Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27206662T>ACA464168221TEKc.2445T>A (p.Ile815=)
c.2316T>A (p.Ile772=)
c.2001T>A (p.Ile667=)
c.*946T>A (n.*946T>A)
c.2442T>A (p.Ile814=)
c.2313T>A (p.Ile771=)
9g.27206662T>CCA464168222TEKc.2445T>C (p.Ile815=)
c.2316T>C (p.Ile772=)
c.2001T>C (p.Ile667=)
c.*946T>C (n.*946T>C)
c.2442T>C (p.Ile814=)
c.2313T>C (p.Ile771=)
dbSNP
9g.27206662T>GCA373120205TEKc.2445T>G (p.Ile815Met)
c.2316T>G (p.Ile772Met)
c.2001T>G (p.Ile667Met)
c.*946T>G (n.*946T>G)
c.2442T>G (p.Ile814Met)
c.2313T>G (p.Ile771Met)
9g.27206663T>ACA373120208TEKc.2446T>A (p.Tyr816Asn)
c.2317T>A (p.Tyr773Asn)
c.2002T>A (p.Tyr668Asn)
c.*947T>A (n.*947T>A)
c.2443T>A (p.Tyr815Asn)
c.2314T>A (p.Tyr772Asn)
9g.27206663T>CCA373120215TEKc.2446T>C (p.Tyr816His)
c.2317T>C (p.Tyr773His)
c.2002T>C (p.Tyr668His)
c.*947T>C (n.*947T>C)
c.2443T>C (p.Tyr815His)
c.2314T>C (p.Tyr772His)
9g.27206663T>GCA373120213TEKc.2446T>G (p.Tyr816Asp)
c.2317T>G (p.Tyr773Asp)
c.2002T>G (p.Tyr668Asp)
c.*947T>G (n.*947T>G)
c.2443T>G (p.Tyr815Asp)
c.2314T>G (p.Tyr772Asp)
9g.27206664A>CCA373120217TEKc.2447A>C (p.Tyr816Ser)
c.2318A>C (p.Tyr773Ser)
c.2003A>C (p.Tyr668Ser)
c.*948A>C (n.*948A>C)
c.2444A>C (p.Tyr815Ser)
c.2315A>C (p.Tyr772Ser)
9g.27206664A>GCA373120221TEKc.2447A>G (p.Tyr816Cys)
c.2318A>G (p.Tyr773Cys)
c.2003A>G (p.Tyr668Cys)
c.*948A>G (n.*948A>G)
c.2444A>G (p.Tyr815Cys)
c.2315A>G (p.Tyr772Cys)
9g.27206664A>TCA373120220TEKc.2447A>T (p.Tyr816Phe)
c.2318A>T (p.Tyr773Phe)
c.2003A>T (p.Tyr668Phe)
c.*948A>T (n.*948A>T)
c.2444A>T (p.Tyr815Phe)
c.2315A>T (p.Tyr772Phe)
9g.27206665T>ACA373120224TEKc.2448T>A (p.Tyr816Ter)
c.2319T>A (p.Tyr773Ter)
c.2004T>A (p.Tyr668Ter)
c.*949T>A (n.*949T>A)
c.2445T>A (p.Tyr815Ter)
c.2316T>A (p.Tyr772Ter)
9g.27206665T>CCA464168226TEKc.2448T>C (p.Tyr816=)
c.2319T>C (p.Tyr773=)
c.2004T>C (p.Tyr668=)
c.*949T>C (n.*949T>C)
c.2445T>C (p.Tyr815=)
c.2316T>C (p.Tyr772=)
9g.27206665T>GCA373120225TEKc.2448T>G (p.Tyr816Ter)
c.2319T>G (p.Tyr773Ter)
c.2004T>G (p.Tyr668Ter)
c.*949T>G (n.*949T>G)
c.2445T>G (p.Tyr815Ter)
c.2316T>G (p.Tyr772Ter)
9g.27206666C>ACA373120229TEKc.2449C>A (p.Pro817Thr)
c.2320C>A (p.Pro774Thr)
c.2005C>A (p.Pro669Thr)
c.*950C>A (n.*950C>A)
c.2446C>A (p.Pro816Thr)
c.2317C>A (p.Pro773Thr)
9g.27206666C>GCA373120230TEKc.2449C>G (p.Pro817Ala)
c.2320C>G (p.Pro774Ala)
c.2005C>G (p.Pro669Ala)
c.*950C>G (n.*950C>G)
c.2446C>G (p.Pro816Ala)
c.2317C>G (p.Pro773Ala)
gnomAD v4
9g.27206666C>TCA373120231TEKc.2449C>T (p.Pro817Ser)
c.2320C>T (p.Pro774Ser)
c.2005C>T (p.Pro669Ser)
c.*950C>T (n.*950C>T)
c.2446C>T (p.Pro816Ser)
c.2317C>T (p.Pro773Ser)
gnomAD v4 COSMIC COSMIC
9g.27206667C>ACA373120243TEKc.2450C>A (p.Pro817Gln)
c.2321C>A (p.Pro774Gln)
c.2006C>A (p.Pro669Gln)
c.*951C>A (n.*951C>A)
c.2447C>A (p.Pro816Gln)
c.2318C>A (p.Pro773Gln)
9g.27206667C>GCA373120257TEKc.2450C>G (p.Pro817Arg)
c.2321C>G (p.Pro774Arg)
c.2006C>G (p.Pro669Arg)
c.*951C>G (n.*951C>G)
c.2447C>G (p.Pro816Arg)
c.2318C>G (p.Pro773Arg)
9g.27206667C>TCA373120262TEKc.2450C>T (p.Pro817Leu)
c.2321C>T (p.Pro774Leu)
c.2006C>T (p.Pro669Leu)
c.*951C>T (n.*951C>T)
c.2447C>T (p.Pro816Leu)
c.2318C>T (p.Pro773Leu)
gnomAD v4
9g.27206668A>CCA464168231TEKc.2451A>C (p.Pro817=)
c.2322A>C (p.Pro774=)
c.2007A>C (p.Pro669=)
c.*952A>C (n.*952A>C)
c.2448A>C (p.Pro816=)
c.2319A>C (p.Pro773=)
9g.27206668A>GCA464168230TEKc.2451A>G (p.Pro817=)
c.2322A>G (p.Pro774=)
c.2007A>G (p.Pro669=)
c.*952A>G (n.*952A>G)
c.2448A>G (p.Pro816=)
c.2319A>G (p.Pro773=)
9g.27206668A>TCA464168229TEKc.2451A>T (p.Pro817=)
c.2322A>T (p.Pro774=)
c.2007A>T (p.Pro669=)
c.*952A>T (n.*952A>T)
c.2448A>T (p.Pro816=)
c.2319A>T (p.Pro773=)
9g.27206669G>ACA373120264TEKc.2452G>A (p.Val818Met)
c.2323G>A (p.Val775Met)
c.2008G>A (p.Val670Met)
c.*953G>A (n.*953G>A)
c.2449G>A (p.Val817Met)
c.2320G>A (p.Val774Met)
9g.27206669G>CCA373120266TEKc.2452G>C (p.Val818Leu)
c.2323G>C (p.Val775Leu)
c.2008G>C (p.Val670Leu)
c.*953G>C (n.*953G>C)
c.2449G>C (p.Val817Leu)
c.2320G>C (p.Val774Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27206669G=CA1842005362TEKc.2452G= (p.Val818=)
c.2323G= (p.Val775=)
c.2008G= (p.Val670=)
c.*953G= (n.*953G=)
c.2449G= (p.Val817=)
c.2320G= (p.Val774=)
9g.27206669G>TCA373120274TEKc.2452G>T (p.Val818Leu)
c.2323G>T (p.Val775Leu)
c.2008G>T (p.Val670Leu)
c.*953G>T (n.*953G>T)
c.2449G>T (p.Val817Leu)
c.2320G>T (p.Val774Leu)
gnomAD v4
9g.27206670T>ACA373120286TEKc.2453T>A (p.Val818Glu)
c.2324T>A (p.Val775Glu)
c.2009T>A (p.Val670Glu)
c.*954T>A (n.*954T>A)
c.2450T>A (p.Val817Glu)
c.2321T>A (p.Val774Glu)
9g.27206670T>CCA373120279TEKc.2453T>C (p.Val818Ala)
c.2324T>C (p.Val775Ala)
c.2009T>C (p.Val670Ala)
c.*954T>C (n.*954T>C)
c.2450T>C (p.Val817Ala)
c.2321T>C (p.Val774Ala)
9g.27206670T>GCA373120285TEKc.2453T>G (p.Val818Gly)
c.2324T>G (p.Val775Gly)
c.2009T>G (p.Val670Gly)
c.*954T>G (n.*954T>G)
c.2450T>G (p.Val817Gly)
c.2321T>G (p.Val774Gly)
9g.27206671G>ACA464168234TEKc.2454G>A (p.Val818=)
c.2325G>A (p.Val775=)
c.2010G>A (p.Val670=)
c.*955G>A (n.*955G>A)
c.2451G>A (p.Val817=)
c.2322G>A (p.Val774=)
9g.27206671G>CCA5016503TEKc.2454G>C (p.Val818=)
c.2325G>C (p.Val775=)
c.2010G>C (p.Val670=)
c.*955G>C (n.*955G>C)
c.2451G>C (p.Val817=)
c.2322G>C (p.Val774=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27206671G=CA1842005363TEKc.2454G= (p.Val818=)
c.2325G= (p.Val775=)
c.2010G= (p.Val670=)
c.*955G= (n.*955G=)
c.2451G= (p.Val817=)
c.2322G= (p.Val774=)
9g.27206671G>TCA464168235TEKc.2454G>T (p.Val818=)
c.2325G>T (p.Val775=)
c.2010G>T (p.Val670=)
c.*955G>T (n.*955G>T)
c.2451G>T (p.Val817=)
c.2322G>T (p.Val774=)
gnomAD v4
9g.27206672C>ACA373120289TEKc.2455C>A (p.Leu819Ile)
c.2326C>A (p.Leu776Ile)
c.2011C>A (p.Leu671Ile)
c.*956C>A (n.*956C>A)
c.2452C>A (p.Leu818Ile)
c.2323C>A (p.Leu775Ile)
9g.27206672C>GCA373120290TEKc.2455C>G (p.Leu819Val)
c.2326C>G (p.Leu776Val)
c.2011C>G (p.Leu671Val)
c.*956C>G (n.*956C>G)
c.2452C>G (p.Leu818Val)
c.2323C>G (p.Leu775Val)
9g.27206672C>TCA373120291TEKc.2455C>T (p.Leu819Phe)
c.2326C>T (p.Leu776Phe)
c.2011C>T (p.Leu671Phe)
c.*956C>T (n.*956C>T)
c.2452C>T (p.Leu818Phe)
c.2323C>T (p.Leu775Phe)
9g.27206673T>ACA373120292TEKc.2456T>A (p.Leu819His)
c.2327T>A (p.Leu776His)
c.2012T>A (p.Leu671His)
c.*957T>A (n.*957T>A)
c.2453T>A (p.Leu818His)
c.2324T>A (p.Leu775His)
9g.27206673T>CCA373120293TEKc.2456T>C (p.Leu819Pro)
c.2327T>C (p.Leu776Pro)
c.2012T>C (p.Leu671Pro)
c.*957T>C (n.*957T>C)
c.2453T>C (p.Leu818Pro)
c.2324T>C (p.Leu775Pro)
COSMIC COSMIC
9g.27206673T>GCA373120297TEKc.2456T>G (p.Leu819Arg)
c.2327T>G (p.Leu776Arg)
c.2012T>G (p.Leu671Arg)
c.*957T>G (n.*957T>G)
c.2453T>G (p.Leu818Arg)
c.2324T>G (p.Leu775Arg)
COSMIC COSMIC
9g.27206674T>ACA464168240TEKc.2457T>A (p.Leu819=)
c.2328T>A (p.Leu776=)
c.2013T>A (p.Leu671=)
c.*958T>A (n.*958T>A)
c.2454T>A (p.Leu818=)
c.2325T>A (p.Leu775=)
9g.27206674T>CCA464168241TEKc.2457T>C (p.Leu819=)
c.2328T>C (p.Leu776=)
c.2013T>C (p.Leu671=)
c.*958T>C (n.*958T>C)
c.2454T>C (p.Leu818=)
c.2325T>C (p.Leu775=)
9g.27206674T>GCA464168242TEKc.2457T>G (p.Leu819=)
c.2328T>G (p.Leu776=)
c.2013T>G (p.Leu671=)
c.*958T>G (n.*958T>G)
