Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.121160264A>CCA383028887TBCEL-TECTA,TECTAc.4819A>C (p.Lys1607Gln)
c.2126A>C
n.755A>C
c.5776A>C (p.Lys1926Gln)
11g.121160264A>GCA383028890TBCEL-TECTA,TECTAc.4819A>G (p.Lys1607Glu)
c.2126A>G
n.755A>G
c.5776A>G (p.Lys1926Glu)
11g.121160264A>TCA383028892TBCEL-TECTA,TECTAc.4819A>T (p.Lys1607Ter)
c.2126A>T
n.755A>T
c.5776A>T (p.Lys1926Ter)
11g.121160265A>CCA383028895TBCEL-TECTA,TECTAc.4820A>C (p.Lys1607Thr)
c.2127A>C
n.756A>C
c.5777A>C (p.Lys1926Thr)
 COSMIC
11g.121160265A>GCA383028899TBCEL-TECTA,TECTAc.4820A>G (p.Lys1607Arg)
c.2127A>G
n.756A>G
c.5777A>G (p.Lys1926Arg)
11g.121160265A>TCA383028901TBCEL-TECTA,TECTAc.4820A>T (p.Lys1607Ile)
c.2127A>T
n.756A>T
c.5777A>T (p.Lys1926Ile)
11g.121160266A=CA2004739276TBCEL-TECTA,TECTAc.4821A= (p.Lys1607=)
c.2128A=
n.757A=
c.5778A= (p.Lys1926=)
11g.121160266A>CCA383028903TBCEL-TECTA,TECTAc.4821A>C (p.Lys1607Asn)
c.2128A>C
n.757A>C
c.5778A>C (p.Lys1926Asn)
11g.121160266A>GCA6327573TBCEL-TECTA,TECTAc.4821A>G (p.Lys1607=)
c.2128A>G
n.757A>G
c.5778A>G (p.Lys1926=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160266A>TCA383028902TBCEL-TECTA,TECTAc.4821A>T (p.Lys1607Asn)
c.2128A>T
n.757A>T
c.5778A>T (p.Lys1926Asn)
11g.121160267A>CCA383028906TBCEL-TECTA,TECTAc.4822A>C (p.Ile1608Leu)
c.2129A>C
n.758A>C
c.5779A>C (p.Ile1927Leu)
11g.121160267A>GCA383028907TBCEL-TECTA,TECTAc.4822A>G (p.Ile1608Val)
c.2129A>G
n.758A>G
c.5779A>G (p.Ile1927Val)
11g.121160267A>TCA383028909TBCEL-TECTA,TECTAc.4822A>T (p.Ile1608Phe)
c.2129A>T
n.758A>T
c.5779A>T (p.Ile1927Phe)
11g.121160268T>ACA383028912TBCEL-TECTA,TECTAc.4823T>A (p.Ile1608Asn)
c.2130T>A
n.759T>A
c.5780T>A (p.Ile1927Asn)
11g.121160268T>CCA383028930TBCEL-TECTA,TECTAc.4823T>C (p.Ile1608Thr)
c.2130T>C
n.759T>C
c.5780T>C (p.Ile1927Thr)
11g.121160268T>GCA383028934TBCEL-TECTA,TECTAc.4823T>G (p.Ile1608Ser)
c.2130T>G
n.759T>G
c.5780T>G (p.Ile1927Ser)
11g.121160269C>ACA477383263TBCEL-TECTA,TECTAc.4824C>A (p.Ile1608=)
c.2131C>A
n.760C>A
c.5781C>A (p.Ile1927=)
11g.121160269C=CA2004739280TBCEL-TECTA,TECTAc.4824C= (p.Ile1608=)
c.2131C=
n.760C=
c.5781C= (p.Ile1927=)
11g.121160269C>GCA383028938TBCEL-TECTA,TECTAc.4824C>G (p.Ile1608Met)
c.2131C>G
n.760C>G
c.5781C>G (p.Ile1927Met)
11g.121160269C>TCA6327574TBCEL-TECTA,TECTAc.4824C>T (p.Ile1608=)
c.2131C>T
n.760C>T
c.5781C>T (p.Ile1927=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160270A>CCA383028943TBCEL-TECTA,TECTAc.4825A>C (p.Ser1609Arg)
