Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121160164delCA2616489309TBCEL-TECTA,TECTAc.4719del (p.Phe1573LeufsTer2)
c.2026del
n.655del
c.5676del (p.Phe1892LeufsTer2)
 gnomAD v4
11g.121160163T>ACA383028237TBCEL-TECTA,TECTAc.4718T>A (p.Phe1573Tyr)
c.2025T>A
n.654T>A
c.5675T>A (p.Phe1892Tyr)
11g.121160163T>CCA6327551TBCEL-TECTA,TECTAc.4718T>C (p.Phe1573Ser)
c.2025T>C
n.654T>C
c.5675T>C (p.Phe1892Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160163T>GCA383028236TBCEL-TECTA,TECTAc.4718T>G (p.Phe1573Cys)
c.2025T>G
n.654T>G
c.5675T>G (p.Phe1892Cys)
11g.121160163T=CA2004739133TBCEL-TECTA,TECTAc.4718T= (p.Phe1573=)
c.2025T=
n.654T=
c.5675T= (p.Phe1892=)
11g.121160164T>ACA229846013TBCEL-TECTA,TECTAc.4719T>A (p.Phe1573Leu)
c.2026T>A
n.655T>A
c.5676T>A (p.Phe1892Leu)
 dbSNP
11g.121160164T>CCA477383087TBCEL-TECTA,TECTAc.4719T>C (p.Phe1573=)
c.2026T>C
n.655T>C
c.5676T>C (p.Phe1892=)
11g.121160164T>GCA383028239TBCEL-TECTA,TECTAc.4719T>G (p.Phe1573Leu)
c.2026T>G
n.655T>G
c.5676T>G (p.Phe1892Leu)
11g.121160164T=CA2004739139TBCEL-TECTA,TECTAc.4719T= (p.Phe1573=)
c.2026T=
n.655T=
c.5676T= (p.Phe1892=)
11g.121160165A=CA2004739142TBCEL-TECTA,TECTAc.4720A= (p.Ile1574=)
c.2027A=
n.656A=
c.5677A= (p.Ile1893=)
11g.121160165A>CCA383028241TBCEL-TECTA,TECTAc.4720A>C (p.Ile1574Leu)
c.2027A>C
n.656A>C
c.5677A>C (p.Ile1893Leu)
11g.121160165A>GCA6327552TBCEL-TECTA,TECTAc.4720A>G (p.Ile1574Val)
c.2027A>G
n.656A>G
c.5677A>G (p.Ile1893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160165A>TCA383028244TBCEL-TECTA,TECTAc.4720A>T (p.Ile1574Leu)
c.2027A>T
n.656A>T
c.5677A>T (p.Ile1893Leu)
11g.121160166T>ACA383028246TBCEL-TECTA,TECTAc.4721T>A (p.Ile1574Lys)
c.2028T>A
n.657T>A
c.5678T>A (p.Ile1893Lys)
11g.121160166T>CCA383028247TBCEL-TECTA,TECTAc.4721T>C (p.Ile1574Thr)
c.2028T>C
n.657T>C
c.5678T>C (p.Ile1893Thr)
 gnomAD v4
11g.121160166T>GCA383028252TBCEL-TECTA,TECTAc.4721T>G (p.Ile1574Arg)
c.2028T>G
n.657T>G
c.5678T>G (p.Ile1893Arg)
11g.121160167A=CA2004739147TBCEL-TECTA,TECTAc.4722A= (p.Ile1574=)
c.2029A=
n.658A=
c.5679A= (p.Ile1893=)
11g.121160167A>CCA477383090TBCEL-TECTA,TECTAc.4722A>C (p.Ile1574=)
c.2029A>C
n.658A>C
c.5679A>C (p.Ile1893=)
11g.121160167A>GCA6327553TBCEL-TECTA,TECTAc.4722A>G (p.Ile1574Met)
c.2029A>G
n.658A>G
c.5679A>G (p.Ile1893Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160167A>TCA477383089TBCEL-TECTA,TECTAc.4722A>T (p.Ile1574=)
c.2029A>T
n.658A>T
c.5679A>T (p.Ile1893=)
11g.121160168A>CCA383028255TBCEL-TECTA,TECTAc.4723A>C (p.Thr1575Pro)
c.2030A>C
n.659A>C
c.5680A>C (p.Thr1894Pro)
11g.121160168A>GCA383028257TBCEL-TECTA,TECTAc.4723A>G (p.Thr1575Ala)
c.2030A>G
n.659A>G
c.5680A>G (p.Thr1894Ala)
11g.121160168A>TCA383028264TBCEL-TECTA,TECTAc.4723A>T (p.Thr1575Ser)
c.2030A>T
n.659A>T
c.5680A>T (p.Thr1894Ser)
11g.121160169C>ACA383028269TBCEL-TECTA,TECTAc.4724C>A (p.Thr1575Asn)
c.2031C>A
n.660C>A
c.5681C>A (p.Thr1894Asn)
 dbSNP
11g.121160169C=CA2004739150TBCEL-TECTA,TECTAc.4724C= (p.Thr1575=)
c.2031C=
n.660C=
c.5681C= (p.Thr1894=)
11g.121160169C>GCA383028268TBCEL-TECTA,TECTAc.4724C>G (p.Thr1575Ser)
c.2031C>G
n.660C>G
c.5681C>G (p.Thr1894Ser)
 COSMIC
11g.121160169C>TCA383028267TBCEL-TECTA,TECTAc.4724C>T (p.Thr1575Ile)
c.2031C>T
n.660C>T
c.5681C>T (p.Thr1894Ile)
11g.121160170T>ACA477383161TBCEL-TECTA,TECTAc.4725T>A (p.Thr1575=)
c.2032T>A
n.661T>A
c.5682T>A (p.Thr1894=)
 dbSNP
11g.121160170T>CCA477383162TBCEL-TECTA,TECTAc.4725T>C (p.Thr1575=)
c.2032T>C
n.661T>C
c.5682T>C (p.Thr1894=)
11g.121160170T>GCA477383163TBCEL-TECTA,TECTAc.4725T>G (p.Thr1575=)
c.2032T>G
n.661T>G
c.5682T>G (p.Thr1894=)
11g.121160170T=CA2004739153TBCEL-TECTA,TECTAc.4725T= (p.Thr1575=)
c.2032T=
n.661T=
c.5682T= (p.Thr1894=)
11g.121160171G>ACA383028273TBCEL-TECTA,TECTAc.4726G>A (p.Gly1576Ser)
c.2033G>A
n.662G>A
c.5683G>A (p.Gly1895Ser)
11g.121160171G>CCA383028275TBCEL-TECTA,TECTAc.4726G>C (p.Gly1576Arg)
c.2033G>C
n.662G>C
c.5683G>C (p.Gly1895Arg)
11g.121160171G>TCA383028277TBCEL-TECTA,TECTAc.4726G>T (p.Gly1576Cys)
c.2033G>T
n.662G>T
c.5683G>T (p.Gly1895Cys)
11g.121160172G>ACA383028279TBCEL-TECTA,TECTAc.4727G>A (p.Gly1576Asp)
c.2034G>A
n.663G>A
c.5684G>A (p.Gly1895Asp)
 COSMIC
11g.121160172G>CCA383028284TBCEL-TECTA,TECTAc.4727G>C (p.Gly1576Ala)
c.2034G>C
n.663G>C
c.5684G>C (p.Gly1895Ala)
11g.121160172G=CA2004739156TBCEL-TECTA,TECTAc.4727G= (p.Gly1576=)
c.2034G=
n.663G=
c.5684G= (p.Gly1895=)
11g.121160172G>TCA229846021TBCEL-TECTA,TECTAc.4727G>T (p.Gly1576Val)
c.2034G>T
n.663G>T
c.5684G>T (p.Gly1895Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160173T>ACA477383165TBCEL-TECTA,TECTAc.4728T>A (p.Gly1576=)
c.2035T>A
n.664T>A
c.5685T>A (p.Gly1895=)
11g.121160173T>CCA477383167TBCEL-TECTA,TECTAc.4728T>C (p.Gly1576=)
c.2035T>C
n.664T>C
c.5685T>C (p.Gly1895=)
11g.121160173T>GCA477383168TBCEL-TECTA,TECTAc.4728T>G (p.Gly1576=)
c.2035T>G
n.664T>G
c.5685T>G (p.Gly1895=)
 dbSNP gnomAD v4
11g.121160173T=CA2004739158TBCEL-TECTA,TECTAc.4728T= (p.Gly1576=)
c.2035T=
n.664T=
c.5685T= (p.Gly1895=)
11g.121160174T>ACA383028286TBCEL-TECTA,TECTAc.4729T>A (p.Leu1577Met)
c.2036T>A
n.665T>A
c.5686T>A (p.Leu1896Met)
11g.121160174T>CCA477383169TBCEL-TECTA,TECTAc.4729T>C (p.Leu1577=)
c.2036T>C
n.665T>C