c.2454T>G (p.Leu818=)
c.2325T>G (p.Leu775=)
9g.27206675G>ACA373120298TEKc.2458G>A (p.Asp820Asn)
c.2329G>A (p.Asp777Asn)
c.2014G>A (p.Asp672Asn)
c.*959G>A (n.*959G>A)
c.2455G>A (p.Asp819Asn)
c.2326G>A (p.Asp776Asn)
9g.27206675G>CCA191302008TEKc.2458G>C (p.Asp820His)
c.2329G>C (p.Asp777His)
c.2014G>C (p.Asp672His)
c.*959G>C (n.*959G>C)
c.2455G>C (p.Asp819His)
c.2326G>C (p.Asp776His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27206675G=CA1842005364TEKc.2458G= (p.Asp820=)
c.2329G= (p.Asp777=)
c.2014G= (p.Asp672=)
c.*959G= (n.*959G=)
c.2455G= (p.Asp819=)
c.2326G= (p.Asp776=)
9g.27206675G>TCA373120302TEKc.2458G>T (p.Asp820Tyr)
c.2329G>T (p.Asp777Tyr)
c.2014G>T (p.Asp672Tyr)
c.*959G>T (n.*959G>T)
c.2455G>T (p.Asp819Tyr)
c.2326G>T (p.Asp776Tyr)
gnomAD v4
9g.27206676A>CCA373120309TEKc.2459A>C (p.Asp820Ala)
c.2330A>C (p.Asp777Ala)
c.2015A>C (p.Asp672Ala)
c.*960A>C (n.*960A>C)
c.2456A>C (p.Asp819Ala)
c.2327A>C (p.Asp776Ala)
9g.27206676A>GCA373120332TEKc.2459A>G (p.Asp820Gly)
c.2330A>G (p.Asp777Gly)
c.2015A>G (p.Asp672Gly)
c.*960A>G (n.*960A>G)
c.2456A>G (p.Asp819Gly)
c.2327A>G (p.Asp776Gly)
9g.27206676A>TCA373120305TEKc.2459A>T (p.Asp820Val)
c.2330A>T (p.Asp777Val)
c.2015A>T (p.Asp672Val)
c.*960A>T (n.*960A>T)
c.2456A>T (p.Asp819Val)
c.2327A>T (p.Asp776Val)
9g.27206677C>ACA373120334TEKc.2460C>A (p.Asp820Glu)
c.2331C>A (p.Asp777Glu)
c.2016C>A (p.Asp672Glu)
c.*961C>A (n.*961C>A)
c.2457C>A (p.Asp819Glu)
c.2328C>A (p.Asp776Glu)
9g.27206677C>GCA373120339TEKc.2460C>G (p.Asp820Glu)
c.2331C>G (p.Asp777Glu)
c.2016C>G (p.Asp672Glu)
c.*961C>G (n.*961C>G)
c.2457C>G (p.Asp819Glu)
c.2328C>G (p.Asp776Glu)
gnomAD v4
9g.27206677C>TCA464168247TEKc.2460C>T (p.Asp820=)
c.2331C>T (p.Asp777=)
c.2016C>T (p.Asp672=)
c.*961C>T (n.*961C>T)
c.2457C>T (p.Asp819=)
c.2328C>T (p.Asp776=)
COSMIC COSMIC
9g.27206678T>ACA373120343TEKc.2461T>A (p.Trp821Arg)
c.2332T>A (p.Trp778Arg)
c.2017T>A (p.Trp673Arg)
c.*962T>A (n.*962T>A)
c.2458T>A (p.Trp820Arg)
c.2329T>A (p.Trp777Arg)
9g.27206678T>CCA373120348TEKc.2461T>C (p.Trp821Arg)
c.2332T>C (p.Trp778Arg)
c.2017T>C (p.Trp673Arg)
c.*962T>C (n.*962T>C)
c.2458T>C (p.Trp820Arg)
c.2329T>C (p.Trp777Arg)
9g.27206678T>GCA373120351TEKc.2461T>G (p.Trp821Gly)
c.2332T>G (p.Trp778Gly)
c.2017T>G (p.Trp673Gly)
c.*962T>G (n.*962T>G)
c.2458T>G (p.Trp820Gly)
c.2329T>G (p.Trp777Gly)
9g.27206679G>ACA373120354TEKc.2462G>A (p.Trp821Ter)
c.2333G>A (p.Trp778Ter)
c.2018G>A (p.Trp673Ter)
c.*963G>A (n.*963G>A)
c.2459G>A (p.Trp820Ter)
c.2330G>A (p.Trp777Ter)
9g.27206679G>CCA373120355TEKc.2462G>C (p.Trp821Ser)
c.2333G>C (p.Trp778Ser)
c.2018G>C (p.Trp673Ser)
c.*963G>C (n.*963G>C)
c.2459G>C (p.Trp820Ser)
c.2330G>C (p.Trp777Ser)
9g.27206679G>TCA373120358TEKc.2462G>T (p.Trp821Leu)
c.2333G>T (p.Trp778Leu)
c.2018G>T (p.Trp673Leu)
c.*963G>T (n.*963G>T)
c.2459G>T (p.Trp820Leu)
c.2330G>T (p.Trp777Leu)
9g.27206680G>ACA373120361TEKc.2463G>A (p.Trp821Ter)
c.2334G>A (p.Trp778Ter)
c.2019G>A (p.Trp673Ter)
c.*964G>A (n.*964G>A)
c.2460G>A (p.Trp820Ter)
c.2331G>A (p.Trp777Ter)
COSMIC COSMIC
9g.27206680G>CCA373120366TEKc.2463G>C (p.Trp821Cys)
c.2334G>C (p.Trp778Cys)
c.2019G>C (p.Trp673Cys)
c.*964G>C (n.*964G>C)
c.2460G>C (p.Trp820Cys)
c.2331G>C (p.Trp777Cys)
9g.27206680G>TCA373120369TEKc.2463G>T (p.Trp821Cys)
c.2334G>T (p.Trp778Cys)
c.2019G>T (p.Trp673Cys)
c.*964G>T (n.*964G>T)
c.2460G>T (p.Trp820Cys)
c.2331G>T (p.Trp777Cys)
9g.27206681A=CA1842005365TEKc.2464A= (p.Asn822=)
c.2335A= (p.Asn779=)
c.2020A= (p.Asn674=)
c.*965A= (n.*965A=)
c.2461A= (p.Asn821=)
c.2332A= (p.Asn778=)
9g.27206681A>CCA373120379TEKc.2464A>C (p.Asn822His)
c.2335A>C (p.Asn779His)
c.2020A>C (p.Asn674His)
c.*965A>C (n.*965A>C)
c.2461A>C (p.Asn821His)
c.2332A>C (p.Asn778His)
9g.27206681A>GCA191302013TEKc.2464A>G (p.Asn822Asp)
c.2335A>G (p.Asn779Asp)
c.2020A>G (p.Asn674Asp)
c.*965A>G (n.*965A>G)
c.2461A>G (p.Asn821Asp)
c.2332A>G (p.Asn778Asp)
dbSNP gnomAD v4
9g.27206681A>TCA373120375TEKc.2464A>T (p.Asn822Tyr)
c.2335A>T (p.Asn779Tyr)
c.2020A>T (p.Asn674Tyr)
c.*965A>T (n.*965A>T)
c.2461A>T (p.Asn821Tyr)
c.2332A>T (p.Asn778Tyr)
9g.27206682A>CCA373120384TEKc.2465A>C (p.Asn822Thr)
c.2336A>C (p.Asn779Thr)
c.2021A>C (p.Asn674Thr)
c.*966A>C (n.*966A>C)
c.2462A>C (p.Asn821Thr)
c.2333A>C (p.Asn778Thr)
9g.27206682A>GCA373120386TEKc.2465A>G (p.Asn822Ser)
c.2336A>G (p.Asn779Ser)
c.2021A>G (p.Asn674Ser)
c.*966A>G (n.*966A>G)
c.2462A>G (p.Asn821Ser)
c.2333A>G (p.Asn778Ser)
9g.27206682A>TCA373120390TEKc.2465A>T (p.Asn822Ile)
c.2336A>T (p.Asn779Ile)
c.2021A>T (p.Asn674Ile)
c.*966A>T (n.*966A>T)
c.2462A>T (p.Asn821Ile)
c.2333A>T (p.Asn778Ile)
9g.27206683T>ACA373120394TEKc.2466T>A (p.Asn822Lys)
c.2337T>A (p.Asn779Lys)
c.2022T>A (p.Asn674Lys)
c.*967T>A (n.*967T>A)
c.2463T>A (p.Asn821Lys)
c.2334T>A (p.Asn778Lys)
dbSNP gnomAD v3 gnomAD v4
9g.27206683T>CCA464168250TEKc.2466T>C (p.Asn822=)
c.2337T>C (p.Asn779=)
c.2022T>C (p.Asn674=)
c.*967T>C (n.*967T>C)
c.2463T>C (p.Asn821=)
c.2334T>C (p.Asn778=)
9g.27206683T>GCA373120403TEKc.2466T>G (p.Asn822Lys)
c.2337T>G (p.Asn779Lys)
c.2022T>G (p.Asn674Lys)
c.*967T>G (n.*967T>G)
c.2463T>G (p.Asn821Lys)
c.2334T>G (p.Asn778Lys)
9g.27206684G>ACA373120411TEKc.2467G>A (p.Asp823Asn)
c.2338G>A (p.Asp780Asn)
c.2023G>A (p.Asp675Asn)
c.*968G>A (n.*968G>A)
c.2464G>A (p.Asp822Asn)
c.2335G>A (p.Asp779Asn)
9g.27206684G>CCA373120408TEKc.2467G>C (p.Asp823His)
c.2338G>C (p.Asp780His)
c.2023G>C (p.Asp675His)
c.*968G>C (n.*968G>C)
c.2464G>C (p.Asp822His)
c.2335G>C (p.Asp779His)
9g.27206684G>TCA373120410TEKc.2467G>T (p.Asp823Tyr)
c.2338G>T (p.Asp780Tyr)
c.2023G>T (p.Asp675Tyr)
c.*968G>T (n.*968G>T)
c.2464G>T (p.Asp822Tyr)
c.2335G>T (p.Asp779Tyr)
gnomAD v4
9g.27206685A>CCA373120412TEKc.2468A>C (p.Asp823Ala)
c.2339A>C (p.Asp780Ala)
c.2024A>C (p.Asp675Ala)
c.*969A>C (n.*969A>C)
c.2465A>C (p.Asp822Ala)
c.2336A>C (p.Asp779Ala)
9g.27206685A>GCA373120415TEKc.2468A>G (p.Asp823Gly)
c.2339A>G (p.Asp780Gly)
c.2024A>G (p.Asp675Gly)
c.*969A>G (n.*969A>G)
c.2465A>G (p.Asp822Gly)
c.2336A>G (p.Asp779Gly)
9g.27206685A>TCA373120418TEKc.2468A>T (p.Asp823Val)
c.2339A>T (p.Asp780Val)
c.2024A>T (p.Asp675Val)
c.*969A>T (n.*969A>T)
c.2465A>T (p.Asp822Val)
c.2336A>T (p.Asp779Val)
9g.27206686C>ACA373120420TEKc.2469C>A (p.Asp823Glu)
c.2340C>A (p.Asp780Glu)
c.2025C>A (p.Asp675Glu)
c.*970C>A (n.*970C>A)
c.2466C>A (p.Asp822Glu)
c.2337C>A (p.Asp779Glu)
9g.27206686C>GCA373120421TEKc.2469C>G (p.Asp823Glu)
c.2340C>G (p.Asp780Glu)
c.2025C>G (p.Asp675Glu)
c.*970C>G (n.*970C>G)
c.2466C>G (p.Asp822Glu)
c.2337C>G (p.Asp779Glu)
9g.27206686C>TCA464168252TEKc.2469C>T (p.Asp823=)
c.2340C>T (p.Asp780=)
c.2025C>T (p.Asp675=)
c.*970C>T (n.*970C>T)
c.2466C>T (p.Asp822=)
c.2337C>T (p.Asp779=)
gnomAD v4
9g.27206687A>CCA373120440TEKc.2470A>C (p.Ile824Leu)
c.2341A>C (p.Ile781Leu)
c.2026A>C (p.Ile676Leu)
c.*971A>C (n.*971A>C)
c.2467A>C (p.Ile823Leu)
c.2338A>C (p.Ile780Leu)
9g.27206687A>GCA373120436TEKc.2470A>G (p.Ile824Val)
c.2341A>G (p.Ile781Val)
c.2026A>G (p.Ile676Val)
c.*971A>G (n.*971A>G)
c.2467A>G (p.Ile823Val)
c.2338A>G (p.Ile780Val)
9g.27206687A>TCA373120425TEKc.2470A>T (p.Ile824Phe)