c.2132A>C
n.761A>C
c.5782A>C (p.Ser1928Arg)
11g.121160270A>GCA383028946TBCEL-TECTA,TECTAc.4825A>G (p.Ser1609Gly)
c.2132A>G
n.761A>G
c.5782A>G (p.Ser1928Gly)
11g.121160270A>TCA383028949TBCEL-TECTA,TECTAc.4825A>T (p.Ser1609Cys)
c.2132A>T
n.761A>T
c.5782A>T (p.Ser1928Cys)
11g.121160271G>ACA6327575TBCEL-TECTA,TECTAc.4826G>A (p.Ser1609Asn)
c.2133G>A
n.762G>A
c.5783G>A (p.Ser1928Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160271G>CCA383028957TBCEL-TECTA,TECTAc.4826G>C (p.Ser1609Thr)
c.2133G>C
n.762G>C
c.5783G>C (p.Ser1928Thr)
11g.121160271G=CA2004739282TBCEL-TECTA,TECTAc.4826G= (p.Ser1609=)
c.2133G=
n.762G=
c.5783G= (p.Ser1928=)
11g.121160271G>TCA383028953TBCEL-TECTA,TECTAc.4826G>T (p.Ser1609Ile)
c.2133G>T
n.762G>T
c.5783G>T (p.Ser1928Ile)
11g.121160272C>ACA383028959TBCEL-TECTA,TECTAc.4827C>A (p.Ser1609Arg)
c.2134C>A
n.763C>A
c.5784C>A (p.Ser1928Arg)
11g.121160272C>GCA383028962TBCEL-TECTA,TECTAc.4827C>G (p.Ser1609Arg)
c.2134C>G
n.763C>G
c.5784C>G (p.Ser1928Arg)
11g.121160272C>TCA477383267TBCEL-TECTA,TECTAc.4827C>T (p.Ser1609=)
c.2134C>T
n.763C>T
c.5784C>T (p.Ser1928=)
11g.121160273A>CCA383028971TBCEL-TECTA,TECTAc.4828A>C (p.Ile1610Leu)
c.2135A>C
n.764A>C
c.5785A>C (p.Ile1929Leu)
11g.121160273A>GCA383028972TBCEL-TECTA,TECTAc.4828A>G (p.Ile1610Val)
c.2135A>G
n.764A>G
c.5785A>G (p.Ile1929Val)
11g.121160273A>TCA383028977TBCEL-TECTA,TECTAc.4828A>T (p.Ile1610Phe)
c.2135A>T
n.764A>T
c.5785A>T (p.Ile1929Phe)
11g.121160274T>ACA383028982TBCEL-TECTA,TECTAc.4829T>A (p.Ile1610Asn)
c.2136T>A
n.765T>A
c.5786T>A (p.Ile1929Asn)
11g.121160274T>CCA383028984TBCEL-TECTA,TECTAc.4829T>C (p.Ile1610Thr)
c.2136T>C
n.765T>C
c.5786T>C (p.Ile1929Thr)
11g.121160274T>GCA383028989TBCEL-TECTA,TECTAc.4829T>G (p.Ile1610Ser)
c.2136T>G
n.765T>G
c.5786T>G (p.Ile1929Ser)
 gnomAD v4
11g.121160275C>ACA477383268TBCEL-TECTA,TECTAc.4830C>A (p.Ile1610=)
c.2137C>A
n.766C>A
c.5787C>A (p.Ile1929=)
11g.121160275C>GCA383028991TBCEL-TECTA,TECTAc.4830C>G (p.Ile1610Met)
c.2137C>G
n.766C>G
c.5787C>G (p.Ile1929Met)
11g.121160275C>TCA477383271TBCEL-TECTA,TECTAc.4830C>T (p.Ile1610=)
c.2137C>T
n.766C>T
c.5787C>T (p.Ile1929=)
11g.121160275_121160276delinsCACA2004739285TBCEL-TECTA,TECTAc.4830_4831delinsCA (p.Ile1610=)
c.2137_2138delinsCA
n.766_767delinsCA
c.5787_5788delinsCA (p.Ile1929=)
11g.121160276delCA6327576TBCEL-TECTA,TECTAc.4831del (p.Ser1611AlafsTer19)
c.2138del
n.767del
