Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135789641_135789652dupCA2577107653LCTc.5484_5495dup (p.Ala1832_Ser1833insLysPheTyrAla)
gnomAD v4
2g.135789644G>ACA429085042LCTc.5490C>T (p.Phe1830=)
2g.135789644G>CCA348586246LCTc.5490C>G (p.Phe1830Leu)
2g.135789644G>TCA348586244LCTc.5490C>A (p.Phe1830Leu)
2g.135789645A>CCA348586250LCTc.5489T>G (p.Phe1830Cys)
2g.135789645A>GCA348586253LCTc.5489T>C (p.Phe1830Ser)
2g.135789645A>TCA348586251LCTc.5489T>A (p.Phe1830Tyr)
2g.135789646A>CCA348586256LCTc.5488T>G (p.Phe1830Val)
2g.135789646A>GCA348586259LCTc.5488T>C (p.Phe1830Leu)
2g.135789646A>TCA348586261LCTc.5488T>A (p.Phe1830Ile)
2g.135789647C>ACA348586265LCTc.5487G>T (p.Lys1829Asn)
COSMIC
2g.135789647C>GCA348586267LCTc.5487G>C (p.Lys1829Asn)
2g.135789647C>TCA429085046LCTc.5487G>A (p.Lys1829=)
2g.135789648T>ACA348586270LCTc.5486A>T (p.Lys1829Met)
2g.135789648T>CCA1887608LCTc.5486A>G (p.Lys1829Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789648T>GCA348586275LCTc.5486A>C (p.Lys1829Thr)
2g.135789648T=CA1290822679LCTc.5486A= (p.Lys1829=)
2g.135789649T>ACA348586278LCTc.5485A>T (p.Lys1829Ter)
2g.135789649T>CCA348586280LCTc.5485A>G (p.Lys1829Glu)
2g.135789649T>GCA348586283LCTc.5485A>C (p.Lys1829Gln)
2g.135789650C>ACA429085051LCTc.5484G>T (p.Ala1828=)
2g.135789650C=CA1290822680LCTc.5484G= (p.Ala1828=)
2g.135789650C>GCA429085052LCTc.5484G>C (p.Ala1828=)
2g.135789650C>TCA1887609LCTc.5484G>A (p.Ala1828=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135789651G>ACA1887610LCTc.5483C>T (p.Ala1828Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789651G>CCA348586292LCTc.5483C>G (p.Ala1828Gly)
2g.135789651G=CA1290822681LCTc.5483C= (p.Ala1828=)
2g.135789651G>TCA348586289LCTc.5483C>A (p.Ala1828Glu)
2g.135789652C>ACA348586297LCTc.5482G>T (p.Ala1828Ser)
2g.135789652C=CA1290822682LCTc.5482G= (p.Ala1828=)
2g.135789652C>GCA348586300LCTc.5482G>C (p.Ala1828Pro)
2g.135789652C>TCA1887611LCTc.5482G>A (p.Ala1828Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789653T>ACA429085055LCTc.5481A>T (p.Ser1827=)
2g.135789653T>CCA429085056LCTc.5481A>G (p.Ser1827=)
2g.135789653T>GCA429085058LCTc.5481A>C (p.Ser1827=)
2g.135789654G>ACA348586306LCTc.5480C>T (p.Ser1827Leu)
2g.135789654G>CCA348586308LCTc.5480C>G (p.Ser1827Ter)
2g.135789654G>TCA348586310LCTc.5480C>A (p.Ser1827Ter)
2g.135789655A>CCA348586314LCTc.5479T>G (p.Ser1827Ala)
2g.135789655A>GCA348586317LCTc.5479T>C (p.Ser1827Pro)
2g.135789655A>TCA348586319LCTc.5479T>A (p.Ser1827Thr)
2g.135789656T>ACA429085059LCTc.5478A>T (p.Ala1826=)
2g.135789656T>CCA56595009LCTc.5478A>G (p.Ala1826=)
dbSNP gnomAD v4
2g.135789656T>GCA429085060LCTc.5478A>C (p.Ala1826=)
2g.135789656T=CA1290822683LCTc.5478A= (p.Ala1826=)
2g.135789657G>ACA348586321LCTc.5477C>T (p.Ala1826Val)
2g.135789657G>CCA348586324LCTc.5477C>G (p.Ala1826Gly)
2g.135789657G>TCA348586326LCTc.5477C>A (p.Ala1826Glu)
2g.135789658delCA2661273565LCTc.5476del (p.Ala1826HisfsTer?)