c.2341A>T (p.Ile781Phe)
c.2026A>T (p.Ile676Phe)
c.*971A>T (n.*971A>T)
c.2467A>T (p.Ile823Phe)
c.2338A>T (p.Ile780Phe)
9g.27206688T>ACA373120450TEKc.2471T>A (p.Ile824Asn)
c.2342T>A (p.Ile781Asn)
c.2027T>A (p.Ile676Asn)
c.*972T>A (n.*972T>A)
c.2468T>A (p.Ile823Asn)
c.2339T>A (p.Ile780Asn)
9g.27206688T>CCA373120461TEKc.2471T>C (p.Ile824Thr)
c.2342T>C (p.Ile781Thr)
c.2027T>C (p.Ile676Thr)
c.*972T>C (n.*972T>C)
c.2468T>C (p.Ile823Thr)
c.2339T>C (p.Ile780Thr)
9g.27206688T>GCA373120459TEKc.2471T>G (p.Ile824Ser)
c.2342T>G (p.Ile781Ser)
c.2027T>G (p.Ile676Ser)
c.*972T>G (n.*972T>G)
c.2468T>G (p.Ile823Ser)
c.2339T>G (p.Ile780Ser)
9g.27206689C>ACA464168255TEKc.2472C>A (p.Ile824=)
c.2343C>A (p.Ile781=)
c.2028C>A (p.Ile676=)
c.*973C>A (n.*973C>A)
c.2469C>A (p.Ile823=)
c.2340C>A (p.Ile780=)
dbSNP gnomAD v4
9g.27206689C=CA1842005366TEKc.2472C= (p.Ile824=)
c.2343C= (p.Ile781=)
c.2028C= (p.Ile676=)
c.*973C= (n.*973C=)
c.2469C= (p.Ile823=)
c.2340C= (p.Ile780=)
9g.27206689C>GCA373120478TEKc.2472C>G (p.Ile824Met)
c.2343C>G (p.Ile781Met)
c.2028C>G (p.Ile676Met)
c.*973C>G (n.*973C>G)
c.2469C>G (p.Ile823Met)
c.2340C>G (p.Ile780Met)
9g.27206689C>TCA464168256TEKc.2472C>T (p.Ile824=)
c.2343C>T (p.Ile781=)
c.2028C>T (p.Ile676=)
c.*973C>T (n.*973C>T)
c.2469C>T (p.Ile823=)
c.2340C>T (p.Ile780=)
9g.27206690A>CCA373120485TEKc.2473A>C (p.Lys825Gln)
c.2344A>C (p.Lys782Gln)
c.2029A>C (p.Lys677Gln)
c.*974A>C (n.*974A>C)
c.2470A>C (p.Lys824Gln)
c.2341A>C (p.Lys781Gln)
9g.27206690A>GCA373120481TEKc.2473A>G (p.Lys825Glu)
c.2344A>G (p.Lys782Glu)
c.2029A>G (p.Lys677Glu)
c.*974A>G (n.*974A>G)
c.2470A>G (p.Lys824Glu)
c.2341A>G (p.Lys781Glu)
9g.27206690A>TCA373120482TEKc.2473A>T (p.Lys825Ter)
c.2344A>T (p.Lys782Ter)
c.2029A>T (p.Lys677Ter)
c.*974A>T (n.*974A>T)
c.2470A>T (p.Lys824Ter)
c.2341A>T (p.Lys781Ter)
9g.27206691A=CA1842005367TEKc.2474A= (p.Lys825=)
c.2345A= (p.Lys782=)
c.2030A= (p.Lys677=)
c.*975A= (n.*975A=)
c.2471A= (p.Lys824=)
c.2342A= (p.Lys781=)
9g.27206691A>CCA373120488TEKc.2474A>C (p.Lys825Thr)
c.2345A>C (p.Lys782Thr)
c.2030A>C (p.Lys677Thr)
c.*975A>C (n.*975A>C)
c.2471A>C (p.Lys824Thr)
c.2342A>C (p.Lys781Thr)
dbSNP
9g.27206691A>GCA373120495TEKc.2474A>G (p.Lys825Arg)
c.2345A>G (p.Lys782Arg)
c.2030A>G (p.Lys677Arg)
c.*975A>G (n.*975A>G)
c.2471A>G (p.Lys824Arg)
c.2342A>G (p.Lys781Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27206691A>TCA373120496TEKc.2474A>T (p.Lys825Ile)
c.2345A>T (p.Lys782Ile)
c.2030A>T (p.Lys677Ile)
c.*975A>T (n.*975A>T)
c.2471A>T (p.Lys824Ile)
c.2342A>T (p.Lys781Ile)
gnomAD v4
9g.27206692A>CCA373120498TEKc.2475A>C (p.Lys825Asn)
c.2346A>C (p.Lys782Asn)
c.2031A>C (p.Lys677Asn)
c.*976A>C (n.*976A>C)
c.2472A>C (p.Lys824Asn)
c.2343A>C (p.Lys781Asn)
9g.27206692A>GCA464168259TEKc.2475A>G (p.Lys825=)
c.2346A>G (p.Lys782=)
c.2031A>G (p.Lys677=)
c.*976A>G (n.*976A>G)
c.2472A>G (p.Lys824=)
c.2343A>G (p.Lys781=)
gnomAD v4
9g.27206692A>TCA373120500TEKc.2475A>T (p.Lys825Asn)
c.2346A>T (p.Lys782Asn)
c.2031A>T (p.Lys677Asn)
c.*976A>T (n.*976A>T)
c.2472A>T (p.Lys824Asn)
c.2343A>T (p.Lys781Asn)
gnomAD v4
9g.27206693T>ACA373120503TEKc.2476T>A (p.Phe826Ile)
c.2347T>A (p.Phe783Ile)
c.2032T>A (p.Phe678Ile)
c.*977T>A (n.*977T>A)
c.2473T>A (p.Phe825Ile)
c.2344T>A (p.Phe782Ile)
9g.27206693T>CCA373120517TEKc.2476T>C (p.Phe826Leu)
c.2347T>C (p.Phe783Leu)
c.2032T>C (p.Phe678Leu)
c.*977T>C (n.*977T>C)
c.2473T>C (p.Phe825Leu)
c.2344T>C (p.Phe782Leu)
9g.27206693T>GCA373120519TEKc.2476T>G (p.Phe826Val)
c.2347T>G (p.Phe783Val)
c.2032T>G (p.Phe678Val)
c.*977T>G (n.*977T>G)
c.2473T>G (p.Phe825Val)
c.2344T>G (p.Phe782Val)
9g.27206694T>ACA373120525TEKc.2477T>A (p.Phe826Tyr)
c.2348T>A (p.Phe783Tyr)
c.2033T>A (p.Phe678Tyr)
c.*978T>A (n.*978T>A)
c.2474T>A (p.Phe825Tyr)
c.2345T>A (p.Phe782Tyr)
9g.27206694T>CCA373120533TEKc.2477T>C (p.Phe826Ser)
c.2348T>C (p.Phe783Ser)
c.2033T>C (p.Phe678Ser)
c.*978T>C (n.*978T>C)
c.2474T>C (p.Phe825Ser)
c.2345T>C (p.Phe782Ser)
9g.27206694T>GCA373120537TEKc.2477T>G (p.Phe826Cys)
c.2348T>G (p.Phe783Cys)
c.2033T>G (p.Phe678Cys)
c.*978T>G (n.*978T>G)
c.2474T>G (p.Phe825Cys)
c.2345T>G (p.Phe782Cys)
dbSNP
9g.27206694T=CA1842005368TEKc.2477T= (p.Phe826=)
c.2348T= (p.Phe783=)
c.2033T= (p.Phe678=)
c.*978T= (n.*978T=)
c.2474T= (p.Phe825=)
c.2345T= (p.Phe782=)
9g.27206695T>ACA373120538TEKc.2478T>A (p.Phe826Leu)
c.2349T>A (p.Phe783Leu)
c.2034T>A (p.Phe678Leu)
c.*979T>A (n.*979T>A)
c.2475T>A (p.Phe825Leu)
c.2346T>A (p.Phe782Leu)
9g.27206695T>CCA464168262TEKc.2478T>C (p.Phe826=)
c.2349T>C (p.Phe783=)
c.2034T>C (p.Phe678=)
c.*979T>C (n.*979T>C)
c.2475T>C (p.Phe825=)
c.2346T>C (p.Phe782=)
gnomAD v4
9g.27206695T>GCA373120539TEKc.2478T>G (p.Phe826Leu)
c.2349T>G (p.Phe783Leu)
c.2034T>G (p.Phe678Leu)
c.*979T>G (n.*979T>G)
c.2475T>G (p.Phe825Leu)
c.2346T>G (p.Phe782Leu)
9g.27206696C>ACA373120540TEKc.2479C>A (p.Gln827Lys)
c.2350C>A (p.Gln784Lys)
c.2035C>A (p.Gln679Lys)
c.*980C>A (n.*980C>A)
c.2476C>A (p.Gln826Lys)
c.2347C>A (p.Gln783Lys)
9g.27206696C>GCA373120542TEKc.2479C>G (p.Gln827Glu)
c.2350C>G (p.Gln784Glu)
c.2035C>G (p.Gln679Glu)
c.*980C>G (n.*980C>G)
c.2476C>G (p.Gln826Glu)
c.2347C>G (p.Gln783Glu)
9g.27206696C>TCA373120545TEKc.2479C>T (p.Gln827Ter)
c.2350C>T (p.Gln784Ter)
c.2035C>T (p.Gln679Ter)
c.*980C>T (n.*980C>T)
c.2476C>T (p.Gln826Ter)
c.2347C>T (p.Gln783Ter)
COSMIC COSMIC
9g.27206697A>CCA373120550TEKc.2480A>C (p.Gln827Pro)
c.2351A>C (p.Gln784Pro)
c.2036A>C (p.Gln679Pro)
c.*981A>C (n.*981A>C)
c.2477A>C (p.Gln826Pro)
c.2348A>C (p.Gln783Pro)
gnomAD v4
9g.27206697A>GCA373120553TEKc.2480A>G (p.Gln827Arg)
c.2351A>G (p.Gln784Arg)
c.2036A>G (p.Gln679Arg)
c.*981A>G (n.*981A>G)
c.2477A>G (p.Gln826Arg)
c.2348A>G (p.Gln783Arg)
9g.27206697A>TCA373120559TEKc.2480A>T (p.Gln827Leu)
c.2351A>T (p.Gln784Leu)
c.2036A>T (p.Gln679Leu)
c.*981A>T (n.*981A>T)
c.2477A>T (p.Gln826Leu)
c.2348A>T (p.Gln783Leu)
9g.27206698A>CCA373120565TEKc.2481A>C (p.Gln827His)
c.2352A>C (p.Gln784His)
c.2037A>C (p.Gln679His)
c.*982A>C (n.*982A>C)
c.2478A>C (p.Gln826His)
c.2349A>C (p.Gln783His)
9g.27206698A>GCA464168264TEKc.2481A>G (p.Gln827=)
c.2352A>G (p.Gln784=)
c.2037A>G (p.Gln679=)
c.*982A>G (n.*982A>G)
c.2478A>G (p.Gln826=)
c.2349A>G (p.Gln783=)
9g.27206698A>TCA373120567TEKc.2481A>T (p.Gln827His)
c.2352A>T (p.Gln784His)
c.2037A>T (p.Gln679His)
c.*982A>T (n.*982A>T)
c.2478A>T (p.Gln826His)
c.2349A>T (p.Gln783His)
9g.27206699G>ACA373120568TEKc.2482G>A (p.Asp828Asn)
c.2353G>A (p.Asp785Asn)
c.2038G>A (p.Asp680Asn)
c.*983G>A (n.*983G>A)
c.2479G>A (p.Asp827Asn)
c.2350G>A (p.Asp784Asn)
gnomAD v4 COSMIC COSMIC
9g.27206699G>CCA373120576TEKc.2482G>C (p.Asp828His)
c.2353G>C (p.Asp785His)
c.2038G>C (p.Asp680His)
c.*983G>C (n.*983G>C)
c.2479G>C (p.Asp827His)
c.2350G>C (p.Asp784His)
9g.27206699G>TCA373120583TEKc.2482G>T (p.Asp828Tyr)
c.2353G>T (p.Asp785Tyr)
c.2038G>T (p.Asp680Tyr)
c.*983G>T (n.*983G>T)
c.2479G>T (p.Asp827Tyr)
c.2350G>T (p.Asp784Tyr)
9g.27206700A=CA1842005369TEKc.2483A= (p.Asp828=)
c.2354A= (p.Asp785=)
c.2039A= (p.Asp680=)
c.*984A= (n.*984A=)
c.2480A= (p.Asp827=)
c.2351A= (p.Asp784=)
9g.27206700A>CCA373120589TEKc.2483A>C (p.Asp828Ala)
