>G) c.1847C>G (p.Pro616Arg) c.1322C>G (p.Pro441Arg) c.1565C>G (p.Pro522Arg) c.*97C>G (n.*97C>G) c.1808C>G (p.Pro603Arg) c.1856C>G (p.Pro619Arg) c.1853C>G (p.Pro618Arg) c.1820C>G (p.Pro607Arg) | dbSNP |