gnomAD v4
2g.135789658C>ACA348586336LCTc.5476G>T (p.Ala1826Ser)
2g.135789658C>GCA348586333LCTc.5476G>C (p.Ala1826Pro)
2g.135789658C>TCA348586331LCTc.5476G>A (p.Ala1826Thr)
2g.135789659T>ACA348586340LCTc.5475A>T (p.Lys1825Asn)
2g.135789659T>CCA429085061LCTc.5475A>G (p.Lys1825=)
2g.135789659T>GCA348586342LCTc.5475A>C (p.Lys1825Asn)
2g.135789660T>ACA348586344LCTc.5474A>T (p.Lys1825Ile)
2g.135789660T>CCA348586347LCTc.5474A>G (p.Lys1825Arg)
2g.135789660T>GCA348586349LCTc.5474A>C (p.Lys1825Thr)
2g.135789661T>ACA348586354LCTc.5473A>T (p.Lys1825Ter)
2g.135789661T>CCA348586356LCTc.5473A>G (p.Lys1825Glu)
gnomAD v4
2g.135789661T>GCA348586359LCTc.5473A>C (p.Lys1825Gln)
2g.135789662G>ACA429085064LCTc.5472C>T (p.Pro1824=)
2g.135789662G>CCA429085065LCTc.5472C>G (p.Pro1824=)
2g.135789662G>TCA429085066LCTc.5472C>A (p.Pro1824=)
gnomAD v4
2g.135789663G>ACA348586363LCTc.5471C>T (p.Pro1824Leu)
2g.135789663G>CCA348586365LCTc.5471C>G (p.Pro1824Arg)
2g.135789663G>TCA348586367LCTc.5471C>A (p.Pro1824His)
2g.135789664G>ACA348586370LCTc.5470C>T (p.Pro1824Ser)
2g.135789664G>CCA348586372LCTc.5470C>G (p.Pro1824Ala)
2g.135789664G>TCA348586374LCTc.5470C>A (p.Pro1824Thr)
2g.135789665G>ACA429085067LCTc.5469C>T (p.Ile1823=)
gnomAD v4
2g.135789665G>CCA348586377LCTc.5469C>G (p.Ile1823Met)
2g.135789665G>TCA429085068LCTc.5469C>A (p.Ile1823=)
COSMIC
2g.135789666A>CCA348586380LCTc.5468T>G (p.Ile1823Ser)
2g.135789666A>GCA348586382LCTc.5468T>C (p.Ile1823Thr)
2g.135789666A>TCA348586386LCTc.5468T>A (p.Ile1823Asn)
2g.135789667T>ACA348586389LCTc.5467A>T (p.Ile1823Phe)
2g.135789667T>CCA348586392LCTc.5467A>G (p.Ile1823Val)
dbSNP
2g.135789667T>GCA348586393LCTc.5467A>C (p.Ile1823Leu)
2g.135789667T=CA1290822684LCTc.5467A= (p.Ile1823=)
2g.135789668C>ACA348586397LCTc.5466G>T (p.Arg1822Ser)
2g.135789668C=CA1290822685LCTc.5466G= (p.Arg1822=)
2g.135789668C>GCA348586400LCTc.5466G>C (p.Arg1822Ser)
2g.135789668C>TCA56595012LCTc.5466G>A (p.Arg1822=)
dbSNP
2g.135789669C>ACA348586404LCTc.5465G>T (p.Arg1822Met)
2g.135789669C>GCA348586407LCTc.5465G>C (p.Arg1822Thr)
2g.135789669C>TCA348586410LCTc.5465G>A (p.Arg1822Lys)
2g.135789670T>ACA348586412LCTc.5464A>T (p.Arg1822Trp)
2g.135789670T>CCA348586414LCTc.5464A>G (p.Arg1822Gly)
COSMIC
2g.135789670T>GCA429085069LCTc.5464A>C (p.Arg1822=)
2g.135789671T>ACA429085070LCTc.5463A>T (p.Pro1821=)
