Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.6151807G>TCA2769867784F13A1c.2045+6C>A (n.2045+6C>A)
c.2207+6C>A (n.2207+6C>A)
6g.6151808T>CCA1607955587F13A1c.2045+5A>G (n.2045+5A>G)
c.2207+5A>G (n.2207+5A>G)
dbSNP
6g.6151808T=CA1607955585F13A1c.2045+5A= (n.2045+5A=)
c.2207+5A= (n.2207+5A=)
6g.6151811A>CCA362657143F13A1c.2045+2T>G (n.2045+2T>G)
c.2207+2T>G (n.2207+2T>G)
6g.6151811A>GCA362657144F13A1c.2045+2T>C (n.2045+2T>C)
c.2207+2T>C (n.2207+2T>C)
6g.6151811A>TCA362657145F13A1c.2045+2T>A (n.2045+2T>A)
c.2207+2T>A (n.2207+2T>A)
6g.6151812C>ACA362657146F13A1c.2045+1G>T (n.2045+1G>T)
c.2207+1G>T (n.2207+1G>T)
6g.6151812C>GCA362657147F13A1c.2045+1G>C (n.2045+1G>C)
c.2207+1G>C (n.2207+1G>C)
6g.6151812C>TCA362657148F13A1c.2045+1G>A (n.2045+1G>A)
c.2207+1G>A (n.2207+1G>A)
6g.6151813C>ACA3624167F13A1c.2045G>T (p.Arg682Leu)
c.2207G>T (p.Arg736Leu)
dbSNP ExAC gnomAD v2
6g.6151813C=CA1607955594F13A1c.2045G= (p.Arg682=)
c.2207G= (p.Arg736=)
6g.6151813C>GCA362657149F13A1c.2045G>C (p.Arg682Pro)
c.2207G>C (p.Arg736Pro)
6g.6151813C>TCA126612F13A1c.2045G>A (p.Arg682His)
c.2207G>A (p.Arg736His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6151813_6151814delinsCGCA1607955599F13A1c.2044_2045delinsCG (p.Arg682=)
c.2206_2207delinsCG (p.Arg736=)
6g.6151814G>ACA3624168F13A1c.2044C>T (p.Arg682Cys)
c.2206C>T (p.Arg736Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151814G>CCA362657150F13A1c.2044C>G (p.Arg682Gly)
c.2206C>G (p.Arg736Gly)
6g.6151814G=CA1607955607F13A1c.2044C= (p.Arg682=)
c.2206C= (p.Arg736=)
6g.6151814G>TCA362657151F13A1c.2044C>A (p.Arg682Ser)
c.2206C>A (p.Arg736Ser)
6g.6151815delCA826662472F13A1c.2044del (p.Arg682ValfsTer25)
c.2206del (p.Arg736ValfsTer25)
dbSNP
6g.6151815G>ACA448498627F13A1c.2043C>T (p.Phe681=)
c.2205C>T (p.Phe735=)
6g.6151815G>CCA362657152F13A1c.2043C>G (p.Phe681Leu)
c.2205C>G (p.Phe735Leu)
6g.6151815G>TCA362657153F13A1c.2043C>A (p.Phe681Leu)
c.2205C>A (p.Phe735Leu)
6g.6151816A=CA1607955610F13A1c.2042T= (p.Phe681=)
c.2204T= (p.Phe735=)
6g.6151816A>CCA362657154F13A1c.2042T>G (p.Phe681Cys)
c.2204T>G (p.Phe735Cys)
dbSNP gnomAD v2 gnomAD v4
6g.6151816A>GCA362657156F13A1c.2042T>C (p.Phe681Ser)
c.2204T>C (p.Phe735Ser)
6g.6151816A>TCA362657155F13A1c.2042T>A (p.Phe681Tyr)
c.2204T>A (p.Phe735Tyr)
6g.6151817A=CA1607955612F13A1c.2041T= (p.Phe681=)
c.2203T= (p.Phe735=)
6g.6151817A>CCA362657157F13A1c.2041T>G (p.Phe681Val)
c.2203T>G (p.Phe735Val)
dbSNP
6g.6151817A>GCA362657158F13A1c.2041T>C (p.Phe681Leu)
c.2203T>C (p.Phe735Leu)
6g.6151817A>TCA362657159F13A1c.2041T>A (p.Phe681Ile)
c.2203T>A (p.Phe735Ile)
6g.6151818C>ACA362657160F13A1c.2040G>T (p.Met680Ile)
c.2202G>T (p.Met734Ile)
6g.6151818C>GCA362657161F13A1c.2040G>C (p.Met680Ile)
c.2202G>C (p.Met734Ile)
6g.6151818C>TCA362657162F13A1c.2040G>A (p.Met680Ile)
c.2202G>A (p.Met734Ile)
6g.6151819A>CCA362657165F13A1c.2039T>G (p.Met680Arg)
c.2201T>G (p.Met734Arg)
6g.6151819A>GCA362657163F13A1c.2039T>C (p.Met680Thr)
c.2201T>C (p.Met734Thr)
6g.6151819A>TCA362657164F13A1c.2039T>A (p.Met680Lys)
c.2201T>A (p.Met734Lys)
6g.6151819_6151822delinsATCTCA1607955614F13A1c.2036_2039delinsAGAT (p.Lys679=)
c.2198_2201delinsAGAT (p.Lys733=)
6g.6151820T>ACA362657166F13A1c.2038A>T (p.Met680Leu)
c.2200A>T (p.Met734Leu)
6g.6151820T>CCA362657167F13A1c.2038A>G (p.Met680Val)
c.2200A>G (p.Met734Val)
6g.6151820T>GCA362657168F13A1c.2038A>C (p.Met680Leu)
c.2200A>C (p.Met734Leu)
6g.6151825_6151827delCA565088401F13A1c.2036_2038del (p.Lys679del)
c.2198_2200del (p.Lys733del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6151821C>ACA362657169F13A1c.2037G>T (p.Lys679Asn)