c.5788del (p.Ser1930AlafsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160276A=CA2004739289TBCEL-TECTA,TECTAc.4831A= (p.Ser1611=)
c.2138A=
n.767A=
c.5788A= (p.Ser1930=)
11g.121160276A>CCA383028994TBCEL-TECTA,TECTAc.4831A>C (p.Ser1611Arg)
c.2138A>C
n.767A>C
c.5788A>C (p.Ser1930Arg)
11g.121160276A>GCA383028997TBCEL-TECTA,TECTAc.4831A>G (p.Ser1611Gly)
c.2138A>G
n.767A>G
c.5788A>G (p.Ser1930Gly)
 dbSNP gnomAD v4
11g.121160276A>TCA383029002TBCEL-TECTA,TECTAc.4831A>T (p.Ser1611Cys)
c.2138A>T
n.767A>T
c.5788A>T (p.Ser1930Cys)
11g.121160277G>ACA383029013TBCEL-TECTA,TECTAc.4832G>A (p.Ser1611Asn)
c.2139G>A
n.768G>A
c.5789G>A (p.Ser1930Asn)
11g.121160277G>CCA383029010TBCEL-TECTA,TECTAc.4832G>C (p.Ser1611Thr)
c.2139G>C
n.768G>C
c.5789G>C (p.Ser1930Thr)
11g.121160277G>TCA383029008TBCEL-TECTA,TECTAc.4832G>T (p.Ser1611Ile)
c.2139G>T
n.768G>T
c.5789G>T (p.Ser1930Ile)
11g.121160278C>ACA383029017TBCEL-TECTA,TECTAc.4833C>A (p.Ser1611Arg)
c.2140C>A
n.769C>A
c.5790C>A (p.Ser1930Arg)
11g.121160278C=CA2004739294TBCEL-TECTA,TECTAc.4833C= (p.Ser1611=)
c.2140C=
n.769C=
c.5790C= (p.Ser1930=)
11g.121160278C>GCA383029021TBCEL-TECTA,TECTAc.4833C>G (p.Ser1611Arg)
c.2140C>G
n.769C>G
c.5790C>G (p.Ser1930Arg)
11g.121160278C>TCA6327577TBCEL-TECTA,TECTAc.4833C>T (p.Ser1611=)
c.2140C>T
n.769C>T
c.5790C>T (p.Ser1930=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160279G>ACA383029031TBCEL-TECTA,TECTAc.4834G>A (p.Glu1612Lys)
c.2141G>A
n.770G>A
c.5791G>A (p.Glu1931Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160279G>CCA383029035TBCEL-TECTA,TECTAc.4834G>C (p.Glu1612Gln)
c.2141G>C
n.770G>C
c.5791G>C (p.Glu1931Gln)
11g.121160279G=CA2004739299TBCEL-TECTA,TECTAc.4834G= (p.Glu1612=)
c.2141G=
n.770G=
c.5791G= (p.Glu1931=)
11g.121160279G>TCA383029039TBCEL-TECTA,TECTAc.4834G>T (p.Glu1612Ter)
c.2141G>T
n.770G>T
c.5791G>T (p.Glu1931Ter)
11g.121160282_121160283dupCA6327578TBCEL-TECTA,TECTAc.4837_4838dup (p.Leu1614GlyfsTer17)
c.2144_2145dup
n.773_774dup
c.5794_5795dup (p.Leu1933GlyfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160280A>CCA383029042TBCEL-TECTA,TECTAc.4835A>C (p.Glu1612Ala)
c.2142A>C
n.771A>C
c.5792A>C (p.Glu1931Ala)
11g.121160280A>GCA383029045TBCEL-TECTA,TECTAc.4835A>G (p.Glu1612Gly)
c.2142A>G
n.771A>G
c.5792A>G (p.Glu1931Gly)
11g.121160280A>TCA383029048TBCEL-TECTA,TECTAc.4835A>T (p.Glu1612Val)
c.2142A>T
n.771A>T
c.5792A>T (p.Glu1931Val)
11g.121160281G>ACA6327579TBCEL-TECTA,TECTAc.4836G>A (p.Glu1612=)
c.2143G>A
n.772G>A
c.5793G>A (p.Glu1931=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160281G>CCA383029054TBCEL-TECTA,TECTAc.4836G>C (p.Glu1612Asp)
c.2143G>C
n.772G>C
c.5793G>C (p.Glu1931Asp)
11g.121160281G=CA2004739301TBCEL-TECTA,TECTAc.4836G= (p.Glu1612=)
c.2143G=
n.772G=
c.5793G= (p.Glu1931=)
11g.121160281G>TCA383029059TBCEL-TECTA,TECTAc.4836G>T (p.Glu1612Asp)
c.2143G>T
n.772G>T
c.5793G>T (p.Glu1931Asp)
11g.121160282A>CCA477383274TBCEL-TECTA,TECTAc.4837A>C (p.Arg1613=)
c.2144A>C
n.773A>C
c.5794A>C (p.Arg1932=)
11g.121160282A>GCA383029065TBCEL-TECTA,TECTAc.4837A>G (p.Arg1613Gly)
c.2144A>G
n.773A>G
c.5794A>G (p.Arg1932Gly)
11g.121160282A>TCA383029062TBCEL-TECTA,TECTAc.4837A>T (p.Arg1613Trp)
c.2144A>T
n.773A>T
c.5794A>T (p.Arg1932Trp)
11g.121160283G>ACA383029067TBCEL-TECTA,TECTAc.4838G>A (p.Arg1613Lys)
c.2145G>A
n.774G>A
c.5795G>A (p.Arg1932Lys)
11g.121160283G>CCA383029072TBCEL-TECTA,TECTAc.4838G>C (p.Arg1613Thr)
c.2145G>C
n.774G>C
c.5795G>C (p.Arg1932Thr)
11g.121160283G>TCA383029070TBCEL-TECTA,TECTAc.4838G>T (p.Arg1613Met)
c.2145G>T
n.774G>T
c.5795G>T (p.Arg1932Met)
11g.121160284G>ACA477383277TBCEL-TECTA,TECTAc.4839G>A (p.Arg1613=)
c.2146G>A
n.775G>A
c.5796G>A (p.Arg1932=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160284G>CCA6327580TBCEL-TECTA,TECTAc.4839G>C (p.Arg1613Ser)
c.2146G>C
n.775G>C
c.5796G>C (p.Arg1932Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160284G=CA2004739304TBCEL-TECTA,TECTAc.4839G= (p.Arg1613=)
c.2146G=
n.775G=
c.5796G= (p.Arg1932=)
11g.121160284G>TCA383029076TBCEL-TECTA,TECTAc.4839G>T (p.Arg1613Ser)
c.2146G>T
n.775G>T
c.5796G>T (p.Arg1932Ser)
11g.121160285C>ACA383029079TBCEL-TECTA,TECTAc.4840C>A (p.Leu1614Met)
c.2147C>A
n.776C>A
c.5797C>A (p.Leu1933Met)
11g.121160285C>GCA383029081TBCEL-TECTA,TECTAc.4840C>G (p.Leu1614Val)
c.2147C>G
n.776C>G
c.5797C>G (p.Leu1933Val)
11g.121160285C>TCA477383278TBCEL-TECTA,TECTAc.4840C>T (p.Leu1614=)
c.2147C>T
n.776C>T
c.5797C>T (p.Leu1933=)
11g.121160286T>ACA383029084TBCEL-TECTA,TECTAc.4841T>A (p.Leu1614Gln)
c.2148T>A
n.777T>A
c.5798T>A (p.Leu1933Gln)
 gnomAD v4
11g.121160286T>CCA6327581TBCEL-TECTA,TECTAc.4841T>C (p.Leu1614Pro)
c.2148T>C
n.777T>C
c.5798T>C (p.Leu1933Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160286T>GCA383029089TBCEL-TECTA,TECTAc.4841T>G (p.Leu1614Arg)
c.2148T>G
n.777T>G
c.5798T>G (p.Leu1933Arg)
11g.121160286T=CA2004739307TBCEL-TECTA,TECTAc.4841T= (p.Leu1614=)
c.2148T=
n.777T=
c.5798T= (p.Leu1933=)
11g.121160287G>ACA477383279TBCEL-TECTA,TECTAc.4842G>A (p.Leu1614=)
c.2149G>A
n.778G>A
c.5799G>A (p.Leu1933=)
 dbSNP gnomAD v3 gnomAD v4
11g.121160287G>CCA6327582TBCEL-TECTA,TECTAc.4842G>C (p.Leu1614=)
c.2149G>C
n.778G>C
c.5799G>C (p.Leu1933=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160287G=CA2004739313TBCEL-TECTA,TECTAc.4842G= (p.Leu1614=)
c.2149G=
n.778G=
c.5799G= (p.Leu1933=)
11g.121160287G>TCA477383280TBCEL-TECTA,TECTAc.4842G>T (p.Leu1614=)
c.2149G>T
n.778G>T
c.5799G>T (p.Leu1933=)
11g.121160288C>ACA383029094TBCEL-TECTA,TECTAc.4843C>A (p.Gln1615Lys)
c.2150C>A
n.779C>A
c.5800C>A (p.Gln1934Lys)
 dbSNP
11g.121160288C=CA2004739317TBCEL-TECTA,TECTAc.4843C= (p.Gln1615=)
c.2150C=
n.779C=
c.5800C= (p.Gln1934=)
11g.121160288C>GCA383029097TBCEL-TECTA,TECTAc.4843C>G (p.Gln1615Glu)
c.2150C>G
n.779C>G
c.5800C>G (p.Gln1934Glu)
11g.121160288C>TCA383029100TBCEL-TECTA,TECTAc.4843C>T (p.Gln1615Ter)
c.2150C>T
n.779C>T
c.5800C>T (p.Gln1934Ter)
11g.121160289A>CCA383029103TBCEL-TECTA,TECTAc.4844A>C (p.Gln1615Pro)
c.2151A>C
n.780A>C
c.5801A>C (p.Gln1934Pro)
11g.121160289A>GCA383029111TBCEL-TECTA,TECTAc.4844A>G (p.Gln1615Arg)
c.2151A>G
n.780A>G
c.5801A>G (p.Gln1934Arg)
11g.121160289A>TCA383029113TBCEL-TECTA,TECTAc.4844A>T (p.Gln1615Leu)
c.2151A>T
n.780A>T
c.5801A>T (p.Gln1934Leu)
11g.121160290G>ACA477383284TBCEL-TECTA,TECTAc.4845G>A (p.Gln1615=)
c.2152G>A
n.781G>A
c.5802G>A (p.Gln1934=)
11g.121160290G>CCA383029115TBCEL-TECTA,TECTAc.4845G>C (p.Gln1615His)
c.2152G>C
n.781G>C
c.5802G>C (p.Gln1934His)
11g.121160290G>TCA383029117TBCEL-TECTA,TECTAc.4845G>T (p.Gln1615His)
c.2152G>T
n.781G>T
c.5802G>T (p.Gln1934His)
11g.121160291A>CCA383029125TBCEL-TECTA,TECTAc.4846A>C (p.Asn1616His)
c.2153A>C
n.782A>C
c.5803A>C (p.Asn1935His)
 ClinVar dbSNP
11g.121160291A>GCA383029121TBCEL-TECTA,TECTAc.4846A>G (p.Asn1616Asp)
c.2153A>G
n.782A>G
c.5803A>G (p.Asn1935Asp)
11g.121160291A>TCA383029124TBCEL-TECTA,TECTAc.4846A>T (p.Asn1616Tyr)
c.2153A>T
n.782A>T
c.5803A>T (p.Asn1935Tyr)
11g.121160292A>CCA383029128TBCEL-TECTA,TECTAc.4847A>C (p.Asn1616Thr)
c.2154A>C
n.783A>C
c.5804A>C (p.Asn1935Thr)
11g.121160292A>GCA383029132TBCEL-TECTA,TECTAc.4847A>G (p.Asn1616Ser)
c.2154A>G
n.783A>G
c.5804A>G (p.Asn1935Ser)
11g.121160292A>TCA383029134TBCEL-TECTA,TECTAc.4847A>T (p.Asn1616Ile)
c.2154A>T
n.783A>T
c.5804A>T (p.Asn1935Ile)
11g.121160293C>ACA6327583TBCEL-TECTA,TECTAc.4848C>A (p.Asn1616Lys)
c.2155C>A
n.784C>A
c.5805C>A (p.Asn1935Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160293C=CA2004739322TBCEL-TECTA,TECTAc.4848C= (p.Asn1616=)
c.2155C=
n.784C=
c.5805C= (p.Asn1935=)
11g.121160293C>GCA383029140TBCEL-TECTA,TECTAc.4848C>G (p.Asn1616Lys)
c.2155C>G
n.784C>G
c.5805C>G (p.Asn1935Lys)
11g.121160293C>TCA477383285TBCEL-TECTA,TECTAc.4848C>T (p.Asn1616=)
c.2155C>T
n.784C>T
c.5805C>T (p.Asn1935=)
 ClinVar dbSNP gnomAD v4
11g.121160293_121160295delinsCAACA2004739321TBCEL-TECTA,TECTAc.4848_4850delinsCAA (p.Asn1616=)
c.2155_2157delinsCAA
n.784_786delinsCAA
c.5805_5807delinsCAA (p.Asn1935=)
11g.121160294A=CA2004739328TBCEL-TECTA,TECTAc.4849A= (p.Lys1617=)
c.2156A=
n.785A=
c.5806A= (p.Lys1936=)
11g.121160294A>CCA383029144TBCEL-TECTA,TECTAc.4849A>C (p.Lys1617Gln)
c.2156A>C
n.785A>C
c.5806A>C (p.Lys1936Gln)
11g.121160294A>GCA6327585TBCEL-TECTA,TECTAc.4849A>G (p.Lys1617Glu)
c.2156A>G
n.785A>G
c.5806A>G (p.Lys1936Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160294A>TCA383029151TBCEL-TECTA,TECTAc.4849A>T (p.Lys1617Ter)
c.2156A>T
n.785A>T
c.5806A>T (p.Lys1936Ter)
11g.121160295_121160296delCA6327584TBCEL-TECTA,TECTAc.4850_4851del (p.Lys1617SerfsTer15)
c.2157_2158del
n.786_787del
c.5807_5808del (p.Lys1936SerfsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160295A>CCA383029156TBCEL-TECTA,TECTAc.4850A>C (p.Lys1617Thr)
c.2157A>C
n.786A>C
c.5807A>C (p.Lys1936Thr)
11g.121160295A>GCA383029167TBCEL-TECTA,TECTAc.4850A>G (p.Lys1617Arg)
c.2157A>G
n.786A>G
c.5807A>G (p.Lys1936Arg)
11g.121160295A>TCA383029171TBCEL-TECTA,TECTAc.4850A>T (p.Lys1617Ile)
c.2157A>T
n.786A>T
c.5807A>T (p.Lys1936Ile)
11g.121160296A>CCA383029176TBCEL-TECTA,TECTAc.4851A>C (p.Lys1617Asn)
c.2158A>C
n.787A>C
c.5808A>C (p.Lys1936Asn)
11g.121160296A>GCA477383286TBCEL-TECTA,TECTAc.4851A>G (p.Lys1617=)
c.2158A>G
n.787A>G
c.5808A>G (p.Lys1936=)
11g.121160296A>TCA383029192TBCEL-TECTA,TECTAc.4851A>T (p.Lys1617Asn)
c.2158A>T
n.787A>T
c.5808A>T (p.Lys1936Asn)
11g.121160297G>ACA383029196TBCEL-TECTA,TECTAc.4852G>A (p.Val1618Met)
c.2159G>A
n.788G>A
c.5809G>A (p.Val1937Met)
 ClinVar gnomAD v4
11g.121160297G>CCA383029198TBCEL-TECTA,TECTAc.4852G>C (p.Val1618Leu)
c.2159G>C
n.788G>C
c.5809G>C (p.Val1937Leu)
11g.121160297G>TCA383029202TBCEL-TECTA,TECTAc.4852G>T (p.Val1618Leu)
c.2159G>T
n.788G>T
c.5809G>T (p.Val1937Leu)
 COSMIC
11g.121160298T>ACA383029212TBCEL-TECTA,TECTAc.4853T>A (p.Val1618Glu)
c.2160T>A
n.789T>A
c.5810T>A (p.Val1937Glu)
11g.121160298T>CCA6327586TBCEL-TECTA,TECTAc.4853T>C (p.Val1618Ala)
c.2160T>C
n.789T>C
c.5810T>C (p.Val1937Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160298T>GCA383029215TBCEL-TECTA,TECTAc.4853T>G (p.Val1618Gly)
c.2160T>G
n.789T>G
c.5810T>G (p.Val1937Gly)
11g.121160298T=CA2004739333TBCEL-TECTA,TECTAc.4853T= (p.Val1618=)
c.2160T=
n.789T=
c.5810T= (p.Val1937=)
11g.121160299G>ACA477383337TBCEL-TECTA,TECTAc.4854G>A (p.Val1618=)
c.2161G>A
n.790G>A
c.5811G>A (p.Val1937=)
 gnomAD v4
11g.121160299G>CCA477383338TBCEL-TECTA,TECTAc.4854G>C (p.Val1618=)
c.2161G>C
n.790G>C
c.5811G>C (p.Val1937=)
11g.121160299G=CA2004739336TBCEL-TECTA,TECTAc.4854G= (p.Val1618=)
c.2161G=
n.790G=
c.5811G= (p.Val1937=)
11g.121160299G>TCA477383340TBCEL-TECTA,TECTAc.4854G>T (p.Val1618=)
c.2161G>T
n.790G>T
c.5811G>T (p.Val1937=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121160300T>ACA383029219TBCEL-TECTA,TECTAc.4855T>A (p.Cys1619Ser)
c.2162T>A
n.791T>A
c.5812T>A (p.Cys1938Ser)
11g.121160300T>CCA383029222TBCEL-TECTA,TECTAc.4855T>C (p.Cys1619Arg)
c.2162T>C
n.791T>C
c.5812T>C (p.Cys1938Arg)
11g.121160300T>GCA6327587TBCEL-TECTA,TECTAc.4855T>G (p.Cys1619Gly)
c.2162T>G
n.791T>G
c.5812T>G (p.Cys1938Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160300T=CA2004739339TBCEL-TECTA,TECTAc.4855T= (p.Cys1619=)
c.2162T=
n.791T=
c.5812T= (p.Cys1938=)
11g.121160301G>ACA383029233TBCEL-TECTA,TECTAc.4856G>A (p.Cys1619Tyr)
c.2163G>A
n.792G>A
c.5813G>A (p.Cys1938Tyr)
11g.121160301G>CCA254068TBCEL-TECTA,TECTAc.4856G>C (p.Cys1619Ser)
c.2163G>C
n.792G>C
c.5813G>C (p.Cys1938Ser)
 ClinVar dbSNP
11g.121160301G=CA2004739343TBCEL-TECTA,TECTAc.4856G= (p.Cys1619=)
c.2163G=
n.792G=
c.5813G= (p.Cys1938=)
11g.121160301G>TCA383029242TBCEL-TECTA,TECTAc.4856G>T (p.Cys1619Phe)
c.2163G>T
n.792G>T
c.5813G>T (p.Cys1938Phe)
11g.121160302C>ACA16609574TBCEL-TECTA,TECTAc.4857C>A (p.Cys1619Ter)
c.2164C>A
n.793C>A
c.5814C>A (p.Cys1938Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.121160302C=CA2004739351TBCEL-TECTA,TECTAc.4857C= (p.Cys1619=)
c.2164C=
n.793C=
c.5814C= (p.Cys1938=)
11g.121160302C>GCA383029243TBCEL-TECTA,TECTAc.4857C>G (p.Cys1619Trp)
c.2164C>G
n.793C>G
c.5814C>G (p.Cys1938Trp)
11g.121160302C>TCA6327588TBCEL-TECTA,TECTAc.4857C>T (p.Cys1619=)
c.2164C>T
n.793C>T
c.5814C>T (p.Cys1938=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121160303G>ACA6327589TBCEL-TECTA,TECTAc.4858G>A (p.Gly1620Ser)
