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.132905474_132906041del | CA2739264830 | TSC1 | c.1535_1994+108del c.1538_1997+108del c.1151_1610+108del c.1175_1634+108del c.1382_1841+108del c.*1308_*1767+108del c.1385_1844+108del c.56_515+108del c.275_734+108del c.*1305_*1764+108del n.1913_2372+108del n.493_952+108del n.2389_2848+108del n.503_962+108del c.*777_*1236+108del n.2414_2873+108del n.602_1061+108del c.1172_1631+108del | ClinVar |
| 9 | g.132905718G>A | CA467813122 | TSC1 | c.1857C>T (p.Val619=) c.1860C>T (p.Val620=) c.1473C>T (p.Val491=) c.1497C>T (p.Val499=) c.1704C>T (p.Val568=) c.*1630C>T (n.*1630C>T) c.1707C>T (p.Val569=) c.378C>T (p.Val126=) c.597C>T (p.Val199=) c.*1627C>T (n.*1627C>T) n.2235C>T n.815C>T n.2711C>T n.825C>T c.*1099C>T (n.*1099C>T) n.2736C>T n.924C>T c.1494C>T (p.Val498=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905718G>C | CA467813123 | TSC1 | c.1857C>G (p.Val619=) c.1860C>G (p.Val620=) c.1473C>G (p.Val491=) c.1497C>G (p.Val499=) c.1704C>G (p.Val568=) c.*1630C>G (n.*1630C>G) c.1707C>G (p.Val569=) c.378C>G (p.Val126=) c.597C>G (p.Val199=) c.*1627C>G (n.*1627C>G) n.2235C>G n.815C>G n.2711C>G n.825C>G c.*1099C>G (n.*1099C>G) n.2736C>G n.924C>G c.1494C>G (p.Val498=) | dbSNP |
| 9 | g.132905718G= | CA1882413721 | TSC1 | c.1857C= (p.Val619=) c.1860C= (p.Val620=) c.1473C= (p.Val491=) c.1497C= (p.Val499=) c.1704C= (p.Val568=) c.*1630C= (n.*1630C=) c.1707C= (p.Val569=) c.378C= (p.Val126=) c.597C= (p.Val199=) c.*1627C= (n.*1627C=) n.2235C= n.815C= n.2711C= n.825C= c.*1099C= (n.*1099C=) n.2736C= n.924C= c.1494C= (p.Val498=) | |
| 9 | g.132905718G>T | CA467813124 | TSC1 | c.1857C>A (p.Val619=) c.1860C>A (p.Val620=) c.1473C>A (p.Val491=) c.1497C>A (p.Val499=) c.1704C>A (p.Val568=) c.*1630C>A (n.*1630C>A) c.1707C>A (p.Val569=) c.378C>A (p.Val126=) c.597C>A (p.Val199=) c.*1627C>A (n.*1627C>A) n.2235C>A n.815C>A n.2711C>A n.825C>A c.*1099C>A (n.*1099C>A) n.2736C>A n.924C>A c.1494C>A (p.Val498=) | dbSNP |
| 9 | g.132905718_132905720delinsGAC | CA1882413720 | TSC1 | c.1855_1857delinsGTC (p.Val619=) c.1858_1860delinsGTC (p.Val620=) c.1471_1473delinsGTC (p.Val491=) c.1495_1497delinsGTC (p.Val499=) c.1702_1704delinsGTC (p.Val568=) c.*1628_*1630delinsGTC (n.*1628_*1630delinsGTC) c.1705_1707delinsGTC (p.Val569=) c.376_378delinsGTC (p.Val126=) c.595_597delinsGTC (p.Val199=) c.*1625_*1627delinsGTC (n.*1625_*1627delinsGTC) n.2233_2235delinsGTC n.813_815delinsGTC n.2709_2711delinsGTC n.823_825delinsGTC c.*1097_*1099delinsGTC (n.*1097_*1099delinsGTC) n.2734_2736delinsGTC n.922_924delinsGTC c.1492_1494delinsGTC (p.Val498=) | |