c.2199G>T (p.Lys733Asn)
6g.6151821C=CA1607955619F13A1c.2037G= (p.Lys679=)
c.2199G= (p.Lys733=)
6g.6151821C>GCA362657170F13A1c.2037G>C (p.Lys679Asn)
c.2199G>C (p.Lys733Asn)
gnomAD v4
6g.6151821C>TCA448498628F13A1c.2037G>A (p.Lys679=)
c.2199G>A (p.Lys733=)
dbSNP gnomAD v2 gnomAD v4
6g.6151822T>ACA3624169F13A1c.2036A>T (p.Lys679Met)
c.2198A>T (p.Lys733Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151822T>CCA362657172F13A1c.2036A>G (p.Lys679Arg)
c.2198A>G (p.Lys733Arg)
6g.6151822T>GCA362657171F13A1c.2036A>C (p.Lys679Thr)
c.2198A>C (p.Lys733Thr)
6g.6151822T=CA1607955623F13A1c.2036A= (p.Lys679=)
c.2198A= (p.Lys733=)
6g.6151823T>ACA362657173F13A1c.2035A>T (p.Lys679Ter)
c.2197A>T (p.Lys733Ter)
6g.6151823T>CCA362657174F13A1c.2035A>G (p.Lys679Glu)
c.2197A>G (p.Lys733Glu)
gnomAD v4
6g.6151823T>GCA362657175F13A1c.2035A>C (p.Lys679Gln)
c.2197A>C (p.Lys733Gln)
6g.6151824C>ACA362657176F13A1c.2034G>T (p.Lys678Asn)
c.2196G>T (p.Lys732Asn)
6g.6151824C>GCA362657177F13A1c.2034G>C (p.Lys678Asn)
c.2196G>C (p.Lys732Asn)
gnomAD v4
6g.6151824C>TCA448498629F13A1c.2034G>A (p.Lys678=)
c.2196G>A (p.Lys732=)
gnomAD v4
6g.6151825T>ACA362657178F13A1c.2033A>T (p.Lys678Met)
c.2195A>T (p.Lys732Met)
6g.6151825T>CCA362657179F13A1c.2033A>G (p.Lys678Arg)
c.2195A>G (p.Lys732Arg)
6g.6151825T>GCA362657180F13A1c.2033A>C (p.Lys678Thr)
c.2195A>C (p.Lys732Thr)
6g.6151826T>ACA362657181F13A1c.2032A>T (p.Lys678Ter)
c.2194A>T (p.Lys732Ter)
6g.6151826T>CCA362657182F13A1c.2032A>G (p.Lys678Glu)
c.2194A>G (p.Lys732Glu)
6g.6151826T>GCA362657183F13A1c.2032A>C (p.Lys678Gln)
c.2194A>C (p.Lys732Gln)
6g.6151827C>ACA362657184F13A1c.2031G>T (p.Met677Ile)
c.2193G>T (p.Met731Ile)
6g.6151827C=CA1607955628F13A1c.2031G= (p.Met677=)
c.2193G= (p.Met731=)
6g.6151827C>GCA362657185F13A1c.2031G>C (p.Met677Ile)
c.2193G>C (p.Met731Ile)
6g.6151827C>TCA3624170F13A1c.2031G>A (p.Met677Ile)
c.2193G>A (p.Met731Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151828A=CA1607955630F13A1c.2030T= (p.Met677=)
c.2192T= (p.Met731=)
6g.6151828A>CCA362657186F13A1c.2030T>G (p.Met677Arg)
c.2192T>G (p.Met731Arg)
6g.6151828A>GCA133896945F13A1c.2030T>C (p.Met677Thr)
c.2192T>C (p.Met731Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6151828A>TCA362657187F13A1c.2030T>A (p.Met677Lys)
c.2192T>A (p.Met731Lys)
6g.6151829T>ACA362657188F13A1c.2029A>T (p.Met677Leu)
c.2191A>T (p.Met731Leu)
gnomAD v4
6g.6151829T>CCA3624171F13A1c.2029A>G (p.Met677Val)
c.2191A>G (p.Met731Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151829T>GCA362657189F13A1c.2029A>C (p.Met677Leu)
c.2191A>C (p.Met731Leu)
6g.6151829T=CA1607955635F13A1c.2029A= (p.Met677=)
c.2191A= (p.Met731=)
6g.6151830T>ACA448498631F13A1c.2028A>T (p.Pro676=)
c.2190A>T (p.Pro730=)
6g.6151830T>CCA133896956F13A1c.2028A>G (p.Pro676=)
c.2190A>G (p.Pro730=)
dbSNP
6g.6151830T>GCA448498630F13A1c.2028A>C (p.Pro676=)
c.2190A>C (p.Pro730=)
6g.6151830T=CA1607955642F13A1c.2028A= (p.Pro676=)
c.2190A= (p.Pro730=)
6g.6151831G>ACA362657190F13A1c.2027C>T (p.Pro676Leu)
c.2189C>T (p.Pro730Leu)
6g.6151831G>CCA362657191F13A1c.2027C>G (p.Pro676Arg)
c.2189C>G (p.Pro730Arg)
6g.6151831G>TCA362657192F13A1c.2027C>A (p.Pro676Gln)
c.2189C>A (p.Pro730Gln)
COSMIC
6g.6151832G>ACA362657193F13A1c.2026C>T (p.Pro676Ser)
c.2188C>T (p.Pro730Ser)
dbSNP gnomAD v3 gnomAD v4
6g.6151832G>CCA362657194F13A1c.2026C>G (p.Pro676Ala)
c.2188C>G (p.Pro730Ala)
6g.6151832G=CA1607955644F13A1c.2026C= (p.Pro676=)
c.2188C= (p.Pro730=)
6g.6151832G>TCA362657195F13A1c.2026C>A (p.Pro676Thr)
c.2188C>A (p.Pro730Thr)
gnomAD v4
6g.6151833T>ACA362657196F13A1c.2025A>T (p.Arg675Ser)