c.5686T>C (p.Leu1896=)
11g.121160174T>GCA383028288TBCEL-TECTA,TECTAc.4729T>G (p.Leu1577Val)
c.2036T>G
n.665T>G
c.5686T>G (p.Leu1896Val)
11g.121160175T>ACA383028291TBCEL-TECTA,TECTAc.4730T>A (p.Leu1577Ter)
c.2037T>A
n.666T>A
c.5687T>A (p.Leu1896Ter)
11g.121160175T>CCA383028293TBCEL-TECTA,TECTAc.4730T>C (p.Leu1577Ser)
c.2037T>C
n.666T>C
c.5687T>C (p.Leu1896Ser)
11g.121160175T>GCA383028295TBCEL-TECTA,TECTAc.4730T>G (p.Leu1577Trp)
c.2037T>G
n.666T>G
c.5687T>G (p.Leu1896Trp)
11g.121160176G>ACA477383170TBCEL-TECTA,TECTAc.4731G>A (p.Leu1577=)
c.2038G>A
n.667G>A
c.5688G>A (p.Leu1896=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160176G>CCA383028303TBCEL-TECTA,TECTAc.4731G>C (p.Leu1577Phe)
c.2038G>C
n.667G>C
c.5688G>C (p.Leu1896Phe)
11g.121160176G=CA2004739160TBCEL-TECTA,TECTAc.4731G= (p.Leu1577=)
c.2038G=
n.667G=
c.5688G= (p.Leu1896=)
11g.121160176G>TCA383028307TBCEL-TECTA,TECTAc.4731G>T (p.Leu1577Phe)
c.2038G>T
n.667G>T
c.5688G>T (p.Leu1896Phe)
11g.121160177G>ACA383028315TBCEL-TECTA,TECTAc.4732G>A (p.Ala1578Thr)
c.2039G>A
n.668G>A
c.5689G>A (p.Ala1897Thr)
 gnomAD v4
11g.121160177G>CCA383028311TBCEL-TECTA,TECTAc.4732G>C (p.Ala1578Pro)
c.2039G>C
n.668G>C
c.5689G>C (p.Ala1897Pro)
11g.121160177G>TCA383028313TBCEL-TECTA,TECTAc.4732G>T (p.Ala1578Ser)
c.2039G>T
n.668G>T
c.5689G>T (p.Ala1897Ser)
11g.121160178C>ACA383028317TBCEL-TECTA,TECTAc.4733C>A (p.Ala1578Glu)
c.2040C>A
n.669C>A
c.5690C>A (p.Ala1897Glu)
11g.121160178C=CA2004739162TBCEL-TECTA,TECTAc.4733C= (p.Ala1578=)
c.2040C=
n.669C=
c.5690C= (p.Ala1897=)
11g.121160178C>GCA383028319TBCEL-TECTA,TECTAc.4733C>G (p.Ala1578Gly)
c.2040C>G
n.669C>G
c.5690C>G (p.Ala1897Gly)
11g.121160178C>TCA383028320TBCEL-TECTA,TECTAc.4733C>T (p.Ala1578Val)
c.2040C>T
n.669C>T
c.5690C>T (p.Ala1897Val)
 dbSNP
11g.121160179A>CCA477383174TBCEL-TECTA,TECTAc.4734A>C (p.Ala1578=)
c.2041A>C
n.670A>C
c.5691A>C (p.Ala1897=)
11g.121160179A>GCA477383175TBCEL-TECTA,TECTAc.4734A>G (p.Ala1578=)
c.2041A>G
n.670A>G
c.5691A>G (p.Ala1897=)
11g.121160179A>TCA477383176TBCEL-TECTA,TECTAc.4734A>T (p.Ala1578=)
c.2041A>T
n.670A>T
c.5691A>T (p.Ala1897=)
11g.121160180A>CCA383028322TBCEL-TECTA,TECTAc.4735A>C (p.Thr1579Pro)
c.2042A>C
n.671A>C
c.5692A>C (p.Thr1898Pro)
11g.121160180A>GCA383028324TBCEL-TECTA,TECTAc.4735A>G (p.Thr1579Ala)
c.2042A>G
n.671A>G
c.5692A>G (p.Thr1898Ala)
11g.121160180A>TCA383028327TBCEL-TECTA,TECTAc.4735A>T (p.Thr1579Ser)
c.2042A>T
n.671A>T
c.5692A>T (p.Thr1898Ser)
11g.121160181C>ACA383028329TBCEL-TECTA,TECTAc.4736C>A (p.Thr1579Asn)
c.2043C>A
n.672C>A
c.5693C>A (p.Thr1898Asn)
11g.121160181C>GCA383028331TBCEL-TECTA,TECTAc.4736C>G (p.Thr1579Ser)
c.2043C>G
n.672C>G
c.5693C>G (p.Thr1898Ser)
11g.121160181C>TCA383028334TBCEL-TECTA,TECTAc.4736C>T (p.Thr1579Ile)
c.2043C>T
n.672C>T
c.5693C>T (p.Thr1898Ile)
 gnomAD v4
11g.121160182C>ACA477383177TBCEL-TECTA,TECTAc.4737C>A (p.Thr1579=)
c.2044C>A
n.673C>A
c.5694C>A (p.Thr1898=)
11g.121160182C>GCA477383178TBCEL-TECTA,TECTAc.4737C>G (p.Thr1579=)
c.2044C>G
n.673C>G
c.5694C>G (p.Thr1898=)
11g.121160182C>TCA477383179TBCEL-TECTA,TECTAc.4737C>T (p.Thr1579=)
c.2044C>T
n.673C>T
c.5694C>T (p.Thr1898=)
11g.121160183A>CCA383028335TBCEL-TECTA,TECTAc.4738A>C (p.Lys1580Gln)
c.2045A>C
n.674A>C
c.5695A>C (p.Lys1899Gln)
 ClinVar dbSNP gnomAD v4
11g.121160183A>GCA383028337TBCEL-TECTA,TECTAc.4738A>G (p.Lys1580Glu)
c.2045A>G
n.674A>G
c.5695A>G (p.Lys1899Glu)
11g.121160183A>TCA383028338TBCEL-TECTA,TECTAc.4738A>T (p.Lys1580Ter)
c.2045A>T
n.674A>T
c.5695A>T (p.Lys1899Ter)
11g.121160184A>CCA383028342TBCEL-TECTA,TECTAc.4739A>C (p.Lys1580Thr)
c.2046A>C
n.675A>C
c.5696A>C (p.Lys1899Thr)
11g.121160184A>GCA383028348TBCEL-TECTA,TECTAc.4739A>G (p.Lys1580Arg)
c.2046A>G
n.675A>G
c.5696A>G (p.Lys1899Arg)
11g.121160184A>TCA383028345TBCEL-TECTA,TECTAc.4739A>T (p.Lys1580Ile)
c.2046A>T
n.675A>T
c.5696A>T (p.Lys1899Ile)
11g.121160185A=CA2004739166TBCEL-TECTA,TECTAc.4740A= (p.Lys1580=)
c.2047A=
n.676A=
c.5697A= (p.Lys1899=)
11g.121160185A>CCA6327555TBCEL-TECTA,TECTAc.4740A>C (p.Lys1580Asn)
c.2047A>C
n.676A>C
c.5697A>C (p.Lys1899Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160185A>GCA6327554TBCEL-TECTA,TECTAc.4740A>G (p.Lys1580=)
c.2047A>G
n.676A>G
c.5697A>G (p.Lys1899=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160185A>TCA383028351TBCEL-TECTA,TECTAc.4740A>T (p.Lys1580Asn)
c.2047A>T
n.676A>T
c.5697A>T (p.Lys1899Asn)
11g.121160185_121160186insCACACCCAACACCA2793889334TBCEL-TECTA,TECTAc.4740_4741insCACACCCAACAC (p.Lys1580_Ile1581insHisThrGlnHis)
c.2047_2048insCACACCCAACAC
n.676_677insCACACCCAACAC
c.5697_5698insCACACCCAACAC (p.Lys1899_Ile1900insHisThrGlnHis)
11g.121160186A>CCA383028352TBCEL-TECTA,TECTAc.4741A>C (p.Ile1581Leu)
c.2048A>C
n.677A>C
c.5698A>C (p.Ile1900Leu)
11g.121160186A>GCA383028353TBCEL-TECTA,TECTAc.4741A>G (p.Ile1581Val)
c.2048A>G
n.677A>G
c.5698A>G (p.Ile1900Val)
11g.121160186A>TCA383028354TBCEL-TECTA,TECTAc.4741A>T (p.Ile1581Phe)
c.2048A>T
n.677A>T
c.5698A>T (p.Ile1900Phe)
11g.121160187T>ACA383028355TBCEL-TECTA,TECTAc.4742T>A (p.Ile1581Asn)
c.2049T>A
n.678T>A
c.5699T>A (p.Ile1900Asn)
 gnomAD v4
11g.121160187T>CCA383028356TBCEL-TECTA,TECTAc.4742T>C (p.Ile1581Thr)
c.2049T>C
n.678T>C
c.5699T>C (p.Ile1900Thr)
11g.121160187T>GCA383028357TBCEL-TECTA,TECTAc.4742T>G (p.Ile1581Ser)
c.2049T>G
n.678T>G
c.5699T>G (p.Ile1900Ser)
11g.121160188C>ACA477383183TBCEL-TECTA,TECTAc.4743C>A (p.Ile1581=)
c.2050C>A
n.679C>A
c.5700C>A (p.Ile1900=)
11g.121160188C=CA2004739170TBCEL-TECTA,TECTAc.4743C= (p.Ile1581=)
c.2050C=
n.679C=
c.5700C= (p.Ile1900=)
11g.121160188C>GCA383028359TBCEL-TECTA,TECTAc.4743C>G (p.Ile1581Met)
c.2050C>G
n.679C>G
c.5700C>G (p.Ile1900Met)
 dbSNP gnomAD v3 gnomAD v4
11g.121160188C>TCA477383182TBCEL-TECTA,TECTAc.4743C>T (p.Ile1581=)
c.2050C>T
n.679C>T
c.5700C>T (p.Ile1900=)
 COSMIC
11g.121160189T>ACA383028360TBCEL-TECTA,TECTAc.4744T>A (p.Tyr1582Asn)
c.2051T>A
n.680T>A
c.5701T>A (p.Tyr1901Asn)
11g.121160189T>CCA6327556TBCEL-TECTA,TECTAc.4744T>C (p.Tyr1582His)
c.2051T>C
n.680T>C
c.5701T>C (p.Tyr1901His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160189T>GCA383028364TBCEL-TECTA,TECTAc.4744T>G (p.Tyr1582Asp)
c.2051T>G
n.680T>G
c.5701T>G (p.Tyr1901Asp)
11g.121160189T=CA2004739173TBCEL-TECTA,TECTAc.4744T= (p.Tyr1582=)
c.2051T=
n.680T=
c.5701T= (p.Tyr1901=)
11g.121160190A=CA2004739178TBCEL-TECTA,TECTAc.4745A= (p.Tyr1582=)
c.2052A=
n.681A=
c.5702A= (p.Tyr1901=)
11g.121160190A>CCA383028368TBCEL-TECTA,TECTAc.4745A>C (p.Tyr1582Ser)
c.2052A>C
n.681A>C
c.5702A>C (p.Tyr1901Ser)
11g.121160190A>GCA383028369TBCEL-TECTA,TECTAc.4745A>G (p.Tyr1582Cys)
c.2052A>G
n.681A>G
c.5702A>G (p.Tyr1901Cys)
 dbSNP
11g.121160190A>TCA383028371TBCEL-TECTA,TECTAc.4745A>T (p.Tyr1582Phe)
c.2052A>T
n.681A>T
c.5702A>T (p.Tyr1901Phe)
11g.121160191C>ACA383028374TBCEL-TECTA,TECTAc.4746C>A (p.Tyr1582Ter)
c.2053C>A
n.682C>A
c.5703C>A (p.Tyr1901Ter)
11g.121160191C>GCA383028375TBCEL-TECTA,TECTAc.4746C>G (p.Tyr1582Ter)
c.2053C>G
n.682C>G
c.5703C>G (p.Tyr1901Ter)
11g.121160191C>TCA477383184TBCEL-TECTA,TECTAc.4746C>T (p.Tyr1582=)
c.2053C>T
n.682C>T
c.5703C>T (p.Tyr1901=)
11g.121160192A=CA2004739180TBCEL-TECTA,TECTAc.4747A= (p.Ser1583=)
c.2054A=
n.683A=
c.5704A= (p.Ser1902=)
11g.121160192A>CCA383028376TBCEL-TECTA,TECTAc.4747A>C (p.Ser1583Arg)
c.2054A>C
n.683A>C
c.5704A>C (p.Ser1902Arg)
11g.121160192A>GCA383028377TBCEL-TECTA,TECTAc.4747A>G (p.Ser1583Gly)
c.2054A>G
n.683A>G
c.5704A>G (p.Ser1902Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.121160192A>TCA383028378TBCEL-TECTA,TECTAc.4747A>T (p.Ser1583Cys)
c.2054A>T
n.683A>T
c.5704A>T (p.Ser1902Cys)
11g.121160193G>ACA383028381TBCEL-TECTA,TECTAc.4748G>A (p.Ser1583Asn)
c.2055G>A
n.684G>A
c.5705G>A (p.Ser1902Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.121160193G>CCA383028386TBCEL-TECTA,TECTAc.4748G>C (p.Ser1583Thr)
c.2055G>C
n.684G>C
c.5705G>C (p.Ser1902Thr)
11g.121160193G=CA2004739183TBCEL-TECTA,TECTAc.4748G= (p.Ser1583=)
c.2055G=
n.684G=
c.5705G= (p.Ser1902=)
11g.121160193G>TCA383028389TBCEL-TECTA,TECTAc.4748G>T (p.Ser1583Ile)
c.2055G>T
n.684G>T
c.5705G>T (p.Ser1902Ile)
11g.121160194C>ACA383028391TBCEL-TECTA,TECTAc.4749C>A (p.Ser1583Arg)
c.2056C>A
n.685C>A
c.5706C>A (p.Ser1902Arg)
11g.121160194C>GCA383028393TBCEL-TECTA,TECTAc.4749C>G (p.Ser1583Arg)
c.2056C>G
n.685C>G
c.5706C>G (p.Ser1902Arg)
11g.121160194C>TCA477383186TBCEL-TECTA,TECTAc.4749C>T (p.Ser1583=)
c.2056C>T
n.685C>T
c.5706C>T (p.Ser1902=)
11g.121160195A>CCA383028395TBCEL-TECTA,TECTAc.4750A>C (p.Ser1584Arg)
c.2057A>C
n.686A>C
c.5707A>C (p.Ser1903Arg)
11g.121160195A>GCA383028397TBCEL-TECTA,TECTAc.4750A>G (p.Ser1584Gly)
c.2057A>G
n.686A>G
c.5707A>G (p.Ser1903Gly)
11g.121160195A>TCA383028398TBCEL-TECTA,TECTAc.4750A>T (p.Ser1584Cys)
c.2057A>T
n.686A>T
c.5707A>T (p.Ser1903Cys)
11g.121160196G>ACA383028406TBCEL-TECTA,TECTAc.4751G>A (p.Ser1584Asn)
c.2058G>A
n.687G>A
c.5708G>A (p.Ser1903Asn)
11g.121160196G>CCA136057TBCEL-TECTA,TECTAc.4751G>C (p.Ser1584Thr)
c.2058G>C
n.687G>C
c.5708G>C (p.Ser1903Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160196G=CA2004739187TBCEL-TECTA,TECTAc.4751G= (p.Ser1584=)
c.2058G=
n.687G=
c.5708G= (p.Ser1903=)
11g.121160196G>TCA383028402TBCEL-TECTA,TECTAc.4751G>T (p.Ser1584Ile)
c.2058G>T
n.687G>T
c.5708G>T (p.Ser1903Ile)
11g.121160197T>ACA383028413TBCEL-TECTA,TECTAc.4752T>A (p.Ser1584Arg)
c.2059T>A
n.688T>A
c.5709T>A (p.Ser1903Arg)
11g.121160197T>CCA477383187TBCEL-TECTA,TECTAc.4752T>C (p.Ser1584=)
c.2059T>C
n.688T>C
c.5709T>C (p.Ser1903=)
11g.121160197T>GCA383028410TBCEL-TECTA,TECTAc.4752T>G (p.Ser1584Arg)
c.2059T>G
n.688T>G
c.5709T>G (p.Ser1903Arg)
11g.121160198G>ACA383028416TBCEL-TECTA,TECTAc.4753G>A (p.Glu1585Lys)
c.2060G>A
n.689G>A
c.5710G>A (p.Glu1904Lys)
 gnomAD v4
11g.121160198G>CCA383028418TBCEL-TECTA,TECTAc.4753G>C (p.Glu1585Gln)
c.2060G>C
n.689G>C
c.5710G>C (p.Glu1904Gln)
11g.121160198G>TCA383028420TBCEL-TECTA,TECTAc.4753G>T (p.Glu1585Ter)
c.2060G>T
n.689G>T
c.5710G>T (p.Glu1904Ter)
11g.121160199A>CCA383028424TBCEL-TECTA,TECTAc.4754A>C (p.Glu1585Ala)
c.2061A>C
n.690A>C
c.5711A>C (p.Glu1904Ala)
11g.121160199A>GCA383028428TBCEL-TECTA,TECTAc.4754A>G (p.Glu1585Gly)
c.2061A>G
n.690A>G
c.5711A>G (p.Glu1904Gly)
11g.121160199A>TCA383028431TBCEL-TECTA,TECTAc.4754A>T (p.Glu1585Val)
c.2061A>T
n.690A>T
c.5711A>T (p.Glu1904Val)
11g.121160200G>ACA477383191TBCEL-TECTA,TECTAc.4755G>A (p.Glu1585=)
c.2062G>A
n.691G>A
c.5712G>A (p.Glu1904=)
11g.121160200G>CCA383028432TBCEL-TECTA,TECTAc.4755G>C (p.Glu1585Asp)
c.2062G>C
n.691G>C
c.5712G>C (p.Glu1904Asp)
11g.121160200G>TCA383028436TBCEL-TECTA,TECTAc.4755G>T (p.Glu1585Asp)
c.2062G>T
n.691G>T
c.5712G>T (p.Glu1904Asp)
11g.121160201G>ACA383028439TBCEL-TECTA,TECTAc.4756G>A (p.Gly1586Arg)
c.2063G>A
n.692G>A
c.5713G>A (p.Gly1905Arg)
11g.121160201G>CCA383028443TBCEL-TECTA,TECTAc.4756G>C (p.Gly1586Arg)
c.2063G>C
n.692G>C
c.5713G>C (p.Gly1905Arg)
11g.121160201G>TCA383028446TBCEL-TECTA,TECTAc.4756G>T (p.Gly1586Trp)
c.2063G>T
n.692G>T
c.5713G>T (p.Gly1905Trp)
11g.121160202G>ACA383028452TBCEL-TECTA,TECTAc.4757G>A (p.Gly1586Glu)
c.2064G>A
n.693G>A
c.5714G>A (p.Gly1905Glu)
11g.121160202G>CCA383028453TBCEL-TECTA,TECTAc.4757G>C (p.Gly1586Ala)
c.2064G>C
n.693G>C
c.5714G>C (p.Gly1905Ala)
11g.121160202G>TCA383028449TBCEL-TECTA,TECTAc.4757G>T (p.Gly1586Val)
c.2064G>T
n.693G>T
c.5714G>T (p.Gly1905Val)
11g.121160203G>ACA477383193TBCEL-TECTA,TECTAc.4758G>A (p.Gly1586=)
c.2065G>A
n.694G>A
c.5715G>A (p.Gly1905=)
11g.121160203G>CCA477383194TBCEL-TECTA,TECTAc.4758G>C (p.Gly1586=)
c.2065G>C
n.694G>C
c.5715G>C (p.Gly1905=)
11g.121160203G>TCA477383195TBCEL-TECTA,TECTAc.4758G>T (p.Gly1586=)
c.2065G>T
n.694G>T
c.5715G>T (p.Gly1905=)
 gnomAD v4
11g.121160204T>ACA383028455TBCEL-TECTA,TECTAc.4759T>A (p.Phe1587Ile)
c.2066T>A
n.695T>A
c.5716T>A (p.Phe1906Ile)
 gnomAD v4
11g.121160204T>CCA383028457TBCEL-TECTA,TECTAc.4759T>C (p.Phe1587Leu)
c.2066T>C
n.695T>C
c.5716T>C (p.Phe1906Leu)
11g.121160204T>GCA383028459TBCEL-TECTA,TECTAc.4759T>G (p.Phe1587Val)
c.2066T>G
n.695T>G
c.5716T>G (p.Phe1906Val)
11g.121160205T>ACA383028463TBCEL-TECTA,TECTAc.4760T>A (p.Phe1587Tyr)
c.2067T>A
n.696T>A
c.5717T>A (p.Phe1906Tyr)
11g.121160205T>CCA383028465TBCEL-TECTA,TECTAc.4760T>C (p.Phe1587Ser)
c.2067T>C
n.696T>C
c.5717T>C (p.Phe1906Ser)
11g.121160205T>GCA383028467TBCEL-TECTA,TECTAc.4760T>G (p.Phe1587Cys)
c.2067T>G
n.696T>G
c.5717T>G (p.Phe1906Cys)
11g.121160206T>ACA383028468TBCEL-TECTA,TECTAc.4761T>A (p.Phe1587Leu)
c.2068T>A
n.697T>A
c.5718T>A (p.Phe1906Leu)
11g.121160206T>CCA229846045TBCEL-TECTA,TECTAc.4761T>C (p.Phe1587=)
c.2068T>C
n.697T>C
c.5718T>C (p.Phe1906=)
 dbSNP
11g.121160206T>GCA383028470TBCEL-TECTA,TECTAc.4761T>G (p.Phe1587Leu)
c.2068T>G
n.697T>G
c.5718T>G (p.Phe1906Leu)
11g.121160206T=CA2004739190TBCEL-TECTA,TECTAc.4761T= (p.Phe1587=)
c.2068T=
n.697T=
c.5718T= (p.Phe1906=)
11g.121160207C>ACA383028474TBCEL-TECTA,TECTAc.4762C>A (p.Leu1588Met)
c.2069C>A
n.698C>A
c.5719C>A (p.Leu1907Met)
11g.121160207C>GCA383028476TBCEL-TECTA,TECTAc.4762C>G (p.Leu1588Val)
c.2069C>G
n.698C>G
c.5719C>G (p.Leu1907Val)
11g.121160207C>TCA477383196TBCEL-TECTA,TECTAc.4762C>T (p.Leu1588=)
c.2069C>T
n.698C>T
c.5719C>T (p.Leu1907=)
11g.121160208T>ACA383028481TBCEL-TECTA,TECTAc.4763T>A (p.Leu1588Gln)
c.2070T>A
n.699T>A
c.5720T>A (p.Leu1907Gln)
11g.121160208T>CCA383028482TBCEL-TECTA,TECTAc.4763T>C (p.Leu1588Pro)
c.2070T>C
n.699T>C
c.5720T>C (p.Leu1907Pro)
11g.121160208T>GCA383028486TBCEL-TECTA,TECTAc.4763T>G (p.Leu1588Arg)
c.2070T>G
n.699T>G
c.5720T>G (p.Leu1907Arg)
11g.121160209G>ACA477383198TBCEL-TECTA,TECTAc.4764G>A (p.Leu1588=)
c.2071G>A
n.700G>A
c.5721G>A (p.Leu1907=)
 gnomAD v4
11g.121160209G>CCA6327557TBCEL-TECTA,TECTAc.4764G>C (p.Leu1588=)
c.2071G>C
n.700G>C
c.5721G>C (p.Leu1907=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160209G=CA2004739192TBCEL-TECTA,TECTAc.4764G= (p.Leu1588=)
c.2071G=
n.700G=
c.5721G= (p.Leu1907=)
11g.121160209G>TCA477383199TBCEL-TECTA,TECTAc.4764G>T (p.Leu1588=)
c.2071G>T
n.700G>T
c.5721G>T (p.Leu1907=)
11g.121160210G>ACA383028508TBCEL-TECTA,TECTAc.4765G>A (p.Val1589Met)
c.2072G>A
n.701G>A
c.5722G>A (p.Val1908Met)
 dbSNP gnomAD v2 gnomAD v4
11g.121160210G>CCA383028494TBCEL-TECTA,TECTAc.4765G>C (p.Val1589Leu)
c.2072G>C
n.701G>C
c.5722G>C (p.Val1908Leu)
 dbSNP gnomAD v4
11g.121160210G=CA2004739195TBCEL-TECTA,TECTAc.4765G= (p.Val1589=)
c.2072G=
n.701G=
c.5722G= (p.Val1908=)
11g.121160210G>TCA383028492TBCEL-TECTA,TECTAc.4765G>T (p.Val1589Leu)
c.2072G>T
n.701G>T
c.5722G>T (p.Val1908Leu)
11g.121160211T>ACA383028510TBCEL-TECTA,TECTAc.4766T>A (p.Val1589Glu)
c.2073T>A
n.702T>A
c.5723T>A (p.Val1908Glu)
11g.121160211T>CCA383028512TBCEL-TECTA,TECTAc.4766T>C (p.Val1589Ala)
c.2073T>C
n.702T>C
c.5723T>C (p.Val1908Ala)
11g.121160211T>GCA383028533TBCEL-TECTA,TECTAc.4766T>G (p.Val1589Gly)
c.2073T>G
n.702T>G
c.5723T>G (p.Val1908Gly)
11g.121160212G>ACA6327558TBCEL-TECTA,TECTAc.4767G>A (p.Val1589=)
c.2074G>A
n.703G>A
c.5724G>A (p.Val1908=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160212G>CCA477383200TBCEL-TECTA,TECTAc.4767G>C (p.Val1589=)
c.2074G>C
n.703G>C
c.5724G>C (p.Val1908=)
11g.121160212G=CA2004739197TBCEL-TECTA,TECTAc.4767G= (p.Val1589=)
c.2074G=
n.703G=
c.5724G= (p.Val1908=)
11g.121160212G>TCA477383201TBCEL-TECTA,TECTAc.4767G>T (p.Val1589=)
c.2074G>T
n.703G>T
c.5724G>T (p.Val1908=)
11g.121160213A=CA2004739199TBCEL-TECTA,TECTAc.4768A= (p.Ile1590=)
c.2075A=
n.704A=
c.5725A= (p.Ile1909=)
11g.121160213A>CCA383028536TBCEL-TECTA,TECTAc.4768A>C (p.Ile1590Leu)
c.2075A>C
n.704A>C
c.5725A>C (p.Ile1909Leu)
11g.121160213A>GCA6327559TBCEL-TECTA,TECTAc.4768A>G (p.Ile1590Val)
c.2075A>G
n.704A>G
c.5725A>G (p.Ile1909Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160213A>TCA383028538TBCEL-TECTA,TECTAc.4768A>T (p.Ile1590Phe)
c.2075A>T
n.704A>T
c.5725A>T (p.Ile1909Phe)
11g.121160214T>ACA383028540TBCEL-TECTA,TECTAc.4769T>A (p.Ile1590Asn)
c.2076T>A
n.705T>A
c.5726T>A (p.Ile1909Asn)
11g.121160214T>CCA383028546TBCEL-TECTA,TECTAc.4769T>C (p.Ile1590Thr)
c.2076T>C
n.705T>C
c.5726T>C (p.Ile1909Thr)
11g.121160214T>GCA383028543TBCEL-TECTA,TECTAc.4769T>G (p.Ile1590Ser)
c.2076T>G
n.705T>G
c.5726T>G (p.Ile1909Ser)
11g.121160215T>ACA477383202TBCEL-TECTA,TECTAc.4770T>A (p.Ile1590=)
c.2077T>A
n.706T>A
c.5727T>A (p.Ile1909=)
11g.121160215T>CCA477383203TBCEL-TECTA,TECTAc.4770T>C (p.Ile1590=)
c.2077T>C
n.706T>C
c.5727T>C (p.Ile1909=)
11g.121160215T>GCA383028547TBCEL-TECTA,TECTAc.4770T>G (p.Ile1590Met)
c.2077T>G
n.706T>G
c.5727T>G (p.Ile1909Met)
11g.121160216G>ACA383028550TBCEL-TECTA,TECTAc.4771G>A (p.Asp1591Asn)
c.2078G>A
n.707G>A
c.5728G>A (p.Asp1910Asn)
11g.121160216G>CCA6327560TBCEL-TECTA,TECTAc.4771G>C (p.Asp1591His)
c.2078G>C
n.707G>C
c.5728G>C (p.Asp1910His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160216G=CA2004739202TBCEL-TECTA,TECTAc.4771G= (p.Asp1591=)
c.2078G=
n.707G=
c.5728G= (p.Asp1910=)
11g.121160216G>TCA383028552TBCEL-TECTA,TECTAc.4771G>T (p.Asp1591Tyr)
c.2078G>T
n.707G>T
c.5728G>T (p.Asp1910Tyr)
11g.121160217A>CCA383028563TBCEL-TECTA,TECTAc.4772A>C (p.Asp1591Ala)
c.2079A>C
n.708A>C
c.5729A>C (p.Asp1910Ala)
11g.121160217A>GCA383028558TBCEL-TECTA,TECTAc.4772A>G (p.Asp1591Gly)
c.2079A>G
n.708A>G
c.5729A>G (p.Asp1910Gly)
11g.121160217A>TCA383028560TBCEL-TECTA,TECTAc.4772A>T (p.Asp1591Val)
c.2079A>T
n.708A>T
c.5729A>T (p.Asp1910Val)
11g.121160218C>ACA383028565TBCEL-TECTA,TECTAc.4773C>A (p.Asp1591Glu)
c.2080C>A
n.709C>A
c.5730C>A (p.Asp1910Glu)
11g.121160218C>GCA383028568TBCEL-TECTA,TECTAc.4773C>G (p.Asp1591Glu)
c.2080C>G
n.709C>G
c.5730C>G (p.Asp1910Glu)
11g.121160218C>TCA477383205TBCEL-TECTA,TECTAc.4773C>T (p.Asp1591=)
c.2080C>T
n.709C>T
c.5730C>T (p.Asp1910=)
 gnomAD v4
11g.121160219A>CCA383028572TBCEL-TECTA,TECTAc.4774A>C (p.Thr1592Pro)
c.2081A>C
n.710A>C
c.5731A>C (p.Thr1911Pro)
11g.121160219A>GCA383028574TBCEL-TECTA,TECTAc.4774A>G (p.Thr1592Ala)
c.2081A>G
n.710A>G
c.5731A>G (p.Thr1911Ala)
11g.121160219A>TCA383028577TBCEL-TECTA,TECTAc.4774A>T (p.Thr1592Ser)
c.2081A>T
n.710A>T
c.5731A>T (p.Thr1911Ser)
11g.121160220C>ACA6327561TBCEL-TECTA,TECTAc.4775C>A (p.Thr1592Asn)
c.2082C>A
n.711C>A
c.5732C>A (p.Thr1911Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160220C=CA2004739204TBCEL-TECTA,TECTAc.4775C= (p.Thr1592=)
c.2082C=
n.711C=
c.5732C= (p.Thr1911=)
11g.121160220C>GCA383028582TBCEL-TECTA,TECTAc.4775C>G (p.Thr1592Ser)
c.2082C>G
n.711C>G
c.5732C>G (p.Thr1911Ser)
 gnomAD v4
11g.121160220C>TCA383028585TBCEL-TECTA,TECTAc.4775C>T (p.Thr1592Ile)
c.2082C>T
n.711C>T
c.5732C>T (p.Thr1911Ile)
11g.121160221C>ACA477383207TBCEL-TECTA,TECTAc.4776C>A (p.Thr1592=)
c.2083C>A
n.712C>A
c.5733C>A (p.Thr1911=)
 gnomAD v4
11g.121160221C=CA2004739208TBCEL-TECTA,TECTAc.4776C= (p.Thr1592=)
c.2083C=
n.712C=
c.5733C= (p.Thr1911=)
11g.121160221C>GCA477383208TBCEL-TECTA,TECTAc.4776C>G (p.Thr1592=)
c.2083C>G
n.712C>G
c.5733C>G (p.Thr1911=)
11g.121160221C>TCA6327562TBCEL-TECTA,TECTAc.4776C>T (p.Thr1592=)
c.2083C>T
n.712C>T
c.5733C>T (p.Thr1911=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160222A>CCA383028590TBCEL-TECTA,TECTAc.4777A>C (p.Ser1593Arg)
c.2084A>C
n.713A>C
c.5734A>C (p.Ser1912Arg)
11g.121160222A>GCA383028591TBCEL-TECTA,TECTAc.4777A>G (p.Ser1593Gly)
c.2084A>G
n.713A>G
c.5734A>G (p.Ser1912Gly)
11g.121160222A>TCA383028597TBCEL-TECTA,TECTAc.4777A>T (p.Ser1593Cys)
c.2084A>T
n.713A>T
c.5734A>T (p.Ser1912Cys)
11g.121160223G>ACA383028603TBCEL-TECTA,TECTAc.4778G>A (p.Ser1593Asn)
c.2085G>A
n.714G>A
c.5735G>A (p.Ser1912Asn)
 ClinVar gnomAD v4
11g.121160223G>CCA383028599TBCEL-TECTA,TECTAc.4778G>C (p.Ser1593Thr)
c.2085G>C
n.714G>C
c.5735G>C (p.Ser1912Thr)
11g.121160223G=CA2004739210TBCEL-TECTA,TECTAc.4778G= (p.Ser1593=)
c.2085G=
n.714G=
c.5735G= (p.Ser1912=)
11g.121160223G>TCA6327563TBCEL-TECTA,TECTAc.4778G>T (p.Ser1593Ile)
c.2085G>T
n.714G>T
c.5735G>T (p.Ser1912Ile)
 dbSNP ExAC gnomAD v2
11g.121160224C>ACA383028605TBCEL-TECTA,TECTAc.4779C>A (p.Ser1593Arg)
c.2086C>A
n.715C>A
c.5736C>A (p.Ser1912Arg)
11g.121160224C>GCA383028607TBCEL-TECTA,TECTAc.4779C>G (p.Ser1593Arg)
c.2086C>G
n.715C>G
c.5736C>G (p.Ser1912Arg)
11g.121160224C>TCA477383210TBCEL-TECTA,TECTAc.4779C>T (p.Ser1593=)
c.2086C>T
n.715C>T
c.5736C>T (p.Ser1912=)
11g.121160226dupCA477383211TBCEL-TECTA,TECTAc.4781dup (p.Asp1595ArgfsTer13)
c.2088dup
n.717dup
c.5738dup (p.Asp1914ArgfsTer13)
11g.121160224_121160232delinsCCCAGACATCA2004739212TBCEL-TECTA,TECTAc.4779_4787delinsCCCAGACAT (p.Ser1593=)
c.2086_2094delinsCCCAGACAT
n.715_723delinsCCCAGACAT
c.5736_5744delinsCCCAGACAT (p.Ser1912=)
11g.121160225C>ACA383028608TBCEL-TECTA,TECTAc.4780C>A (p.Pro1594Thr)
c.2087C>A
n.716C>A
c.5737C>A (p.Pro1913Thr)
 dbSNP
11g.121160225C=CA2004739216TBCEL-TECTA,TECTAc.4780C= (p.Pro1594=)
c.2087C=
n.716C=
c.5737C= (p.Pro1913=)
11g.121160225C>GCA383028610TBCEL-TECTA,TECTAc.4780C>G (p.Pro1594Ala)
c.2087C>G
n.716C>G
c.5737C>G (p.Pro1913Ala)
11g.121160225C>TCA383028613TBCEL-TECTA,TECTAc.4780C>T (p.Pro1594Ser)
c.2087C>T
n.716C>T
c.5737C>T (p.Pro1913Ser)
11g.121160230_121160237delCA6327564TBCEL-TECTA,TECTAc.4785_4792del (p.Gln1597LeufsTer8)
c.2092_2099del
n.721_728del
c.5742_5749del (p.Gln1916LeufsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160226C>ACA6327565TBCEL-TECTA,TECTAc.4781C>A (p.Pro1594Gln)
c.2088C>A
n.717C>A
c.5738C>A (p.Pro1913Gln)
 dbSNP ExAC gnomAD v2
11g.121160226C=CA2004739219TBCEL-TECTA,TECTAc.4781C= (p.Pro1594=)
c.2088C=
n.717C=
c.5738C= (p.Pro1913=)
11g.121160226C>GCA383028617TBCEL-TECTA,TECTAc.4781C>G (p.Pro1594Arg)
c.2088C>G
n.717C>G
c.5738C>G (p.Pro1913Arg)
11g.121160226C>TCA383028619TBCEL-TECTA,TECTAc.4781C>T (p.Pro1594Leu)
c.2088C>T
n.717C>T
c.5738C>T (p.Pro1913Leu)
11g.121160227A>CCA477383212TBCEL-TECTA,TECTAc.4782A>C (p.Pro1594=)
c.2089A>C
n.718A>C
c.5739A>C (p.Pro1913=)
11g.121160227A>GCA477383215TBCEL-TECTA,TECTAc.4782A>G (p.Pro1594=)
c.2089A>G
n.718A>G
c.5739A>G (p.Pro1913=)
 gnomAD v4
11g.121160227A>TCA477383213TBCEL-TECTA,TECTAc.4782A>T (p.Pro1594=)
c.2089A>T
n.718A>T
c.5739A>T (p.Pro1913=)
11g.121160228G>ACA383028625TBCEL-TECTA,TECTAc.4783G>A (p.Asp1595Asn)
c.2090G>A
n.719G>A
c.5740G>A (p.Asp1914Asn)
11g.121160228G>CCA383028626TBCEL-TECTA,TECTAc.4783G>C (p.Asp1595His)
c.2090G>C
n.719G>C
c.5740G>C (p.Asp1914His)
11g.121160228G>TCA383028629TBCEL-TECTA,TECTAc.4783G>T (p.Asp1595Tyr)
c.2090G>T
n.719G>T
c.5740G>T (p.Asp1914Tyr)
11g.121160228_121160229delinsGACA2004739221TBCEL-TECTA,TECTAc.4783_4784delinsGA (p.Asp1595=)
c.2090_2091delinsGA
n.719_720delinsGA
c.5740_5741delinsGA (p.Asp1914=)
11g.121160229delCA602580299TBCEL-TECTA,TECTAc.4784del (p.Asp1595AlafsTer?)
c.2091del
n.720del
c.5741del (p.Asp1914AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.121160229A>CCA383028640TBCEL-TECTA,TECTAc.4784A>C (p.Asp1595Ala)
c.2091A>C
n.720A>C
c.5741A>C (p.Asp1914Ala)
11g.121160229A>GCA383028635TBCEL-TECTA,TECTAc.4784A>G (p.Asp1595Gly)
c.2091A>G
n.720A>G
c.5741A>G (p.Asp1914Gly)
11g.121160229A>TCA383028632TBCEL-TECTA,TECTAc.4784A>T (p.Asp1595Val)
c.2091A>T
n.720A>T
c.5741A>T (p.Asp1914Val)
11g.121160230C>ACA383028643TBCEL-TECTA,TECTAc.4785C>A (p.Asp1595Glu)
c.2092C>A
n.721C>A
c.5742C>A (p.Asp1914Glu)
11g.121160230C>GCA383028650TBCEL-TECTA,TECTAc.4785C>G (p.Asp1595Glu)
c.2092C>G
n.721C>G
c.5742C>G (p.Asp1914Glu)
11g.121160230C>TCA477383217TBCEL-TECTA,TECTAc.4785C>T (p.Asp1595=)
c.2092C>T
n.721C>T
c.5742C>T (p.Asp1914=)
 gnomAD v4
11g.121160231A>CCA383028652TBCEL-TECTA,TECTAc.4786A>C (p.Ile1596Leu)
c.2093A>C
n.722A>C
c.5743A>C (p.Ile1915Leu)
11g.121160231A>GCA383028653TBCEL-TECTA,TECTAc.4786A>G (p.Ile1596Val)
c.2093A>G
n.722A>G
c.5743A>G (p.Ile1915Val)
 gnomAD v4
11g.121160231A>TCA383028657TBCEL-TECTA,TECTAc.4786A>T (p.Ile1596Phe)
c.2093A>T
n.722A>T
c.5743A>T (p.Ile1915Phe)
11g.121160232T>ACA383028661TBCEL-TECTA,TECTAc.4787T>A (p.Ile1596Asn)
c.2094T>A
n.723T>A
c.5744T>A (p.Ile1915Asn)
11g.121160232T>CCA383028663TBCEL-TECTA,TECTAc.4787T>C (p.Ile1596Thr)
c.2094T>C
n.723T>C
c.5744T>C (p.Ile1915Thr)
 gnomAD v4
11g.121160232T>GCA383028666TBCEL-TECTA,TECTAc.4787T>G (p.Ile1596Ser)
c.2094T>G
n.723T>G
c.5744T>G (p.Ile1915Ser)
11g.121160233C>ACA477383218TBCEL-TECTA,TECTAc.4788C>A (p.Ile1596=)
c.2095C>A
n.724C>A
c.5745C>A (p.Ile1915=)
11g.121160233C=CA2004739225TBCEL-TECTA,TECTAc.4788C= (p.Ile1596=)
c.2095C=
n.724C=
c.5745C= (p.Ile1915=)
11g.121160233C>GCA383028671TBCEL-TECTA,TECTAc.4788C>G (p.Ile1596Met)
c.2095C>G
n.724C>G
c.5745C>G (p.Ile1915Met)
11g.121160233C>TCA178108TBCEL-TECTA,TECTAc.4788C>T (p.Ile1596=)
c.2095C>T
n.724C>T
c.5745C>T (p.Ile1915=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160234C>ACA383028673TBCEL-TECTA,TECTAc.4789C>A (p.Gln1597Lys)
c.2096C>A
n.725C>A
c.5746C>A (p.Gln1916Lys)
11g.121160234C=CA2004739229TBCEL-TECTA,TECTAc.4789C= (p.Gln1597=)
c.2096C=
n.725C=
c.5746C= (p.Gln1916=)
11g.121160234C>GCA383028675TBCEL-TECTA,TECTAc.4789C>G (p.Gln1597Glu)
c.2096C>G
n.725C>G
c.5746C>G (p.Gln1916Glu)
 dbSNP
11g.121160234C>TCA383028677TBCEL-TECTA,TECTAc.4789C>T (p.Gln1597Ter)
c.2096C>T
n.725C>T
c.5746C>T (p.Gln1916Ter)
11g.121160235A>CCA383028682TBCEL-TECTA,TECTAc.4790A>C (p.Gln1597Pro)
c.2097A>C
n.726A>C
c.5747A>C (p.Gln1916Pro)
11g.121160235A>GCA383028684TBCEL-TECTA,TECTAc.4790A>G (p.Gln1597Arg)
c.2097A>G
n.726A>G
c.5747A>G (p.Gln1916Arg)
11g.121160235A>TCA383028681TBCEL-TECTA,TECTAc.4790A>T (p.Gln1597Leu)
c.2097A>T
n.726A>T
c.5747A>T (p.Gln1916Leu)
11g.121160236G>ACA477383220TBCEL-TECTA,TECTAc.4791G>A (p.Gln1597=)
c.2098G>A
n.727G>A
c.5748G>A (p.Gln1916=)
11g.121160236G>CCA6327566TBCEL-TECTA,TECTAc.4791G>C (p.Gln1597His)
c.2098G>C
n.727G>C
c.5748G>C (p.Gln1916His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160236G=CA2004739231TBCEL-TECTA,TECTAc.4791G= (p.Gln1597=)
c.2098G=
n.727G=
c.5748G= (p.Gln1916=)
11g.121160236G>TCA383028687TBCEL-TECTA,TECTAc.4791G>T (p.Gln1597His)
c.2098G>T
n.727G>T
c.5748G>T (p.Gln1916His)
11g.121160237A>CCA383028689TBCEL-TECTA,TECTAc.4792A>C (p.Ile1598Leu)
c.2099A>C
n.728A>C
c.5749A>C (p.Ile1917Leu)
11g.121160237A>GCA383028694TBCEL-TECTA,TECTAc.4792A>G (p.Ile1598Val)
c.2099A>G
n.728A>G
c.5749A>G (p.Ile1917Val)
11g.121160237A>TCA383028692TBCEL-TECTA,TECTAc.4792A>T (p.Ile1598Leu)
c.2099A>T
n.728A>T
c.5749A>T (p.Ile1917Leu)
11g.121160238T>ACA383028696TBCEL-TECTA,TECTAc.4793T>A (p.Ile1598Lys)
c.2100T>A
n.729T>A
c.5750T>A (p.Ile1917Lys)
11g.121160238T>CCA383028698TBCEL-TECTA,TECTAc.4793T>C (p.Ile1598Thr)
c.2100T>C
n.729T>C
c.5750T>C (p.Ile1917Thr)
11g.121160238T>GCA383028700TBCEL-TECTA,TECTAc.4793T>G (p.Ile1598Arg)
c.2100T>G
n.729T>G
c.5750T>G (p.Ile1917Arg)
11g.121160239A=CA2004739236TBCEL-TECTA,TECTAc.4794A= (p.Ile1598=)
c.2101A=
n.730A=
c.5751A= (p.Ile1917=)
11g.121160239A>CCA477383222TBCEL-TECTA,TECTAc.4794A>C (p.Ile1598=)
c.2101A>C
n.730A>C
c.5751A>C (p.Ile1917=)
11g.121160239A>GCA6327567TBCEL-TECTA,TECTAc.4794A>G (p.Ile1598Met)
c.2101A>G
n.730A>G
c.5751A>G (p.Ile1917Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160239A>TCA477383223TBCEL-TECTA,TECTAc.4794A>T (p.Ile1598=)
c.2101A>T
n.730A>T
c.5751A>T (p.Ile1917=)
11g.121160240T>ACA383028702TBCEL-TECTA,TECTAc.4795T>A (p.Tyr1599Asn)
c.2102T>A
n.731T>A
c.5752T>A (p.Tyr1918Asn)
11g.121160240T>CCA383028705TBCEL-TECTA,TECTAc.4795T>C (p.Tyr1599His)
c.2102T>C
n.731T>C
c.5752T>C (p.Tyr1918His)
11g.121160240T>GCA383028707TBCEL-TECTA,TECTAc.4795T>G (p.Tyr1599Asp)
c.2102T>G
n.731T>G
c.5752T>G (p.Tyr1918Asp)
11g.121160241A>CCA383028708TBCEL-TECTA,TECTAc.4796A>C (p.Tyr1599Ser)
c.2103A>C
n.732A>C
c.5753A>C (p.Tyr1918Ser)
11g.121160241A>GCA383028710TBCEL-TECTA,TECTAc.4796A>G (p.Tyr1599Cys)
c.2103A>G
n.732A>G
c.5753A>G (p.Tyr1918Cys)
11g.121160241A>TCA383028712TBCEL-TECTA,TECTAc.4796A>T (p.Tyr1599Phe)
c.2103A>T
n.732A>T
c.5753A>T (p.Tyr1918Phe)
11g.121160242C>ACA383028722TBCEL-TECTA,TECTAc.4797C>A (p.Tyr1599Ter)
c.2104C>A
n.733C>A
c.5754C>A (p.Tyr1918Ter)
11g.121160242C>GCA383028725TBCEL-TECTA,TECTAc.4797C>G (p.Tyr1599Ter)
c.2104C>G
n.733C>G
c.5754C>G (p.Tyr1918Ter)
11g.121160242C>TCA477383227TBCEL-TECTA,TECTAc.4797C>T (p.Tyr1599=)
c.2104C>T
n.733C>T
c.5754C>T (p.Tyr1918=)
11g.121160243T>ACA383028730TBCEL-TECTA,TECTAc.4798T>A (p.Tyr1600Asn)
c.2105T>A
n.734T>A
c.5755T>A (p.Tyr1919Asn)
11g.121160243T>CCA383028736TBCEL-TECTA,TECTAc.4798T>C (p.Tyr1600His)
c.2105T>C
n.734T>C
c.5755T>C (p.Tyr1919His)
 gnomAD v4
11g.121160243T>GCA383028732TBCEL-TECTA,TECTAc.4798T>G (p.Tyr1600Asp)
c.2105T>G
n.734T>G
c.5755T>G (p.Tyr1919Asp)
11g.121160244A>CCA383028738TBCEL-TECTA,TECTAc.4799A>C (p.Tyr1600Ser)
c.2106A>C
n.735A>C
c.5756A>C (p.Tyr1919Ser)
11g.121160244A>GCA383028742TBCEL-TECTA,TECTAc.4799A>G (p.Tyr1600Cys)
c.2106A>G
n.735A>G
c.5756A>G (p.Tyr1919Cys)
11g.121160244A>TCA383028746TBCEL-TECTA,TECTAc.4799A>T (p.Tyr1600Phe)
c.2106A>T
n.735A>T
c.5756A>T (p.Tyr1919Phe)
11g.121160245C>ACA383028750TBCEL-TECTA,TECTAc.4800C>A (p.Tyr1600Ter)
c.2107C>A
n.736C>A
c.5757C>A (p.Tyr1919Ter)
11g.121160245C=CA2004739239TBCEL-TECTA,TECTAc.4800C= (p.Tyr1600=)
c.2107C=
n.736C=
c.5757C= (p.Tyr1919=)
11g.121160245C>GCA383028751TBCEL-TECTA,TECTAc.4800C>G (p.Tyr1600Ter)
c.2107C>G
n.736C>G
c.5757C>G (p.Tyr1919Ter)
11g.121160245C>TCA6327568TBCEL-TECTA,TECTAc.4800C>T (p.Tyr1600=)
c.2107C>T
n.736C>T
c.5757C>T (p.Tyr1919=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160246A=CA2004739243TBCEL-TECTA,TECTAc.4801A= (p.Asn1601=)
c.2108A=
n.737A=
c.5758A= (p.Asn1920=)
11g.121160246A>CCA383028752TBCEL-TECTA,TECTAc.4801A>C (p.Asn1601His)
c.2108A>C
n.737A>C
c.5758A>C (p.Asn1920His)
11g.121160246A>GCA383028753TBCEL-TECTA,TECTAc.4801A>G (p.Asn1601Asp)
c.2108A>G
n.737A>G
c.5758A>G (p.Asn1920Asp)
 dbSNP gnomAD v4
11g.121160246A>TCA383028754TBCEL-TECTA,TECTAc.4801A>T (p.Asn1601Tyr)
c.2108A>T
n.737A>T
c.5758A>T (p.Asn1920Tyr)
11g.121160247A=CA2004739249TBCEL-TECTA,TECTAc.4802A= (p.Asn1601=)
c.2109A=
n.738A=
c.5759A= (p.Asn1920=)
11g.121160247A>CCA383028761TBCEL-TECTA,TECTAc.4802A>C (p.Asn1601Thr)
c.2109A>C
n.738A>C
c.5759A>C (p.Asn1920Thr)
11g.121160247A>GCA6327569TBCEL-TECTA,TECTAc.4802A>G (p.Asn1601Ser)
c.2109A>G
n.738A>G
c.5759A>G (p.Asn1920Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160247A>TCA383028759TBCEL-TECTA,TECTAc.4802A>T (p.Asn1601Ile)
c.2109A>T
n.738A>T
c.5759A>T (p.Asn1920Ile)
11g.121160248T>ACA383028764TBCEL-TECTA,TECTAc.4803T>A (p.Asn1601Lys)
c.2110T>A
n.739T>A
c.5760T>A (p.Asn1920Lys)
11g.121160248T>CCA477383234TBCEL-TECTA,TECTAc.4803T>C (p.Asn1601=)
c.2110T>C
n.739T>C
c.5760T>C (p.Asn1920=)
 dbSNP gnomAD v3 gnomAD v4
11g.121160248T>GCA383028766TBCEL-TECTA,TECTAc.4803T>G (p.Asn1601Lys)
c.2110T>G
n.739T>G
c.5760T>G (p.Asn1920Lys)
11g.121160248T=CA2004739251TBCEL-TECTA,TECTAc.4803T= (p.Asn1601=)
c.2110T=
n.739T=
c.5760T= (p.Asn1920=)
11g.121160249G>ACA383028769TBCEL-TECTA,TECTAc.4804G>A (p.Gly1602Ser)
c.2111G>A
n.740G>A
c.5761G>A (p.Gly1921Ser)
11g.121160249G>CCA383028770TBCEL-TECTA,TECTAc.4804G>C (p.Gly1602Arg)
c.2111G>C
n.740G>C
c.5761G>C (p.Gly1921Arg)
11g.121160249G=CA2004739253TBCEL-TECTA,TECTAc.4804G= (p.Gly1602=)
c.2111G=
n.740G=
c.5761G= (p.Gly1921=)
11g.121160249G>TCA383028775TBCEL-TECTA,TECTAc.4804G>T (p.Gly1602Cys)
c.2111G>T
n.740G>T
c.5761G>T (p.Gly1921Cys)
 dbSNP
11g.121160250G>ACA383028779TBCEL-TECTA,TECTAc.4805G>A (p.Gly1602Asp)
c.2112G>A
n.741G>A
c.5762G>A (p.Gly1921Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121160250G>CCA383028780TBCEL-TECTA,TECTAc.4805G>C (p.Gly1602Ala)
c.2112G>C
n.741G>C
c.5762G>C (p.Gly1921Ala)
11g.121160250G=CA2004739254TBCEL-TECTA,TECTAc.4805G= (p.Gly1602=)
c.2112G=
n.741G=
c.5762G= (p.Gly1921=)
11g.121160250G>TCA383028784TBCEL-TECTA,TECTAc.4805G>T (p.Gly1602Val)
c.2112G>T
n.741G>T
c.5762G>T (p.Gly1921Val)
 gnomAD v4
11g.121160251T>ACA477383238TBCEL-TECTA,TECTAc.4806T>A (p.Gly1602=)
c.2113T>A
n.742T>A
c.5763T>A (p.Gly1921=)
11g.121160251T>CCA477383239TBCEL-TECTA,TECTAc.4806T>C (p.Gly1602=)
c.2113T>C
n.742T>C
c.5763T>C (p.Gly1921=)
11g.121160251T>GCA477383240TBCEL-TECTA,TECTAc.4806T>G (p.Gly1602=)
c.2113T>G
n.742T>G
c.5763T>G (p.Gly1921=)
11g.121160252T>ACA383028790TBCEL-TECTA,TECTAc.4807T>A (p.Phe1603Ile)
c.2114T>A
n.743T>A
c.5764T>A (p.Phe1922Ile)
11g.121160252T>CCA383028793TBCEL-TECTA,TECTAc.4807T>C (p.Phe1603Leu)
c.2114T>C
n.743T>C
c.5764T>C (p.Phe1922Leu)
11g.121160252T>GCA383028797TBCEL-TECTA,TECTAc.4807T>G (p.Phe1603Val)
c.2114T>G
n.743T>G
c.5764T>G (p.Phe1922Val)
11g.121160253T>ACA383028800TBCEL-TECTA,TECTAc.4808T>A (p.Phe1603Tyr)
c.2115T>A
n.744T>A
c.5765T>A (p.Phe1922Tyr)
11g.121160253T>CCA383028808TBCEL-TECTA,TECTAc.4808T>C (p.Phe1603Ser)
c.2115T>C
n.744T>C
c.5765T>C (p.Phe1922Ser)
11g.121160253T>GCA383028810TBCEL-TECTA,TECTAc.4808T>G (p.Phe1603Cys)
c.2115T>G
n.744T>G
c.5765T>G (p.Phe1922Cys)
11g.121160254C>ACA383028812TBCEL-TECTA,TECTAc.4809C>A (p.Phe1603Leu)
c.2116C>A
n.745C>A
c.5766C>A (p.Phe1922Leu)
11g.121160254C>GCA383028813TBCEL-TECTA,TECTAc.4809C>G (p.Phe1603Leu)
c.2116C>G
n.745C>G
c.5766C>G (p.Phe1922Leu)
11g.121160254C>TCA477383244TBCEL-TECTA,TECTAc.4809C>T (p.Phe1603=)
c.2116C>T
n.745C>T
c.5766C>T (p.Phe1922=)
11g.121160255A=CA2004739258TBCEL-TECTA,TECTAc.4810A= (p.Asn1604=)
c.2117A=
n.746A=
c.5767A= (p.Asn1923=)
11g.121160255A>CCA383028817TBCEL-TECTA,TECTAc.4810A>C (p.Asn1604His)
c.2117A>C
n.746A>C
c.5767A>C (p.Asn1923His)
11g.121160255A>GCA383028818TBCEL-TECTA,TECTAc.4810A>G (p.Asn1604Asp)
c.2117A>G
n.746A>G
c.5767A>G (p.Asn1923Asp)
11g.121160255A>TCA6327570TBCEL-TECTA,TECTAc.4810A>T (p.Asn1604Tyr)
c.2117A>T
n.746A>T
c.5767A>T (p.Asn1923Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160256A>CCA383028825TBCEL-TECTA,TECTAc.4811A>C (p.Asn1604Thr)
c.2118A>C
n.747A>C
c.5768A>C (p.Asn1923Thr)
11g.121160256A>GCA383028834TBCEL-TECTA,TECTAc.4811A>G (p.Asn1604Ser)
c.2118A>G
n.747A>G
c.5768A>G (p.Asn1923Ser)
 gnomAD v4
11g.121160256A>TCA383028835TBCEL-TECTA,TECTAc.4811A>T (p.Asn1604Ile)
c.2118A>T
n.747A>T
c.5768A>T (p.Asn1923Ile)
11g.121160257C>ACA383028841TBCEL-TECTA,TECTAc.4812C>A (p.Asn1604Lys)
c.2119C>A
n.748C>A
c.5769C>A (p.Asn1923Lys)
 gnomAD v4
11g.121160257C=CA2004739265TBCEL-TECTA,TECTAc.4812C= (p.Asn1604=)
c.2119C=
n.748C=
c.5769C= (p.Asn1923=)
11g.121160257C>GCA383028844TBCEL-TECTA,TECTAc.4812C>G (p.Asn1604Lys)
c.2119C>G
n.748C>G
c.5769C>G (p.Asn1923Lys)
11g.121160257C>TCA6327571TBCEL-TECTA,TECTAc.4812C>T (p.Asn1604=)
c.2119C>T
n.748C>T
c.5769C>T (p.Asn1923=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121160258G>ACA6327572TBCEL-TECTA,TECTAc.4813G>A (p.Val1605Ile)
c.2120G>A
n.749G>A
c.5770G>A (p.Val1924Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121160258G>CCA383028850TBCEL-TECTA,TECTAc.4813G>C (p.Val1605Leu)
c.2120G>C
n.749G>C
c.5770G>C (p.Val1924Leu)
11g.121160258G=CA2004739272TBCEL-TECTA,TECTAc.4813G= (p.Val1605=)
c.2120G=
n.749G=
c.5770G= (p.Val1924=)
11g.121160258G>TCA383028854TBCEL-TECTA,TECTAc.4813G>T (p.Val1605Phe)
c.2120G>T
n.749G>T
c.5770G>T (p.Val1924Phe)
11g.121160259T>ACA383028864TBCEL-TECTA,TECTAc.4814T>A (p.Val1605Asp)
c.2121T>A
n.750T>A
c.5771T>A (p.Val1924Asp)
11g.121160259T>CCA383028860TBCEL-TECTA,TECTAc.4814T>C (p.Val1605Ala)
c.2121T>C
n.750T>C
c.5771T>C (p.Val1924Ala)
11g.121160259T>GCA383028857TBCEL-TECTA,TECTAc.4814T>G (p.Val1605Gly)
c.2121T>G
n.750T>G
c.5771T>G (p.Val1924Gly)
11g.121160260C>ACA477383250TBCEL-TECTA,TECTAc.4815C>A (p.Val1605=)
c.2122C>A
n.751C>A
c.5772C>A (p.Val1924=)
11g.121160260C>GCA477383248TBCEL-TECTA,TECTAc.4815C>G (p.Val1605=)
c.2122C>G
n.751C>G
c.5772C>G (p.Val1924=)
11g.121160260C>TCA477383249TBCEL-TECTA,TECTAc.4815C>T (p.Val1605=)
c.2122C>T
n.751C>T
c.5772C>T (p.Val1924=)
11g.121160261A>CCA383028868TBCEL-TECTA,TECTAc.4816A>C (p.Ile1606Leu)
c.2123A>C
n.752A>C
c.5773A>C (p.Ile1925Leu)
11g.121160261A>GCA383028875TBCEL-TECTA,TECTAc.4816A>G (p.Ile1606Val)
c.2123A>G
n.752A>G
c.5773A>G (p.Ile1925Val)
 gnomAD v4
11g.121160261A>TCA383028871TBCEL-TECTA,TECTAc.4816A>T (p.Ile1606Phe)
c.2123A>T
n.752A>T
c.5773A>T (p.Ile1925Phe)
11g.121160262T>ACA383028879TBCEL-TECTA,TECTAc.4817T>A (p.Ile1606Asn)
c.2124T>A
n.753T>A
c.5774T>A (p.Ile1925Asn)
11g.121160262T>CCA383028881TBCEL-TECTA,TECTAc.4817T>C (p.Ile1606Thr)
c.2124T>C
n.753T>C
c.5774T>C (p.Ile1925Thr)
11g.121160262T>GCA383028883TBCEL-TECTA,TECTAc.4817T>G (p.Ile1606Ser)
c.2124T>G
n.753T>G
c.5774T>G (p.Ile1925Ser)
11g.121160263T>ACA477383255TBCEL-TECTA,TECTAc.4818T>A (p.Ile1606=)
c.2125T>A
n.754T>A
c.5775T>A (p.Ile1925=)
11g.121160263T>CCA477383256TBCEL-TECTA,TECTAc.4818T>C (p.Ile1606=)
c.2125T>C
n.754T>C
c.5775T>C (p.Ile1925=)
 gnomAD v4
11g.121160263T>GCA383028885TBCEL-TECTA,TECTAc.4818T>G (p.Ile1606Met)
c.2125T>G
n.754T>G
c.5775T>G (p.Ile1925Met)

Number of alleles fetched