2g.135789671T>CCA429085071LCTc.5463A>G (p.Pro1821=)
2g.135789671T>GCA429085072LCTc.5463A>C (p.Pro1821=)
2g.135789672G>ACA348586420LCTc.5462C>T (p.Pro1821Leu)
2g.135789672G>CCA348586423LCTc.5462C>G (p.Pro1821Arg)
2g.135789672G>TCA348586418LCTc.5462C>A (p.Pro1821Gln)
2g.135789673G>ACA348586426LCTc.5461C>T (p.Pro1821Ser)
gnomAD v4
2g.135789673G>CCA348586428LCTc.5461C>G (p.Pro1821Ala)
2g.135789673G>TCA348586427LCTc.5461C>A (p.Pro1821Thr)
2g.135789674C>ACA429085073LCTc.5460G>T (p.Leu1820=)
2g.135789674C=CA1290822686LCTc.5460G= (p.Leu1820=)
2g.135789674C>GCA429085074LCTc.5460G>C (p.Leu1820=)
2g.135789674C>TCA1887612LCTc.5460G>A (p.Leu1820=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789675A>CCA348586430LCTc.5459T>G (p.Leu1820Arg)
ClinVar
2g.135789675A>GCA348586429LCTc.5459T>C (p.Leu1820Pro)
2g.135789675A>TCA348586431LCTc.5459T>A (p.Leu1820Gln)
2g.135789676G>ACA429085075LCTc.5458C>T (p.Leu1820=)
2g.135789676G>CCA348586432LCTc.5458C>G (p.Leu1820Val)
2g.135789676G>TCA348586433LCTc.5458C>A (p.Leu1820Met)
2g.135789677A>CCA429085076LCTc.5457T>G (p.Ser1819=)
2g.135789677A>GCA429085077LCTc.5457T>C (p.Ser1819=)
2g.135789677A>TCA429085078LCTc.5457T>A (p.Ser1819=)
2g.135789678G>ACA348586434LCTc.5456C>T (p.Ser1819Phe)
dbSNP gnomAD v2 gnomAD v4
2g.135789678G>CCA348586435LCTc.5456C>G (p.Ser1819Cys)
2g.135789678G=CA1290822687LCTc.5456C= (p.Ser1819=)
2g.135789678G>TCA348586436LCTc.5456C>A (p.Ser1819Tyr)
2g.135789679A>CCA348586437LCTc.5455T>G (p.Ser1819Ala)
2g.135789679A>GCA348586438LCTc.5455T>C (p.Ser1819Pro)
2g.135789679A>TCA348586439LCTc.5455T>A (p.Ser1819Thr)
2g.135789680A=CA1290822688LCTc.5454T= (p.Pro1818=)
2g.135789680A>CCA429085079LCTc.5454T>G (p.Pro1818=)
2g.135789680A>GCA56595046LCTc.5454T>C (p.Pro1818=)
dbSNP gnomAD v2 gnomAD v4
2g.135789680A>TCA429085080LCTc.5454T>A (p.Pro1818=)
2g.135789681G>ACA348586440LCTc.5453C>T (p.Pro1818Leu)
2g.135789681G>CCA348586441LCTc.5453C>G (p.Pro1818Arg)
COSMIC
2g.135789681G>TCA348586442LCTc.5453C>A (p.Pro1818His)
dbSNP
2g.135789682G>ACA348586445LCTc.5452C>T (p.Pro1818Ser)
dbSNP gnomAD v3 gnomAD v4
2g.135789682G>CCA348586443LCTc.5452C>G (p.Pro1818Ala)
2g.135789682G=CA1290822689LCTc.5452C= (p.Pro1818=)
2g.135789682G>TCA348586444LCTc.5452C>A (p.Pro1818Thr)
2g.135789683G>ACA429085081LCTc.5451C>T (p.Asp1817=)
2g.135789683G>CCA348586446LCTc.5451C>G (p.Asp1817Glu)