c.2187A>T (p.Arg729Ser)
6g.6151833T>CCA448498632F13A1c.2025A>G (p.Arg675=)
c.2187A>G (p.Arg729=)
6g.6151833T>GCA362657197F13A1c.2025A>C (p.Arg675Ser)
c.2187A>C (p.Arg729Ser)
6g.6151833_6151836dupCA2695205928F13A1c.2022_2025dup (p.Pro676LysfsTer9)
c.2184_2187dup (p.Pro730LysfsTer9)
6g.6151834C>ACA362657198F13A1c.2024G>T (p.Arg675Ile)
c.2186G>T (p.Arg729Ile)
dbSNP gnomAD v2 gnomAD v4
6g.6151834C=CA1607955647F13A1c.2024G= (p.Arg675=)
c.2186G= (p.Arg729=)
6g.6151834C>GCA362657199F13A1c.2024G>C (p.Arg675Thr)
c.2186G>C (p.Arg729Thr)
6g.6151834C>TCA3624172F13A1c.2024G>A (p.Arg675Lys)
c.2186G>A (p.Arg729Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6151835T>ACA362657200F13A1c.2023A>T (p.Arg675Ter)
c.2185A>T (p.Arg729Ter)
6g.6151835T>CCA362657201F13A1c.2023A>G (p.Arg675Gly)
c.2185A>G (p.Arg729Gly)
6g.6151835T>GCA448498633F13A1c.2023A>C (p.Arg675=)
c.2185A>C (p.Arg729=)
gnomAD v4
6g.6151836T>ACA448498634F13A1c.2022A>T (p.Thr674=)
c.2184A>T (p.Thr728=)
6g.6151836T>CCA448498636F13A1c.2022A>G (p.Thr674=)
c.2184A>G (p.Thr728=)
dbSNP gnomAD v2 gnomAD v4
6g.6151836T>GCA448498635F13A1c.2022A>C (p.Thr674=)
c.2184A>C (p.Thr728=)
6g.6151836T=CA1607955650F13A1c.2022A= (p.Thr674=)
c.2184A= (p.Thr728=)
6g.6151837G>ACA362657202F13A1c.2021C>T (p.Thr674Ile)
c.2183C>T (p.Thr728Ile)
6g.6151837G>CCA362657203F13A1c.2021C>G (p.Thr674Arg)
c.2183C>G (p.Thr728Arg)
gnomAD v4
6g.6151837G>TCA362657204F13A1c.2021C>A (p.Thr674Lys)
c.2183C>A (p.Thr728Lys)
6g.6151838T>ACA362657205F13A1c.2020A>T (p.Thr674Ser)
c.2182A>T (p.Thr728Ser)
6g.6151838T>CCA362657206F13A1c.2020A>G (p.Thr674Ala)
c.2182A>G (p.Thr728Ala)
6g.6151838T>GCA362657207F13A1c.2020A>C (p.Thr674Pro)
c.2182A>C (p.Thr728Pro)
6g.6151839T>ACA448498637F13A1c.2019A>T (p.Val673=)
c.2181A>T (p.Val727=)
6g.6151839T>CCA448498638F13A1c.2019A>G (p.Val673=)
c.2181A>G (p.Val727=)
6g.6151839T>GCA448498639F13A1c.2019A>C (p.Val673=)
c.2181A>C (p.Val727=)
6g.6151840A>CCA362657209F13A1c.2018T>G (p.Val673Gly)
c.2180T>G (p.Val727Gly)
6g.6151840A>GCA362657210F13A1c.2018T>C (p.Val673Ala)
c.2180T>C (p.Val727Ala)
6g.6151840A>TCA362657208F13A1c.2018T>A (p.Val673Glu)
c.2180T>A (p.Val727Glu)
6g.6151841C>ACA362657211F13A1c.2017G>T (p.Val673Leu)
c.2179G>T (p.Val727Leu)
6g.6151841C=CA1607955653F13A1c.2017G= (p.Val673=)
c.2179G= (p.Val727=)
6g.6151841C>GCA362657212F13A1c.2017G>C (p.Val673Leu)
c.2179G>C (p.Val727Leu)
6g.6151841C>TCA3624173F13A1c.2017G>A (p.Val673Ile)
c.2179G>A (p.Val727Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151842T>ACA448498640F13A1c.2016A>T (p.Gly672=)
c.2178A>T (p.Gly726=)
dbSNP gnomAD v2 gnomAD v4
6g.6151842T>CCA448498641F13A1c.2016A>G (p.Gly672=)
c.2178A>G (p.Gly726=)
gnomAD v4
6g.6151842T>GCA448498642F13A1c.2016A>C (p.Gly672=)
c.2178A>C (p.Gly726=)
6g.6151842T=CA1607955656F13A1c.2016A= (p.Gly672=)
c.2178A= (p.Gly726=)
6g.6151843C>ACA362657213F13A1c.2015G>T (p.Gly672Val)
c.2177G>T (p.Gly726Val)
6g.6151843C>GCA362657214F13A1c.2015G>C (p.Gly672Ala)
c.2177G>C (p.Gly726Ala)
6g.6151843C>TCA362657215F13A1c.2015G>A (p.Gly672Glu)
c.2177G>A (p.Gly726Glu)
COSMIC
6g.6151844C>ACA362657218F13A1c.2014G>T (p.Gly672Ter)
c.2176G>T (p.Gly726Ter)
6g.6151844C>GCA362657216F13A1c.2014G>C (p.Gly672Arg)
c.2176G>C (p.Gly726Arg)
6g.6151844C>TCA362657217F13A1c.2014G>A (p.Gly672Arg)
c.2176G>A (p.Gly726Arg)
6g.6151845A>CCA448498643F13A1c.2013T>G (p.Pro671=)
c.2175T>G (p.Pro725=)
6g.6151845A>GCA448498644F13A1c.2013T>C (p.Pro671=)
c.2175T>C (p.Pro725=)
6g.6151845A>TCA448498645F13A1c.2013T>A (p.Pro671=)
c.2175T>A (p.Pro725=)
6g.6151846G>ACA362657220F13A1c.2012C>T (p.Pro671Leu)