| 9 | g.132905719A= | CA1882413729 | TSC1 | c.1856T= (p.Val619=) c.1859T= (p.Val620=) c.1472T= (p.Val491=) c.1496T= (p.Val499=) c.1703T= (p.Val568=) c.*1629T= (n.*1629T=) c.1706T= (p.Val569=) c.377T= (p.Val126=) c.596T= (p.Val199=) c.*1626T= (n.*1626T=) n.2234T= n.814T= n.2710T= n.824T= c.*1098T= (n.*1098T=) n.2735T= n.923T= c.1493T= (p.Val498=) | |
| 9 | g.132905719A>C | CA375363092 | TSC1 | c.1856T>G (p.Val619Gly) c.1859T>G (p.Val620Gly) c.1472T>G (p.Val491Gly) c.1496T>G (p.Val499Gly) c.1703T>G (p.Val568Gly) c.*1629T>G (n.*1629T>G) c.1706T>G (p.Val569Gly) c.377T>G (p.Val126Gly) c.596T>G (p.Val199Gly) c.*1626T>G (n.*1626T>G) n.2234T>G n.814T>G n.2710T>G n.824T>G c.*1098T>G (n.*1098T>G) n.2735T>G n.923T>G c.1493T>G (p.Val498Gly) | |
| 9 | g.132905719A>G | CA375363094 | TSC1 | c.1856T>C (p.Val619Ala) c.1859T>C (p.Val620Ala) c.1472T>C (p.Val491Ala) c.1496T>C (p.Val499Ala) c.1703T>C (p.Val568Ala) c.*1629T>C (n.*1629T>C) c.1706T>C (p.Val569Ala) c.377T>C (p.Val126Ala) c.596T>C (p.Val199Ala) c.*1626T>C (n.*1626T>C) n.2234T>C n.814T>C n.2710T>C n.824T>C c.*1098T>C (n.*1098T>C) n.2735T>C n.923T>C c.1493T>C (p.Val498Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.132905719A>T | CA375363097 | TSC1 | c.1856T>A (p.Val619Asp) c.1859T>A (p.Val620Asp) c.1472T>A (p.Val491Asp) c.1496T>A (p.Val499Asp) c.1703T>A (p.Val568Asp) c.*1629T>A (n.*1629T>A) c.1706T>A (p.Val569Asp) c.377T>A (p.Val126Asp) c.596T>A (p.Val199Asp) c.*1626T>A (n.*1626T>A) n.2234T>A n.814T>A n.2710T>A n.824T>A c.*1098T>A (n.*1098T>A) n.2735T>A n.923T>A c.1493T>A (p.Val498Asp) | dbSNP |
| 9 | g.132905720_132905721del | CA1139661278 | TSC1 | c.1855_1856del (p.Val619HisfsTer5) c.1858_1859del (p.Val620HisfsTer5) c.1471_1472del (p.Val491HisfsTer5) c.1495_1496del (p.Val499HisfsTer5) c.1702_1703del (p.Val568HisfsTer5) c.*1628_*1629del (n.*1628_*1629del) c.1705_1706del (p.Val569HisfsTer5) c.376_377del (p.Val126HisfsTer5) c.595_596del (p.Val199HisfsTer5) c.*1625_*1626del (n.*1625_*1626del) n.2233_2234del n.813_814del n.2709_2710del n.823_824del c.*1097_*1098del (n.*1097_*1098del) n.2734_2735del n.922_923del c.1492_1493del (p.Val498HisfsTer5) | ClinVar dbSNP |
| 9 | g.132905720C>A | CA375363099 | TSC1 | c.1855G>T (p.Val619Phe) c.1858G>T (p.Val620Phe) c.1471G>T (p.Val491Phe) c.1495G>T (p.Val499Phe) c.1702G>T (p.Val568Phe) c.*1628G>T (n.*1628G>T) c.1705G>T (p.Val569Phe) c.376G>T (p.Val126Phe) c.595G>T (p.Val199Phe) c.*1625G>T (n.*1625G>T) n.2233G>T n.813G>T n.2709G>T n.823G>T c.*1097G>T (n.*1097G>T) n.2734G>T n.922G>T c.1492G>T (p.Val498Phe) | |
| 9 | g.132905720C>G | CA375363101 | TSC1 | c.1855G>C (p.Val619Leu) c.1858G>C (p.Val620Leu) c.1471G>C (p.Val491Leu) c.1495G>C (p.Val499Leu) c.1702G>C (p.Val568Leu) c.*1628G>C (n.*1628G>C) c.1705G>C (p.Val569Leu) c.376G>C (p.Val126Leu) c.595G>C (p.Val199Leu) c.*1625G>C (n.*1625G>C) n.2233G>C n.813G>C n.2709G>C n.823G>C c.*1097G>C (n.*1097G>C) n.2734G>C n.922G>C c.1492G>C (p.Val498Leu) | |