c.2354A>C (p.Asp785Ala)
c.2039A>C (p.Asp680Ala)
c.*984A>C (n.*984A>C)
c.2480A>C (p.Asp827Ala)
c.2351A>C (p.Asp784Ala)
dbSNP gnomAD v4
9g.27206700A>GCA5016504TEKc.2483A>G (p.Asp828Gly)
c.2354A>G (p.Asp785Gly)
c.2039A>G (p.Asp680Gly)
c.*984A>G (n.*984A>G)
c.2480A>G (p.Asp827Gly)
c.2351A>G (p.Asp784Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27206700A>TCA373120588TEKc.2483A>T (p.Asp828Val)
c.2354A>T (p.Asp785Val)
c.2039A>T (p.Asp680Val)
c.*984A>T (n.*984A>T)
c.2480A>T (p.Asp827Val)
c.2351A>T (p.Asp784Val)
9g.27206701T>ACA373120596TEKc.2484T>A (p.Asp828Glu)
c.2355T>A (p.Asp785Glu)
c.2040T>A (p.Asp680Glu)
c.*985T>A (n.*985T>A)
c.2481T>A (p.Asp827Glu)
c.2352T>A (p.Asp784Glu)
9g.27206701T>CCA464168266TEKc.2484T>C (p.Asp828=)
c.2355T>C (p.Asp785=)
c.2040T>C (p.Asp680=)
c.*985T>C (n.*985T>C)
c.2481T>C (p.Asp827=)
c.2352T>C (p.Asp784=)
dbSNP
9g.27206701T>GCA373120597TEKc.2484T>G (p.Asp828Glu)
c.2355T>G (p.Asp785Glu)
c.2040T>G (p.Asp680Glu)
c.*985T>G (n.*985T>G)
c.2481T>G (p.Asp827Glu)
c.2352T>G (p.Asp784Glu)
9g.27206702G>ACA373120598TEKc.2485G>A (p.Val829Met)
c.2356G>A (p.Val786Met)
c.2041G>A (p.Val681Met)
c.*986G>A (n.*986G>A)
c.2482G>A (p.Val828Met)
c.2353G>A (p.Val785Met)
9g.27206702G>CCA373120611TEKc.2485G>C (p.Val829Leu)
c.2356G>C (p.Val786Leu)
c.2041G>C (p.Val681Leu)
c.*986G>C (n.*986G>C)
c.2482G>C (p.Val828Leu)
c.2353G>C (p.Val785Leu)
9g.27206702G>TCA373120612TEKc.2485G>T (p.Val829Leu)
c.2356G>T (p.Val786Leu)
c.2041G>T (p.Val681Leu)
c.*986G>T (n.*986G>T)
c.2482G>T (p.Val828Leu)
c.2353G>T (p.Val785Leu)
9g.27206703T>ACA373120613TEKc.2486T>A (p.Val829Glu)
c.2357T>A (p.Val786Glu)
c.2042T>A (p.Val681Glu)
c.*987T>A (n.*987T>A)
c.2483T>A (p.Val828Glu)
c.2354T>A (p.Val785Glu)
9g.27206703T>CCA373120623TEKc.2486T>C (p.Val829Ala)
c.2357T>C (p.Val786Ala)
c.2042T>C (p.Val681Ala)
c.*987T>C (n.*987T>C)
c.2483T>C (p.Val828Ala)
c.2354T>C (p.Val785Ala)
9g.27206703T>GCA373120627TEKc.2486T>G (p.Val829Gly)
c.2357T>G (p.Val786Gly)
c.2042T>G (p.Val681Gly)
c.*987T>G (n.*987T>G)
c.2483T>G (p.Val828Gly)
c.2354T>G (p.Val785Gly)
9g.27206704G>ACA464168267TEKc.2487G>A (p.Val829=)
c.2358G>A (p.Val786=)
c.2043G>A (p.Val681=)
c.*988G>A (n.*988G>A)
c.2484G>A (p.Val828=)
c.2355G>A (p.Val785=)
9g.27206704G>CCA464168268TEKc.2487G>C (p.Val829=)
c.2358G>C (p.Val786=)
c.2043G>C (p.Val681=)
c.*988G>C (n.*988G>C)
c.2484G>C (p.Val828=)
c.2355G>C (p.Val785=)
9g.27206704G>TCA464168269TEKc.2487G>T (p.Val829=)
c.2358G>T (p.Val786=)
c.2043G>T (p.Val681=)
c.*988G>T (n.*988G>T)
c.2484G>T (p.Val828=)
c.2355G>T (p.Val785=)
9g.27206705A=CA1842005370TEKc.2488A= (p.Ile830=)
c.2359A= (p.Ile787=)
c.2044A= (p.Ile682=)
c.*989A= (n.*989A=)
c.2485A= (p.Ile829=)
c.2356A= (p.Ile786=)
9g.27206705A>CCA373120637TEKc.2488A>C (p.Ile830Leu)
c.2359A>C (p.Ile787Leu)
c.2044A>C (p.Ile682Leu)
c.*989A>C (n.*989A>C)
c.2485A>C (p.Ile829Leu)
c.2356A>C (p.Ile786Leu)
9g.27206705A>GCA5016505TEKc.2488A>G (p.Ile830Val)
c.2359A>G (p.Ile787Val)
c.2044A>G (p.Ile682Val)
c.*989A>G (n.*989A>G)
c.2485A>G (p.Ile829Val)
c.2356A>G (p.Ile786Val)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27206705A>TCA373120641TEKc.2488A>T (p.Ile830Phe)
c.2359A>T (p.Ile787Phe)
c.2044A>T (p.Ile682Phe)
c.*989A>T (n.*989A>T)
c.2485A>T (p.Ile829Phe)
c.2356A>T (p.Ile786Phe)
9g.27206706T>ACA373120659TEKc.2489T>A (p.Ile830Asn)
c.2360T>A (p.Ile787Asn)
c.2045T>A (p.Ile682Asn)
c.*990T>A (n.*990T>A)
c.2486T>A (p.Ile829Asn)
c.2357T>A (p.Ile786Asn)
9g.27206706T>CCA373120648TEKc.2489T>C (p.Ile830Thr)
c.2360T>C (p.Ile787Thr)
c.2045T>C (p.Ile682Thr)
c.*990T>C (n.*990T>C)
c.2486T>C (p.Ile829Thr)
c.2357T>C (p.Ile786Thr)
9g.27206706T>GCA373120644TEKc.2489T>G (p.Ile830Ser)
c.2360T>G (p.Ile787Ser)
c.2045T>G (p.Ile682Ser)
c.*990T>G (n.*990T>G)
c.2486T>G (p.Ile829Ser)
c.2357T>G (p.Ile786Ser)
9g.27206707T>ACA464168270TEKc.2490T>A (p.Ile830=)
c.2361T>A (p.Ile787=)
c.2046T>A (p.Ile682=)
c.*991T>A (n.*991T>A)
c.2487T>A (p.Ile829=)
c.2358T>A (p.Ile786=)
9g.27206707T>CCA464168271TEKc.2490T>C (p.Ile830=)
c.2361T>C (p.Ile787=)
c.2046T>C (p.Ile682=)
c.*991T>C (n.*991T>C)
c.2487T>C (p.Ile829=)
c.2358T>C (p.Ile786=)
dbSNP gnomAD v2 gnomAD v4
9g.27206707T>GCA373120667TEKc.2490T>G (p.Ile830Met)
c.2361T>G (p.Ile787Met)
c.2046T>G (p.Ile682Met)
c.*991T>G (n.*991T>G)
c.2487T>G (p.Ile829Met)
c.2358T>G (p.Ile786Met)
9g.27206707T=CA1842005371TEKc.2490T= (p.Ile830=)
c.2361T= (p.Ile787=)
c.2046T= (p.Ile682=)
c.*991T= (n.*991T=)
c.2487T= (p.Ile829=)
c.2358T= (p.Ile786=)
9g.27206708G>ACA373120671TEKc.2491G>A (p.Gly831Arg)
c.2362G>A (p.Gly788Arg)
c.2047G>A (p.Gly683Arg)
c.*992G>A (n.*992G>A)
c.2488G>A (p.Gly830Arg)
c.2359G>A (p.Gly787Arg)
9g.27206708G>CCA373120672TEKc.2491G>C (p.Gly831Arg)
c.2362G>C (p.Gly788Arg)
c.2047G>C (p.Gly683Arg)
c.*992G>C (n.*992G>C)
c.2488G>C (p.Gly830Arg)
c.2359G>C (p.Gly787Arg)
9g.27206708G>TCA373120673TEKc.2491G>T (p.Gly831Trp)
c.2362G>T (p.Gly788Trp)
c.2047G>T (p.Gly683Trp)
c.*992G>T (n.*992G>T)
c.2488G>T (p.Gly830Trp)
c.2359G>T (p.Gly787Trp)
9g.27206709G>ACA373120675TEKc.2492G>A (p.Gly831Glu)
c.2363G>A (p.Gly788Glu)
c.2048G>A (p.Gly683Glu)
c.*993G>A (n.*993G>A)
c.2489G>A (p.Gly830Glu)
c.2360G>A (p.Gly787Glu)
9g.27206709G>CCA373120683TEKc.2492G>C (p.Gly831Ala)
c.2363G>C (p.Gly788Ala)
c.2048G>C (p.Gly683Ala)
c.*993G>C (n.*993G>C)
c.2489G>C (p.Gly830Ala)
c.2360G>C (p.Gly787Ala)
9g.27206709G>TCA373120687TEKc.2492G>T (p.Gly831Val)
c.2363G>T (p.Gly788Val)
c.2048G>T (p.Gly683Val)
c.*993G>T (n.*993G>T)
c.2489G>T (p.Gly830Val)
c.2360G>T (p.Gly787Val)
9g.27206710G>ACA464168272TEKc.2493G>A (p.Gly831=)
c.2364G>A (p.Gly788=)
c.2049G>A (p.Gly683=)
c.*994G>A (n.*994G>A)
c.2490G>A (p.Gly830=)
c.2361G>A (p.Gly787=)
gnomAD v4
9g.27206710G>CCA464168273TEKc.2493G>C (p.Gly831=)
c.2364G>C (p.Gly788=)
c.2049G>C (p.Gly683=)
c.*994G>C (n.*994G>C)
c.2490G>C (p.Gly830=)
c.2361G>C (p.Gly787=)
9g.27206710G>TCA464168274TEKc.2493G>T (p.Gly831=)
c.2364G>T (p.Gly788=)
c.2049G>T (p.Gly683=)
c.*994G>T (n.*994G>T)
c.2490G>T (p.Gly830=)
c.2361G>T (p.Gly787=)
9g.27206711G>ACA373120693TEKc.2494G>A (p.Glu832Lys)
c.2365G>A (p.Glu789Lys)
c.2050G>A (p.Glu684Lys)
c.*995G>A (n.*995G>A)
c.2491G>A (p.Glu831Lys)
c.2362G>A (p.Glu788Lys)
9g.27206711G>CCA373120703TEKc.2494G>C (p.Glu832Gln)
c.2365G>C (p.Glu789Gln)
c.2050G>C (p.Glu684Gln)
c.*995G>C (n.*995G>C)
c.2491G>C (p.Glu831Gln)
c.2362G>C (p.Glu788Gln)
9g.27206711G>TCA373120710TEKc.2494G>T (p.Glu832Ter)
c.2365G>T (p.Glu789Ter)
c.2050G>T (p.Glu684Ter)
c.*995G>T (n.*995G>T)
c.2491G>T (p.Glu831Ter)
c.2362G>T (p.Glu788Ter)
9g.27206712A>CCA373120712TEKc.2495A>C (p.Glu832Ala)
c.2366A>C (p.Glu789Ala)
c.2051A>C (p.Glu684Ala)
c.*996A>C (n.*996A>C)
c.2492A>C (p.Glu831Ala)
c.2363A>C (p.Glu788Ala)
9g.27206712A>GCA373120713TEKc.2495A>G (p.Glu832Gly)
c.2366A>G (p.Glu789Gly)
c.2051A>G (p.Glu684Gly)
c.*996A>G (n.*996A>G)
c.2492A>G (p.Glu831Gly)
c.2363A>G (p.Glu788Gly)
9g.27206712A>TCA373120714TEKc.2495A>T (p.Glu832Val)
c.2366A>T (p.Glu789Val)
c.2051A>T (p.Glu684Val)
c.*996A>T (n.*996A>T)
c.2492A>T (p.Glu831Val)
c.2363A>T (p.Glu788Val)
9g.27206713G>ACA464168275TEKc.2496G>A (p.Glu832=)