c.2174C>T (p.Pro725Leu)
6g.6151846G>CCA362657221F13A1c.2012C>G (p.Pro671Arg)
c.2174C>G (p.Pro725Arg)
6g.6151846G=CA1607955659F13A1c.2012C= (p.Pro671=)
c.2174C= (p.Pro725=)
6g.6151846G>TCA362657222F13A1c.2012C>A (p.Pro671His)
c.2174C>A (p.Pro725His)
dbSNP gnomAD v4
6g.6151847G>ACA362657223F13A1c.2011C>T (p.Pro671Ser)
c.2173C>T (p.Pro725Ser)
COSMIC
6g.6151847G>CCA362657224F13A1c.2011C>G (p.Pro671Ala)
c.2173C>G (p.Pro725Ala)
6g.6151847G>TCA362657225F13A1c.2011C>A (p.Pro671Thr)
c.2173C>A (p.Pro725Thr)
6g.6151848A=CA1607955661F13A1c.2010T= (p.Gly670=)
c.2172T= (p.Gly724=)
6g.6151848A>CCA448498646F13A1c.2010T>G (p.Gly670=)
c.2172T>G (p.Gly724=)
dbSNP gnomAD v4
6g.6151848A>GCA448498647F13A1c.2010T>C (p.Gly670=)
c.2172T>C (p.Gly724=)
6g.6151848A>TCA448498648F13A1c.2010T>A (p.Gly670=)
c.2172T>A (p.Gly724=)
6g.6151849C>ACA362657226F13A1c.2009G>T (p.Gly670Val)
c.2171G>T (p.Gly724Val)
6g.6151849C=CA1607955664F13A1c.2009G= (p.Gly670=)
c.2171G= (p.Gly724=)
6g.6151849C>GCA362657227F13A1c.2009G>C (p.Gly670Ala)
c.2171G>C (p.Gly724Ala)
6g.6151849C>TCA133896973F13A1c.2009G>A (p.Gly670Asp)
c.2171G>A (p.Gly724Asp)
dbSNP gnomAD v2 gnomAD v4
6g.6151850C>ACA362657228F13A1c.2008G>T (p.Gly670Cys)
c.2170G>T (p.Gly724Cys)
6g.6151850C=CA1607955667F13A1c.2008G= (p.Gly670=)
c.2170G= (p.Gly724=)
6g.6151850C>GCA362657229F13A1c.2008G>C (p.Gly670Arg)
c.2170G>C (p.Gly724Arg)
6g.6151850C>TCA362657230F13A1c.2008G>A (p.Gly670Ser)
c.2170G>A (p.Gly724Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.6151851A>CCA362657231F13A1c.2007T>G (p.Asp669Glu)
c.2169T>G (p.Asp723Glu)
6g.6151851A>GCA448498649F13A1c.2007T>C (p.Asp669=)
c.2169T>C (p.Asp723=)
6g.6151851A>TCA362657232F13A1c.2007T>A (p.Asp669Glu)
c.2169T>A (p.Asp723Glu)
6g.6151852T>ACA362657233F13A1c.2006A>T (p.Asp669Val)
c.2168A>T (p.Asp723Val)
COSMIC
6g.6151852T>CCA3624174F13A1c.2006A>G (p.Asp669Gly)
c.2168A>G (p.Asp723Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151852T>GCA362657234F13A1c.2006A>C (p.Asp669Ala)
c.2168A>C (p.Asp723Ala)
6g.6151852T=CA1607955671F13A1c.2006A= (p.Asp669=)
c.2168A= (p.Asp723=)
6g.6151853C>ACA362657235F13A1c.2005G>T (p.Asp669Tyr)
c.2167G>T (p.Asp723Tyr)
6g.6151853C>GCA362657236F13A1c.2005G>C (p.Asp669His)
c.2167G>C (p.Asp723His)
6g.6151853C>TCA362657237F13A1c.2005G>A (p.Asp669Asn)
c.2167G>A (p.Asp723Asn)
6g.6151854C>ACA448498650F13A1c.2004G>T (p.Leu668=)
c.2166G>T (p.Leu722=)
6g.6151854C=CA1607955673F13A1c.2004G= (p.Leu668=)
c.2166G= (p.Leu722=)
6g.6151854C>GCA448498651F13A1c.2004G>C (p.Leu668=)
c.2166G>C (p.Leu722=)
6g.6151854C>TCA3624175F13A1c.2004G>A (p.Leu668=)
c.2166G>A (p.Leu722=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151855A=CA1607955676F13A1c.2003T= (p.Leu668=)
c.2165T= (p.Leu722=)
6g.6151855A>CCA362657238F13A1c.2003T>G (p.Leu668Arg)
c.2165T>G (p.Leu722Arg)
6g.6151855A>GCA362657240F13A1c.2003T>C (p.Leu668Pro)
c.2165T>C (p.Leu722Pro)
dbSNP
6g.6151855A>TCA362657239F13A1c.2003T>A (p.Leu668Gln)
c.2165T>A (p.Leu722Gln)
6g.6151855_6151856delCA2695205929F13A1c.2002_2003del (p.Leu668GlyfsTer15)
c.2164_2165del (p.Leu722GlyfsTer15)
6g.6151856G>ACA448498652F13A1c.2002C>T (p.Leu668=)
c.2164C>T (p.Leu722=)
6g.6151856G>CCA3624176F13A1c.2002C>G (p.Leu668Val)
c.2164C>G (p.Leu722Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151856G=CA1607955679F13A1c.2002C= (p.Leu668=)
c.2164C= (p.Leu722=)
6g.6151856G>TCA362657241F13A1c.2002C>A (p.Leu668Met)
c.2164C>A (p.Leu722Met)
gnomAD v4
6g.6151857G>ACA448498653F13A1c.2001C>T (p.His667=)
c.2163C>T (p.His721=)
6g.6151857G>CCA362657242F13A1c.2001C>G (p.His667Gln)