dbSNP
2g.135789683G=CA1290822690LCTc.5451C= (p.Asp1817=)
2g.135789683G>TCA348586447LCTc.5451C>A (p.Asp1817Glu)
dbSNP
2g.135789684T>ACA348586448LCTc.5450A>T (p.Asp1817Val)
2g.135789684T>CCA348586449LCTc.5450A>G (p.Asp1817Gly)
2g.135789684T>GCA348586450LCTc.5450A>C (p.Asp1817Ala)
2g.135789685C>ACA348586451LCTc.5449G>T (p.Asp1817Tyr)
2g.135789685C>GCA348586452LCTc.5449G>C (p.Asp1817His)
gnomAD v4
2g.135789685C>TCA348586453LCTc.5449G>A (p.Asp1817Asn)
2g.135789686A>CCA348586454LCTc.5448T>G (p.Ser1816Arg)
ClinVar dbSNP
2g.135789686A>GCA429085082LCTc.5448T>C (p.Ser1816=)
2g.135789686A>TCA348586455LCTc.5448T>A (p.Ser1816Arg)
2g.135789687C>ACA348586457LCTc.5447G>T (p.Ser1816Ile)
2g.135789687C=CA1290822691LCTc.5447G= (p.Ser1816=)
2g.135789687C>GCA1887613LCTc.5447G>C (p.Ser1816Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789687C>TCA348586456LCTc.5447G>A (p.Ser1816Asn)
gnomAD v4
2g.135789688T>ACA348586458LCTc.5446A>T (p.Ser1816Cys)
2g.135789688T>CCA348586459LCTc.5446A>G (p.Ser1816Gly)
gnomAD v4
2g.135789688T>GCA348586460LCTc.5446A>C (p.Ser1816Arg)
2g.135789689G>ACA429085083LCTc.5445C>T (p.Tyr1815=)
2g.135789689G>CCA348586461LCTc.5445C>G (p.Tyr1815Ter)
2g.135789689G>TCA348586462LCTc.5445C>A (p.Tyr1815Ter)
2g.135789690T>ACA348586463LCTc.5444A>T (p.Tyr1815Phe)
2g.135789690T>CCA348586464LCTc.5444A>G (p.Tyr1815Cys)
gnomAD v4
2g.135789690T>GCA348586465LCTc.5444A>C (p.Tyr1815Ser)
2g.135789691A>CCA348586466LCTc.5443T>G (p.Tyr1815Asp)
2g.135789691A>GCA348586467LCTc.5443T>C (p.Tyr1815His)
2g.135789691A>TCA348586468LCTc.5443T>A (p.Tyr1815Asn)
2g.135789692G>ACA429085084LCTc.5442C>T (p.Asn1814=)
2g.135789692G>CCA348586469LCTc.5442C>G (p.Asn1814Lys)
2g.135789692G>TCA348586470LCTc.5442C>A (p.Asn1814Lys)
2g.135789693T>ACA348586471LCTc.5441A>T (p.Asn1814Ile)
2g.135789693T>CCA348586473LCTc.5441A>G (p.Asn1814Ser)
2g.135789693T>GCA348586472LCTc.5441A>C (p.Asn1814Thr)
2g.135789694T>ACA348586474LCTc.5440A>T (p.Asn1814Tyr)
2g.135789694T>CCA348586475LCTc.5440A>G (p.Asn1814Asp)
gnomAD v4
2g.135789694T>GCA348586476LCTc.5440A>C (p.Asn1814His)
2g.135789695C>ACA429085085LCTc.5439G>T (p.Val1813=)
2g.135789695C=CA1290822692LCTc.5439G= (p.Val1813=)
2g.135789695C>GCA429085087LCTc.5439G>C (p.Val1813=)
dbSNP gnomAD v2 gnomAD v4
2g.135789695C>TCA429085086LCTc.5439G>A (p.Val1813=)
2g.135789696A>CCA348586477LCTc.5438T>G (p.Val1813Gly)