c.2367G>A (p.Glu789=)
c.2052G>A (p.Glu684=)
c.*997G>A (n.*997G>A)
c.2493G>A (p.Glu831=)
c.2364G>A (p.Glu788=)
gnomAD v4
9g.27206713G>CCA373120717TEKc.2496G>C (p.Glu832Asp)
c.2367G>C (p.Glu789Asp)
c.2052G>C (p.Glu684Asp)
c.*997G>C (n.*997G>C)
c.2493G>C (p.Glu831Asp)
c.2364G>C (p.Glu788Asp)
9g.27206713G=CA1842005372TEKc.2496G= (p.Glu832=)
c.2367G= (p.Glu789=)
c.2052G= (p.Glu684=)
c.*997G= (n.*997G=)
c.2493G= (p.Glu831=)
c.2364G= (p.Glu788=)
9g.27206713G>TCA191302043TEKc.2496G>T (p.Glu832Asp)
c.2367G>T (p.Glu789Asp)
c.2052G>T (p.Glu684Asp)
c.*997G>T (n.*997G>T)
c.2493G>T (p.Glu831Asp)
c.2364G>T (p.Glu788Asp)
dbSNP
9g.27206714G>ACA373120734TEKc.2497G>A (p.Gly833Ser)
c.2368G>A (p.Gly790Ser)
c.2053G>A (p.Gly685Ser)
c.*998G>A (n.*998G>A)
c.2494G>A (p.Gly832Ser)
c.2365G>A (p.Gly789Ser)
9g.27206714G>CCA373120741TEKc.2497G>C (p.Gly833Arg)
c.2368G>C (p.Gly790Arg)
c.2053G>C (p.Gly685Arg)
c.*998G>C (n.*998G>C)
c.2494G>C (p.Gly832Arg)
c.2365G>C (p.Gly789Arg)
9g.27206714G>TCA373120736TEKc.2497G>T (p.Gly833Cys)
c.2368G>T (p.Gly790Cys)
c.2053G>T (p.Gly685Cys)
c.*998G>T (n.*998G>T)
c.2494G>T (p.Gly832Cys)
c.2365G>T (p.Gly789Cys)
9g.27206715G>ACA373120742TEKc.2498G>A (p.Gly833Asp)
c.2369G>A (p.Gly790Asp)
c.2054G>A (p.Gly685Asp)
c.*999G>A (n.*999G>A)
c.2495G>A (p.Gly832Asp)
c.2366G>A (p.Gly789Asp)
COSMIC COSMIC
9g.27206715G>CCA373120743TEKc.2498G>C (p.Gly833Ala)
c.2369G>C (p.Gly790Ala)
c.2054G>C (p.Gly685Ala)
c.*999G>C (n.*999G>C)
c.2495G>C (p.Gly832Ala)
c.2366G>C (p.Gly789Ala)
9g.27206715G>TCA373120745TEKc.2498G>T (p.Gly833Val)
c.2369G>T (p.Gly790Val)
c.2054G>T (p.Gly685Val)
c.*999G>T (n.*999G>T)
c.2495G>T (p.Gly832Val)
c.2366G>T (p.Gly789Val)
9g.27206716C>ACA464168276TEKc.2499C>A (p.Gly833=)
c.2370C>A (p.Gly790=)
c.2055C>A (p.Gly685=)
c.*1000C>A (n.*1000C>A)
c.2496C>A (p.Gly832=)
c.2367C>A (p.Gly789=)
9g.27206716C>GCA464168277TEKc.2499C>G (p.Gly833=)
c.2370C>G (p.Gly790=)
c.2055C>G (p.Gly685=)
c.*1000C>G (n.*1000C>G)
c.2496C>G (p.Gly832=)
c.2367C>G (p.Gly789=)
9g.27206716C>TCA464168278TEKc.2499C>T (p.Gly833=)
c.2370C>T (p.Gly790=)
c.2055C>T (p.Gly685=)
c.*1000C>T (n.*1000C>T)
c.2496C>T (p.Gly832=)
c.2367C>T (p.Gly789=)
9g.27206717A>CCA373120748TEKc.2500A>C (p.Asn834His)
c.2371A>C (p.Asn791His)
c.2056A>C (p.Asn686His)
c.*1001A>C (n.*1001A>C)
c.2497A>C (p.Asn833His)
c.2368A>C (p.Asn790His)
9g.27206717A>GCA373120749TEKc.2500A>G (p.Asn834Asp)
c.2371A>G (p.Asn791Asp)
c.2056A>G (p.Asn686Asp)
c.*1001A>G (n.*1001A>G)
c.2497A>G (p.Asn833Asp)
c.2368A>G (p.Asn790Asp)
9g.27206717A>TCA373120750TEKc.2500A>T (p.Asn834Tyr)
c.2371A>T (p.Asn791Tyr)
c.2056A>T (p.Asn686Tyr)
c.*1001A>T (n.*1001A>T)
c.2497A>T (p.Asn833Tyr)
c.2368A>T (p.Asn790Tyr)
9g.27206718A>CCA373120752TEKc.2501A>C (p.Asn834Thr)
c.2372A>C (p.Asn791Thr)
c.2057A>C (p.Asn686Thr)
c.*1002A>C (n.*1002A>C)
c.2498A>C (p.Asn833Thr)
c.2369A>C (p.Asn790Thr)
9g.27206718A>GCA373120755TEKc.2501A>G (p.Asn834Ser)
c.2372A>G (p.Asn791Ser)
c.2057A>G (p.Asn686Ser)
c.*1002A>G (n.*1002A>G)
c.2498A>G (p.Asn833Ser)
c.2369A>G (p.Asn790Ser)
9g.27206718A>TCA373120758TEKc.2501A>T (p.Asn834Ile)
c.2372A>T (p.Asn791Ile)
c.2057A>T (p.Asn686Ile)
c.*1002A>T (n.*1002A>T)
c.2498A>T (p.Asn833Ile)
c.2369A>T (p.Asn790Ile)
9g.27206719T>ACA373120762TEKc.2502T>A (p.Asn834Lys)
c.2373T>A (p.Asn791Lys)
c.2058T>A (p.Asn686Lys)
c.*1003T>A (n.*1003T>A)
c.2499T>A (p.Asn833Lys)
c.2370T>A (p.Asn790Lys)
9g.27206719T>CCA5016506TEKc.2502T>C (p.Asn834=)
c.2373T>C (p.Asn791=)
c.2058T>C (p.Asn686=)
c.*1003T>C (n.*1003T>C)
c.2499T>C (p.Asn833=)
c.2370T>C (p.Asn790=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27206719T>GCA373120770TEKc.2502T>G (p.Asn834Lys)
c.2373T>G (p.Asn791Lys)
c.2058T>G (p.Asn686Lys)
c.*1003T>G (n.*1003T>G)
c.2499T>G (p.Asn833Lys)
c.2370T>G (p.Asn790Lys)
9g.27206719T=CA1842005373TEKc.2502T= (p.Asn834=)
c.2373T= (p.Asn791=)
c.2058T= (p.Asn686=)
c.*1003T= (n.*1003T=)
c.2499T= (p.Asn833=)
c.2370T= (p.Asn790=)
9g.27206720T>ACA373120778TEKc.2503T>A (p.Phe835Ile)
c.2374T>A (p.Phe792Ile)
c.2059T>A (p.Phe687Ile)
c.*1004T>A (n.*1004T>A)
c.2500T>A (p.Phe834Ile)
c.2371T>A (p.Phe791Ile)
9g.27206720T>CCA373120773TEKc.2503T>C (p.Phe835Leu)
c.2374T>C (p.Phe792Leu)
c.2059T>C (p.Phe687Leu)
c.*1004T>C (n.*1004T>C)
c.2500T>C (p.Phe834Leu)
c.2371T>C (p.Phe791Leu)
9g.27206720T>GCA373120775TEKc.2503T>G (p.Phe835Val)
c.2374T>G (p.Phe792Val)
c.2059T>G (p.Phe687Val)
c.*1004T>G (n.*1004T>G)
c.2500T>G (p.Phe834Val)
c.2371T>G (p.Phe791Val)
9g.27206721T>ACA373120781TEKc.2504T>A (p.Phe835Tyr)
c.2375T>A (p.Phe792Tyr)
c.2060T>A (p.Phe687Tyr)
c.*1005T>A (n.*1005T>A)
c.2501T>A (p.Phe834Tyr)
c.2372T>A (p.Phe791Tyr)
9g.27206721T>CCA373120789TEKc.2504T>C (p.Phe835Ser)
c.2375T>C (p.Phe792Ser)
c.2060T>C (p.Phe687Ser)
c.*1005T>C (n.*1005T>C)
c.2501T>C (p.Phe834Ser)
c.2372T>C (p.Phe791Ser)
9g.27206721T>GCA373120792TEKc.2504T>G (p.Phe835Cys)
c.2375T>G (p.Phe792Cys)
c.2060T>G (p.Phe687Cys)
c.*1005T>G (n.*1005T>G)
c.2501T>G (p.Phe834Cys)
c.2372T>G (p.Phe791Cys)
9g.27206722T>ACA373120795TEKc.2505T>A (p.Phe835Leu)
c.2376T>A (p.Phe792Leu)
c.2061T>A (p.Phe687Leu)
c.*1006T>A (n.*1006T>A)
c.2502T>A (p.Phe834Leu)
c.2373T>A (p.Phe791Leu)
9g.27206722T>CCA464168279TEKc.2505T>C (p.Phe835=)
c.2376T>C (p.Phe792=)
c.2061T>C (p.Phe687=)
c.*1006T>C (n.*1006T>C)
c.2502T>C (p.Phe834=)
c.2373T>C (p.Phe791=)
9g.27206722T>GCA373120797TEKc.2505T>G (p.Phe835Leu)
c.2376T>G (p.Phe792Leu)
c.2061T>G (p.Phe687Leu)
c.*1006T>G (n.*1006T>G)
c.2502T>G (p.Phe834Leu)
c.2373T>G (p.Phe791Leu)
9g.27206723G>ACA373120804TEKc.2506G>A (p.Gly836Ser)
c.2377G>A (p.Gly793Ser)
c.2062G>A (p.Gly688Ser)
c.*1007G>A (n.*1007G>A)
c.2503G>A (p.Gly835Ser)
c.2374G>A (p.Gly792Ser)
gnomAD v4
9g.27206723G>CCA373120807TEKc.2506G>C (p.Gly836Arg)
c.2377G>C (p.Gly793Arg)
c.2062G>C (p.Gly688Arg)
c.*1007G>C (n.*1007G>C)
c.2503G>C (p.Gly835Arg)
c.2374G>C (p.Gly792Arg)
9g.27206723G>TCA373120808TEKc.2506G>T (p.Gly836Cys)
c.2377G>T (p.Gly793Cys)
c.2062G>T (p.Gly688Cys)
c.*1007G>T (n.*1007G>T)
c.2503G>T (p.Gly835Cys)
c.2374G>T (p.Gly792Cys)
9g.27206724G>ACA373120811TEKc.2507G>A (p.Gly836Asp)
c.2378G>A (p.Gly793Asp)
c.2063G>A (p.Gly688Asp)
c.*1008G>A (n.*1008G>A)
c.2504G>A (p.Gly835Asp)
c.2375G>A (p.Gly792Asp)
9g.27206724G>CCA373120812TEKc.2507G>C (p.Gly836Ala)
c.2378G>C (p.Gly793Ala)
c.2063G>C (p.Gly688Ala)
c.*1008G>C (n.*1008G>C)
c.2504G>C (p.Gly835Ala)
c.2375G>C (p.Gly792Ala)
9g.27206724G>TCA373120813TEKc.2507G>T (p.Gly836Val)
c.2378G>T (p.Gly793Val)
c.2063G>T (p.Gly688Val)
c.*1008G>T (n.*1008G>T)
c.2504G>T (p.Gly835Val)
c.2375G>T (p.Gly792Val)
9g.27206725C>ACA464168281TEKc.2508C>A (p.Gly836=)
c.2379C>A (p.Gly793=)
c.2064C>A (p.Gly688=)
c.*1009C>A (n.*1009C>A)
c.2505C>A (p.Gly835=)
c.2376C>A (p.Gly792=)
9g.27206725C>GCA464168282TEKc.2508C>G (p.Gly836=)
c.2379C>G (p.Gly793=)
c.2064C>G (p.Gly688=)
c.*1009C>G (n.*1009C>G)
c.2505C>G (p.Gly835=)
c.2376C>G (p.Gly792=)
9g.27206725C>TCA464168283TEKc.2508C>T (p.Gly836=)
c.2379C>T (p.Gly793=)
c.2064C>T (p.Gly688=)
c.*1009C>T (n.*1009C>T)
c.2505C>T (p.Gly835=)
c.2376C>T (p.Gly792=)
9g.27206726C>ACA373120821TEKc.2509C>A (p.Gln837Lys)