| 9 | g.132905720C>T | CA375363104 | TSC1 | c.1855G>A (p.Val619Ile) c.1858G>A (p.Val620Ile) c.1471G>A (p.Val491Ile) c.1495G>A (p.Val499Ile) c.1702G>A (p.Val568Ile) c.*1628G>A (n.*1628G>A) c.1705G>A (p.Val569Ile) c.376G>A (p.Val126Ile) c.595G>A (p.Val199Ile) c.*1625G>A (n.*1625G>A) n.2233G>A n.813G>A n.2709G>A n.823G>A c.*1097G>A (n.*1097G>A) n.2734G>A n.922G>A c.1492G>A (p.Val498Ile) | ClinVar |
| 9 | g.132905720_132905721delinsCA | CA1882413730 | TSC1 | c.1854_1855delinsTG (p.Phe618=) c.1857_1858delinsTG (p.Phe619=) c.1470_1471delinsTG (p.Phe490=) c.1494_1495delinsTG (p.Phe498=) c.1701_1702delinsTG (p.Phe567=) c.*1627_*1628delinsTG (n.*1627_*1628delinsTG) c.1704_1705delinsTG (p.Phe568=) c.375_376delinsTG (p.Phe125=) c.594_595delinsTG (p.Phe198=) c.*1624_*1625delinsTG (n.*1624_*1625delinsTG) n.2232_2233delinsTG n.812_813delinsTG n.2708_2709delinsTG n.822_823delinsTG c.*1096_*1097delinsTG (n.*1096_*1097delinsTG) n.2733_2734delinsTG n.921_922delinsTG c.1491_1492delinsTG (p.Phe497=) | |
| 9 | g.132905721A>C | CA375363111 | TSC1 | c.1854T>G (p.Phe618Leu) c.1857T>G (p.Phe619Leu) c.1470T>G (p.Phe490Leu) c.1494T>G (p.Phe498Leu) c.1701T>G (p.Phe567Leu) c.*1627T>G (n.*1627T>G) c.1704T>G (p.Phe568Leu) c.375T>G (p.Phe125Leu) c.594T>G (p.Phe198Leu) c.*1624T>G (n.*1624T>G) n.2232T>G n.812T>G n.2708T>G n.822T>G c.*1096T>G (n.*1096T>G) n.2733T>G n.921T>G c.1491T>G (p.Phe497Leu) | |
| 9 | g.132905721A>G | CA467813125 | TSC1 | c.1854T>C (p.Phe618=) c.1857T>C (p.Phe619=) c.1470T>C (p.Phe490=) c.1494T>C (p.Phe498=) c.1701T>C (p.Phe567=) c.*1627T>C (n.*1627T>C) c.1704T>C (p.Phe568=) c.375T>C (p.Phe125=) c.594T>C (p.Phe198=) c.*1624T>C (n.*1624T>C) n.2232T>C n.812T>C n.2708T>C n.822T>C c.*1096T>C (n.*1096T>C) n.2733T>C n.921T>C c.1491T>C (p.Phe497=) | dbSNP |
| 9 | g.132905721A>T | CA375363109 | TSC1 | c.1854T>A (p.Phe618Leu) c.1857T>A (p.Phe619Leu) c.1470T>A (p.Phe490Leu) c.1494T>A (p.Phe498Leu) c.1701T>A (p.Phe567Leu) c.*1627T>A (n.*1627T>A) c.1704T>A (p.Phe568Leu) c.375T>A (p.Phe125Leu) c.594T>A (p.Phe198Leu) c.*1624T>A (n.*1624T>A) n.2232T>A n.812T>A n.2708T>A n.822T>A c.*1096T>A (n.*1096T>A) n.2733T>A n.921T>A c.1491T>A (p.Phe497Leu) | dbSNP |
| 9 | g.132905724del | CA005489 | TSC1 | c.1854del (p.Phe618LeufsTer10) c.1857del (p.Phe619LeufsTer10) c.1470del (p.Phe490LeufsTer10) c.1494del (p.Phe498LeufsTer10) c.1701del (p.Phe567LeufsTer10) c.*1627del (n.*1627del) c.1704del (p.Phe568LeufsTer10) c.375del (p.Phe125LeufsTer10) c.594del (p.Phe198LeufsTer10) c.*1624del (n.*1624del) n.2232del n.812del n.2708del n.822del c.*1096del (n.*1096del) n.2733del n.921del c.1491del (p.Phe497LeufsTer10) | ClinVar dbSNP |
| 9 | g.132905722A>C | CA375363114 | TSC1 | c.1853T>G (p.Phe618Cys) c.1856T>G (p.Phe619Cys) c.1469T>G (p.Phe490Cys) c.1493T>G (p.Phe498Cys) c.1700T>G (p.Phe567Cys) c.*1626T>G (n.*1626T>G) c.1703T>G (p.Phe568Cys) c.374T>G (p.Phe125Cys) c.593T>G (p.Phe198Cys) c.*1623T>G (n.*1623T>G) n.2231T>G n.811T>G n.2707T>G n.821T>G c.*1095T>G (n.*1095T>G) n.2732T>G n.920T>G c.1490T>G (p.Phe497Cys) | |
| 9 | g.132905722A>G | CA375363116 | TSC1 | c.1853T>C (p.Phe618Ser) c.1856T>C (p.Phe619Ser) c.1469T>C (p.Phe490Ser) c.1493T>C (p.Phe498Ser) c.1700T>C (p.Phe567Ser) c.*1626T>C (n.*1626T>C) c.1703T>C (p.Phe568Ser) c.374T>C (p.Phe125Ser) c.593T>C (p.Phe198Ser) c.*1623T>C (n.*1623T>C) n.2231T>C n.811T>C n.2707T>C n.821T>C c.*1095T>C (n.*1095T>C) n.2732T>C n.920T>C c.1490T>C (p.Phe497Ser) | |
| 9 | g.132905722A>T | CA375363117 | TSC1 | c.1853T>A (p.Phe618Tyr) c.1856T>A (p.Phe619Tyr) c.1469T>A (p.Phe490Tyr) c.1493T>A (p.Phe498Tyr) c.1700T>A (p.Phe567Tyr) c.*1626T>A (n.*1626T>A) c.1703T>A (p.Phe568Tyr) c.374T>A (p.Phe125Tyr) c.593T>A (p.Phe198Tyr) c.*1623T>A (n.*1623T>A) n.2231T>A n.811T>A n.2707T>A n.821T>A c.*1095T>A (n.*1095T>A) n.2732T>A n.920T>A c.1490T>A (p.Phe497Tyr) | dbSNP |
| 9 | g.132905722_132905723delinsTT | CA1139661279 | TSC1 | c.1852_1853delinsAA (p.Phe618Asn) c.1855_1856delinsAA (p.Phe619Asn) c.1468_1469delinsAA (p.Phe490Asn) c.1492_1493delinsAA (p.Phe498Asn) c.1699_1700delinsAA (p.Phe567Asn) c.*1625_*1626delinsAA (n.*1625_*1626delinsAA) c.1702_1703delinsAA (p.Phe568Asn) c.373_374delinsAA (p.Phe125Asn) c.592_593delinsAA (p.Phe198Asn) c.*1622_*1623delinsAA (n.*1622_*1623delinsAA) n.2230_2231delinsAA n.810_811delinsAA n.2706_2707delinsAA n.820_821delinsAA c.*1094_*1095delinsAA (n.*1094_*1095delinsAA) n.2731_2732delinsAA n.919_920delinsAA c.1489_1490delinsAA (p.Phe497Asn) | ClinVar |
| 9 | g.132905723A= | CA1882413734 | TSC1 | c.1852T= (p.Phe618=) c.1855T= (p.Phe619=) c.1468T= (p.Phe490=) c.1492T= (p.Phe498=) c.1699T= (p.Phe567=) c.*1625T= (n.*1625T=) c.1702T= (p.Phe568=) c.373T= (p.Phe125=) c.592T= (p.Phe198=) c.*1622T= (n.*1622T=) n.2230T= n.810T= n.2706T= n.820T= c.*1094T= (n.*1094T=) n.2731T= n.919T= c.1489T= (p.Phe497=) | |
| 9 | g.132905723A>C | CA375363120 | TSC1 | c.1852T>G (p.Phe618Val) c.1855T>G (p.Phe619Val) c.1468T>G (p.Phe490Val) c.1492T>G (p.Phe498Val) c.1699T>G (p.Phe567Val) c.*1625T>G (n.*1625T>G) c.1702T>G (p.Phe568Val) c.373T>G (p.Phe125Val) c.592T>G (p.Phe198Val) c.*1622T>G (n.*1622T>G) n.2230T>G n.810T>G n.2706T>G n.820T>G c.*1094T>G (n.*1094T>G) n.2731T>G n.919T>G c.1489T>G (p.Phe497Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905723A>G | CA375363122 | TSC1 | c.1852T>C (p.Phe618Leu) c.1855T>C (p.Phe619Leu) c.1468T>C (p.Phe490Leu) c.1492T>C (p.Phe498Leu) c.1699T>C (p.Phe567Leu) c.*1625T>C (n.*1625T>C) c.1702T>C (p.Phe568Leu) c.373T>C (p.Phe125Leu) c.592T>C (p.Phe198Leu) c.*1622T>C (n.*1622T>C) n.2230T>C n.810T>C n.2706T>C n.820T>C c.*1094T>C (n.*1094T>C) n.2731T>C n.919T>C c.1489T>C (p.Phe497Leu) | dbSNP |
| 9 | g.132905723A>T | CA375363125 | TSC1 | c.1852T>A (p.Phe618Ile) c.1855T>A (p.Phe619Ile) c.1468T>A (p.Phe490Ile) c.1492T>A (p.Phe498Ile) c.1699T>A (p.Phe567Ile) c.*1625T>A (n.*1625T>A) c.1702T>A (p.Phe568Ile) c.373T>A (p.Phe125Ile) c.592T>A (p.Phe198Ile) c.*1622T>A (n.*1622T>A) n.2230T>A n.810T>A n.2706T>A n.820T>A c.*1094T>A (n.*1094T>A) n.2731T>A n.919T>A c.1489T>A (p.Phe497Ile) | dbSNP |
| 9 | g.132905724A>C | CA375363126 | TSC1 | c.1851T>G (p.His617Gln) c.1854T>G (p.His618Gln) c.1467T>G (p.His489Gln) c.1491T>G (p.His497Gln) c.1698T>G (p.His566Gln) c.*1624T>G (n.*1624T>G) c.1701T>G (p.His567Gln) c.372T>G (p.His124Gln) c.591T>G (p.His197Gln) c.*1621T>G (n.*1621T>G) n.2229T>G n.809T>G n.2705T>G n.819T>G c.*1093T>G (n.*1093T>G) n.2730T>G n.918T>G c.1488T>G (p.His496Gln) | ClinVar dbSNP |
| 9 | g.132905724A>G | CA467813126 | TSC1 | c.1851T>C (p.His617=) c.1854T>C (p.His618=) c.1467T>C (p.His489=) c.1491T>C (p.His497=) c.1698T>C (p.His566=) c.*1624T>C (n.*1624T>C) c.1701T>C (p.His567=) c.372T>C (p.His124=) c.591T>C (p.His197=) c.*1621T>C (n.*1621T>C) n.2229T>C n.809T>C n.2705T>C n.819T>C c.*1093T>C (n.*1093T>C) n.2730T>C n.918T>C c.1488T>C (p.His496=) | ClinVar dbSNP |
| 9 | g.132905724A>T | CA375363128 | TSC1 | c.1851T>A (p.His617Gln) c.1854T>A (p.His618Gln) c.1467T>A (p.His489Gln) c.1491T>A (p.His497Gln) c.1698T>A (p.His566Gln) c.*1624T>A (n.*1624T>A) c.1701T>A (p.His567Gln) c.372T>A (p.His124Gln) c.591T>A (p.His197Gln) c.*1621T>A (n.*1621T>A) n.2229T>A n.809T>A n.2705T>A n.819T>A c.*1093T>A (n.*1093T>A) n.2730T>A n.918T>A c.1488T>A (p.His496Gln) | dbSNP |
| 9 | g.132905725T>A | CA375363130 | TSC1 | c.1850A>T (p.His617Leu) c.1853A>T (p.His618Leu) c.1466A>T (p.His489Leu) c.1490A>T (p.His497Leu) c.1697A>T (p.His566Leu) c.*1623A>T (n.*1623A>T) c.1700A>T (p.His567Leu) c.371A>T (p.His124Leu) c.590A>T (p.His197Leu) c.*1620A>T (n.*1620A>T) n.2228A>T n.808A>T n.2704A>T n.818A>T c.*1092A>T (n.*1092A>T) n.2729A>T n.917A>T c.1487A>T (p.His496Leu) | dbSNP |
| 9 | g.132905725T>C | CA375363132 | TSC1 | c.1850A>G (p.His617Arg) c.1853A>G (p.His618Arg) c.1466A>G (p.His489Arg) c.1490A>G (p.His497Arg) c.1697A>G (p.His566Arg) c.*1623A>G (n.*1623A>G) c.1700A>G (p.His567Arg) c.371A>G (p.His124Arg) c.590A>G (p.His197Arg) c.*1620A>G (n.*1620A>G) n.2228A>G n.808A>G n.2704A>G n.818A>G c.*1092A>G (n.*1092A>G) n.2729A>G n.917A>G c.1487A>G (p.His496Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905725T>G | CA375363134 | TSC1 | c.1850A>C (p.His617Pro) c.1853A>C (p.His618Pro) c.1466A>C (p.His489Pro) c.1490A>C (p.His497Pro) c.1697A>C (p.His566Pro) c.*1623A>C (n.*1623A>C) c.1700A>C (p.His567Pro) c.371A>C (p.His124Pro) c.590A>C (p.His197Pro) c.*1620A>C (n.*1620A>C) n.2228A>C n.808A>C n.2704A>C n.818A>C c.*1092A>C (n.*1092A>C) n.2729A>C n.917A>C c.1487A>C (p.His496Pro) | dbSNP |
| 9 | g.132905726G>A | CA375363137 | TSC1 | c.1849C>T (p.His617Tyr) c.1852C>T (p.His618Tyr) c.1465C>T (p.His489Tyr) c.1489C>T (p.His497Tyr) c.1696C>T (p.His566Tyr) c.*1622C>T (n.*1622C>T) c.1699C>T (p.His567Tyr) c.370C>T (p.His124Tyr) c.589C>T (p.His197Tyr) c.*1619C>T (n.*1619C>T) n.2227C>T n.807C>T n.2703C>T n.817C>T c.*1091C>T (n.*1091C>T) n.2728C>T n.916C>T c.1486C>T (p.His496Tyr) | ClinVar dbSNP |
| 9 | g.132905726G>C | CA375363139 | TSC1 | c.1849C>G (p.His617Asp) c.1852C>G (p.His618Asp) c.1465C>G (p.His489Asp) c.1489C>G (p.His497Asp) c.1696C>G (p.His566Asp) c.*1622C>G (n.*1622C>G) c.1699C>G (p.His567Asp) c.370C>G (p.His124Asp) c.589C>G (p.His197Asp) c.*1619C>G (n.*1619C>G) n.2227C>G n.807C>G n.2703C>G n.817C>G c.*1091C>G (n.*1091C>G) n.2728C>G n.916C>G c.1486C>G (p.His496Asp) | ClinVar dbSNP |
| 9 | g.132905726G= | CA1882413739 | TSC1 | c.1849C= (p.His617=) c.1852C= (p.His618=) c.1465C= (p.His489=) c.1489C= (p.His497=) c.1696C= (p.His566=) c.*1622C= (n.*1622C=) c.1699C= (p.His567=) c.370C= (p.His124=) c.589C= (p.His197=) c.*1619C= (n.*1619C=) n.2227C= n.807C= n.2703C= n.817C= c.*1091C= (n.*1091C=) n.2728C= n.916C= c.1486C= (p.His496=) | |
| 9 | g.132905726G>T | CA375363140 | TSC1 | c.1849C>A (p.His617Asn) c.1852C>A (p.His618Asn) c.1465C>A (p.His489Asn) c.1489C>A (p.His497Asn) c.1696C>A (p.His566Asn) c.*1622C>A (n.*1622C>A) c.1699C>A (p.His567Asn) c.370C>A (p.His124Asn) c.589C>A (p.His197Asn) c.*1619C>A (n.*1619C>A) n.2227C>A n.807C>A n.2703C>A n.817C>A c.*1091C>A (n.*1091C>A) n.2728C>A n.916C>A c.1486C>A (p.His496Asn) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905726_132905727delinsGA | CA1882413738 | TSC1 | c.1848_1849delinsTC (p.His616=) c.1851_1852delinsTC (p.His617=) c.1464_1465delinsTC (p.His488=) c.1488_1489delinsTC (p.His496=) c.1695_1696delinsTC (p.His565=) c.*1621_*1622delinsTC (n.*1621_*1622delinsTC) c.1698_1699delinsTC (p.His566=) c.369_370delinsTC (p.His123=) c.588_589delinsTC (p.His196=) c.*1618_*1619delinsTC (n.*1618_*1619delinsTC) n.2226_2227delinsTC n.806_807delinsTC n.2702_2703delinsTC n.816_817delinsTC c.*1090_*1091delinsTC (n.*1090_*1091delinsTC) n.2727_2728delinsTC n.915_916delinsTC c.1485_1486delinsTC (p.His495=) | |
| 9 | g.132905727_132905730dup | CA2573144275 | TSC1 | c.1846_1849dup (p.His617ProfsTer9) c.1849_1852dup (p.His618ProfsTer9) c.1462_1465dup (p.His489ProfsTer9) c.1486_1489dup (p.His497ProfsTer9) c.1693_1696dup (p.His566ProfsTer9) c.*1619_*1622dup (n.*1619_*1622dup) c.1696_1699dup (p.His567ProfsTer9) c.367_370dup (p.His124ProfsTer9) c.586_589dup (p.His197ProfsTer9) c.*1616_*1619dup (n.*1616_*1619dup) n.2224_2227dup n.804_807dup n.2700_2703dup n.814_817dup c.*1088_*1091dup (n.*1088_*1091dup) n.2725_2728dup n.913_916dup c.1483_1486dup (p.His496ProfsTer9) | ClinVar dbSNP |
| 9 | g.132905727del | CA005486 | TSC1 | c.1848del (p.His617IlefsTer11) c.1851del (p.His618IlefsTer11) c.1464del (p.His489IlefsTer11) c.1488del (p.His497IlefsTer11) c.1695del (p.His566IlefsTer11) c.*1621del (n.*1621del) c.1698del (p.His567IlefsTer11) c.369del (p.His124IlefsTer11) c.588del (p.His197IlefsTer11) c.*1618del (n.*1618del) n.2226del n.806del n.2702del n.816del c.*1090del (n.*1090del) n.2727del n.915del c.1485del (p.His496IlefsTer11) | ClinVar dbSNP |
| 9 | g.132905727A>C | CA375363144 | TSC1 | c.1848T>G (p.His616Gln) c.1851T>G (p.His617Gln) c.1464T>G (p.His488Gln) c.1488T>G (p.His496Gln) c.1695T>G (p.His565Gln) c.*1621T>G (n.*1621T>G) c.1698T>G (p.His566Gln) c.369T>G (p.His123Gln) c.588T>G (p.His196Gln) c.*1618T>G (n.*1618T>G) n.2226T>G n.806T>G n.2702T>G n.816T>G c.*1090T>G (n.*1090T>G) n.2727T>G n.915T>G c.1485T>G (p.His495Gln) | |
| 9 | g.132905727A>G | CA467813127 | TSC1 | c.1848T>C (p.His616=) c.1851T>C (p.His617=) c.1464T>C (p.His488=) c.1488T>C (p.His496=) c.1695T>C (p.His565=) c.*1621T>C (n.*1621T>C) c.1698T>C (p.His566=) c.369T>C (p.His123=) c.588T>C (p.His196=) c.*1618T>C (n.*1618T>C) n.2226T>C n.806T>C n.2702T>C n.816T>C c.*1090T>C (n.*1090T>C) n.2727T>C n.915T>C c.1485T>C (p.His495=) | ClinVar dbSNP |
| 9 | g.132905727A>T | CA375363142 | TSC1 | c.1848T>A (p.His616Gln) c.1851T>A (p.His617Gln) c.1464T>A (p.His488Gln) c.1488T>A (p.His496Gln) c.1695T>A (p.His565Gln) c.*1621T>A (n.*1621T>A) c.1698T>A (p.His566Gln) c.369T>A (p.His123Gln) c.588T>A (p.His196Gln) c.*1618T>A (n.*1618T>A) n.2226T>A n.806T>A n.2702T>A n.816T>A c.*1090T>A (n.*1090T>A) n.2727T>A n.915T>A c.1485T>A (p.His495Gln) | dbSNP |
| 9 | g.132905728T>A | CA375363146 | TSC1 | c.1847A>T (p.His616Leu) c.1850A>T (p.His617Leu) c.1463A>T (p.His488Leu) c.1487A>T (p.His496Leu) c.1694A>T (p.His565Leu) c.*1620A>T (n.*1620A>T) c.1697A>T (p.His566Leu) c.368A>T (p.His123Leu) c.587A>T (p.His196Leu) c.*1617A>T (n.*1617A>T) n.2225A>T n.805A>T n.2701A>T n.815A>T c.*1089A>T (n.*1089A>T) n.2726A>T n.914A>T c.1484A>T (p.His495Leu) | |
| 9 | g.132905728T>C | CA375363147 | TSC1 | c.1847A>G (p.His616Arg) c.1850A>G (p.His617Arg) c.1463A>G (p.His488Arg) c.1487A>G (p.His496Arg) c.1694A>G (p.His565Arg) c.*1620A>G (n.*1620A>G) c.1697A>G (p.His566Arg) c.368A>G (p.His123Arg) c.587A>G (p.His196Arg) c.*1617A>G (n.*1617A>G) n.2225A>G n.805A>G n.2701A>G n.815A>G c.*1089A>G (n.*1089A>G) n.2726A>G n.914A>G c.1484A>G (p.His495Arg) | |
| 9 | g.132905728T>G | CA375363149 | TSC1 | c.1847A>C (p.His616Pro) c.1850A>C (p.His617Pro) c.1463A>C (p.His488Pro) c.1487A>C (p.His496Pro) c.1694A>C (p.His565Pro) c.*1620A>C (n.*1620A>C) c.1697A>C (p.His566Pro) c.368A>C (p.His123Pro) c.587A>C (p.His196Pro) c.*1617A>C (n.*1617A>C) n.2225A>C n.805A>C n.2701A>C n.815A>C c.*1089A>C (n.*1089A>C) n.2726A>C n.914A>C c.1484A>C (p.His495Pro) | |
| 9 | g.132905728_132905729delinsTG | CA1882413746 | TSC1 | c.1846_1847delinsCA (p.His616=) c.1849_1850delinsCA (p.His617=) c.1462_1463delinsCA (p.His488=) c.1486_1487delinsCA (p.His496=) c.1693_1694delinsCA (p.His565=) c.*1619_*1620delinsCA (n.*1619_*1620delinsCA) c.1696_1697delinsCA (p.His566=) c.367_368delinsCA (p.His123=) c.586_587delinsCA (p.His196=) c.*1616_*1617delinsCA (n.*1616_*1617delinsCA) n.2224_2225delinsCA n.804_805delinsCA n.2700_2701delinsCA n.814_815delinsCA c.*1088_*1089delinsCA (n.*1088_*1089delinsCA) n.2725_2726delinsCA n.913_914delinsCA c.1483_1484delinsCA (p.His495=) | |
| 9 | g.132905729G>A | CA375363151 | TSC1 | c.1846C>T (p.His616Tyr) c.1849C>T (p.His617Tyr) c.1462C>T (p.His488Tyr) c.1486C>T (p.His496Tyr) c.1693C>T (p.His565Tyr) c.*1619C>T (n.*1619C>T) c.1696C>T (p.His566Tyr) c.367C>T (p.His123Tyr) c.586C>T (p.His196Tyr) c.*1616C>T (n.*1616C>T) n.2224C>T n.804C>T n.2700C>T n.814C>T c.*1088C>T (n.*1088C>T) n.2725C>T n.913C>T c.1483C>T (p.His495Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905729G>C | CA005479 | TSC1 | c.1846C>G (p.His616Asp) c.1849C>G (p.His617Asp) c.1462C>G (p.His488Asp) c.1486C>G (p.His496Asp) c.1693C>G (p.His565Asp) c.*1619C>G (n.*1619C>G) c.1696C>G (p.His566Asp) c.367C>G (p.His123Asp) c.586C>G (p.His196Asp) c.*1616C>G (n.*1616C>G) n.2224C>G n.804C>G n.2700C>G n.814C>G c.*1088C>G (n.*1088C>G) n.2725C>G n.913C>G c.1483C>G (p.His495Asp) | ClinVar dbSNP gnomAD v2 COSMIC |
| 9 | g.132905729G= | CA1882413751 | TSC1 | c.1846C= (p.His616=) c.1849C= (p.His617=) c.1462C= (p.His488=) c.1486C= (p.His496=) c.1693C= (p.His565=) c.*1619C= (n.*1619C=) c.1696C= (p.His566=) c.367C= (p.His123=) c.586C= (p.His196=) c.*1616C= (n.*1616C=) n.2224C= n.804C= n.2700C= n.814C= c.*1088C= (n.*1088C=) n.2725C= n.913C= c.1483C= (p.His495=) |