c.2165G>A
n.794G>A
c.5815G>A (p.Gly1939Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160303G>CCA383029246TBCEL-TECTA,TECTAc.4858G>C (p.Gly1620Arg)
c.2165G>C
n.794G>C
c.5815G>C (p.Gly1939Arg)
11g.121160303G=CA2004739359TBCEL-TECTA,TECTAc.4858G= (p.Gly1620=)
c.2165G=
n.794G=
c.5815G= (p.Gly1939=)
11g.121160303G>TCA383029247TBCEL-TECTA,TECTAc.4858G>T (p.Gly1620Cys)
c.2165G>T
n.794G>T
c.5815G>T (p.Gly1939Cys)
11g.121160304G>ACA383029251TBCEL-TECTA,TECTAc.4859G>A (p.Gly1620Asp)
c.2166G>A
n.795G>A
c.5816G>A (p.Gly1939Asp)
 gnomAD v4
11g.121160304G>CCA383029252TBCEL-TECTA,TECTAc.4859G>C (p.Gly1620Ala)
c.2166G>C
n.795G>C
c.5816G>C (p.Gly1939Ala)
11g.121160304G>TCA383029253TBCEL-TECTA,TECTAc.4859G>T (p.Gly1620Val)
c.2166G>T
n.795G>T
c.5816G>T (p.Gly1939Val)
11g.121160305T>ACA477383345TBCEL-TECTA,TECTAc.4860T>A (p.Gly1620=)
c.2167T>A
n.796T>A
c.5817T>A (p.Gly1939=)
11g.121160305T>CCA477383346TBCEL-TECTA,TECTAc.4860T>C (p.Gly1620=)
c.2167T>C
n.796T>C
c.5817T>C (p.Gly1939=)
 dbSNP gnomAD v3 gnomAD v4
11g.121160305T>GCA477383347TBCEL-TECTA,TECTAc.4860T>G (p.Gly1620=)
c.2167T>G
n.796T>G
c.5817T>G (p.Gly1939=)
11g.121160305T=CA2004739363TBCEL-TECTA,TECTAc.4860T= (p.Gly1620=)
c.2167T=
n.796T=
c.5817T= (p.Gly1939=)
11g.121160306C>ACA383029254TBCEL-TECTA,TECTAc.4861C>A (p.Leu1621Ile)
c.2168C>A
n.797C>A
c.5818C>A (p.Leu1940Ile)
11g.121160306C=CA2004739367TBCEL-TECTA,TECTAc.4861C= (p.Leu1621=)
c.2168C=
n.797C=
c.5818C= (p.Leu1940=)
11g.121160306C>GCA383029255TBCEL-TECTA,TECTAc.4861C>G (p.Leu1621Val)
c.2168C>G
n.797C>G
c.5818C>G (p.Leu1940Val)
 dbSNP gnomAD v3 gnomAD v4
11g.121160306C>TCA383029257TBCEL-TECTA,TECTAc.4861C>T (p.Leu1621Phe)
c.2168C>T
n.797C>T
c.5818C>T (p.Leu1940Phe)
11g.121160307T>ACA383029260TBCEL-TECTA,TECTAc.4862T>A (p.Leu1621His)
c.2169T>A
n.798T>A
c.5819T>A (p.Leu1940His)
11g.121160307T>CCA383029264TBCEL-TECTA,TECTAc.4862T>C (p.Leu1621Pro)
c.2169T>C
n.798T>C
c.5819T>C (p.Leu1940Pro)
11g.121160307T>GCA383029266TBCEL-TECTA,TECTAc.4862T>G (p.Leu1621Arg)
c.2169T>G
n.798T>G
c.5819T>G (p.Leu1940Arg)
11g.121160308C>ACA477383348TBCEL-TECTA,TECTAc.4863C>A (p.Leu1621=)
c.2170C>A
n.799C>A
c.5820C>A (p.Leu1940=)
11g.121160308C>GCA477383349TBCEL-TECTA,TECTAc.4863C>G (p.Leu1621=)
c.2170C>G
n.799C>G
c.5820C>G (p.Leu1940=)
11g.121160308C>TCA477383350TBCEL-TECTA,TECTAc.4863C>T (p.Leu1621=)
c.2170C>T
n.799C>T
c.5820C>T (p.Leu1940=)

Number of alleles fetched