c.2380C>A (p.Gln794Lys)
c.2065C>A (p.Gln689Lys)
c.*1010C>A (n.*1010C>A)
c.2506C>A (p.Gln836Lys)
c.2377C>A (p.Gln793Lys)
9g.27206726C>GCA373120818TEKc.2509C>G (p.Gln837Glu)
c.2380C>G (p.Gln794Glu)
c.2065C>G (p.Gln689Glu)
c.*1010C>G (n.*1010C>G)
c.2506C>G (p.Gln836Glu)
c.2377C>G (p.Gln793Glu)
9g.27206726C>TCA373120816TEKc.2509C>T (p.Gln837Ter)
c.2380C>T (p.Gln794Ter)
c.2065C>T (p.Gln689Ter)
c.*1010C>T (n.*1010C>T)
c.2506C>T (p.Gln836Ter)
c.2377C>T (p.Gln793Ter)
9g.27206727A>CCA373120825TEKc.2510A>C (p.Gln837Pro)
c.2381A>C (p.Gln794Pro)
c.2066A>C (p.Gln689Pro)
c.*1011A>C (n.*1011A>C)
c.2507A>C (p.Gln836Pro)
c.2378A>C (p.Gln793Pro)
9g.27206727A>GCA373120826TEKc.2510A>G (p.Gln837Arg)
c.2381A>G (p.Gln794Arg)
c.2066A>G (p.Gln689Arg)
c.*1011A>G (n.*1011A>G)
c.2507A>G (p.Gln836Arg)
c.2378A>G (p.Gln793Arg)
9g.27206727A>TCA373120828TEKc.2510A>T (p.Gln837Leu)
c.2381A>T (p.Gln794Leu)
c.2066A>T (p.Gln689Leu)
c.*1011A>T (n.*1011A>T)
c.2507A>T (p.Gln836Leu)
c.2378A>T (p.Gln793Leu)
9g.27206728A>CCA373120831TEKc.2511A>C (p.Gln837His)
c.2382A>C (p.Gln794His)
c.2067A>C (p.Gln689His)
c.*1012A>C (n.*1012A>C)
c.2508A>C (p.Gln836His)
c.2379A>C (p.Gln793His)
9g.27206728A>GCA464168284TEKc.2511A>G (p.Gln837=)
c.2382A>G (p.Gln794=)
c.2067A>G (p.Gln689=)
c.*1012A>G (n.*1012A>G)
c.2508A>G (p.Gln836=)
c.2379A>G (p.Gln793=)
gnomAD v4
9g.27206728A>TCA373120835TEKc.2511A>T (p.Gln837His)
c.2382A>T (p.Gln794His)
c.2067A>T (p.Gln689His)
c.*1012A>T (n.*1012A>T)
c.2508A>T (p.Gln836His)
c.2379A>T (p.Gln793His)
9g.27206729G>ACA373120848TEKc.2512G>A (p.Val838Ile)
c.2383G>A (p.Val795Ile)
c.2068G>A (p.Val690Ile)
c.*1013G>A (n.*1013G>A)
c.2509G>A (p.Val837Ile)
c.2380G>A (p.Val794Ile)
9g.27206729G>CCA373120844TEKc.2512G>C (p.Val838Leu)
c.2383G>C (p.Val795Leu)
c.2068G>C (p.Val690Leu)
c.*1013G>C (n.*1013G>C)
c.2509G>C (p.Val837Leu)
c.2380G>C (p.Val794Leu)
9g.27206729G>TCA373120838TEKc.2512G>T (p.Val838Phe)
c.2383G>T (p.Val795Phe)
c.2068G>T (p.Val690Phe)
c.*1013G>T (n.*1013G>T)
c.2509G>T (p.Val837Phe)
c.2380G>T (p.Val794Phe)
COSMIC COSMIC
9g.27206730T>ACA373120853TEKc.2513T>A (p.Val838Asp)
c.2384T>A (p.Val795Asp)
c.2069T>A (p.Val690Asp)
c.*1014T>A (n.*1014T>A)
c.2510T>A (p.Val837Asp)
c.2381T>A (p.Val794Asp)
9g.27206730T>CCA373120857TEKc.2513T>C (p.Val838Ala)
c.2384T>C (p.Val795Ala)
c.2069T>C (p.Val690Ala)
c.*1014T>C (n.*1014T>C)
c.2510T>C (p.Val837Ala)
c.2381T>C (p.Val794Ala)
9g.27206730T>GCA373120862TEKc.2513T>G (p.Val838Gly)
c.2384T>G (p.Val795Gly)
c.2069T>G (p.Val690Gly)
c.*1014T>G (n.*1014T>G)
c.2510T>G (p.Val837Gly)
c.2381T>G (p.Val794Gly)
9g.27206731T>ACA464168285TEKc.2514T>A (p.Val838=)
c.2385T>A (p.Val795=)
c.2070T>A (p.Val690=)
c.*1015T>A (n.*1015T>A)
c.2511T>A (p.Val837=)
c.2382T>A (p.Val794=)
9g.27206731T>CCA464168286TEKc.2514T>C (p.Val838=)
c.2385T>C (p.Val795=)
c.2070T>C (p.Val690=)
c.*1015T>C (n.*1015T>C)
c.2511T>C (p.Val837=)
c.2382T>C (p.Val794=)
9g.27206731T>GCA464168287TEKc.2514T>G (p.Val838=)
c.2385T>G (p.Val795=)
c.2070T>G (p.Val690=)
c.*1015T>G (n.*1015T>G)
c.2511T>G (p.Val837=)
c.2382T>G (p.Val794=)
9g.27206732C>ACA373120867TEKc.2515C>A (p.Leu839Ile)
c.2386C>A (p.Leu796Ile)
c.2071C>A (p.Leu691Ile)
c.*1016C>A (n.*1016C>A)
c.2512C>A (p.Leu838Ile)
c.2383C>A (p.Leu795Ile)
COSMIC
9g.27206732C>GCA373120875TEKc.2515C>G (p.Leu839Val)
c.2386C>G (p.Leu796Val)
c.2071C>G (p.Leu691Val)
c.*1016C>G (n.*1016C>G)
c.2512C>G (p.Leu838Val)
c.2383C>G (p.Leu795Val)
gnomAD v4
9g.27206732C>TCA373120877TEKc.2515C>T (p.Leu839Phe)
c.2386C>T (p.Leu796Phe)
c.2071C>T (p.Leu691Phe)
c.*1016C>T (n.*1016C>T)
c.2512C>T (p.Leu838Phe)
c.2383C>T (p.Leu795Phe)
9g.27206733T>ACA373120878TEKc.2516T>A (p.Leu839His)
c.2387T>A (p.Leu796His)
c.2072T>A (p.Leu691His)
c.*1017T>A (n.*1017T>A)
c.2513T>A (p.Leu838His)
c.2384T>A (p.Leu795His)
9g.27206733T>CCA373120880TEKc.2516T>C (p.Leu839Pro)
c.2387T>C (p.Leu796Pro)
c.2072T>C (p.Leu691Pro)
c.*1017T>C (n.*1017T>C)
c.2513T>C (p.Leu838Pro)
c.2384T>C (p.Leu795Pro)
9g.27206733T>GCA373120879TEKc.2516T>G (p.Leu839Arg)
c.2387T>G (p.Leu796Arg)
c.2072T>G (p.Leu691Arg)
c.*1017T>G (n.*1017T>G)
c.2513T>G (p.Leu838Arg)
c.2384T>G (p.Leu795Arg)
COSMIC COSMIC
9g.27206734T>ACA464168288TEKc.2517T>A (p.Leu839=)
c.2388T>A (p.Leu796=)
c.2073T>A (p.Leu691=)
c.*1018T>A (n.*1018T>A)
c.2514T>A (p.Leu838=)
c.2385T>A (p.Leu795=)
9g.27206734T>CCA464168289TEKc.2517T>C (p.Leu839=)
c.2388T>C (p.Leu796=)
c.2073T>C (p.Leu691=)
c.*1018T>C (n.*1018T>C)
c.2514T>C (p.Leu838=)
c.2385T>C (p.Leu795=)
9g.27206734T>GCA464168290TEKc.2517T>G (p.Leu839=)
c.2388T>G (p.Leu796=)
c.2073T>G (p.Leu691=)
c.*1018T>G (n.*1018T>G)
c.2514T>G (p.Leu838=)
c.2385T>G (p.Leu795=)
9g.27206735A>CCA373120887TEKc.2518A>C (p.Lys840Gln)
c.2389A>C (p.Lys797Gln)
c.2074A>C (p.Lys692Gln)
c.*1019A>C (n.*1019A>C)
c.2515A>C (p.Lys839Gln)
c.2386A>C (p.Lys796Gln)
gnomAD v4
9g.27206735A>GCA373120888TEKc.2518A>G (p.Lys840Glu)
c.2389A>G (p.Lys797Glu)
c.2074A>G (p.Lys692Glu)
c.*1019A>G (n.*1019A>G)
c.2515A>G (p.Lys839Glu)
c.2386A>G (p.Lys796Glu)
9g.27206735A>TCA373120889TEKc.2518A>T (p.Lys840Ter)
c.2389A>T (p.Lys797Ter)
c.2074A>T (p.Lys692Ter)
c.*1019A>T (n.*1019A>T)
c.2515A>T (p.Lys839Ter)
c.2386A>T (p.Lys796Ter)
9g.27206736A=CA1842005374TEKc.2519A= (p.Lys840=)
c.2390A= (p.Lys797=)
c.2075A= (p.Lys692=)
c.*1020A= (n.*1020A=)
c.2516A= (p.Lys839=)
c.2387A= (p.Lys796=)
9g.27206736A>CCA373120890TEKc.2519A>C (p.Lys840Thr)
c.2390A>C (p.Lys797Thr)
c.2075A>C (p.Lys692Thr)
c.*1020A>C (n.*1020A>C)
c.2516A>C (p.Lys839Thr)
c.2387A>C (p.Lys796Thr)
9g.27206736A>GCA373120891TEKc.2519A>G (p.Lys840Arg)
c.2390A>G (p.Lys797Arg)
c.2075A>G (p.Lys692Arg)
c.*1020A>G (n.*1020A>G)
c.2516A>G (p.Lys839Arg)
c.2387A>G (p.Lys796Arg)
dbSNP
9g.27206736A>TCA373120892TEKc.2519A>T (p.Lys840Met)
c.2390A>T (p.Lys797Met)
c.2075A>T (p.Lys692Met)
c.*1020A>T (n.*1020A>T)
c.2516A>T (p.Lys839Met)
c.2387A>T (p.Lys796Met)
9g.27206737G>ACA464168291TEKc.2520G>A (p.Lys840=)
c.2391G>A (p.Lys797=)
c.2076G>A (p.Lys692=)
c.*1021G>A (n.*1021G>A)
c.2517G>A (p.Lys839=)
c.2388G>A (p.Lys796=)
9g.27206737G>CCA373120893TEKc.2520G>C (p.Lys840Asn)
c.2391G>C (p.Lys797Asn)
c.2076G>C (p.Lys692Asn)
c.*1021G>C (n.*1021G>C)
c.2517G>C (p.Lys839Asn)
c.2388G>C (p.Lys796Asn)
9g.27206737G>TCA373120894TEKc.2520G>T (p.Lys840Asn)
c.2391G>T (p.Lys797Asn)
c.2076G>T (p.Lys692Asn)
c.*1021G>T (n.*1021G>T)
c.2517G>T (p.Lys839Asn)
c.2388G>T (p.Lys796Asn)
9g.27206738G>ACA373120895TEKc.2521G>A (p.Ala841Thr)
c.2392G>A (p.Ala798Thr)
c.2077G>A (p.Ala693Thr)
c.*1022G>A (n.*1022G>A)
c.2518G>A (p.Ala840Thr)
c.2389G>A (p.Ala797Thr)
9g.27206738G>CCA373120896TEKc.2521G>C (p.Ala841Pro)
c.2392G>C (p.Ala798Pro)
c.2077G>C (p.Ala693Pro)
c.*1022G>C (n.*1022G>C)
c.2518G>C (p.Ala840Pro)
c.2389G>C (p.Ala797Pro)
9g.27206738G>TCA373120897TEKc.2521G>T (p.Ala841Ser)
c.2392G>T (p.Ala798Ser)
c.2077G>T (p.Ala693Ser)
c.*1022G>T (n.*1022G>T)
c.2518G>T (p.Ala840Ser)
c.2389G>T (p.Ala797Ser)
9g.27206739C>ACA373120898TEKc.2522C>A (p.Ala841Glu)
c.2393C>A (p.Ala798Glu)
c.2078C>A (p.Ala693Glu)
c.*1023C>A (n.*1023C>A)
c.2519C>A (p.Ala840Glu)
c.2390C>A (p.Ala797Glu)
9g.27206739C=CA1842005375TEKc.2522C= (p.Ala841=)