2g.135789696A>GCA348586478LCTc.5438T>C (p.Val1813Ala)
2g.135789696A>TCA348586479LCTc.5438T>A (p.Val1813Glu)
2g.135789697C>ACA348586480LCTc.5437G>T (p.Val1813Leu)
2g.135789697C>GCA348586481LCTc.5437G>C (p.Val1813Leu)
2g.135789697C>TCA348586482LCTc.5437G>A (p.Val1813Met)
2g.135789698A>CCA348586483LCTc.5436T>G (p.Phe1812Leu)
2g.135789698A>GCA429085088LCTc.5436T>C (p.Phe1812=)
gnomAD v4
2g.135789698A>TCA348586484LCTc.5436T>A (p.Phe1812Leu)
2g.135789699A>CCA348586486LCTc.5435T>G (p.Phe1812Cys)
2g.135789699A>GCA348586489LCTc.5435T>C (p.Phe1812Ser)
2g.135789699A>TCA348586485LCTc.5435T>A (p.Phe1812Tyr)
2g.135789700A=CA1290822693LCTc.5434T= (p.Phe1812=)
2g.135789700A>CCA348586498LCTc.5434T>G (p.Phe1812Val)
2g.135789700A>GCA348586493LCTc.5434T>C (p.Phe1812Leu)
dbSNP gnomAD v3 gnomAD v4
2g.135789700A>TCA56595050LCTc.5434T>A (p.Phe1812Ile)
dbSNP
2g.135789701A=CA1290822694LCTc.5433T= (p.His1811=)
2g.135789701A>CCA1887614LCTc.5433T>G (p.His1811Gln)
dbSNP ExAC gnomAD v2
2g.135789701A>GCA56595063LCTc.5433T>C (p.His1811=)
dbSNP gnomAD v2 gnomAD v4
2g.135789701A>TCA348586500LCTc.5433T>A (p.His1811Gln)
2g.135789702T>ACA348586502LCTc.5432A>T (p.His1811Leu)
2g.135789702T>CCA348586504LCTc.5432A>G (p.His1811Arg)
gnomAD v4
2g.135789702T>GCA348586505LCTc.5432A>C (p.His1811Pro)
2g.135789703G>ACA348586506LCTc.5431C>T (p.His1811Tyr)
gnomAD v4
2g.135789703G>CCA348586507LCTc.5431C>G (p.His1811Asp)
2g.135789703G>TCA348586509LCTc.5431C>A (p.His1811Asn)
2g.135789704C>ACA429085093LCTc.5430G>T (p.Leu1810=)
2g.135789704C=CA1290822695LCTc.5430G= (p.Leu1810=)
2g.135789704C>GCA429085092LCTc.5430G>C (p.Leu1810=)
2g.135789704C>TCA1887615LCTc.5430G>A (p.Leu1810=)
dbSNP ExAC gnomAD v2
2g.135789705A>CCA348586514LCTc.5429T>G (p.Leu1810Arg)
2g.135789705A>GCA348586512LCTc.5429T>C (p.Leu1810Pro)
2g.135789705A>TCA348586511LCTc.5429T>A (p.Leu1810Gln)
2g.135789706G>ACA429085094LCTc.5428C>T (p.Leu1810=)
dbSNP
2g.135789706G>CCA348586518LCTc.5428C>G (p.Leu1810Val)
2g.135789706G=CA1290822696LCTc.5428C= (p.Leu1810=)
2g.135789706G>TCA348586519LCTc.5428C>A (p.Leu1810Met)
2g.135789707A>CCA429085095LCTc.5427T>G (p.Gly1809=)
2g.135789707A>GCA429085096LCTc.5427T>C (p.Gly1809=)
2g.135789707A>TCA429085097LCTc.5427T>A (p.Gly1809=)
2g.135789708C>ACA348586520LCTc.5426G>T (p.Gly1809Val)
2g.135789708C>GCA348586522LCTc.5426G>C (p.Gly1809Ala)