c.2163C>G (p.His721Gln)
gnomAD v4
6g.6151857G>TCA362657243F13A1c.2001C>A (p.His667Gln)
c.2163C>A (p.His721Gln)
6g.6151858T>ACA362657244F13A1c.2000A>T (p.His667Leu)
c.2162A>T (p.His721Leu)
6g.6151858T>CCA3624177F13A1c.2000A>G (p.His667Arg)
c.2162A>G (p.His721Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6151858T>GCA362657245F13A1c.2000A>C (p.His667Pro)
c.2162A>C (p.His721Pro)
COSMIC
6g.6151858T=CA1607955682F13A1c.2000A= (p.His667=)
c.2162A= (p.His721=)
6g.6151859G>ACA362657246F13A1c.1999C>T (p.His667Tyr)
c.2161C>T (p.His721Tyr)
6g.6151859G>CCA362657247F13A1c.1999C>G (p.His667Asp)
c.2161C>G (p.His721Asp)
6g.6151859G>TCA362657248F13A1c.1999C>A (p.His667Asn)
c.2161C>A (p.His721Asn)
6g.6151860T>ACA448498656F13A1c.1998A>T (p.Val666=)
c.2160A>T (p.Val720=)
6g.6151860T>CCA448498655F13A1c.1998A>G (p.Val666=)
c.2160A>G (p.Val720=)
ClinVar dbSNP
6g.6151860T>GCA448498654F13A1c.1998A>C (p.Val666=)
c.2160A>C (p.Val720=)
6g.6151860T=CA1607955688F13A1c.1998A= (p.Val666=)
c.2160A= (p.Val720=)
6g.6151861A=CA1607955695F13A1c.1997T= (p.Val666=)
c.2159T= (p.Val720=)
6g.6151861A>CCA362657249F13A1c.1997T>G (p.Val666Gly)
c.2159T>G (p.Val720Gly)
6g.6151861A>GCA133897030F13A1c.1997T>C (p.Val666Ala)
c.2159T>C (p.Val720Ala)
dbSNP gnomAD v4
6g.6151861A>TCA362657250F13A1c.1997T>A (p.Val666Glu)
c.2159T>A (p.Val720Glu)
6g.6151862C>ACA362657253F13A1c.1996G>T (p.Val666Leu)
c.2158G>T (p.Val720Leu)
6g.6151862C>GCA362657251F13A1c.1996G>C (p.Val666Leu)
c.2158G>C (p.Val720Leu)
6g.6151862C>TCA362657252F13A1c.1996G>A (p.Val666Ile)
c.2158G>A (p.Val720Ile)
dbSNP
6g.6151863C>ACA362657254F13A1c.1995G>T (p.Trp665Cys)
c.2157G>T (p.Trp719Cys)
6g.6151863C>GCA362657255F13A1c.1995G>C (p.Trp665Cys)
c.2157G>C (p.Trp719Cys)
6g.6151863C>TCA362657256F13A1c.1995G>A (p.Trp665Ter)
c.2157G>A (p.Trp719Ter)
6g.6151864C>ACA362657257F13A1c.1994G>T (p.Trp665Leu)
c.2156G>T (p.Trp719Leu)
6g.6151864C>GCA362657258F13A1c.1994G>C (p.Trp665Ser)
c.2156G>C (p.Trp719Ser)
6g.6151864C>TCA362657259F13A1c.1994G>A (p.Trp665Ter)
c.2156G>A (p.Trp719Ter)
gnomAD v4
6g.6151865A>CCA362657260F13A1c.1993T>G (p.Trp665Gly)
c.2155T>G (p.Trp719Gly)
6g.6151865A>GCA362657261F13A1c.1993T>C (p.Trp665Arg)
c.2155T>C (p.Trp719Arg)
6g.6151865A>TCA362657262F13A1c.1993T>A (p.Trp665Arg)
c.2155T>A (p.Trp719Arg)
6g.6151866G>ACA448498657F13A1c.1992C>T (p.Val664=)
c.2154C>T (p.Val718=)
6g.6151866G>CCA448498658F13A1c.1992C>G (p.Val664=)
c.2154C>G (p.Val718=)
gnomAD v4
6g.6151866G>TCA448498659F13A1c.1992C>A (p.Val664=)
c.2154C>A (p.Val718=)
6g.6151867A>CCA362657263F13A1c.1991T>G (p.Val664Gly)
c.2153T>G (p.Val718Gly)
6g.6151867A>GCA362657264F13A1c.1991T>C (p.Val664Ala)
c.2153T>C (p.Val718Ala)
6g.6151867A>TCA362657265F13A1c.1991T>A (p.Val664Asp)
c.2153T>A (p.Val718Asp)
6g.6151868C>ACA362657267F13A1c.1990G>T (p.Val664Phe)
c.2152G>T (p.Val718Phe)
gnomAD v4
6g.6151868C>GCA362657268F13A1c.1990G>C (p.Val664Leu)
c.2152G>C (p.Val718Leu)
gnomAD v4
6g.6151868C>TCA362657266F13A1c.1990G>A (p.Val664Ile)
c.2152G>A (p.Val718Ile)
gnomAD v4
6g.6151869A>CCA362657270F13A1c.1989T>G (p.Asn663Lys)
c.2151T>G (p.Asn717Lys)
6g.6151869A>GCA448498660F13A1c.1989T>C (p.Asn663=)
c.2151T>C (p.Asn717=)
6g.6151869A>TCA362657269F13A1c.1989T>A (p.Asn663Lys)
c.2151T>A (p.Asn717Lys)
6g.6151870T>ACA362657273F13A1c.1988A>T (p.Asn663Ile)
c.2150A>T (p.Asn717Ile)
6g.6151870T>CCA362657271F13A1c.1988A>G (p.Asn663Ser)
c.2150A>G (p.Asn717Ser)
6g.6151870T>GCA362657272F13A1c.1988A>C (p.Asn663Thr)
c.2150A>C (p.Asn717Thr)
6g.6151871T>ACA362657274F13A1c.1987A>T (p.Asn663Tyr)
c.2149A>T (p.Asn717Tyr)
gnomAD v4
6g.6151871T>CCA133897034F13A1c.1987A>G (p.Asn663Asp)
c.2149A>G (p.Asn717Asp)
dbSNP gnomAD v4
6g.6151871T>GCA362657275F13A1c.1987A>C (p.Asn663His)
c.2149A>C (p.Asn717His)
6g.6151871T=CA1607955698F13A1c.1987A= (p.Asn663=)
c.2149A= (p.Asn717=)
6g.6151872T>ACA448498661F13A1c.1986A>T (p.Arg662=)
c.2148A>T (p.Arg716=)
6g.6151872T>CCA448498662F13A1c.1986A>G (p.Arg662=)
c.2148A>G (p.Arg716=)
6g.6151872T>GCA448498663F13A1c.1986A>C (p.Arg662=)
c.2148A>C (p.Arg716=)
6g.6151873C>ACA362657276F13A1c.1985G>T (p.Arg662Leu)
c.2147G>T (p.Arg716Leu)
6g.6151873C=CA1607955700F13A1c.1985G= (p.Arg662=)
c.2147G= (p.Arg716=)
6g.6151873C>GCA362657277F13A1c.1985G>C (p.Arg662Pro)
c.2147G>C (p.Arg716Pro)
6g.6151873C>TCA3624178F13A1c.1985G>A (p.Arg662Gln)
c.2147G>A (p.Arg716Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6151874G>ACA126651F13A1c.1984C>T (p.Arg662Ter)
c.2146C>T (p.Arg716Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6151874G>CCA362657278F13A1c.1984C>G (p.Arg662Gly)
c.2146C>G (p.Arg716Gly)
6g.6151874G=CA1607955709F13A1c.1984C= (p.Arg662=)
c.2146C= (p.Arg716=)
6g.6151874G>TCA448498664F13A1c.1984C>A (p.Arg662=)
c.2146C>A (p.Arg716=)
dbSNP gnomAD v3 gnomAD v4
6g.6151875C>ACA448498665F13A1c.1983G>T (p.Leu661=)
c.2145G>T (p.Leu715=)
6g.6151875C>GCA448498666F13A1c.1983G>C (p.Leu661=)
c.2145G>C (p.Leu715=)
6g.6151875C>TCA448498667F13A1c.1983G>A (p.Leu661=)
c.2145G>A (p.Leu715=)
6g.6151876A=CA1607955714F13A1c.1982T= (p.Leu661=)
c.2144T= (p.Leu715=)
6g.6151876A>CCA362657279F13A1c.1982T>G (p.Leu661Arg)
c.2144T>G (p.Leu715Arg)
6g.6151876A>GCA362657280F13A1c.1982T>C (p.Leu661Pro)
c.2144T>C (p.Leu715Pro)
dbSNP gnomAD v2 gnomAD v4
6g.6151876A>TCA362657281F13A1c.1982T>A (p.Leu661Gln)
c.2144T>A (p.Leu715Gln)
6g.6151877G>ACA448498668F13A1c.1981C>T (p.Leu661=)
c.2143C>T (p.Leu715=)
6g.6151877G>CCA3624179F13A1c.1981C>G (p.Leu661Val)
c.2143C>G (p.Leu715Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.6151877G=CA1607955717F13A1c.1981C= (p.Leu661=)
c.2143C= (p.Leu715=)
6g.6151877G>TCA362657282F13A1c.1981C>A (p.Leu661Met)
c.2143C>A (p.Leu715Met)
6g.6151879delCA2695205930F13A1c.1981del (p.Leu661CysfsTer13)
c.2143del (p.Leu715CysfsTer13)
6g.6151878G>ACA448498669F13A1c.1980C>T (p.Thr660=)
c.2142C>T (p.Thr714=)
dbSNP gnomAD v3 gnomAD v4
6g.6151878G>CCA448498671F13A1c.1980C>G (p.Thr660=)
c.2142C>G (p.Thr714=)
6g.6151878G=CA1607955720F13A1c.1980C= (p.Thr660=)
c.2142C= (p.Thr714=)
6g.6151878G>TCA448498670F13A1c.1980C>A (p.Thr660=)
c.2142C>A (p.Thr714=)
6g.6151879G>ACA362657283F13A1c.1979C>T (p.Thr660Ile)
c.2141C>T (p.Thr714Ile)
gnomAD v4
6g.6151879G>CCA362657284F13A1c.1979C>G (p.Thr660Ser)
c.2141C>G (p.Thr714Ser)
6g.6151879G=CA1607955723F13A1c.1979C= (p.Thr660=)
c.2141C= (p.Thr714=)
6g.6151879G>TCA362657285F13A1c.1979C>A (p.Thr660Asn)
c.2141C>A (p.Thr714Asn)
dbSNP gnomAD v2 gnomAD v4
6g.6151880T>ACA362657286F13A1c.1978A>T (p.Thr660Ser)
c.2140A>T (p.Thr714Ser)
6g.6151880T>CCA362657287F13A1c.1978A>G (p.Thr660Ala)
c.2140A>G (p.Thr714Ala)
6g.6151880T>GCA362657288F13A1c.1978A>C (p.Thr660Pro)
c.2140A>C (p.Thr714Pro)
6g.6151881T>ACA362657289F13A1c.1977A>T (p.Glu659Asp)
c.2139A>T (p.Glu713Asp)
6g.6151881T>CCA448498672F13A1c.1977A>G (p.Glu659=)
c.2139A>G (p.Glu713=)
6g.6151881T>GCA362657290F13A1c.1977A>C (p.Glu659Asp)
c.2139A>C (p.Glu713Asp)
dbSNP gnomAD v3 gnomAD v4
6g.6151881T=CA1607955726F13A1c.1977A= (p.Glu659=)
c.2139A= (p.Glu713=)
6g.6151882T>ACA362657291F13A1c.1976A>T (p.Glu659Val)
c.2138A>T (p.Glu713Val)
6g.6151882T>CCA362657292F13A1c.1976A>G (p.Glu659Gly)
c.2138A>G (p.Glu713Gly)
gnomAD v4
6g.6151882T>GCA362657293F13A1c.1976A>C (p.Glu659Ala)
c.2138A>C (p.Glu713Ala)
6g.6151883C>ACA362657295F13A1c.1975G>T (p.Glu659Ter)
c.2137G>T (p.Glu713Ter)
COSMIC
6g.6151883C>GCA362657296F13A1c.1975G>C (p.Glu659Gln)
c.2137G>C (p.Glu713Gln)
6g.6151883C>TCA362657294F13A1c.1975G>A (p.Glu659Lys)
c.2137G>A (p.Glu713Lys)
COSMIC
6g.6151884T>ACA362657297F13A1c.1974A>T (p.Lys658Asn)
c.2136A>T (p.Lys712Asn)
6g.6151884T>CCA448498673F13A1c.1974A>G (p.Lys658=)
c.2136A>G (p.Lys712=)
gnomAD v4
6g.6151884T>GCA362657298F13A1c.1974A>C (p.Lys658Asn)
c.2136A>C (p.Lys712Asn)
6g.6151887delCA2677190006F13A1c.1974del (p.Glu659LysfsTer15)
c.2136del (p.Glu713LysfsTer15)
gnomAD v4
6g.6151885T>ACA362657299F13A1c.1973A>T (p.Lys658Ile)
c.2135A>T (p.Lys712Ile)
6g.6151885T>CCA362657300F13A1c.1973A>G (p.Lys658Arg)
c.2135A>G (p.Lys712Arg)
6g.6151885T>GCA362657301F13A1c.1973A>C (p.Lys658Thr)
c.2135A>C (p.Lys712Thr)
6g.6151886T>ACA362657302F13A1c.1972A>T (p.Lys658Ter)
c.2134A>T (p.Lys712Ter)
6g.6151886T>CCA362657303F13A1c.1972A>G (p.Lys658Glu)
c.2134A>G (p.Lys712Glu)
6g.6151886T>GCA362657304F13A1c.1972A>C (p.Lys658Gln)
c.2134A>C (p.Lys712Gln)
6g.6151887T>ACA362657305F13A1c.1971A>T (p.Leu657Phe)
c.2133A>T (p.Leu711Phe)
6g.6151887T>CCA448498674F13A1c.1971A>G (p.Leu657=)
c.2133A>G (p.Leu711=)
6g.6151887T>GCA362657306F13A1c.1971A>C (p.Leu657Phe)
c.2133A>C (p.Leu711Phe)
COSMIC
6g.6151888A>CCA362657307F13A1c.1970T>G (p.Leu657Ter)
c.2132T>G (p.Leu711Ter)
6g.6151888A>GCA362657308F13A1c.1970T>C (p.Leu657Ser)
c.2132T>C (p.Leu711Ser)
6g.6151888A>TCA362657309F13A1c.1970T>A (p.Leu657Ter)
c.2132T>A (p.Leu711Ter)
6g.6151889A>CCA362657311F13A1c.1969T>G (p.Leu657Val)
c.2131T>G (p.Leu711Val)
6g.6151889A>GCA448498675F13A1c.1969T>C (p.Leu657=)
c.2131T>C (p.Leu711=)
6g.6151889A>TCA362657310F13A1c.1969T>A (p.Leu657Ile)
c.2131T>A (p.Leu711Ile)
6g.6151890A>CCA448498676F13A1c.1968T>G (p.Pro656=)
c.2130T>G (p.Pro710=)
6g.6151890A>GCA448498677F13A1c.1968T>C (p.Pro656=)
c.2130T>C (p.Pro710=)
6g.6151890A>TCA448498678F13A1c.1968T>A (p.Pro656=)
c.2130T>A (p.Pro710=)
6g.6151891G>ACA362657312F13A1c.1967C>T (p.Pro656Leu)
c.2129C>T (p.Pro710Leu)
6g.6151891G>CCA362657313F13A1c.1967C>G (p.Pro656Arg)
c.2129C>G (p.Pro710Arg)
6g.6151891G=CA1607955729F13A1c.1967C= (p.Pro656=)
c.2129C= (p.Pro710=)
6g.6151891G>TCA362657314F13A1c.1967C>A (p.Pro656His)
c.2129C>A (p.Pro710His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6151892G>ACA3624180F13A1c.1966C>T (p.Pro656Ser)
c.2128C>T (p.Pro710Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6151892G>CCA362657315F13A1c.1966C>G (p.Pro656Ala)
c.2128C>G (p.Pro710Ala)
6g.6151892G=CA1607955732F13A1c.1966C= (p.Pro656=)
c.2128C= (p.Pro710=)
6g.6151892G>TCA362657316F13A1c.1966C>A (p.Pro656Thr)
c.2128C>A (p.Pro710Thr)
6g.6151893A>CCA362657317F13A1c.1965T>G (p.Asn655Lys)
c.2127T>G (p.Asn709Lys)
6g.6151893A>GCA448498679F13A1c.1965T>C (p.Asn655=)
c.2127T>C (p.Asn709=)
6g.6151893A>TCA362657318F13A1c.1965T>A (p.Asn655Lys)
c.2127T>A (p.Asn709Lys)
6g.6151894T>ACA362657319F13A1c.1964A>T (p.Asn655Ile)
c.2126A>T (p.Asn709Ile)
6g.6151894T>CCA362657320F13A1c.1964A>G (p.Asn655Ser)
c.2126A>G (p.Asn709Ser)
dbSNP gnomAD v3 gnomAD v4
6g.6151894T>GCA362657321F13A1c.1964A>C (p.Asn655Thr)
c.2126A>C (p.Asn709Thr)
6g.6151894T=CA1607955734F13A1c.1964A= (p.Asn655=)
c.2126A= (p.Asn709=)
6g.6151895T>ACA362657322F13A1c.1963A>T (p.Asn655Tyr)
c.2125A>T (p.Asn709Tyr)
6g.6151895T>CCA362657323F13A1c.1963A>G (p.Asn655Asp)
c.2125A>G (p.Asn709Asp)
6g.6151895T>GCA362657324F13A1c.1963A>C (p.Asn655His)
c.2125A>C (p.Asn709His)
gnomAD v4
6g.6151895T=CA1607955738F13A1c.1963A= (p.Asn655=)
c.2125A= (p.Asn709=)
6g.6151895_6151896insACA826662763F13A1c.1962_1963insT (p.Asn655Ter)
c.2124_2125insT (p.Asn709Ter)
dbSNP gnomAD v3 gnomAD v4
6g.6151896G>ACA448498680F13A1c.1962C>T (p.Thr654=)
c.2124C>T (p.Thr708=)
gnomAD v4
6g.6151896G>CCA448498681F13A1c.1962C>G (p.Thr654=)
c.2124C>G (p.Thr708=)
6g.6151896G>TCA448498682F13A1c.1962C>A (p.Thr654=)
c.2124C>A (p.Thr708=)
6g.6151897G>ACA362657327F13A1c.1961C>T (p.Thr654Ile)
c.2123C>T (p.Thr708Ile)
6g.6151897G>CCA362657326F13A1c.1961C>G (p.Thr654Ser)
c.2123C>G (p.Thr708Ser)
6g.6151897G>TCA362657325F13A1c.1961C>A (p.Thr654Asn)
c.2123C>A (p.Thr708Asn)
6g.6151898T>ACA362657329F13A1c.1960A>T (p.Thr654Ser)
c.2122A>T (p.Thr708Ser)
ClinVar gnomAD v4
6g.6151898T>CCA362657328F13A1c.1960A>G (p.Thr654Ala)
c.2122A>G (p.Thr708Ala)
6g.6151898T>GCA362657330F13A1c.1960A>C (p.Thr654Pro)
c.2122A>C (p.Thr708Pro)
6g.6151899A=CA1607955742F13A1c.1959T= (p.Phe653=)
c.2121T= (p.Phe707=)
6g.6151899A>CCA362657331F13A1c.1959T>G (p.Phe653Leu)
c.2121T>G (p.Phe707Leu)
6g.6151899A>GCA448498683F13A1c.1959T>C (p.Phe653=)
c.2121T>C (p.Phe707=)
dbSNP
6g.6151899A>TCA362657332F13A1c.1959T>A (p.Phe653Leu)
c.2121T>A (p.Phe707Leu)
6g.6151900A>CCA362657333F13A1c.1958T>G (p.Phe653Cys)
c.2120T>G (p.Phe707Cys)
6g.6151900A>GCA362657334F13A1c.1958T>C (p.Phe653Ser)
c.2120T>C (p.Phe707Ser)
6g.6151900A>TCA362657335F13A1c.1958T>A (p.Phe653Tyr)
c.2120T>A (p.Phe707Tyr)
6g.6151901A>CCA362657336F13A1c.1957T>G (p.Phe653Val)
c.2119T>G (p.Phe707Val)
6g.6151901A>GCA362657337F13A1c.1957T>C (p.Phe653Leu)
c.2119T>C (p.Phe707Leu)
6g.6151901A>TCA362657338F13A1c.1957T>A (p.Phe653Ile)
c.2119T>A (p.Phe707Ile)
6g.6151902C>ACA362657339F13A1c.1956G>T (p.Glu652Asp)
c.2118G>T (p.Glu706Asp)
6g.6151902C>GCA362657340F13A1c.1956G>C (p.Glu652Asp)
c.2118G>C (p.Glu706Asp)
6g.6151902C>TCA448498684F13A1c.1956G>A (p.Glu652=)
c.2118G>A (p.Glu706=)
gnomAD v4
6g.6151903T>ACA362657341F13A1c.1955A>T (p.Glu652Val)
c.2117A>T (p.Glu706Val)
dbSNP gnomAD v2
6g.6151903T>CCA362657342F13A1c.1955A>G (p.Glu652Gly)
c.2117A>G (p.Glu706Gly)
6g.6151903T>GCA362657343F13A1c.1955A>C (p.Glu652Ala)
c.2117A>C (p.Glu706Ala)
6g.6151903T=CA1607955744F13A1c.1955A= (p.Glu652=)
c.2117A= (p.Glu706=)
6g.6151904C>ACA362657344F13A1c.1954G>T (p.Glu652Ter)
c.2116G>T (p.Glu706Ter)
dbSNP
6g.6151904C=CA1607955750F13A1c.1954G= (p.Glu652=)
c.2116G= (p.Glu706=)
6g.6151904C>GCA3624181F13A1c.1954G>C (p.Glu652Gln)
c.2116G>C (p.Glu706Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151904C>TCA362657345F13A1c.1954G>A (p.Glu652Lys)
c.2116G>A (p.Glu706Lys)
6g.6151905A=CA1607955755F13A1c.1953T= (p.Val651=)
c.2115T= (p.Val705=)
6g.6151905A>CCA448498687F13A1c.1953T>G (p.Val651=)
c.2115T>G (p.Val705=)
6g.6151905A>GCA448498685F13A1c.1953T>C (p.Val651=)
c.2115T>C (p.Val705=)
6g.6151905A>TCA448498686F13A1c.1953T>A (p.Val651=)
c.2115T>A (p.Val705=)
dbSNP gnomAD v2 gnomAD v4
6g.6151906A>CCA362657346F13A1c.1952T>G (p.Val651Gly)
c.2114T>G (p.Val705Gly)
6g.6151906A>GCA362657347F13A1c.1952T>C (p.Val651Ala)
c.2114T>C (p.Val705Ala)
gnomAD v4
6g.6151906A>TCA362657348F13A1c.1952T>A (p.Val651Asp)
c.2114T>A (p.Val705Asp)
6g.6151907C>ACA362657349F13A1c.1951G>T (p.Val651Phe)
c.2113G>T (p.Val705Phe)
6g.6151907C=CA1607955760F13A1c.1951G= (p.Val651=)
c.2113G= (p.Val705=)
6g.6151907C>GCA362657350F13A1c.1951G>C (p.Val651Leu)
c.2113G>C (p.Val705Leu)
6g.6151907C>TCA3624182F13A1c.1951G>A (p.Val651Ile)
c.2113G>A (p.Val705Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6151907_6151908delinsCTCA1607955763F13A1c.1950_1951delinsAG (p.Thr650=)
c.2112_2113delinsAG (p.Thr704=)

Number of alleles fetched