c.2393C= (p.Ala798=)
c.2078C= (p.Ala693=)
c.*1023C= (n.*1023C=)
c.2519C= (p.Ala840=)
c.2390C= (p.Ala797=)
9g.27206739C>GCA373120899TEKc.2522C>G (p.Ala841Gly)
c.2393C>G (p.Ala798Gly)
c.2078C>G (p.Ala693Gly)
c.*1023C>G (n.*1023C>G)
c.2519C>G (p.Ala840Gly)
c.2390C>G (p.Ala797Gly)
9g.27206739C>TCA5016507TEKc.2522C>T (p.Ala841Val)
c.2393C>T (p.Ala798Val)
c.2078C>T (p.Ala693Val)
c.*1023C>T (n.*1023C>T)
c.2519C>T (p.Ala840Val)
c.2390C>T (p.Ala797Val)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27206740G>ACA5016508TEKc.2523G>A (p.Ala841=)
c.2394G>A (p.Ala798=)
c.2079G>A (p.Ala693=)
c.*1024G>A (n.*1024G>A)
c.2520G>A (p.Ala840=)
c.2391G>A (p.Ala797=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.27206740G>CCA464168292TEKc.2523G>C (p.Ala841=)
c.2394G>C (p.Ala798=)
c.2079G>C (p.Ala693=)
c.*1024G>C (n.*1024G>C)
c.2520G>C (p.Ala840=)
c.2391G>C (p.Ala797=)
9g.27206740G=CA1842005376TEKc.2523G= (p.Ala841=)
c.2394G= (p.Ala798=)
c.2079G= (p.Ala693=)
c.*1024G= (n.*1024G=)
c.2520G= (p.Ala840=)
c.2391G= (p.Ala797=)
9g.27206740G>TCA464168293TEKc.2523G>T (p.Ala841=)
c.2394G>T (p.Ala798=)
c.2079G>T (p.Ala693=)
c.*1024G>T (n.*1024G>T)
c.2520G>T (p.Ala840=)
c.2391G>T (p.Ala797=)
dbSNP gnomAD v2 gnomAD v4
9g.27206741C>ACA373120902TEKc.2524C>A (p.Arg842Ser)
c.2395C>A (p.Arg799Ser)
c.2080C>A (p.Arg694Ser)
c.*1025C>A (n.*1025C>A)
c.2521C>A (p.Arg841Ser)
c.2392C>A (p.Arg798Ser)
9g.27206741C=CA1842005377TEKc.2524C= (p.Arg842=)
c.2395C= (p.Arg799=)
c.2080C= (p.Arg694=)
c.*1025C= (n.*1025C=)
c.2521C= (p.Arg841=)
c.2392C= (p.Arg798=)
9g.27206741C>GCA373120903TEKc.2524C>G (p.Arg842Gly)
c.2395C>G (p.Arg799Gly)
c.2080C>G (p.Arg694Gly)
c.*1025C>G (n.*1025C>G)
c.2521C>G (p.Arg841Gly)
c.2392C>G (p.Arg798Gly)
9g.27206741C>TCA5016509TEKc.2524C>T (p.Arg842Cys)
c.2395C>T (p.Arg799Cys)
c.2080C>T (p.Arg694Cys)
c.*1025C>T (n.*1025C>T)
c.2521C>T (p.Arg841Cys)
c.2392C>T (p.Arg798Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.27206742G>ACA5016510TEKc.2525G>A (p.Arg842His)
c.2396G>A (p.Arg799His)
c.2081G>A (p.Arg694His)
c.*1026G>A (n.*1026G>A)
c.2522G>A (p.Arg841His)
c.2393G>A (p.Arg798His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.27206742G>CCA373120904TEKc.2525G>C (p.Arg842Pro)
c.2396G>C (p.Arg799Pro)
c.2081G>C (p.Arg694Pro)
c.*1026G>C (n.*1026G>C)
c.2522G>C (p.Arg841Pro)
c.2393G>C (p.Arg798Pro)
9g.27206742G=CA1842005378TEKc.2525G= (p.Arg842=)
c.2396G= (p.Arg799=)
c.2081G= (p.Arg694=)
c.*1026G= (n.*1026G=)
c.2522G= (p.Arg841=)
c.2393G= (p.Arg798=)
9g.27206742G>TCA373120905TEKc.2525G>T (p.Arg842Leu)
c.2396G>T (p.Arg799Leu)
c.2081G>T (p.Arg694Leu)
c.*1026G>T (n.*1026G>T)
c.2522G>T (p.Arg841Leu)
c.2393G>T (p.Arg798Leu)
dbSNP gnomAD v2 gnomAD v4
9g.27206743C>ACA464168301TEKc.2526C>A (p.Arg842=)
c.2397C>A (p.Arg799=)
c.2082C>A (p.Arg694=)
c.*1027C>A (n.*1027C>A)
c.2523C>A (p.Arg841=)
c.2394C>A (p.Arg798=)
9g.27206743C>GCA464168298TEKc.2526C>G (p.Arg842=)
c.2397C>G (p.Arg799=)
c.2082C>G (p.Arg694=)
c.*1027C>G (n.*1027C>G)
c.2523C>G (p.Arg841=)
c.2394C>G (p.Arg798=)
9g.27206743C>TCA464168300TEKc.2526C>T (p.Arg842=)
c.2397C>T (p.Arg799=)
c.2082C>T (p.Arg694=)
c.*1027C>T (n.*1027C>T)
c.2523C>T (p.Arg841=)
c.2394C>T (p.Arg798=)
9g.27206744A>CCA373120907TEKc.2527A>C (p.Ile843Leu)
c.2398A>C (p.Ile800Leu)
c.2083A>C (p.Ile695Leu)
c.*1028A>C (n.*1028A>C)
c.2524A>C (p.Ile842Leu)
c.2395A>C (p.Ile799Leu)
9g.27206744A>GCA373120909TEKc.2527A>G (p.Ile843Val)
c.2398A>G (p.Ile800Val)
c.2083A>G (p.Ile695Val)
c.*1028A>G (n.*1028A>G)
c.2524A>G (p.Ile842Val)
c.2395A>G (p.Ile799Val)
9g.27206744A>TCA373120910TEKc.2527A>T (p.Ile843Phe)
c.2398A>T (p.Ile800Phe)
c.2083A>T (p.Ile695Phe)
c.*1028A>T (n.*1028A>T)
c.2524A>T (p.Ile842Phe)
c.2395A>T (p.Ile799Phe)
9g.27206745T>ACA373120912TEKc.2528T>A (p.Ile843Asn)
c.2399T>A (p.Ile800Asn)
c.2084T>A (p.Ile695Asn)
c.*1029T>A (n.*1029T>A)
c.2525T>A (p.Ile842Asn)
c.2396T>A (p.Ile799Asn)
9g.27206745T>CCA373120914TEKc.2528T>C (p.Ile843Thr)
c.2399T>C (p.Ile800Thr)
c.2084T>C (p.Ile695Thr)
c.*1029T>C (n.*1029T>C)
c.2525T>C (p.Ile842Thr)
c.2396T>C (p.Ile799Thr)
9g.27206745T>GCA373120917TEKc.2528T>G (p.Ile843Ser)
c.2399T>G (p.Ile800Ser)
c.2084T>G (p.Ile695Ser)
c.*1029T>G (n.*1029T>G)
c.2525T>G (p.Ile842Ser)
c.2396T>G (p.Ile799Ser)
9g.27206746C>ACA464168304TEKc.2529C>A (p.Ile843=)
c.2400C>A (p.Ile800=)
c.2085C>A (p.Ile695=)
c.*1030C>A (n.*1030C>A)
c.2526C>A (p.Ile842=)
c.2397C>A (p.Ile799=)
9g.27206746C>GCA373120918TEKc.2529C>G (p.Ile843Met)
c.2400C>G (p.Ile800Met)
c.2085C>G (p.Ile695Met)
c.*1030C>G (n.*1030C>G)
c.2526C>G (p.Ile842Met)
c.2397C>G (p.Ile799Met)
9g.27206746C>TCA464168305TEKc.2529C>T (p.Ile843=)
c.2400C>T (p.Ile800=)
c.2085C>T (p.Ile695=)
c.*1030C>T (n.*1030C>T)
c.2526C>T (p.Ile842=)
c.2397C>T (p.Ile799=)
gnomAD v4
9g.27206747A>CCA373120921TEKc.2530A>C (p.Lys844Gln)
c.2401A>C (p.Lys801Gln)
c.2086A>C (p.Lys696Gln)
c.*1031A>C (n.*1031A>C)
c.2527A>C (p.Lys843Gln)
c.2398A>C (p.Lys800Gln)
9g.27206747A>GCA373120922TEKc.2530A>G (p.Lys844Glu)
c.2401A>G (p.Lys801Glu)
c.2086A>G (p.Lys696Glu)
c.*1031A>G (n.*1031A>G)
c.2527A>G (p.Lys843Glu)
c.2398A>G (p.Lys800Glu)
9g.27206747A>TCA373120924TEKc.2530A>T (p.Lys844Ter)
c.2401A>T (p.Lys801Ter)
c.2086A>T (p.Lys696Ter)
c.*1031A>T (n.*1031A>T)
c.2527A>T (p.Lys843Ter)
c.2398A>T (p.Lys800Ter)
9g.27206748A=CA1842005379TEKc.2531A= (p.Lys844=)
c.2402A= (p.Lys801=)
c.2087A= (p.Lys696=)
c.*1032A= (n.*1032A=)
c.2528A= (p.Lys843=)
c.2399A= (p.Lys800=)
9g.27206748A>CCA373120927TEKc.2531A>C (p.Lys844Thr)
c.2402A>C (p.Lys801Thr)
c.2087A>C (p.Lys696Thr)
c.*1032A>C (n.*1032A>C)
c.2528A>C (p.Lys843Thr)
c.2399A>C (p.Lys800Thr)
9g.27206748A>GCA373120930TEKc.2531A>G (p.Lys844Arg)
c.2402A>G (p.Lys801Arg)
c.2087A>G (p.Lys696Arg)
c.*1032A>G (n.*1032A>G)
c.2528A>G (p.Lys843Arg)
c.2399A>G (p.Lys800Arg)
dbSNP gnomAD v3 gnomAD v4
9g.27206748A>TCA373120928TEKc.2531A>T (p.Lys844Met)
c.2402A>T (p.Lys801Met)
c.2087A>T (p.Lys696Met)
c.*1032A>T (n.*1032A>T)
c.2528A>T (p.Lys843Met)
c.2399A>T (p.Lys800Met)
9g.27206749G>ACA191302080TEKc.2532G>A (p.Lys844=)
c.2403G>A (p.Lys801=)
c.2088G>A (p.Lys696=)
c.*1033G>A (n.*1033G>A)
c.2529G>A (p.Lys843=)
c.2400G>A (p.Lys800=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27206749G>CCA373120932TEKc.2532G>C (p.Lys844Asn)
c.2403G>C (p.Lys801Asn)
c.2088G>C (p.Lys696Asn)
c.*1033G>C (n.*1033G>C)
c.2529G>C (p.Lys843Asn)
c.2400G>C (p.Lys800Asn)
9g.27206749G=CA1842005380TEKc.2532G= (p.Lys844=)
c.2403G= (p.Lys801=)
c.2088G= (p.Lys696=)
c.*1033G= (n.*1033G=)
c.2529G= (p.Lys843=)
c.2400G= (p.Lys800=)
9g.27206749G>TCA373120934TEKc.2532G>T (p.Lys844Asn)
c.2403G>T (p.Lys801Asn)
c.2088G>T (p.Lys696Asn)
c.*1033G>T (n.*1033G>T)
c.2529G>T (p.Lys843Asn)
c.2400G>T (p.Lys800Asn)
9g.27206750A>CCA373120935TEKc.2533A>C (p.Lys845Gln)
c.2404A>C (p.Lys802Gln)
c.2089A>C (p.Lys697Gln)
c.*1034A>C (n.*1034A>C)
c.2530A>C (p.Lys844Gln)
c.2401A>C (p.Lys801Gln)
9g.27206750A>GCA373120936TEKc.2533A>G (p.Lys845Glu)
c.2404A>G (p.Lys802Glu)
c.2089A>G (p.Lys697Glu)
c.*1034A>G (n.*1034A>G)
c.2530A>G (p.Lys844Glu)
c.2401A>G (p.Lys801Glu)
9g.27206750A>TCA373120938TEKc.2533A>T (p.Lys845Ter)