2g.135789708C>TCA348586525LCTc.5426G>A (p.Gly1809Asp)
gnomAD v4
2g.135789709C>ACA348586528LCTc.5425G>T (p.Gly1809Cys)
2g.135789709C>GCA348586529LCTc.5425G>C (p.Gly1809Arg)
2g.135789709C>TCA348586530LCTc.5425G>A (p.Gly1809Ser)
gnomAD v4
2g.135789710A>CCA348586533LCTc.5424T>G (p.Phe1808Leu)
2g.135789710A>GCA429085099LCTc.5424T>C (p.Phe1808=)
2g.135789710A>TCA348586535LCTc.5424T>A (p.Phe1808Leu)
2g.135789711A>CCA348586537LCTc.5423T>G (p.Phe1808Cys)
COSMIC
2g.135789711A>GCA348586538LCTc.5423T>C (p.Phe1808Ser)
2g.135789711A>TCA348586539LCTc.5423T>A (p.Phe1808Tyr)
2g.135789712A>CCA348586552LCTc.5422T>G (p.Phe1808Val)
2g.135789712A>GCA348586555LCTc.5422T>C (p.Phe1808Leu)
2g.135789712A>TCA348586542LCTc.5422T>A (p.Phe1808Ile)
2g.135789713T>ACA348586556LCTc.5421A>T (p.Arg1807Ser)
2g.135789713T>CCA429085100LCTc.5421A>G (p.Arg1807=)
2g.135789713T>GCA348586557LCTc.5421A>C (p.Arg1807Ser)
2g.135789714C>ACA348586560LCTc.5420G>T (p.Arg1807Ile)
gnomAD v4
2g.135789714C>GCA348586564LCTc.5420G>C (p.Arg1807Thr)
2g.135789714C>TCA348586575LCTc.5420G>A (p.Arg1807Lys)
gnomAD v4
2g.135789715T>ACA348586580LCTc.5419A>T (p.Arg1807Ter)
2g.135789715T>CCA348586594LCTc.5419A>G (p.Arg1807Gly)
2g.135789715T>GCA429085102LCTc.5419A>C (p.Arg1807=)
2g.135789716C>ACA348586597LCTc.5418G>T (p.Glu1806Asp)
2g.135789716C>GCA348586600LCTc.5418G>C (p.Glu1806Asp)
2g.135789716C>TCA429085103LCTc.5418G>A (p.Glu1806=)
COSMIC
2g.135789717T>ACA348586603LCTc.5417A>T (p.Glu1806Val)
2g.135789717T>CCA348586606LCTc.5417A>G (p.Glu1806Gly)
gnomAD v4
2g.135789717T>GCA348586611LCTc.5417A>C (p.Glu1806Ala)
2g.135789718C>ACA348586620LCTc.5416G>T (p.Glu1806Ter)
2g.135789718C>GCA348586625LCTc.5416G>C (p.Glu1806Gln)
2g.135789718C>TCA348586616LCTc.5416G>A (p.Glu1806Lys)
2g.135789719T>ACA429085105LCTc.5415A>T (p.Ser1805=)
2g.135789719T>CCA429085108LCTc.5415A>G (p.Ser1805=)
dbSNP gnomAD v4
2g.135789719T>GCA429085107LCTc.5415A>C (p.Ser1805=)
2g.135789720G>ACA348586629LCTc.5414C>T (p.Ser1805Leu)
2g.135789720G>CCA348586639LCTc.5414C>G (p.Ser1805Ter)
2g.135789720G>TCA348586641LCTc.5414C>A (p.Ser1805Ter)
dbSNP
2g.135789721A>CCA348586646LCTc.5413T>G (p.Ser1805Ala)
2g.135789721A>GCA348586647LCTc.5413T>C (p.Ser1805Pro)
2g.135789721A>TCA348586651LCTc.5413T>A (p.Ser1805Thr)
2g.135789724delCA2661273566LCTc.5413del (p.Ser1805GlnfsTer9)
gnomAD v4
2g.135789722A>CCA348586654LCTc.5412T>G (p.Phe1804Leu)
2g.135789722A>GCA429085109LCTc.5412T>C (p.Phe1804=)
2g.135789722A>TCA348586653LCTc.5412T>A (p.Phe1804Leu)
2g.135789723A>CCA348586655LCTc.5411T>G (p.Phe1804Cys)
2g.135789723A>GCA348586657LCTc.5411T>C (p.Phe1804Ser)
2g.135789723A>TCA348586661LCTc.5411T>A (p.Phe1804Tyr)
2g.135789724A>CCA348586667LCTc.5410T>G (p.Phe1804Val)
2g.135789724A>GCA348586670LCTc.5410T>C (p.Phe1804Leu)
2g.135789724A>TCA348586673LCTc.5410T>A (p.Phe1804Ile)
2g.135789725G>ACA429085111LCTc.5409C>T (p.Gly1803=)
2g.135789725G>CCA429085112LCTc.5409C>G (p.Gly1803=)
2g.135789725G>TCA429085113LCTc.5409C>A (p.Gly1803=)
gnomAD v4
2g.135789726C>ACA348586688LCTc.5408G>T (p.Gly1803Val)
2g.135789726C=CA1290822697LCTc.5408G= (p.Gly1803=)
2g.135789726C>GCA1887616LCTc.5408G>C (p.Gly1803Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789726C>TCA348586679LCTc.5408G>A (p.Gly1803Asp)
2g.135789727C>ACA348586691LCTc.5407G>T (p.Gly1803Cys)
dbSNP gnomAD v4
2g.135789727C=CA1290822698LCTc.5407G= (p.Gly1803=)
2g.135789727C>GCA348586697LCTc.5407G>C (p.Gly1803Arg)
2g.135789727C>TCA348586694LCTc.5407G>A (p.Gly1803Ser)
2g.135789728T>ACA429085119LCTc.5406A>T (p.Thr1802=)
2g.135789728T>CCA429085120LCTc.5406A>G (p.Thr1802=)
dbSNP gnomAD v3 gnomAD v4
2g.135789728T>GCA429085118LCTc.5406A>C (p.Thr1802=)
2g.135789728T=CA1290822699LCTc.5406A= (p.Thr1802=)
2g.135789729G>ACA348586700LCTc.5405C>T (p.Thr1802Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789729G>CCA348586702LCTc.5405C>G (p.Thr1802Arg)
2g.135789729G=CA1290822700LCTc.5405C= (p.Thr1802=)
2g.135789729G>TCA348586701LCTc.5405C>A (p.Thr1802Lys)
2g.135789730T>ACA348586704LCTc.5404A>T (p.Thr1802Ser)
2g.135789730T>CCA1887617LCTc.5404A>G (p.Thr1802Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789730T>GCA348586715LCTc.5404A>C (p.Thr1802Pro)
2g.135789730T=CA1290822701LCTc.5404A= (p.Thr1802=)
2g.135789731G>ACA429085121LCTc.5403C>T (p.Ala1801=)
2g.135789731G>CCA429085122LCTc.5403C>G (p.Ala1801=)
2g.135789731G>TCA429085124LCTc.5403C>A (p.Ala1801=)
2g.135789732G>ACA348586719LCTc.5402C>T (p.Ala1801Val)
COSMIC
2g.135789732G>CCA348586722LCTc.5402C>G (p.Ala1801Gly)
2g.135789732G>TCA348586725LCTc.5402C>A (p.Ala1801Asp)
2g.135789733C>ACA348586728LCTc.5401G>T (p.Ala1801Ser)
2g.135789733C>GCA348586729LCTc.5401G>C (p.Ala1801Pro)
2g.135789733C>TCA348586730LCTc.5401G>A (p.Ala1801Thr)
2g.135789734_135789737dupCA2661273567LCTc.5398_5401dup (p.Ala1801ValfsTer18)
gnomAD v4
2g.135789734C>ACA348586731LCTc.5400G>T (p.Trp1800Cys)
2g.135789734C>GCA348586733LCTc.5400G>C (p.Trp1800Cys)
2g.135789734C>TCA348586735LCTc.5400G>A (p.Trp1800Ter)
2g.135789735C>ACA348586745LCTc.5399G>T (p.Trp1800Leu)
2g.135789735C>GCA348586738LCTc.5399G>C (p.Trp1800Ser)
2g.135789735C>TCA348586740LCTc.5399G>A (p.Trp1800Ter)
gnomAD v4
2g.135789736A>CCA348586748LCTc.5398T>G (p.Trp1800Gly)
2g.135789736A>GCA348586752LCTc.5398T>C (p.Trp1800Arg)
gnomAD v4
2g.135789736A>TCA348586754LCTc.5398T>A (p.Trp1800Arg)
2g.135789737C>ACA348586761LCTc.5397G>T (p.Glu1799Asp)
2g.135789737C>GCA348586763LCTc.5397G>C (p.Glu1799Asp)
2g.135789737C>TCA429085129LCTc.5397G>A (p.Glu1799=)
2g.135789738T>ACA348586768LCTc.5396A>T (p.Glu1799Val)
COSMIC
2g.135789738T>CCA348586772LCTc.5396A>G (p.Glu1799Gly)
2g.135789738T>GCA348586775LCTc.5396A>C (p.Glu1799Ala)
2g.135789739C>ACA348586779LCTc.5395G>T (p.Glu1799Ter)
2g.135789739C=CA1290822702LCTc.5395G= (p.Glu1799=)
2g.135789739C>GCA348586783LCTc.5395G>C (p.Glu1799Gln)
gnomAD v4
2g.135789739C>TCA56595076LCTc.5395G>A (p.Glu1799Lys)
dbSNP gnomAD v3 gnomAD v4
2g.135789740A=CA1290822703LCTc.5394T= (p.Phe1798=)
2g.135789740A>CCA348586792LCTc.5394T>G (p.Phe1798Leu)
2g.135789740A>GCA429085131LCTc.5394T>C (p.Phe1798=)
dbSNP gnomAD v3 gnomAD v4
2g.135789740A>TCA348586796LCTc.5394T>A (p.Phe1798Leu)
2g.135789741A=CA1290822704LCTc.5393T= (p.Phe1798=)
2g.135789741A>CCA348586801LCTc.5393T>G (p.Phe1798Cys)
2g.135789741A>GCA1887618LCTc.5393T>C (p.Phe1798Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789741A>TCA348586806LCTc.5393T>A (p.Phe1798Tyr)
dbSNP
2g.135789742A>CCA348586817LCTc.5392T>G (p.Phe1798Val)
2g.135789742A>GCA348586819LCTc.5392T>C (p.Phe1798Leu)
2g.135789742A>TCA348586822LCTc.5392T>A (p.Phe1798Ile)
2g.135789743A=CA1290822705LCTc.5391T= (p.Asn1797=)
2g.135789743A>CCA348586830LCTc.5391T>G (p.Asn1797Lys)
2g.135789743A>GCA1887619LCTc.5391T>C (p.Asn1797=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789743A>TCA348586835LCTc.5391T>A (p.Asn1797Lys)
2g.135789744T>ACA348586839LCTc.5390A>T (p.Asn1797Ile)
2g.135789744T>CCA348586844LCTc.5390A>G (p.Asn1797Ser)
2g.135789744T>GCA348586846LCTc.5390A>C (p.Asn1797Thr)

Number of alleles fetched