c.2404A>T (p.Lys802Ter)
c.2089A>T (p.Lys697Ter)
c.*1034A>T (n.*1034A>T)
c.2530A>T (p.Lys844Ter)
c.2401A>T (p.Lys801Ter)
9g.27206751A>CCA373120939TEKc.2534A>C (p.Lys845Thr)
c.2405A>C (p.Lys802Thr)
c.2090A>C (p.Lys697Thr)
c.*1035A>C (n.*1035A>C)
c.2531A>C (p.Lys844Thr)
c.2402A>C (p.Lys801Thr)
9g.27206751A>GCA373120941TEKc.2534A>G (p.Lys845Arg)
c.2405A>G (p.Lys802Arg)
c.2090A>G (p.Lys697Arg)
c.*1035A>G (n.*1035A>G)
c.2531A>G (p.Lys844Arg)
c.2402A>G (p.Lys801Arg)
9g.27206751A>TCA373120943TEKc.2534A>T (p.Lys845Met)
c.2405A>T (p.Lys802Met)
c.2090A>T (p.Lys697Met)
c.*1035A>T (n.*1035A>T)
c.2531A>T (p.Lys844Met)
c.2402A>T (p.Lys801Met)
9g.27206752G>ACA464168309TEKc.2535G>A (p.Lys845=)
c.2406G>A (p.Lys802=)
c.2091G>A (p.Lys697=)
c.*1036G>A (n.*1036G>A)
c.2532G>A (p.Lys844=)
c.2403G>A (p.Lys801=)
gnomAD v4
9g.27206752G>CCA373120944TEKc.2535G>C (p.Lys845Asn)
c.2406G>C (p.Lys802Asn)
c.2091G>C (p.Lys697Asn)
c.*1036G>C (n.*1036G>C)
c.2532G>C (p.Lys844Asn)
c.2403G>C (p.Lys801Asn)
9g.27206752G>TCA373120945TEKc.2535G>T (p.Lys845Asn)
c.2406G>T (p.Lys802Asn)
c.2091G>T (p.Lys697Asn)
c.*1036G>T (n.*1036G>T)
c.2532G>T (p.Lys844Asn)
c.2403G>T (p.Lys801Asn)
9g.27206753G>ACA191302093TEKc.2536G>A (p.Asp846Asn)
c.2407G>A (p.Asp803Asn)
c.2092G>A (p.Asp698Asn)
c.*1037G>A (n.*1037G>A)
c.2533G>A (p.Asp845Asn)
c.2404G>A (p.Asp802Asn)
dbSNP gnomAD v2 gnomAD v4
9g.27206753G>CCA373120947TEKc.2536G>C (p.Asp846His)
c.2407G>C (p.Asp803His)
c.2092G>C (p.Asp698His)
c.*1037G>C (n.*1037G>C)
c.2533G>C (p.Asp845His)
c.2404G>C (p.Asp802His)
9g.27206753G=CA1842005381TEKc.2536G= (p.Asp846=)
c.2407G= (p.Asp803=)
c.2092G= (p.Asp698=)
c.*1037G= (n.*1037G=)
c.2533G= (p.Asp845=)
c.2404G= (p.Asp802=)
9g.27206753G>TCA373120946TEKc.2536G>T (p.Asp846Tyr)
c.2407G>T (p.Asp803Tyr)
c.2092G>T (p.Asp698Tyr)
c.*1037G>T (n.*1037G>T)
c.2533G>T (p.Asp845Tyr)
c.2404G>T (p.Asp802Tyr)
9g.27206754A>CCA373120953TEKc.2537A>C (p.Asp846Ala)
c.2408A>C (p.Asp803Ala)
c.2093A>C (p.Asp698Ala)
c.*1038A>C (n.*1038A>C)
c.2534A>C (p.Asp845Ala)
c.2405A>C (p.Asp802Ala)
9g.27206754A>GCA373120949TEKc.2537A>G (p.Asp846Gly)
c.2408A>G (p.Asp803Gly)
c.2093A>G (p.Asp698Gly)
c.*1038A>G (n.*1038A>G)
c.2534A>G (p.Asp845Gly)
c.2405A>G (p.Asp802Gly)
9g.27206754A>TCA373120951TEKc.2537A>T (p.Asp846Val)
c.2408A>T (p.Asp803Val)
c.2093A>T (p.Asp698Val)
c.*1038A>T (n.*1038A>T)
c.2534A>T (p.Asp845Val)
c.2405A>T (p.Asp802Val)
9g.27206755T>ACA373120954TEKc.2538T>A (p.Asp846Glu)
c.2409T>A (p.Asp803Glu)
c.2094T>A (p.Asp698Glu)
c.*1039T>A (n.*1039T>A)
c.2535T>A (p.Asp845Glu)
c.2406T>A (p.Asp802Glu)
9g.27206755T>CCA464168316TEKc.2538T>C (p.Asp846=)
c.2409T>C (p.Asp803=)
c.2094T>C (p.Asp698=)
c.*1039T>C (n.*1039T>C)
c.2535T>C (p.Asp845=)
c.2406T>C (p.Asp802=)
9g.27206755T>GCA373120955TEKc.2538T>G (p.Asp846Glu)
c.2409T>G (p.Asp803Glu)
c.2094T>G (p.Asp698Glu)
c.*1039T>G (n.*1039T>G)
c.2535T>G (p.Asp845Glu)
c.2406T>G (p.Asp802Glu)
9g.27206756G>ACA373120956TEKc.2539G>A (p.Gly847Arg)
c.2410G>A (p.Gly804Arg)
c.2095G>A (p.Gly699Arg)
c.*1040G>A (n.*1040G>A)
c.2536G>A (p.Gly846Arg)
c.2407G>A (p.Gly803Arg)
dbSNP gnomAD v4
9g.27206756G>CCA373120958TEKc.2539G>C (p.Gly847Arg)
c.2410G>C (p.Gly804Arg)
c.2095G>C (p.Gly699Arg)
c.*1040G>C (n.*1040G>C)
c.2536G>C (p.Gly846Arg)
c.2407G>C (p.Gly803Arg)
9g.27206756G=CA1842005382TEKc.2539G= (p.Gly847=)
c.2410G= (p.Gly804=)
c.2095G= (p.Gly699=)
c.*1040G= (n.*1040G=)
c.2536G= (p.Gly846=)
c.2407G= (p.Gly803=)
9g.27206756G>TCA373120959TEKc.2539G>T (p.Gly847Trp)
c.2410G>T (p.Gly804Trp)
c.2095G>T (p.Gly699Trp)
c.*1040G>T (n.*1040G>T)
c.2536G>T (p.Gly846Trp)
c.2407G>T (p.Gly803Trp)
9g.27206757G>ACA373120960TEKc.2540G>A (p.Gly847Glu)
c.2411G>A (p.Gly804Glu)
c.2096G>A (p.Gly699Glu)
c.*1041G>A (n.*1041G>A)
c.2537G>A (p.Gly846Glu)
c.2408G>A (p.Gly803Glu)
9g.27206757G>CCA373120962TEKc.2540G>C (p.Gly847Ala)
c.2411G>C (p.Gly804Ala)
c.2096G>C (p.Gly699Ala)
c.*1041G>C (n.*1041G>C)
c.2537G>C (p.Gly846Ala)
c.2408G>C (p.Gly803Ala)
9g.27206757G=CA1842005383TEKc.2540G= (p.Gly847=)
c.2411G= (p.Gly804=)
c.2096G= (p.Gly699=)
c.*1041G= (n.*1041G=)
c.2537G= (p.Gly846=)
c.2408G= (p.Gly803=)
9g.27206757G>TCA191302101TEKc.2540G>T (p.Gly847Val)
c.2411G>T (p.Gly804Val)
c.2096G>T (p.Gly699Val)
c.*1041G>T (n.*1041G>T)
c.2537G>T (p.Gly846Val)
c.2408G>T (p.Gly803Val)
dbSNP
9g.27206758G>ACA464168320TEKc.2541G>A (p.Gly847=)
c.2412G>A (p.Gly804=)
c.2097G>A (p.Gly699=)
c.*1042G>A (n.*1042G>A)
c.2538G>A (p.Gly846=)
c.2409G>A (p.Gly803=)
gnomAD v4
9g.27206758G>CCA464168321TEKc.2541G>C (p.Gly847=)
c.2412G>C (p.Gly804=)
c.2097G>C (p.Gly699=)
c.*1042G>C (n.*1042G>C)
c.2538G>C (p.Gly846=)
c.2409G>C (p.Gly803=)
9g.27206758G>TCA464168322TEKc.2541G>T (p.Gly847=)
c.2412G>T (p.Gly804=)
c.2097G>T (p.Gly699=)
c.*1042G>T (n.*1042G>T)
c.2538G>T (p.Gly846=)
c.2409G>T (p.Gly803=)
9g.27206759T>ACA373120964TEKc.2542T>A (p.Leu848Ile)
c.2413T>A (p.Leu805Ile)
c.2098T>A (p.Leu700Ile)
c.*1043T>A (n.*1043T>A)
c.2539T>A (p.Leu847Ile)
c.2410T>A (p.Leu804Ile)
9g.27206759T>CCA464168323TEKc.2542T>C (p.Leu848=)
c.2413T>C (p.Leu805=)
c.2098T>C (p.Leu700=)
c.*1043T>C (n.*1043T>C)
c.2539T>C (p.Leu847=)
c.2410T>C (p.Leu804=)
gnomAD v4
9g.27206759T>GCA373120967TEKc.2542T>G (p.Leu848Val)
c.2413T>G (p.Leu805Val)
c.2098T>G (p.Leu700Val)
c.*1043T>G (n.*1043T>G)
c.2539T>G (p.Leu847Val)
c.2410T>G (p.Leu804Val)
9g.27206760T>ACA373120972TEKc.2543T>A (p.Leu848Ter)
c.2414T>A (p.Leu805Ter)
c.2099T>A (p.Leu700Ter)
c.*1044T>A (n.*1044T>A)
c.2540T>A (p.Leu847Ter)
c.2411T>A (p.Leu804Ter)
9g.27206760T>CCA373120970TEKc.2543T>C (p.Leu848Ser)
c.2414T>C (p.Leu805Ser)
c.2099T>C (p.Leu700Ser)
c.*1044T>C (n.*1044T>C)
c.2540T>C (p.Leu847Ser)
c.2411T>C (p.Leu804Ser)
9g.27206760T>GCA373120969TEKc.2543T>G (p.Leu848Ter)
c.2414T>G (p.Leu805Ter)
c.2099T>G (p.Leu700Ter)
c.*1044T>G (n.*1044T>G)
c.2540T>G (p.Leu847Ter)
c.2411T>G (p.Leu804Ter)
9g.27206761A>CCA373120973TEKc.2544A>C (p.Leu848Phe)
c.2415A>C (p.Leu805Phe)
c.2100A>C (p.Leu700Phe)
c.*1045A>C (n.*1045A>C)
c.2541A>C (p.Leu847Phe)
c.2412A>C (p.Leu804Phe)
9g.27206761A>GCA464168324TEKc.2544A>G (p.Leu848=)
c.2415A>G (p.Leu805=)
c.2100A>G (p.Leu700=)
c.*1045A>G (n.*1045A>G)
c.2541A>G (p.Leu847=)
c.2412A>G (p.Leu804=)
9g.27206761A>TCA373120975TEKc.2544A>T (p.Leu848Phe)
c.2415A>T (p.Leu805Phe)
c.2100A>T (p.Leu700Phe)
c.*1045A>T (n.*1045A>T)
c.2541A>T (p.Leu847Phe)
c.2412A>T (p.Leu804Phe)
9g.27206762C>ACA464168328TEKc.2545C>A (p.Arg849=)
c.2416C>A (p.Arg806=)
c.2101C>A (p.Arg701=)
c.*1046C>A (n.*1046C>A)
c.2542C>A (p.Arg848=)
c.2413C>A (p.Arg805=)
9g.27206762C=CA1842005384TEKc.2545C= (p.Arg849=)
c.2416C= (p.Arg806=)
c.2101C= (p.Arg701=)
c.*1046C= (n.*1046C=)
c.2542C= (p.Arg848=)
c.2413C= (p.Arg805=)
9g.27206762C>GCA373120977TEKc.2545C>G (p.Arg849Gly)
c.2416C>G (p.Arg806Gly)
c.2101C>G (p.Arg701Gly)
c.*1046C>G (n.*1046C>G)
c.2542C>G (p.Arg848Gly)
c.2413C>G (p.Arg805Gly)
9g.27206762C>TCA340900TEKc.2545C>T (p.Arg849Trp)
c.2416C>T (p.Arg806Trp)
c.2101C>T (p.Arg701Trp)
c.*1046C>T (n.*1046C>T)
c.2542C>T (p.Arg848Trp)
c.2413C>T (p.Arg805Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched