Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272779G>ACA7308556CCDC88Cc.5933C>T (p.Pro1978Leu)
c.1367C>T (p.Pro456Leu)
c.2161C>T
c.5825C>T (p.Pro1942Leu)
c.3014C>T (p.Pro1005Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272779G>CCA390608325CCDC88Cc.5933C>G (p.Pro1978Arg)
c.1367C>G (p.Pro456Arg)
c.2161C>G
c.5825C>G (p.Pro1942Arg)
c.3014C>G (p.Pro1005Arg)
14g.91272779G=CA2154900399CCDC88Cc.5933C= (p.Pro1978=)
c.1367C= (p.Pro456=)
c.2161C=
c.5825C= (p.Pro1942=)
c.3014C= (p.Pro1005=)
14g.91272779G>TCA390608328CCDC88Cc.5933C>A (p.Pro1978Gln)
c.1367C>A (p.Pro456Gln)
c.2161C>A
c.5825C>A (p.Pro1942Gln)
c.3014C>A (p.Pro1005Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91272780dupCA265517326CCDC88Cc.5933dup (p.Ala1979GlyfsTer?)
c.1367dup (p.Ala457GlyfsTer?)
c.2161dup
c.5825dup (p.Ala1943GlyfsTer?)
c.3014dup (p.Ala1006GlyfsTer?)
 dbSNP
14g.91272780G>ACA390608331CCDC88Cc.5932C>T (p.Pro1978Ser)
c.1366C>T (p.Pro456Ser)
c.2160C>T
c.5824C>T (p.Pro1942Ser)
c.3013C>T (p.Pro1005Ser)
14g.91272780G>CCA390608333CCDC88Cc.5932C>G (p.Pro1978Ala)
c.1366C>G (p.Pro456Ala)
c.2160C>G
c.5824C>G (p.Pro1942Ala)
c.3013C>G (p.Pro1005Ala)
14g.91272780G>TCA390608336CCDC88Cc.5932C>A (p.Pro1978Thr)
c.1366C>A (p.Pro456Thr)
c.2160C>A
c.5824C>A (p.Pro1942Thr)
c.3013C>A (p.Pro1005Thr)
 gnomAD v4
14g.91272781A=CA2154900406CCDC88Cc.5931T= (p.Leu1977=)
c.1365T= (p.Leu455=)
c.2159T=
c.5823T= (p.Leu1941=)
c.3012T= (p.Leu1004=)
14g.91272781A>CCA487828615CCDC88Cc.5931T>G (p.Leu1977=)
c.1365T>G (p.Leu455=)
c.2159T>G
c.5823T>G (p.Leu1941=)
c.3012T>G (p.Leu1004=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272781A>GCA487828618CCDC88Cc.5931T>C (p.Leu1977=)
c.1365T>C (p.Leu455=)
c.2159T>C
c.5823T>C (p.Leu1941=)
c.3012T>C (p.Leu1004=)
 dbSNP
14g.91272781A>TCA487828616CCDC88Cc.5931T>A (p.Leu1977=)
c.1365T>A (p.Leu455=)
c.2159T>A
c.5823T>A (p.Leu1941=)
c.3012T>A (p.Leu1004=)
14g.91272782A>CCA390608344CCDC88Cc.5930T>G (p.Leu1977Arg)
c.1364T>G (p.Leu455Arg)
c.2158T>G
c.5822T>G (p.Leu1941Arg)
c.3011T>G (p.Leu1004Arg)
14g.91272782A>GCA390608341CCDC88Cc.5930T>C (p.Leu1977Pro)
c.1364T>C (p.Leu455Pro)
c.2158T>C
c.5822T>C (p.Leu1941Pro)
c.3011T>C (p.Leu1004Pro)
14g.91272782A>TCA390608339CCDC88Cc.5930T>A (p.Leu1977His)
c.1364T>A (p.Leu455His)
c.2158T>A
c.5822T>A (p.Leu1941His)
c.3011T>A (p.Leu1004His)
14g.91272783G>ACA390608350CCDC88Cc.5929C>T (p.Leu1977Phe)
c.1363C>T (p.Leu455Phe)
c.2157C>T
c.5821C>T (p.Leu1941Phe)
c.3010C>T (p.Leu1004Phe)
14g.91272783G>CCA390608352CCDC88Cc.5929C>G (p.Leu1977Val)
c.1363C>G (p.Leu455Val)
c.2157C>G
c.5821C>G (p.Leu1941Val)
c.3010C>G (p.Leu1004Val)
14g.91272783G>TCA390608357CCDC88Cc.5929C>A (p.Leu1977Ile)
c.1363C>A (p.Leu455Ile)
c.2157C>A
c.5821C>A (p.Leu1941Ile)
c.3010C>A (p.Leu1004Ile)
 gnomAD v4
14g.91272783_91272784delinsGCCA2154900414CCDC88Cc.5928_5929delinsGC (p.Gly1976=)
c.1362_1363delinsGC (p.Gly454=)
c.2156_2157delinsGC
c.5820_5821delinsGC (p.Gly1940=)
c.3009_3010delinsGC (p.Gly1003=)
14g.91272784C>ACA487828624CCDC88Cc.5928G>T (p.Gly1976=)
c.1362G>T (p.Gly454=)
c.2156G>T
c.5820G>T (p.Gly1940=)
c.3009G>T (p.Gly1003=)
 gnomAD v4
14g.91272784C=CA2154900422CCDC88Cc.5928G= (p.Gly1976=)
c.1362G= (p.Gly454=)
c.2156G=
c.5820G= (p.Gly1940=)
c.3009G= (p.Gly1003=)
14g.91272784C>GCA487828625CCDC88Cc.5928G>C (p.Gly1976=)
c.1362G>C (p.Gly454=)
c.2156G>C
c.5820G>C (p.Gly1940=)
c.3009G>C (p.Gly1003=)
14g.91272784C>TCA265517332CCDC88Cc.5928G>A (p.Gly1976=)
c.1362G>A (p.Gly454=)
c.2156G>A
c.5820G>A (p.Gly1940=)
c.3009G>A (p.Gly1003=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272787dupCA2841354263CCDC88Cc.5928dup (p.Leu1977AlafsTer?)
c.1362dup (p.Leu455AlafsTer?)
c.2156dup
c.5820dup (p.Leu1941AlafsTer?)
c.3009dup (p.Leu1004AlafsTer?)
14g.91272787delCA616112270CCDC88Cc.5928del (p.Leu1977PhefsTer?)
c.1362del (p.Leu455PhefsTer?)
c.2156del
c.5820del (p.Leu1941PhefsTer?)
c.3009del (p.Leu1004PhefsTer?)
 dbSNP gnomAD v2
14g.91272785C>ACA390608361CCDC88Cc.5927G>T (p.Gly1976Val)
c.1361G>T (p.Gly454Val)
c.2155G>T
c.5819G>T (p.Gly1940Val)
c.3008G>T (p.Gly1003Val)
 gnomAD v4
14g.91272785C=CA2154900426CCDC88Cc.5927G= (p.Gly1976=)
c.1361G= (p.Gly454=)
c.2155G=
c.5819G= (p.Gly1940=)
c.3008G= (p.Gly1003=)
14g.91272785C>GCA7308557CCDC88Cc.5927G>C (p.Gly1976Ala)
c.1361G>C (p.Gly454Ala)
c.2155G>C
c.5819G>C (p.Gly1940Ala)
c.3008G>C (p.Gly1003Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272785C>TCA390608364CCDC88Cc.5927G>A (p.Gly1976Glu)
c.1361G>A (p.Gly454Glu)
c.2155G>A
c.5819G>A (p.Gly1940Glu)
c.3008G>A (p.Gly1003Glu)
14g.91272786C>ACA390608367CCDC88Cc.5926G>T (p.Gly1976Trp)
c.1360G>T (p.Gly454Trp)
c.2154G>T
c.5818G>T (p.Gly1940Trp)
c.3007G>T (p.Gly1003Trp)
14g.91272786C>GCA390608370CCDC88Cc.5926G>C (p.Gly1976Arg)
c.1360G>C (p.Gly454Arg)
c.2154G>C
c.5818G>C (p.Gly1940Arg)
c.3007G>C (p.Gly1003Arg)
14g.91272786C>TCA390608372CCDC88Cc.5926G>A (p.Gly1976Arg)
c.1360G>A (p.Gly454Arg)
c.2154G>A
c.5818G>A (p.Gly1940Arg)
c.3007G>A (p.Gly1003Arg)
 COSMIC COSMIC COSMIC
14g.91272787C>ACA390608375CCDC88Cc.5925G>T (p.Glu1975Asp)
c.1359G>T (p.Glu453Asp)
c.2153G>T
c.5817G>T (p.Glu1939Asp)
c.3006G>T (p.Glu1002Asp)
 gnomAD v4
14g.91272787C=CA2154900432CCDC88Cc.5925G= (p.Glu1975=)
c.1359G= (p.Glu453=)
c.2153G=
c.5817G= (p.Glu1939=)
c.3006G= (p.Glu1002=)
14g.91272787C>GCA390608376CCDC88Cc.5925G>C (p.Glu1975Asp)
c.1359G>C (p.Glu453Asp)
c.2153G>C
c.5817G>C (p.Glu1939Asp)
c.3006G>C (p.Glu1002Asp)
 gnomAD v4
14g.91272787C>TCA487828631CCDC88Cc.5925G>A (p.Glu1975=)
c.1359G>A (p.Glu453=)
c.2153G>A
c.5817G>A (p.Glu1939=)
c.3006G>A (p.Glu1002=)
 ClinVar dbSNP
14g.91272788_91272789delCA2580088911CCDC88Cc.5924_5925del (p.Glu1975GlyfsTer?)
c.1358_1359del (p.Glu453GlyfsTer?)
c.2152_2153del
c.5816_5817del (p.Glu1939GlyfsTer?)
c.3005_3006del (p.Glu1002GlyfsTer?)
 ClinVar
14g.91272788T>ACA390608384CCDC88Cc.5924A>T (p.Glu1975Val)
c.1358A>T (p.Glu453Val)
c.2152A>T
c.5816A>T (p.Glu1939Val)
c.3005A>T (p.Glu1002Val)
14g.91272788T>CCA390608381CCDC88Cc.5924A>G (p.Glu1975Gly)
c.1358A>G (p.Glu453Gly)
c.2152A>G
c.5816A>G (p.Glu1939Gly)
c.3005A>G (p.Glu1002Gly)
14g.91272788T>GCA390608379CCDC88Cc.5924A>C (p.Glu1975Ala)
c.1358A>C (p.Glu453Ala)
c.2152A>C
c.5816A>C (p.Glu1939Ala)
c.3005A>C (p.Glu1002Ala)
 gnomAD v4
14g.91272789C>ACA390608387CCDC88Cc.5923G>T (p.Glu1975Ter)
c.1357G>T (p.Glu453Ter)
c.2151G>T
c.5815G>T (p.Glu1939Ter)
c.3004G>T (p.Glu1002Ter)
14g.91272789C=CA2154900437CCDC88Cc.5923G= (p.Glu1975=)
c.1357G= (p.Glu453=)
c.2151G=
c.5815G= (p.Glu1939=)
c.3004G= (p.Glu1002=)
14g.91272789C>GCA390608389CCDC88Cc.5923G>C (p.Glu1975Gln)
c.1357G>C (p.Glu453Gln)
c.2151G>C
c.5815G>C (p.Glu1939Gln)
c.3004G>C (p.Glu1002Gln)
14g.91272789C>TCA7308558CCDC88Cc.5923G>A (p.Glu1975Lys)
c.1357G>A (p.Glu453Lys)
c.2151G>A
c.5815G>A (p.Glu1939Lys)
c.3004G>A (p.Glu1002Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272790A=CA2154900442CCDC88Cc.5922T= (p.Ser1974=)
c.1356T= (p.Ser452=)
c.2150T=
c.5814T= (p.Ser1938=)
c.3003T= (p.Ser1001=)
14g.91272790A>CCA7308559CCDC88Cc.5922T>G (p.Ser1974Arg)
c.1356T>G (p.Ser452Arg)
c.2150T>G
c.5814T>G (p.Ser1938Arg)
c.3003T>G (p.Ser1001Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272790A>GCA487828634CCDC88Cc.5922T>C (p.Ser1974=)
c.1356T>C (p.Ser452=)
c.2150T>C
c.5814T>C (p.Ser1938=)
c.3003T>C (p.Ser1001=)
 gnomAD v4
14g.91272790A>TCA390608393CCDC88Cc.5922T>A (p.Ser1974Arg)
c.1356T>A (p.Ser452Arg)
c.2150T>A
c.5814T>A (p.Ser1938Arg)
c.3003T>A (p.Ser1001Arg)
14g.91272791C>ACA390608396CCDC88Cc.5921G>T (p.Ser1974Ile)
c.1355G>T (p.Ser452Ile)
c.2149G>T
c.5813G>T (p.Ser1938Ile)
c.3002G>T (p.Ser1001Ile)
 gnomAD v4
14g.91272791C>GCA390608399CCDC88Cc.5921G>C (p.Ser1974Thr)
c.1355G>C (p.Ser452Thr)
c.2149G>C
c.5813G>C (p.Ser1938Thr)
c.3002G>C (p.Ser1001Thr)
14g.91272791C>TCA390608401CCDC88Cc.5921G>A (p.Ser1974Asn)
c.1355G>A (p.Ser452Asn)
c.2149G>A
c.5813G>A (p.Ser1938Asn)
c.3002G>A (p.Ser1001Asn)
14g.91272792T>ACA390608404CCDC88Cc.5920A>T (p.Ser1974Cys)
c.1354A>T (p.Ser452Cys)
c.2148A>T
c.5812A>T (p.Ser1938Cys)
c.3001A>T (p.Ser1001Cys)
14g.91272792T>CCA390608406CCDC88Cc.5920A>G (p.Ser1974Gly)
c.1354A>G (p.Ser452Gly)
c.2148A>G
c.5812A>G (p.Ser1938Gly)
c.3001A>G (p.Ser1001Gly)
 gnomAD v4
14g.91272792T>GCA390608407CCDC88Cc.5920A>C (p.Ser1974Arg)
c.1354A>C (p.Ser452Arg)
c.2148A>C
c.5812A>C (p.Ser1938Arg)
c.3001A>C (p.Ser1001Arg)
14g.91272793G>ACA487828637CCDC88Cc.5919C>T (p.Cys1973=)
c.1353C>T (p.Cys451=)
c.2147C>T
c.5811C>T (p.Cys1937=)
c.3000C>T (p.Cys1000=)
 gnomAD v4
14g.91272793G>CCA390608410CCDC88Cc.5919C>G (p.Cys1973Trp)
c.1353C>G (p.Cys451Trp)
c.2147C>G
c.5811C>G (p.Cys1937Trp)
c.3000C>G (p.Cys1000Trp)
14g.91272793G>TCA390608412CCDC88Cc.5919C>A (p.Cys1973Ter)
c.1353C>A (p.Cys451Ter)
c.2147C>A
c.5811C>A (p.Cys1937Ter)
c.3000C>A (p.Cys1000Ter)
14g.91272794C>ACA390608418CCDC88Cc.5918G>T (p.Cys1973Phe)
c.1352G>T (p.Cys451Phe)
c.2146G>T
c.5810G>T (p.Cys1937Phe)
c.2999G>T (p.Cys1000Phe)
 gnomAD v4
14g.91272794C>GCA390608415CCDC88Cc.5918G>C (p.Cys1973Ser)
c.1352G>C (p.Cys451Ser)
c.2146G>C
c.5810G>C (p.Cys1937Ser)
c.2999G>C (p.Cys1000Ser)
14g.91272794C>TCA390608416CCDC88Cc.5918G>A (p.Cys1973Tyr)
c.1352G>A (p.Cys451Tyr)
c.2146G>A
c.5810G>A (p.Cys1937Tyr)
c.2999G>A (p.Cys1000Tyr)
 gnomAD v4
14g.91272795A>CCA390608420CCDC88Cc.5917T>G (p.Cys1973Gly)
c.1351T>G (p.Cys451Gly)
c.2145T>G
c.5809T>G (p.Cys1937Gly)
c.2998T>G (p.Cys1000Gly)
14g.91272795A>GCA390608422CCDC88Cc.5917T>C (p.Cys1973Arg)
c.1351T>C (p.Cys451Arg)
c.2145T>C
c.5809T>C (p.Cys1937Arg)
c.2998T>C (p.Cys1000Arg)
14g.91272795A>TCA390608424CCDC88Cc.5917T>A (p.Cys1973Ser)
c.1351T>A (p.Cys451Ser)
c.2145T>A
c.5809T>A (p.Cys1937Ser)
c.2998T>A (p.Cys1000Ser)
14g.91272796delCA2626127301CCDC88Cc.5916del (p.Cys1973AlafsTer?)
c.1350del (p.Cys451AlafsTer?)
c.2144del
c.5808del (p.Cys1937AlafsTer?)
c.2997del (p.Cys1000AlafsTer?)
 gnomAD v4
14g.91272796G>ACA487828641CCDC88Cc.5916C>T (p.Gly1972=)
c.1350C>T (p.Gly450=)
c.2144C>T
c.5808C>T (p.Gly1936=)
c.2997C>T (p.Gly999=)
 gnomAD v4
14g.91272796G>CCA487828642CCDC88Cc.5916C>G (p.Gly1972=)
c.1350C>G (p.Gly450=)
c.2144C>G
c.5808C>G (p.Gly1936=)
c.2997C>G (p.Gly999=)
14g.91272796G=CA2154900449CCDC88Cc.5916C= (p.Gly1972=)
c.1350C= (p.Gly450=)
c.2144C=
c.5808C= (p.Gly1936=)
c.2997C= (p.Gly999=)
14g.91272796G>TCA7308560CCDC88Cc.5916C>A (p.Gly1972=)
c.1350C>A (p.Gly450=)
c.2144C>A
c.5808C>A (p.Gly1936=)
c.2997C>A (p.Gly999=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272797C>ACA390608429CCDC88Cc.5915G>T (p.Gly1972Val)
c.1349G>T (p.Gly450Val)
c.2143G>T
c.5807G>T (p.Gly1936Val)
c.2996G>T (p.Gly999Val)
 gnomAD v4
14g.91272797C>GCA390608432CCDC88Cc.5915G>C (p.Gly1972Ala)
c.1349G>C (p.Gly450Ala)
c.2143G>C
c.5807G>C (p.Gly1936Ala)
c.2996G>C (p.Gly999Ala)
14g.91272797C>TCA390608434CCDC88Cc.5915G>A (p.Gly1972Asp)
c.1349G>A (p.Gly450Asp)
c.2143G>A
c.5807G>A (p.Gly1936Asp)
c.2996G>A (p.Gly999Asp)
 gnomAD v4
14g.91272798C>ACA390608438CCDC88Cc.5914G>T (p.Gly1972Cys)
c.1348G>T (p.Gly450Cys)
c.2142G>T
c.5806G>T (p.Gly1936Cys)
c.2995G>T (p.Gly999Cys)
14g.91272798C>GCA390608440CCDC88Cc.5914G>C (p.Gly1972Arg)
c.1348G>C (p.Gly450Arg)
c.2142G>C
c.5806G>C (p.Gly1936Arg)
c.2995G>C (p.Gly999Arg)
14g.91272798C>TCA390608441CCDC88Cc.5914G>A (p.Gly1972Ser)
c.1348G>A (p.Gly450Ser)
c.2142G>A
c.5806G>A (p.Gly1936Ser)
c.2995G>A (p.Gly999Ser)
14g.91272799C>ACA390608445CCDC88Cc.5913G>T (p.Gln1971His)
c.1347G>T (p.Gln449His)
c.2141G>T
c.5805G>T (p.Gln1935His)
c.2994G>T (p.Gln998His)
14g.91272799C=CA2154900452CCDC88Cc.5913G= (p.Gln1971=)
c.1347G= (p.Gln449=)
c.2141G=
c.5805G= (p.Gln1935=)
c.2994G= (p.Gln998=)
14g.91272799C>GCA390608446CCDC88Cc.5913G>C (p.Gln1971His)
c.1347G>C (p.Gln449His)
c.2141G>C
c.5805G>C (p.Gln1935His)
c.2994G>C (p.Gln998His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272799C>TCA487828643CCDC88Cc.5913G>A (p.Gln1971=)
c.1347G>A (p.Gln449=)
c.2141G>A
c.5805G>A (p.Gln1935=)
c.2994G>A (p.Gln998=)
14g.91272800T>ACA390608453CCDC88Cc.5912A>T (p.Gln1971Leu)
c.1346A>T (p.Gln449Leu)
c.2140A>T
c.5804A>T (p.Gln1935Leu)
c.2993A>T (p.Gln998Leu)
14g.91272800T>CCA390608452CCDC88Cc.5912A>G (p.Gln1971Arg)
c.1346A>G (p.Gln449Arg)
c.2140A>G
c.5804A>G (p.Gln1935Arg)
c.2993A>G (p.Gln998Arg)
 gnomAD v4
14g.91272800T>GCA390608449CCDC88Cc.5912A>C (p.Gln1971Pro)
c.1346A>C (p.Gln449Pro)
c.2140A>C
c.5804A>C (p.Gln1935Pro)
c.2993A>C (p.Gln998Pro)
14g.91272801G>ACA390608459CCDC88Cc.5911C>T (p.Gln1971Ter)
c.1345C>T (p.Gln449Ter)
c.2139C>T
c.5803C>T (p.Gln1935Ter)
c.2992C>T (p.Gln998Ter)
 dbSNP gnomAD v4
14g.91272801G>CCA390608457CCDC88Cc.5911C>G (p.Gln1971Glu)
c.1345C>G (p.Gln449Glu)
c.2139C>G
c.5803C>G (p.Gln1935Glu)
c.2992C>G (p.Gln998Glu)
14g.91272801G=CA2154900457CCDC88Cc.5911C= (p.Gln1971=)
c.1345C= (p.Gln449=)
c.2139C=
c.5803C= (p.Gln1935=)
c.2992C= (p.Gln998=)
14g.91272801G>TCA390608461CCDC88Cc.5911C>A (p.Gln1971Lys)
c.1345C>A (p.Gln449Lys)
c.2139C>A
c.5803C>A (p.Gln1935Lys)
c.2992C>A (p.Gln998Lys)
 gnomAD v4
14g.91272802C>ACA487828647CCDC88Cc.5910G>T (p.Gly1970=)
c.1344G>T (p.Gly448=)
c.2138G>T
c.5802G>T (p.Gly1934=)
c.2991G>T (p.Gly997=)
 gnomAD v4
14g.91272802C>GCA487828649CCDC88Cc.5910G>C (p.Gly1970=)
c.1344G>C (p.Gly448=)
c.2138G>C
c.5802G>C (p.Gly1934=)
c.2991G>C (p.Gly997=)
14g.91272802C>TCA487828648CCDC88Cc.5910G>A (p.Gly1970=)
c.1344G>A (p.Gly448=)
c.2138G>A
c.5802G>A (p.Gly1934=)
c.2991G>A (p.Gly997=)
 gnomAD v4
14g.91272805delCA2626127308CCDC88Cc.5910del (p.Gln1971ArgfsTer?)
c.1344del (p.Gln449ArgfsTer?)
c.2138del
c.5802del (p.Gln1935ArgfsTer?)
c.2991del (p.Gln998ArgfsTer?)
 gnomAD v4
14g.91272803C>ACA390608465CCDC88Cc.5909G>T (p.Gly1970Val)
c.1343G>T (p.Gly448Val)
c.2137G>T
c.5801G>T (p.Gly1934Val)
c.2990G>T (p.Gly997Val)
 gnomAD v4
14g.91272803C>GCA390608467CCDC88Cc.5909G>C (p.Gly1970Ala)
c.1343G>C (p.Gly448Ala)
c.2137G>C
c.5801G>C (p.Gly1934Ala)
c.2990G>C (p.Gly997Ala)
14g.91272803C>TCA390608469CCDC88Cc.5909G>A (p.Gly1970Glu)
c.1343G>A (p.Gly448Glu)
c.2137G>A
c.5801G>A (p.Gly1934Glu)
c.2990G>A (p.Gly997Glu)
 gnomAD v4
14g.91272804C>ACA390608473CCDC88Cc.5908G>T (p.Gly1970Trp)
c.1342G>T (p.Gly448Trp)
c.2136G>T
c.5800G>T (p.Gly1934Trp)
c.2989G>T (p.Gly997Trp)
14g.91272804C>GCA390608475CCDC88Cc.5908G>C (p.Gly1970Arg)
c.1342G>C (p.Gly448Arg)
c.2136G>C
c.5800G>C (p.Gly1934Arg)
c.2989G>C (p.Gly997Arg)
14g.91272804C>TCA390608478CCDC88Cc.5908G>A (p.Gly1970Arg)
c.1342G>A (p.Gly448Arg)
c.2136G>A
c.5800G>A (p.Gly1934Arg)
c.2989G>A (p.Gly997Arg)
14g.91272805C>ACA487828652CCDC88Cc.5907G>T (p.Pro1969=)
c.1341G>T (p.Pro447=)
c.2135G>T
c.5799G>T (p.Pro1933=)
c.2988G>T (p.Pro996=)
 gnomAD v4
14g.91272805C=CA2154900460CCDC88Cc.5907G= (p.Pro1969=)
c.1341G= (p.Pro447=)
c.2135G=
c.5799G= (p.Pro1933=)
c.2988G= (p.Pro996=)
14g.91272805C>GCA487828653CCDC88Cc.5907G>C (p.Pro1969=)
c.1341G>C (p.Pro447=)
c.2135G>C
c.5799G>C (p.Pro1933=)
c.2988G>C (p.Pro996=)
 gnomAD v4
14g.91272805C>TCA7308561CCDC88Cc.5907G>A (p.Pro1969=)
c.1341G>A (p.Pro447=)
c.2135G>A
c.5799G>A (p.Pro1933=)
c.2988G>A (p.Pro996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272806G>ACA7308562CCDC88Cc.5906C>T (p.Pro1969Leu)
c.1340C>T (p.Pro447Leu)
c.2134C>T
c.5798C>T (p.Pro1933Leu)
c.2987C>T (p.Pro996Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272806G>CCA390608485CCDC88Cc.5906C>G (p.Pro1969Arg)
c.1340C>G (p.Pro447Arg)
c.2134C>G
c.5798C>G (p.Pro1933Arg)
c.2987C>G (p.Pro996Arg)
14g.91272806G=CA2154900467CCDC88Cc.5906C= (p.Pro1969=)
c.1340C= (p.Pro447=)
c.2134C=
c.5798C= (p.Pro1933=)
c.2987C= (p.Pro996=)
14g.91272806G>TCA390608487CCDC88Cc.5906C>A (p.Pro1969Gln)
c.1340C>A (p.Pro447Gln)
c.2134C>A
c.5798C>A (p.Pro1933Gln)
c.2987C>A (p.Pro996Gln)
 gnomAD v4
14g.91272807G>ACA7308563CCDC88Cc.5905C>T (p.Pro1969Ser)
c.1339C>T (p.Pro447Ser)
c.2133C>T
c.5797C>T (p.Pro1933Ser)
c.2986C>T (p.Pro996Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272807G>CCA390608492CCDC88Cc.5905C>G (p.Pro1969Ala)
c.1339C>G (p.Pro447Ala)
c.2133C>G
c.5797C>G (p.Pro1933Ala)
c.2986C>G (p.Pro996Ala)
14g.91272807G=CA2154900471CCDC88Cc.5905C= (p.Pro1969=)
c.1339C= (p.Pro447=)
c.2133C=
c.5797C= (p.Pro1933=)
c.2986C= (p.Pro996=)
14g.91272807G>TCA390608494CCDC88Cc.5905C>A (p.Pro1969Thr)
c.1339C>A (p.Pro447Thr)
c.2133C>A
c.5797C>A (p.Pro1933Thr)
c.2986C>A (p.Pro996Thr)
 gnomAD v4
14g.91272808G>ACA7308564CCDC88Cc.5904C>T (p.Val1968=)
c.1338C>T (p.Val446=)
c.2132C>T
c.5796C>T (p.Val1932=)
c.2985C>T (p.Val995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272808G>CCA487828654CCDC88Cc.5904C>G (p.Val1968=)
c.1338C>G (p.Val446=)
c.2132C>G
c.5796C>G (p.Val1932=)
c.2985C>G (p.Val995=)
14g.91272808G=CA2154900478CCDC88Cc.5904C= (p.Val1968=)
c.1338C= (p.Val446=)
c.2132C=
c.5796C= (p.Val1932=)
c.2985C= (p.Val995=)
14g.91272808G>TCA487828656CCDC88Cc.5904C>A (p.Val1968=)
c.1338C>A (p.Val446=)
c.2132C>A
c.5796C>A (p.Val1932=)
c.2985C>A (p.Val995=)
 gnomAD v4
14g.91272809A>CCA390608498CCDC88Cc.5903T>G (p.Val1968Gly)
c.1337T>G (p.Val446Gly)
c.2131T>G
c.5795T>G (p.Val1932Gly)
c.2984T>G (p.Val995Gly)
14g.91272809A>GCA390608501CCDC88Cc.5903T>C (p.Val1968Ala)
c.1337T>C (p.Val446Ala)
c.2131T>C
c.5795T>C (p.Val1932Ala)
c.2984T>C (p.Val995Ala)
 gnomAD v4
14g.91272809A>TCA390608504CCDC88Cc.5903T>A (p.Val1968Asp)
c.1337T>A (p.Val446Asp)
c.2131T>A
c.5795T>A (p.Val1932Asp)
c.2984T>A (p.Val995Asp)
14g.91272810C>ACA390608507CCDC88Cc.5902G>T (p.Val1968Phe)
c.1336G>T (p.Val446Phe)
c.2130G>T
c.5794G>T (p.Val1932Phe)
c.2983G>T (p.Val995Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272810C=CA2154900486CCDC88Cc.5902G= (p.Val1968=)
c.1336G= (p.Val446=)
c.2130G=
c.5794G= (p.Val1932=)
c.2983G= (p.Val995=)
14g.91272810C>GCA390608509CCDC88Cc.5902G>C (p.Val1968Leu)
c.1336G>C (p.Val446Leu)
c.2130G>C
c.5794G>C (p.Val1932Leu)
c.2983G>C (p.Val995Leu)
14g.91272810C>TCA390608512CCDC88Cc.5902G>A (p.Val1968Ile)
c.1336G>A (p.Val446Ile)
c.2130G>A
c.5794G>A (p.Val1932Ile)
c.2983G>A (p.Val995Ile)
14g.91272813dupCA2626127324CCDC88Cc.5902dup (p.Val1968GlyfsTer8)
c.1336dup (p.Val446GlyfsTer8)
c.2130dup
c.5794dup (p.Val1932GlyfsTer8)
c.2983dup (p.Val995GlyfsTer8)
 gnomAD v4
14g.91272813delCA2626127325CCDC88Cc.5902del (p.Val1968SerfsTer?)
c.1336del (p.Val446SerfsTer?)
c.2130del
c.5794del (p.Val1932SerfsTer?)
c.2983del (p.Val995SerfsTer?)
 gnomAD v4
14g.91272811C>ACA487828663CCDC88Cc.5901G>T (p.Gly1967=)
c.1335G>T (p.Gly445=)
c.2129G>T
c.5793G>T (p.Gly1931=)
c.2982G>T (p.Gly994=)
 dbSNP
14g.91272811C=CA2154900493CCDC88Cc.5901G= (p.Gly1967=)
c.1335G= (p.Gly445=)
c.2129G=
c.5793G= (p.Gly1931=)
c.2982G= (p.Gly994=)
14g.91272811C>GCA487828661CCDC88Cc.5901G>C (p.Gly1967=)
c.1335G>C (p.Gly445=)
c.2129G>C
c.5793G>C (p.Gly1931=)
c.2982G>C (p.Gly994=)
 dbSNP
14g.91272811C>TCA487828662CCDC88Cc.5901G>A (p.Gly1967=)
c.1335G>A (p.Gly445=)
c.2129G>A
c.5793G>A (p.Gly1931=)
c.2982G>A (p.Gly994=)
 gnomAD v4
14g.91272812C>ACA390608515CCDC88Cc.5900G>T (p.Gly1967Val)
c.1334G>T (p.Gly445Val)
c.2128G>T
c.5792G>T (p.Gly1931Val)
c.2981G>T (p.Gly994Val)
14g.91272812C>GCA390608517CCDC88Cc.5900G>C (p.Gly1967Ala)
c.1334G>C (p.Gly445Ala)
c.2128G>C
c.5792G>C (p.Gly1931Ala)
c.2981G>C (p.Gly994Ala)
14g.91272812C>TCA390608519CCDC88Cc.5900G>A (p.Gly1967Glu)
c.1334G>A (p.Gly445Glu)
c.2128G>A
c.5792G>A (p.Gly1931Glu)
c.2981G>A (p.Gly994Glu)
 gnomAD v4
14g.91272813C>ACA390608522CCDC88Cc.5899G>T (p.Gly1967Trp)
c.1333G>T (p.Gly445Trp)
c.2127G>T
c.5791G>T (p.Gly1931Trp)
c.2980G>T (p.Gly994Trp)
 dbSNP gnomAD v4
14g.91272813C=CA2154900498CCDC88Cc.5899G= (p.Gly1967=)
c.1333G= (p.Gly445=)
c.2127G=
c.5791G= (p.Gly1931=)
c.2980G= (p.Gly994=)
14g.91272813C>GCA390608524CCDC88Cc.5899G>C (p.Gly1967Arg)
c.1333G>C (p.Gly445Arg)
c.2127G>C
c.5791G>C (p.Gly1931Arg)
c.2980G>C (p.Gly994Arg)
 gnomAD v4
14g.91272813C>TCA7308565CCDC88Cc.5899G>A (p.Gly1967Arg)
c.1333G>A (p.Gly445Arg)
c.2127G>A
c.5791G>A (p.Gly1931Arg)
c.2980G>A (p.Gly994Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272814delCA2626127364CCDC88Cc.5898del (p.Asp1966GlufsTer?)
c.1332del (p.Asp444GlufsTer?)
c.2126del
c.5790del (p.Asp1930GlufsTer?)
c.2979del (p.Asp993GlufsTer?)
 gnomAD v4
14g.91272814G>ACA7308566CCDC88Cc.5898C>T (p.Asp1966=)
c.1332C>T (p.Asp444=)
c.2126C>T
c.5790C>T (p.Asp1930=)
c.2979C>T (p.Asp993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272814G>CCA390608533CCDC88Cc.5898C>G (p.Asp1966Glu)
c.1332C>G (p.Asp444Glu)
c.2126C>G
c.5790C>G (p.Asp1930Glu)
c.2979C>G (p.Asp993Glu)
14g.91272814G=CA2154900504CCDC88Cc.5898C= (p.Asp1966=)
c.1332C= (p.Asp444=)
c.2126C=
c.5790C= (p.Asp1930=)
c.2979C= (p.Asp993=)
14g.91272814G>TCA390608530CCDC88Cc.5898C>A (p.Asp1966Glu)
c.1332C>A (p.Asp444Glu)
c.2126C>A
c.5790C>A (p.Asp1930Glu)
c.2979C>A (p.Asp993Glu)
 gnomAD v4
14g.91272815T>ACA390608536CCDC88Cc.5897A>T (p.Asp1966Val)
c.1331A>T (p.Asp444Val)
c.2125A>T
c.5789A>T (p.Asp1930Val)
c.2978A>T (p.Asp993Val)
14g.91272815T>CCA390608538CCDC88Cc.5897A>G (p.Asp1966Gly)
c.1331A>G (p.Asp444Gly)
c.2125A>G
c.5789A>G (p.Asp1930Gly)
c.2978A>G (p.Asp993Gly)
14g.91272815T>GCA390608540CCDC88Cc.5897A>C (p.Asp1966Ala)
c.1331A>C (p.Asp444Ala)
c.2125A>C
c.5789A>C (p.Asp1930Ala)
c.2978A>C (p.Asp993Ala)
14g.91272816C>ACA390608544CCDC88Cc.5896G>T (p.Asp1966Tyr)
c.1330G>T (p.Asp444Tyr)
c.2124G>T
c.5788G>T (p.Asp1930Tyr)
c.2977G>T (p.Asp993Tyr)
14g.91272816C>GCA390608546CCDC88Cc.5896G>C (p.Asp1966His)
c.1330G>C (p.Asp444His)
c.2124G>C
c.5788G>C (p.Asp1930His)
c.2977G>C (p.Asp993His)
14g.91272816C>TCA390608547CCDC88Cc.5896G>A (p.Asp1966Asn)
c.1330G>A (p.Asp444Asn)
c.2124G>A
c.5788G>A (p.Asp1930Asn)
c.2977G>A (p.Asp993Asn)
 gnomAD v4
14g.91272819_91272822delCA2626127365CCDC88Cc.5893_5896del (p.Gly1965ThrfsTer?)
c.1327_1330del (p.Gly443ThrfsTer?)
c.2121_2124del
c.5785_5788del (p.Gly1929ThrfsTer?)
c.2974_2977del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272817T>ACA487828668CCDC88Cc.5895A>T (p.Gly1965=)
c.1329A>T (p.Gly443=)
c.2123A>T
c.5787A>T (p.Gly1929=)
c.2976A>T (p.Gly992=)
14g.91272817T>CCA487828671CCDC88Cc.5895A>G (p.Gly1965=)
c.1329A>G (p.Gly443=)
c.2123A>G
c.5787A>G (p.Gly1929=)
c.2976A>G (p.Gly992=)
14g.91272817T>GCA487828669CCDC88Cc.5895A>C (p.Gly1965=)
c.1329A>C (p.Gly443=)
c.2123A>C
c.5787A>C (p.Gly1929=)
c.2976A>C (p.Gly992=)
14g.91272818C>ACA390608550CCDC88Cc.5894G>T (p.Gly1965Val)
c.1328G>T (p.Gly443Val)
c.2122G>T
c.5786G>T (p.Gly1929Val)
c.2975G>T (p.Gly992Val)
14g.91272818C=CA2154900510CCDC88Cc.5894G= (p.Gly1965=)
c.1328G= (p.Gly443=)
c.2122G=
c.5786G= (p.Gly1929=)
c.2975G= (p.Gly992=)
14g.91272818C>GCA390608552CCDC88Cc.5894G>C (p.Gly1965Ala)
c.1328G>C (p.Gly443Ala)
c.2122G>C
c.5786G>C (p.Gly1929Ala)
c.2975G>C (p.Gly992Ala)
 dbSNP
14g.91272818C>TCA390608555CCDC88Cc.5894G>A (p.Gly1965Glu)
c.1328G>A (p.Gly443Glu)
c.2122G>A
c.5786G>A (p.Gly1929Glu)
c.2975G>A (p.Gly992Glu)
 ClinVar
14g.91272819C>ACA390608558CCDC88Cc.5893G>T (p.Gly1965Ter)
c.1327G>T (p.Gly443Ter)
c.2121G>T
c.5785G>T (p.Gly1929Ter)
c.2974G>T (p.Gly992Ter)
14g.91272819C=CA2154900516CCDC88Cc.5893G= (p.Gly1965=)
c.1327G= (p.Gly443=)
c.2121G=
c.5785G= (p.Gly1929=)
c.2974G= (p.Gly992=)
14g.91272819C>GCA390608560CCDC88Cc.5893G>C (p.Gly1965Arg)
c.1327G>C (p.Gly443Arg)
c.2121G>C
c.5785G>C (p.Gly1929Arg)
c.2974G>C (p.Gly992Arg)
14g.91272819C>TCA390608562CCDC88Cc.5893G>A (p.Gly1965Arg)
c.1327G>A (p.Gly443Arg)
c.2121G>A
c.5785G>A (p.Gly1929Arg)
c.2974G>A (p.Gly992Arg)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
14g.91272820C>ACA390608565CCDC88Cc.5892G>T (p.Glu1964Asp)
c.1326G>T (p.Glu442Asp)
c.2120G>T
c.5784G>T (p.Glu1928Asp)
c.2973G>T (p.Glu991Asp)
 gnomAD v4
14g.91272820C=CA2154900520CCDC88Cc.5892G= (p.Glu1964=)
c.1326G= (p.Glu442=)
c.2120G=
c.5784G= (p.Glu1928=)
c.2973G= (p.Glu991=)
14g.91272820C>GCA390608567CCDC88Cc.5892G>C (p.Glu1964Asp)
c.1326G>C (p.Glu442Asp)
c.2120G>C
c.5784G>C (p.Glu1928Asp)
c.2973G>C (p.Glu991Asp)
 dbSNP
14g.91272820C>TCA7308567CCDC88Cc.5892G>A (p.Glu1964=)
c.1326G>A (p.Glu442=)
c.2120G>A
c.5784G>A (p.Glu1928=)
c.2973G>A (p.Glu991=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272820_91272823delCA2626127366CCDC88Cc.5889_5892del (p.Gly1965ThrfsTer?)
c.1323_1326del (p.Gly443ThrfsTer?)
c.2117_2120del
c.5781_5784del (p.Gly1929ThrfsTer?)
c.2970_2973del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272821T>ACA390608570CCDC88Cc.5891A>T (p.Glu1964Val)
c.1325A>T (p.Glu442Val)
c.2119A>T
c.5783A>T (p.Glu1928Val)
c.2972A>T (p.Glu991Val)
14g.91272821T>CCA390608572CCDC88Cc.5891A>G (p.Glu1964Gly)
c.1325A>G (p.Glu442Gly)
c.2119A>G
c.5783A>G (p.Glu1928Gly)
c.2972A>G (p.Glu991Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91272821T>GCA390608575CCDC88Cc.5891A>C (p.Glu1964Ala)
c.1325A>C (p.Glu442Ala)
c.2119A>C
c.5783A>C (p.Glu1928Ala)
c.2972A>C (p.Glu991Ala)
14g.91272821T=CA2154900525CCDC88Cc.5891A= (p.Glu1964=)
c.1325A= (p.Glu442=)
c.2119A=
c.5783A= (p.Glu1928=)
c.2972A= (p.Glu991=)
14g.91272822C>ACA390608577CCDC88Cc.5890G>T (p.Glu1964Ter)
c.1324G>T (p.Glu442Ter)
c.2118G>T
c.5782G>T (p.Glu1928Ter)
c.2971G>T (p.Glu991Ter)
 gnomAD v4
14g.91272822C>GCA390608579CCDC88Cc.5890G>C (p.Glu1964Gln)
c.1324G>C (p.Glu442Gln)
c.2118G>C
c.5782G>C (p.Glu1928Gln)
c.2971G>C (p.Glu991Gln)
14g.91272822C>TCA390608582CCDC88Cc.5890G>A (p.Glu1964Lys)
c.1324G>A (p.Glu442Lys)
c.2118G>A
c.5782G>A (p.Glu1928Lys)
c.2971G>A (p.Glu991Lys)
14g.91272823T>ACA487828679CCDC88Cc.5889A>T (p.Ser1963=)
c.1323A>T (p.Ser441=)
c.2117A>T
c.5781A>T (p.Ser1927=)
c.2970A>T (p.Ser990=)
14g.91272823T>CCA487828681CCDC88Cc.5889A>G (p.Ser1963=)
c.1323A>G (p.Ser441=)
c.2117A>G
c.5781A>G (p.Ser1927=)
c.2970A>G (p.Ser990=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272823T>GCA487828680CCDC88Cc.5889A>C (p.Ser1963=)
c.1323A>C (p.Ser441=)
c.2117A>C
c.5781A>C (p.Ser1927=)
c.2970A>C (p.Ser990=)
14g.91272823T=CA2154900543CCDC88Cc.5889A= (p.Ser1963=)
c.1323A= (p.Ser441=)
c.2117A=
c.5781A= (p.Ser1927=)
c.2970A= (p.Ser990=)
14g.91272824G>ACA390608589CCDC88Cc.5888C>T (p.Ser1963Leu)
c.1322C>T (p.Ser441Leu)
c.2116C>T
c.5780C>T (p.Ser1927Leu)
c.2969C>T (p.Ser990Leu)
 dbSNP COSMIC COSMIC COSMIC
14g.91272824G>CCA390608586CCDC88Cc.5888C>G (p.Ser1963Ter)
c.1322C>G (p.Ser441Ter)
c.2116C>G
c.5780C>G (p.Ser1927Ter)
c.2969C>G (p.Ser990Ter)
14g.91272824G=CA2154900552CCDC88Cc.5888C= (p.Ser1963=)
c.1322C= (p.Ser441=)
c.2116C=
c.5780C= (p.Ser1927=)
c.2969C= (p.Ser990=)
14g.91272824G>TCA390608588CCDC88Cc.5888C>A (p.Ser1963Ter)
c.1322C>A (p.Ser441Ter)
c.2116C>A
c.5780C>A (p.Ser1927Ter)
c.2969C>A (p.Ser990Ter)
 dbSNP gnomAD v3 gnomAD v4
14g.91272825A>CCA390608592CCDC88Cc.5887T>G (p.Ser1963Ala)
c.1321T>G (p.Ser441Ala)
c.2115T>G
c.5779T>G (p.Ser1927Ala)
c.2968T>G (p.Ser990Ala)
14g.91272825A>GCA390608594CCDC88Cc.5887T>C (p.Ser1963Pro)
c.1321T>C (p.Ser441Pro)
c.2115T>C
c.5779T>C (p.Ser1927Pro)
c.2968T>C (p.Ser990Pro)
 gnomAD v4
14g.91272825A>TCA390608598CCDC88Cc.5887T>A (p.Ser1963Thr)
c.1321T>A (p.Ser441Thr)
c.2115T>A
c.5779T>A (p.Ser1927Thr)
c.2968T>A (p.Ser990Thr)
14g.91272826G>ACA487828683CCDC88Cc.5886C>T (p.Leu1962=)
c.1320C>T (p.Leu440=)
c.2114C>T
c.5778C>T (p.Leu1926=)
c.2967C>T (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272826G>CCA487828684CCDC88Cc.5886C>G (p.Leu1962=)
c.1320C>G (p.Leu440=)
c.2114C>G
c.5778C>G (p.Leu1926=)
c.2967C>G (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272826G=CA2154900559CCDC88Cc.5886C= (p.Leu1962=)
c.1320C= (p.Leu440=)
c.2114C=
c.5778C= (p.Leu1926=)
c.2967C= (p.Leu989=)
14g.91272826G>TCA487828686CCDC88Cc.5886C>A (p.Leu1962=)
c.1320C>A (p.Leu440=)
c.2114C>A
c.5778C>A (p.Leu1926=)
c.2967C>A (p.Leu989=)
 gnomAD v4
14g.91272827A>CCA390608601CCDC88Cc.5885T>G (p.Leu1962Arg)
c.1319T>G (p.Leu440Arg)
c.2113T>G
c.5777T>G (p.Leu1926Arg)
c.2966T>G (p.Leu989Arg)
14g.91272827A>GCA390608602CCDC88Cc.5885T>C (p.Leu1962Pro)
c.1319T>C (p.Leu440Pro)
c.2113T>C
c.5777T>C (p.Leu1926Pro)
c.2966T>C (p.Leu989Pro)
14g.91272827A>TCA390608605CCDC88Cc.5885T>A (p.Leu1962His)
c.1319T>A (p.Leu440His)
c.2113T>A
c.5777T>A (p.Leu1926His)
c.2966T>A (p.Leu989His)
 gnomAD v4
14g.91272828G>ACA265517376CCDC88Cc.5884C>T (p.Leu1962Phe)
c.1318C>T (p.Leu440Phe)
c.2112C>T
c.5776C>T (p.Leu1926Phe)
c.2965C>T (p.Leu989Phe)
 dbSNP gnomAD v4
14g.91272828G>CCA390608611CCDC88Cc.5884C>G (p.Leu1962Val)
c.1318C>G (p.Leu440Val)
c.2112C>G
c.5776C>G (p.Leu1926Val)
c.2965C>G (p.Leu989Val)
14g.91272828G=CA2154900567CCDC88Cc.5884C= (p.Leu1962=)
c.1318C= (p.Leu440=)
c.2112C=
c.5776C= (p.Leu1926=)
c.2965C= (p.Leu989=)
14g.91272828G>TCA7308568CCDC88Cc.5884C>A (p.Leu1962Ile)
c.1318C>A (p.Leu440Ile)
c.2112C>A
c.5776C>A (p.Leu1926Ile)
c.2965C>A (p.Leu989Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272829G>ACA487828689CCDC88Cc.5883C>T (p.Ser1961=)
c.1317C>T (p.Ser439=)
c.2111C>T
c.5775C>T (p.Ser1925=)
c.2964C>T (p.Ser988=)
 gnomAD v4
14g.91272829G>CCA390608614CCDC88Cc.5883C>G (p.Ser1961Arg)
c.1317C>G (p.Ser439Arg)
c.2111C>G
c.5775C>G (p.Ser1925Arg)
c.2964C>G (p.Ser988Arg)
14g.91272829G>TCA390608616CCDC88Cc.5883C>A (p.Ser1961Arg)
c.1317C>A (p.Ser439Arg)
c.2111C>A
c.5775C>A (p.Ser1925Arg)
c.2964C>A (p.Ser988Arg)
 ClinVar gnomAD v4
14g.91272830C>ACA390608620CCDC88Cc.5882G>T (p.Ser1961Ile)
c.1316G>T (p.Ser439Ile)
c.2110G>T
c.5774G>T (p.Ser1925Ile)
c.2963G>T (p.Ser988Ile)
 gnomAD v4
14g.91272830C>GCA390608622CCDC88Cc.5882G>C (p.Ser1961Thr)
c.1316G>C (p.Ser439Thr)
c.2110G>C
c.5774G>C (p.Ser1925Thr)
c.2963G>C (p.Ser988Thr)
14g.91272830C>TCA390608624CCDC88Cc.5882G>A (p.Ser1961Asn)
c.1316G>A (p.Ser439Asn)
c.2110G>A
c.5774G>A (p.Ser1925Asn)
c.2963G>A (p.Ser988Asn)
 gnomAD v4
14g.91272831T>ACA390608626CCDC88Cc.5881A>T (p.Ser1961Cys)
c.1315A>T (p.Ser439Cys)
c.2109A>T
c.5773A>T (p.Ser1925Cys)
c.2962A>T (p.Ser988Cys)
14g.91272831T>CCA390608628CCDC88Cc.5881A>G (p.Ser1961Gly)
c.1315A>G (p.Ser439Gly)
c.2109A>G
c.5773A>G (p.Ser1925Gly)
c.2962A>G (p.Ser988Gly)
 gnomAD v4
14g.91272831T>GCA390608630CCDC88Cc.5881A>C (p.Ser1961Arg)
c.1315A>C (p.Ser439Arg)
c.2109A>C
c.5773A>C (p.Ser1925Arg)
c.2962A>C (p.Ser988Arg)
14g.91272832G>ACA487828697CCDC88Cc.5880C>T (p.Leu1960=)
c.1314C>T (p.Leu438=)
c.2108C>T
c.5772C>T (p.Leu1924=)
c.2961C>T (p.Leu987=)
 gnomAD v4
14g.91272832G>CCA487828694CCDC88Cc.5880C>G (p.Leu1960=)
c.1314C>G (p.Leu438=)
c.2108C>G
c.5772C>G (p.Leu1924=)
c.2961C>G (p.Leu987=)
14g.91272832G>TCA487828695CCDC88Cc.5880C>A (p.Leu1960=)
c.1314C>A (p.Leu438=)
c.2108C>A
c.5772C>A (p.Leu1924=)
c.2961C>A (p.Leu987=)
 gnomAD v4
14g.91272833A>CCA390608632CCDC88Cc.5879T>G (p.Leu1960Arg)
c.1313T>G (p.Leu438Arg)
c.2107T>G
c.5771T>G (p.Leu1924Arg)
c.2960T>G (p.Leu987Arg)
14g.91272833A>GCA390608633CCDC88Cc.5879T>C (p.Leu1960Pro)
c.1313T>C (p.Leu438Pro)
c.2107T>C
c.5771T>C (p.Leu1924Pro)
c.2960T>C (p.Leu987Pro)
14g.91272833A>TCA390608636CCDC88Cc.5879T>A (p.Leu1960His)
c.1313T>A (p.Leu438His)
c.2107T>A
c.5771T>A (p.Leu1924His)
c.2960T>A (p.Leu987His)
14g.91272834G>ACA390608640CCDC88Cc.5878C>T (p.Leu1960Phe)
c.1312C>T (p.Leu438Phe)
c.2106C>T
c.5770C>T (p.Leu1924Phe)
c.2959C>T (p.Leu987Phe)
 dbSNP gnomAD v2 gnomAD v4
14g.91272834G>CCA390608642CCDC88Cc.5878C>G (p.Leu1960Val)
c.1312C>G (p.Leu438Val)
c.2106C>G
c.5770C>G (p.Leu1924Val)
c.2959C>G (p.Leu987Val)
14g.91272834G=CA2154900570CCDC88Cc.5878C= (p.Leu1960=)
c.1312C= (p.Leu438=)
c.2106C=
c.5770C= (p.Leu1924=)
c.2959C= (p.Leu987=)
14g.91272834G>TCA390608644CCDC88Cc.5878C>A (p.Leu1960Ile)
c.1312C>A (p.Leu438Ile)
c.2106C>A
c.5770C>A (p.Leu1924Ile)
c.2959C>A (p.Leu987Ile)
 gnomAD v4
14g.91272835C>ACA487828698CCDC88Cc.5877G>T (p.Gly1959=)
c.1311G>T (p.Gly437=)
c.2105G>T
c.5769G>T (p.Gly1923=)
c.2958G>T (p.Gly986=)
 gnomAD v4
14g.91272835C=CA2154900573CCDC88Cc.5877G= (p.Gly1959=)
c.1311G= (p.Gly437=)
c.2105G=
c.5769G= (p.Gly1923=)
c.2958G= (p.Gly986=)
14g.91272835C>GCA487828700CCDC88Cc.5877G>C (p.Gly1959=)
c.1311G>C (p.Gly437=)
c.2105G>C
c.5769G>C (p.Gly1923=)
c.2958G>C (p.Gly986=)
14g.91272835C>TCA487828703CCDC88Cc.5877G>A (p.Gly1959=)
c.1311G>A (p.Gly437=)
c.2105G>A
c.5769G>A (p.Gly1923=)
c.2958G>A (p.Gly986=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272836C>ACA390608651CCDC88Cc.5876G>T (p.Gly1959Val)
c.1310G>T (p.Gly437Val)
c.2104G>T
c.5768G>T (p.Gly1923Val)
c.2957G>T (p.Gly986Val)
14g.91272836C>GCA390608649CCDC88Cc.5876G>C (p.Gly1959Ala)
c.1310G>C (p.Gly437Ala)
c.2104G>C
c.5768G>C (p.Gly1923Ala)
c.2957G>C (p.Gly986Ala)
14g.91272836C>TCA390608647CCDC88Cc.5876G>A (p.Gly1959Glu)
c.1310G>A (p.Gly437Glu)
c.2104G>A
c.5768G>A (p.Gly1923Glu)
c.2957G>A (p.Gly986Glu)
14g.91272837C>ACA390608653CCDC88Cc.5875G>T (p.Gly1959Trp)
c.1309G>T (p.Gly437Trp)
c.2103G>T
c.5767G>T (p.Gly1923Trp)
c.2956G>T (p.Gly986Trp)
 gnomAD v4
14g.91272837C>GCA390608655CCDC88Cc.5875G>C (p.Gly1959Arg)
c.1309G>C (p.Gly437Arg)
c.2103G>C
c.5767G>C (p.Gly1923Arg)
c.2956G>C (p.Gly986Arg)
14g.91272837C>TCA390608658CCDC88Cc.5875G>A (p.Gly1959Arg)
c.1309G>A (p.Gly437Arg)
c.2103G>A
c.5767G>A (p.Gly1923Arg)
c.2956G>A (p.Gly986Arg)
 gnomAD v4
14g.91272838T>ACA487828705CCDC88Cc.5874A>T (p.Ala1958=)
c.1308A>T (p.Ala436=)
c.2102A>T
c.5766A>T (p.Ala1922=)
c.2955A>T (p.Ala985=)
 gnomAD v4
14g.91272838T>CCA487828706CCDC88Cc.5874A>G (p.Ala1958=)
c.1308A>G (p.Ala436=)
c.2102A>G
c.5766A>G (p.Ala1922=)
c.2955A>G (p.Ala985=)
 gnomAD v4
14g.91272838T>GCA487828707CCDC88Cc.5874A>C (p.Ala1958=)
c.1308A>C (p.Ala436=)
c.2102A>C
c.5766A>C (p.Ala1922=)
c.2955A>C (p.Ala985=)
14g.91272839G>ACA390608661CCDC88Cc.5873C>T (p.Ala1958Val)
c.1307C>T (p.Ala436Val)
c.2101C>T
c.5765C>T (p.Ala1922Val)
c.2954C>T (p.Ala985Val)
 gnomAD v4
14g.91272839G>CCA390608663CCDC88Cc.5873C>G (p.Ala1958Gly)
c.1307C>G (p.Ala436Gly)
c.2101C>G
c.5765C>G (p.Ala1922Gly)
c.2954C>G (p.Ala985Gly)
14g.91272839G=CA2154900577CCDC88Cc.5873C= (p.Ala1958=)
c.1307C= (p.Ala436=)
c.2101C=
c.5765C= (p.Ala1922=)
c.2954C= (p.Ala985=)
14g.91272839G>TCA390608665CCDC88Cc.5873C>A (p.Ala1958Glu)
c.1307C>A (p.Ala436Glu)
c.2101C>A
c.5765C>A (p.Ala1922Glu)
c.2954C>A (p.Ala985Glu)
 dbSNP gnomAD v4
14g.91272840C>ACA390608669CCDC88Cc.5872G>T (p.Ala1958Ser)
c.1306G>T (p.Ala436Ser)
c.2100G>T
c.5764G>T (p.Ala1922Ser)
c.2953G>T (p.Ala985Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.91272840C=CA2154900583CCDC88Cc.5872G= (p.Ala1958=)
c.1306G= (p.Ala436=)
c.2100G=
c.5764G= (p.Ala1922=)
c.2953G= (p.Ala985=)
14g.91272840C>GCA390608671CCDC88Cc.5872G>C (p.Ala1958Pro)
c.1306G>C (p.Ala436Pro)
c.2100G>C
c.5764G>C (p.Ala1922Pro)
c.2953G>C (p.Ala985Pro)
14g.91272840C>TCA390608674CCDC88Cc.5872G>A (p.Ala1958Thr)
c.1306G>A (p.Ala436Thr)
c.2100G>A
c.5764G>A (p.Ala1922Thr)
c.2953G>A (p.Ala985Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.91272841C>ACA487828712CCDC88Cc.5871G>T (p.Arg1957=)
c.1305G>T (p.Arg435=)
c.2099G>T
c.5763G>T (p.Arg1921=)
c.2952G>T (p.Arg984=)
 gnomAD v4
14g.91272841C>GCA487828713CCDC88Cc.5871G>C (p.Arg1957=)
c.1305G>C (p.Arg435=)
c.2099G>C
c.5763G>C (p.Arg1921=)
c.2952G>C (p.Arg984=)
14g.91272841C>TCA487828714CCDC88Cc.5871G>A (p.Arg1957=)
c.1305G>A (p.Arg435=)
c.2099G>A
c.5763G>A (p.Arg1921=)
c.2952G>A (p.Arg984=)
14g.91272842C>ACA390608676CCDC88Cc.5870G>T (p.Arg1957Leu)
c.1304G>T (p.Arg435Leu)
c.2098G>T
c.5762G>T (p.Arg1921Leu)
c.2951G>T (p.Arg984Leu)
 gnomAD v4
14g.91272842C=CA2154900589CCDC88Cc.5870G= (p.Arg1957=)
c.1304G= (p.Arg435=)
c.2098G=
c.5762G= (p.Arg1921=)
c.2951G= (p.Arg984=)
14g.91272842C>GCA390608678CCDC88Cc.5870G>C (p.Arg1957Pro)
c.1304G>C (p.Arg435Pro)
c.2098G>C
c.5762G>C (p.Arg1921Pro)
c.2951G>C (p.Arg984Pro)
 gnomAD v4
14g.91272842C>TCA7308569CCDC88Cc.5870G>A (p.Arg1957Gln)
c.1304G>A (p.Arg435Gln)
c.2098G>A
c.5762G>A (p.Arg1921Gln)
c.2951G>A (p.Arg984Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272843G>ACA7308570CCDC88Cc.5869C>T (p.Arg1957Trp)
c.1303C>T (p.Arg435Trp)
c.2097C>T
c.5761C>T (p.Arg1921Trp)
c.2950C>T (p.Arg984Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272843G>CCA390608684CCDC88Cc.5869C>G (p.Arg1957Gly)
c.1303C>G (p.Arg435Gly)
c.2097C>G
c.5761C>G (p.Arg1921Gly)
c.2950C>G (p.Arg984Gly)
 dbSNP
14g.91272843G=CA2154900591CCDC88Cc.5869C= (p.Arg1957=)
c.1303C= (p.Arg435=)
c.2097C=
c.5761C= (p.Arg1921=)
c.2950C= (p.Arg984=)
14g.91272843G>TCA487828715CCDC88Cc.5869C>A (p.Arg1957=)
c.1303C>A (p.Arg435=)
c.2097C>A
c.5761C>A (p.Arg1921=)
c.2950C>A (p.Arg984=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272844G>ACA487828717CCDC88Cc.5868C>T (p.Val1956=)
c.1302C>T (p.Val434=)
c.2096C>T
c.5760C>T (p.Val1920=)
c.2949C>T (p.Val983=)
14g.91272844G>CCA487828718CCDC88Cc.5868C>G (p.Val1956=)
c.1302C>G (p.Val434=)
c.2096C>G
c.5760C>G (p.Val1920=)
c.2949C>G (p.Val983=)
14g.91272844G>TCA487828720CCDC88Cc.5868C>A (p.Val1956=)
c.1302C>A (p.Val434=)
c.2096C>A
c.5760C>A (p.Val1920=)
c.2949C>A (p.Val983=)
 gnomAD v4
14g.91272845A=CA2154900593CCDC88Cc.5867T= (p.Val1956=)
c.1301T= (p.Val434=)
c.2095T=
c.5759T= (p.Val1920=)
c.2948T= (p.Val983=)
14g.91272845A>CCA390608689CCDC88Cc.5867T>G (p.Val1956Gly)
c.1301T>G (p.Val434Gly)
c.2095T>G
c.5759T>G (p.Val1920Gly)
c.2948T>G (p.Val983Gly)
14g.91272845A>GCA390608691CCDC88Cc.5867T>C (p.Val1956Ala)
c.1301T>C (p.Val434Ala)
c.2095T>C
c.5759T>C (p.Val1920Ala)
c.2948T>C (p.Val983Ala)
14g.91272845A>TCA390608688CCDC88Cc.5867T>A (p.Val1956Asp)
c.1301T>A (p.Val434Asp)
c.2095T>A
c.5759T>A (p.Val1920Asp)
c.2948T>A (p.Val983Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.91272846C>ACA390608694CCDC88Cc.5866G>T (p.Val1956Phe)
c.1300G>T (p.Val434Phe)
c.2094G>T
c.5758G>T (p.Val1920Phe)
c.2947G>T (p.Val983Phe)
 gnomAD v4
14g.91272846C>GCA390608696CCDC88Cc.5866G>C (p.Val1956Leu)
c.1300G>C (p.Val434Leu)
c.2094G>C
c.5758G>C (p.Val1920Leu)
c.2947G>C (p.Val983Leu)
14g.91272846C>TCA390608698CCDC88Cc.5866G>A (p.Val1956Ile)
c.1300G>A (p.Val434Ile)
c.2094G>A
c.5758G>A (p.Val1920Ile)
c.2947G>A (p.Val983Ile)
 gnomAD v4
14g.91272847A>CCA487828724CCDC88Cc.5865T>G (p.Pro1955=)
c.1299T>G (p.Pro433=)
c.2093T>G
c.5757T>G (p.Pro1919=)
c.2946T>G (p.Pro982=)
14g.91272847A>GCA487828726CCDC88Cc.5865T>C (p.Pro1955=)
c.1299T>C (p.Pro433=)
c.2093T>C
c.5757T>C (p.Pro1919=)
c.2946T>C (p.Pro982=)
 gnomAD v4
14g.91272847A>TCA487828727CCDC88Cc.5865T>A (p.Pro1955=)
c.1299T>A (p.Pro433=)
c.2093T>A
c.5757T>A (p.Pro1919=)
c.2946T>A (p.Pro982=)
 gnomAD v4
14g.91272848G>ACA390608701CCDC88Cc.5864C>T (p.Pro1955Leu)
c.1298C>T (p.Pro433Leu)
c.2092C>T
c.5756C>T (p.Pro1919Leu)
c.2945C>T (p.Pro982Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91272848G>CCA390608703CCDC88Cc.5864C>G (p.Pro1955Arg)
c.1298C>G (p.Pro433Arg)
c.2092C>G
c.5756C>G (p.Pro1919Arg)
c.2945C>G (p.Pro982Arg)
14g.91272848G=CA2154900595CCDC88Cc.5864C= (p.Pro1955=)
c.1298C= (p.Pro433=)
c.2092C=
c.5756C= (p.Pro1919=)
c.2945C= (p.Pro982=)
14g.91272848G>TCA390608706CCDC88Cc.5864C>A (p.Pro1955His)
c.1298C>A (p.Pro433His)
c.2092C>A
c.5756C>A (p.Pro1919His)
c.2945C>A (p.Pro982His)
 gnomAD v4
14g.91272851delCA2626127414CCDC88Cc.5864del (p.Pro1955LeufsTer?)
c.1298del (p.Pro433LeufsTer?)
c.2092del
c.5756del (p.Pro1919LeufsTer?)
c.2945del (p.Pro982LeufsTer?)
 gnomAD v4
14g.91272849G>ACA390608709CCDC88Cc.5863C>T (p.Pro1955Ser)
c.1297C>T (p.Pro433Ser)
c.2091C>T
c.5755C>T (p.Pro1919Ser)
c.2944C>T (p.Pro982Ser)
 gnomAD v4
14g.91272849G>CCA265517398CCDC88Cc.5863C>G (p.Pro1955Ala)
c.1297C>G (p.Pro433Ala)
c.2091C>G
c.5755C>G (p.Pro1919Ala)
c.2944C>G (p.Pro982Ala)
 dbSNP gnomAD v4
14g.91272849G=CA2154900600CCDC88Cc.5863C= (p.Pro1955=)
c.1297C= (p.Pro433=)
c.2091C=
c.5755C= (p.Pro1919=)
c.2944C= (p.Pro982=)
14g.91272849G>TCA390608713CCDC88Cc.5863C>A (p.Pro1955Thr)
c.1297C>A (p.Pro433Thr)
c.2091C>A
c.5755C>A (p.Pro1919Thr)
c.2944C>A (p.Pro982Thr)
 gnomAD v4
14g.91272850G>ACA487828732CCDC88Cc.5862C>T (p.Thr1954=)
c.1296C>T (p.Thr432=)
c.2090C>T
c.5754C>T (p.Thr1918=)
c.2943C>T (p.Thr981=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272850G>CCA487828733CCDC88Cc.5862C>G (p.Thr1954=)
c.1296C>G (p.Thr432=)
c.2090C>G
c.5754C>G (p.Thr1918=)
c.2943C>G (p.Thr981=)
14g.91272850G=CA2154900603CCDC88Cc.5862C= (p.Thr1954=)
c.1296C= (p.Thr432=)
c.2090C=
c.5754C= (p.Thr1918=)
c.2943C= (p.Thr981=)
14g.91272850G>TCA487828734CCDC88Cc.5862C>A (p.Thr1954=)
c.1296C>A (p.Thr432=)
c.2090C>A
c.5754C>A (p.Thr1918=)
c.2943C>A (p.Thr981=)
 gnomAD v4
14g.91272851G>ACA390608716CCDC88Cc.5861C>T (p.Thr1954Ile)
c.1295C>T (p.Thr432Ile)
c.2089C>T
c.5753C>T (p.Thr1918Ile)
c.2942C>T (p.Thr981Ile)
 gnomAD v4
14g.91272851G>CCA390608718CCDC88Cc.5861C>G (p.Thr1954Ser)
c.1295C>G (p.Thr432Ser)
c.2089C>G
c.5753C>G (p.Thr1918Ser)
c.2942C>G (p.Thr981Ser)
14g.91272851G=CA2154900604CCDC88Cc.5861C= (p.Thr1954=)
c.1295C= (p.Thr432=)
c.2089C=
c.5753C= (p.Thr1918=)
c.2942C= (p.Thr981=)
14g.91272851G>TCA7308571CCDC88Cc.5861C>A (p.Thr1954Asn)
c.1295C>A (p.Thr432Asn)
c.2089C>A
c.5753C>A (p.Thr1918Asn)
c.2942C>A (p.Thr981Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272852T>ACA390608725CCDC88Cc.5860A>T (p.Thr1954Ser)
c.1294A>T (p.Thr432Ser)
c.2088A>T
c.5752A>T (p.Thr1918Ser)
c.2941A>T (p.Thr981Ser)
14g.91272852T>CCA390608728CCDC88Cc.5860A>G (p.Thr1954Ala)
c.1294A>G (p.Thr432Ala)
c.2088A>G
c.5752A>G (p.Thr1918Ala)
c.2941A>G (p.Thr981Ala)
 gnomAD v4
14g.91272852T>GCA390608723CCDC88Cc.5860A>C (p.Thr1954Pro)
c.1294A>C (p.Thr432Pro)
c.2088A>C
c.5752A>C (p.Thr1918Pro)
c.2941A>C (p.Thr981Pro)
14g.91272853G>ACA487828742CCDC88Cc.5859C>T (p.Ile1953=)
c.1293C>T (p.Ile431=)
c.2087C>T
c.5751C>T (p.Ile1917=)
c.2940C>T (p.Ile980=)
14g.91272853G>CCA390608730CCDC88Cc.5859C>G (p.Ile1953Met)
c.1293C>G (p.Ile431Met)
c.2087C>G
c.5751C>G (p.Ile1917Met)
c.2940C>G (p.Ile980Met)
14g.91272853G>TCA487828739CCDC88Cc.5859C>A (p.Ile1953=)
c.1293C>A (p.Ile431=)
c.2087C>A
c.5751C>A (p.Ile1917=)
c.2940C>A (p.Ile980=)
 gnomAD v4
14g.91272854A>CCA390608733CCDC88Cc.5858T>G (p.Ile1953Ser)
c.1292T>G (p.Ile431Ser)
c.2086T>G
c.5750T>G (p.Ile1917Ser)
c.2939T>G (p.Ile980Ser)
14g.91272854A>GCA390608735CCDC88Cc.5858T>C (p.Ile1953Thr)
c.1292T>C (p.Ile431Thr)
c.2086T>C
c.5750T>C (p.Ile1917Thr)
c.2939T>C (p.Ile980Thr)
 gnomAD v4
14g.91272854A>TCA390608738CCDC88Cc.5858T>A (p.Ile1953Asn)
c.1292T>A (p.Ile431Asn)
c.2086T>A
c.5750T>A (p.Ile1917Asn)
c.2939T>A (p.Ile980Asn)
14g.91272855T>ACA390608746CCDC88Cc.5857A>T (p.Ile1953Phe)
c.1291A>T (p.Ile431Phe)
c.2085A>T
c.5749A>T (p.Ile1917Phe)
c.2938A>T (p.Ile980Phe)
14g.91272855T>CCA390608744CCDC88Cc.5857A>G (p.Ile1953Val)
c.1291A>G (p.Ile431Val)
c.2085A>G
c.5749A>G (p.Ile1917Val)
c.2938A>G (p.Ile980Val)
 dbSNP gnomAD v2 gnomAD v4
14g.91272855T>GCA390608742CCDC88Cc.5857A>C (p.Ile1953Leu)
c.1291A>C (p.Ile431Leu)
c.2085A>C
c.5749A>C (p.Ile1917Leu)
c.2938A>C (p.Ile980Leu)
14g.91272855T=CA2154900607CCDC88Cc.5857A= (p.Ile1953=)
c.1291A= (p.Ile431=)
c.2085A=
c.5749A= (p.Ile1917=)
c.2938A= (p.Ile980=)
14g.91272856G>ACA487828747CCDC88Cc.5856C>T (p.Thr1952=)
c.1290C>T (p.Thr430=)
c.2084C>T
c.5748C>T (p.Thr1916=)
c.2937C>T (p.Thr979=)
 dbSNP gnomAD v3 gnomAD v4
14g.91272856G>CCA487828748CCDC88Cc.5856C>G (p.Thr1952=)
c.1290C>G (p.Thr430=)
c.2084C>G
c.5748C>G (p.Thr1916=)
c.2937C>G (p.Thr979=)
14g.91272856G=CA2154900613CCDC88Cc.5856C= (p.Thr1952=)
c.1290C= (p.Thr430=)
c.2084C=
c.5748C= (p.Thr1916=)
c.2937C= (p.Thr979=)
14g.91272856G>TCA487828749CCDC88Cc.5856C>A (p.Thr1952=)
c.1290C>A (p.Thr430=)
c.2084C>A
c.5748C>A (p.Thr1916=)
c.2937C>A (p.Thr979=)
 gnomAD v4
14g.91272857G>ACA390608749CCDC88Cc.5855C>T (p.Thr1952Ile)
c.1289C>T (p.Thr430Ile)
c.2083C>T
c.5747C>T (p.Thr1916Ile)
c.2936C>T (p.Thr979Ile)
 gnomAD v4
14g.91272857G>CCA390608750CCDC88Cc.5855C>G (p.Thr1952Ser)
c.1289C>G (p.Thr430Ser)
c.2083C>G
c.5747C>G (p.Thr1916Ser)
c.2936C>G (p.Thr979Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91272857G=CA2154900615CCDC88Cc.5855C= (p.Thr1952=)
c.1289C= (p.Thr430=)
c.2083C=
c.5747C= (p.Thr1916=)
c.2936C= (p.Thr979=)
14g.91272857G>TCA390608751CCDC88Cc.5855C>A (p.Thr1952Asn)
c.1289C>A (p.Thr430Asn)
c.2083C>A
c.5747C>A (p.Thr1916Asn)
c.2936C>A (p.Thr979Asn)
14g.91272858T>ACA390608755CCDC88Cc.5854A>T (p.Thr1952Ser)
c.1288A>T (p.Thr430Ser)
c.2082A>T
c.5746A>T (p.Thr1916Ser)
c.2935A>T (p.Thr979Ser)
14g.91272858T>CCA390608757CCDC88Cc.5854A>G (p.Thr1952Ala)
c.1288A>G (p.Thr430Ala)
c.2082A>G
c.5746A>G (p.Thr1916Ala)
c.2935A>G (p.Thr979Ala)
14g.91272858T>GCA390608759CCDC88Cc.5854A>C (p.Thr1952Pro)
c.1288A>C (p.Thr430Pro)
c.2082A>C
c.5746A>C (p.Thr1916Pro)
c.2935A>C (p.Thr979Pro)
14g.91272859G>ACA487828590CCDC88Cc.5853C>T (p.Ala1951=)
c.1287C>T (p.Ala429=)
c.2081C>T
c.5745C>T (p.Ala1915=)
c.2934C>T (p.Ala978=)
 gnomAD v4
14g.91272859G>CCA487828588CCDC88Cc.5853C>G (p.Ala1951=)
c.1287C>G (p.Ala429=)
c.2081C>G
c.5745C>G (p.Ala1915=)
c.2934C>G (p.Ala978=)
14g.91272859G>TCA487828589CCDC88Cc.5853C>A (p.Ala1951=)
c.1287C>A (p.Ala429=)
c.2081C>A
c.5745C>A (p.Ala1915=)
c.2934C>A (p.Ala978=)
 gnomAD v4
14g.91272860G>ACA390608763CCDC88Cc.5852C>T (p.Ala1951Val)
c.1286C>T (p.Ala429Val)
c.2080C>T
c.5744C>T (p.Ala1915Val)
c.2933C>T (p.Ala978Val)
 gnomAD v4
14g.91272860G>CCA390608766CCDC88Cc.5852C>G (p.Ala1951Gly)
c.1286C>G (p.Ala429Gly)
c.2080C>G
c.5744C>G (p.Ala1915Gly)
c.2933C>G (p.Ala978Gly)
14g.91272860G>TCA390608764CCDC88Cc.5852C>A (p.Ala1951Asp)
c.1286C>A (p.Ala429Asp)
c.2080C>A
c.5744C>A (p.Ala1915Asp)
c.2933C>A (p.Ala978Asp)
 gnomAD v4
14g.91272861C>ACA390608769CCDC88Cc.5851G>T (p.Ala1951Ser)
c.1285G>T (p.Ala429Ser)
c.2079G>T
c.5743G>T (p.Ala1915Ser)
c.2932G>T (p.Ala978Ser)
 gnomAD v4
14g.91272861C>GCA390608773CCDC88Cc.5851G>C (p.Ala1951Pro)
c.1285G>C (p.Ala429Pro)
c.2079G>C
c.5743G>C (p.Ala1915Pro)
c.2932G>C (p.Ala978Pro)
14g.91272861C>TCA390608771CCDC88Cc.5851G>A (p.Ala1951Thr)
c.1285G>A (p.Ala429Thr)
c.2079G>A
c.5743G>A (p.Ala1915Thr)
c.2932G>A (p.Ala978Thr)
 gnomAD v4
14g.91272862C>ACA487828597CCDC88Cc.5850G>T (p.Val1950=)
c.1284G>T (p.Val428=)
c.2078G>T
c.5742G>T (p.Val1914=)
c.2931G>T (p.Val977=)
14g.91272862C>GCA487828598CCDC88Cc.5850G>C (p.Val1950=)
c.1284G>C (p.Val428=)
c.2078G>C
c.5742G>C (p.Val1914=)
c.2931G>C (p.Val977=)
14g.91272862C>TCA487828599CCDC88Cc.5850G>A (p.Val1950=)
c.1284G>A (p.Val428=)
c.2078G>A
c.5742G>A (p.Val1914=)
c.2931G>A (p.Val977=)
 gnomAD v4
14g.91272863A>CCA390608776CCDC88Cc.5849T>G (p.Val1950Gly)
c.1283T>G (p.Val428Gly)
c.2077T>G
c.5741T>G (p.Val1914Gly)
c.2930T>G (p.Val977Gly)
14g.91272863A>GCA390608778CCDC88Cc.5849T>C (p.Val1950Ala)
c.1283T>C (p.Val428Ala)
c.2077T>C
c.5741T>C (p.Val1914Ala)
c.2930T>C (p.Val977Ala)
14g.91272863A>TCA390608780CCDC88Cc.5849T>A (p.Val1950Glu)
c.1283T>A (p.Val428Glu)
c.2077T>A
c.5741T>A (p.Val1914Glu)
c.2930T>A (p.Val977Glu)
14g.91272864C>ACA390608783CCDC88Cc.5848G>T (p.Val1950Leu)
c.1282G>T (p.Val428Leu)
c.2076G>T
c.5740G>T (p.Val1914Leu)
c.2929G>T (p.Val977Leu)
 gnomAD v4
14g.91272864C=CA2154900618CCDC88Cc.5848G= (p.Val1950=)
c.1282G= (p.Val428=)
c.2076G=
c.5740G= (p.Val1914=)
c.2929G= (p.Val977=)
14g.91272864C>GCA390608785CCDC88Cc.5848G>C (p.Val1950Leu)
c.1282G>C (p.Val428Leu)
c.2076G>C
c.5740G>C (p.Val1914Leu)
c.2929G>C (p.Val977Leu)
14g.91272864C>TCA390608786CCDC88Cc.5848G>A (p.Val1950Met)
c.1282G>A (p.Val428Met)
c.2076G>A
c.5740G>A (p.Val1914Met)
c.2929G>A (p.Val977Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272865C>ACA390608788CCDC88Cc.5847G>T (p.Glu1949Asp)
c.1281G>T (p.Glu427Asp)
c.2075G>T
c.5739G>T (p.Glu1913Asp)
c.2928G>T (p.Glu976Asp)
 gnomAD v4
14g.91272865C>GCA390608789CCDC88Cc.5847G>C (p.Glu1949Asp)
c.1281G>C (p.Glu427Asp)
c.2075G>C
c.5739G>C (p.Glu1913Asp)
c.2928G>C (p.Glu976Asp)
 gnomAD v4
14g.91272865C>TCA487828604CCDC88Cc.5847G>A (p.Glu1949=)
c.1281G>A (p.Glu427=)
c.2075G>A
c.5739G>A (p.Glu1913=)
c.2928G>A (p.Glu976=)
 gnomAD v4
14g.91272866T>ACA390608791CCDC88Cc.5846A>T (p.Glu1949Val)
c.1280A>T (p.Glu427Val)
c.2074A>T
c.5738A>T (p.Glu1913Val)
c.2927A>T (p.Glu976Val)
14g.91272866T>CCA390608794CCDC88Cc.5846A>G (p.Glu1949Gly)
c.1280A>G (p.Glu427Gly)
c.2074A>G
c.5738A>G (p.Glu1913Gly)
c.2927A>G (p.Glu976Gly)
 gnomAD v4
14g.91272866T>GCA390608796CCDC88Cc.5846A>C (p.Glu1949Ala)
c.1280A>C (p.Glu427Ala)
c.2074A>C
c.5738A>C (p.Glu1913Ala)
c.2927A>C (p.Glu976Ala)
14g.91272866T=CA2154900625CCDC88Cc.5846A= (p.Glu1949=)
c.1280A= (p.Glu427=)
c.2074A=
c.5738A= (p.Glu1913=)
c.2927A= (p.Glu976=)
14g.91272867C>ACA7308572CCDC88Cc.5845G>T (p.Glu1949Ter)
c.1279G>T (p.Glu427Ter)
c.2073G>T
c.5737G>T (p.Glu1913Ter)
c.2926G>T (p.Glu976Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272867C=CA2154900633CCDC88Cc.5845G= (p.Glu1949=)
c.1279G= (p.Glu427=)
c.2073G=
c.5737G= (p.Glu1913=)
c.2926G= (p.Glu976=)
14g.91272867C>GCA390608798CCDC88Cc.5845G>C (p.Glu1949Gln)
c.1279G>C (p.Glu427Gln)
c.2073G>C
c.5737G>C (p.Glu1913Gln)
c.2926G>C (p.Glu976Gln)
14g.91272867C>TCA390608801CCDC88Cc.5845G>A (p.Glu1949Lys)
c.1279G>A (p.Glu427Lys)
c.2073G>A
c.5737G>A (p.Glu1913Lys)
c.2926G>A (p.Glu976Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272870dupCA265517402CCDC88Cc.5845dup (p.Glu1949GlyfsTer27)
c.1279dup (p.Glu427GlyfsTer27)
c.2073dup
c.5737dup (p.Glu1913GlyfsTer27)
c.2926dup (p.Glu976GlyfsTer27)
 dbSNP
14g.91272870delCA2626127450CCDC88Cc.5845del (p.Glu1949ArgfsTer?)
c.1279del (p.Glu427ArgfsTer?)
c.2073del
c.5737del (p.Glu1913ArgfsTer?)
c.2926del (p.Glu976ArgfsTer?)
 gnomAD v4
14g.91272868C>ACA265517410CCDC88Cc.5844G>T (p.Gly1948=)
c.1278G>T (p.Gly426=)
c.2072G>T
c.5736G>T (p.Gly1912=)
c.2925G>T (p.Gly975=)
 dbSNP gnomAD v4
14g.91272868C=CA2154900636CCDC88Cc.5844G= (p.Gly1948=)
c.1278G= (p.Gly426=)
c.2072G=
c.5736G= (p.Gly1912=)
c.2925G= (p.Gly975=)
14g.91272868C>GCA487828609CCDC88Cc.5844G>C (p.Gly1948=)
c.1278G>C (p.Gly426=)
c.2072G>C
c.5736G>C (p.Gly1912=)
c.2925G>C (p.Gly975=)
14g.91272868C>TCA487828611CCDC88Cc.5844G>A (p.Gly1948=)
c.1278G>A (p.Gly426=)
c.2072G>A
c.5736G>A (p.Gly1912=)
c.2925G>A (p.Gly975=)
 gnomAD v4
14g.91272869C>ACA390608805CCDC88Cc.5843G>T (p.Gly1948Val)
c.1277G>T (p.Gly426Val)
c.2071G>T
c.5735G>T (p.Gly1912Val)
c.2924G>T (p.Gly975Val)
 gnomAD v4
14g.91272869C=CA2154900642CCDC88Cc.5843G= (p.Gly1948=)
c.1277G= (p.Gly426=)
c.2071G=
c.5735G= (p.Gly1912=)
c.2924G= (p.Gly975=)
14g.91272869C>GCA390608807CCDC88Cc.5843G>C (p.Gly1948Ala)
c.1277G>C (p.Gly426Ala)
c.2071G>C
c.5735G>C (p.Gly1912Ala)
c.2924G>C (p.Gly975Ala)
14g.91272869C>TCA390608810CCDC88Cc.5843G>A (p.Gly1948Glu)
c.1277G>A (p.Gly426Glu)
c.2071G>A
c.5735G>A (p.Gly1912Glu)
c.2924G>A (p.Gly975Glu)
 dbSNP
14g.91272869_91272871delinsCCTCA2154900641CCDC88Cc.5841_5843delinsAGG (p.Ser1947=)
c.1275_1277delinsAGG (p.Ser425=)
c.2069_2071delinsAGG
c.5733_5735delinsAGG (p.Ser1911=)
c.2922_2924delinsAGG (p.Ser974=)
14g.91272870C>ACA390608813CCDC88Cc.5842G>T (p.Gly1948Trp)
c.1276G>T (p.Gly426Trp)
c.2070G>T
c.5734G>T (p.Gly1912Trp)
c.2923G>T (p.Gly975Trp)
 gnomAD v4
14g.91272870C=CA2154900650CCDC88Cc.5842G= (p.Gly1948=)
c.1276G= (p.Gly426=)
c.2070G=
c.5734G= (p.Gly1912=)
c.2923G= (p.Gly975=)
14g.91272870C>GCA390608816CCDC88Cc.5842G>C (p.Gly1948Arg)
c.1276G>C (p.Gly426Arg)
c.2070G>C
c.5734G>C (p.Gly1912Arg)
c.2923G>C (p.Gly975Arg)
14g.91272870C>TCA7308573CCDC88Cc.5842G>A (p.Gly1948Arg)
c.1276G>A (p.Gly426Arg)
c.2070G>A
c.5734G>A (p.Gly1912Arg)
c.2923G>A (p.Gly975Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272870_91272871delCA130650CCDC88Cc.5841_5842del (p.Glu1949GlyfsTer26)
c.1275_1276del (p.Glu427GlyfsTer26)
c.2069_2070del
c.5733_5734del (p.Glu1913GlyfsTer26)
c.2922_2923del (p.Glu976GlyfsTer26)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272870_91272871insCTCA709860628CCDC88Cc.5841_5842insAG (p.Gly1948ArgfsTer?)
c.1275_1276insAG (p.Gly426ArgfsTer?)
c.2069_2070insAG
c.5733_5734insAG (p.Gly1912ArgfsTer?)
c.2922_2923insAG (p.Gly975ArgfsTer?)
14g.91272871T>ACA487828621CCDC88Cc.5841A>T (p.Ser1947=)
c.1275A>T (p.Ser425=)
c.2069A>T
c.5733A>T (p.Ser1911=)
c.2922A>T (p.Ser974=)
 dbSNP gnomAD v4
14g.91272871T>CCA487828622CCDC88Cc.5841A>G (p.Ser1947=)
c.1275A>G (p.Ser425=)
c.2069A>G
c.5733A>G (p.Ser1911=)
c.2922A>G (p.Ser974=)
 ClinVar dbSNP gnomAD v2
14g.91272871T>GCA487828623CCDC88Cc.5841A>C (p.Ser1947=)
c.1275A>C (p.Ser425=)
c.2069A>C
c.5733A>C (p.Ser1911=)
c.2922A>C (p.Ser974=)
14g.91272871T=CA2154900660CCDC88Cc.5841A= (p.Ser1947=)
c.1275A= (p.Ser425=)
c.2069A=
c.5733A= (p.Ser1911=)
c.2922A= (p.Ser974=)
14g.91272872G>ACA390608821CCDC88Cc.5840C>T (p.Ser1947Leu)
c.1274C>T (p.Ser425Leu)
c.2068C>T
c.5732C>T (p.Ser1911Leu)
c.2921C>T (p.Ser974Leu)
 gnomAD v4
14g.91272872G>CCA390608824CCDC88Cc.5840C>G (p.Ser1947Ter)
c.1274C>G (p.Ser425Ter)
c.2068C>G
c.5732C>G (p.Ser1911Ter)
c.2921C>G (p.Ser974Ter)
14g.91272872G>TCA390608826CCDC88Cc.5840C>A (p.Ser1947Ter)
c.1274C>A (p.Ser425Ter)
c.2068C>A
c.5732C>A (p.Ser1911Ter)
c.2921C>A (p.Ser974Ter)
 gnomAD v4
14g.91272873A>CCA390608833CCDC88Cc.5839T>G (p.Ser1947Ala)
c.1273T>G (p.Ser425Ala)
c.2067T>G
c.5731T>G (p.Ser1911Ala)
c.2920T>G (p.Ser974Ala)
14g.91272873A>GCA390608835CCDC88Cc.5839T>C (p.Ser1947Pro)
c.1273T>C (p.Ser425Pro)
c.2067T>C
c.5731T>C (p.Ser1911Pro)
c.2920T>C (p.Ser974Pro)
 gnomAD v4
14g.91272873A>TCA390608830CCDC88Cc.5839T>A (p.Ser1947Thr)
c.1273T>A (p.Ser425Thr)
c.2067T>A
c.5731T>A (p.Ser1911Thr)
c.2920T>A (p.Ser974Thr)
14g.91272874G>ACA487828629CCDC88Cc.5838C>T (p.Arg1946=)
c.1272C>T (p.Arg424=)
c.2066C>T
c.5730C>T (p.Arg1910=)
c.2919C>T (p.Arg973=)
 gnomAD v4
14g.91272874G>CCA487828630CCDC88Cc.5838C>G (p.Arg1946=)
c.1272C>G (p.Arg424=)
c.2066C>G
c.5730C>G (p.Arg1910=)
c.2919C>G (p.Arg973=)
14g.91272874G>TCA487828632CCDC88Cc.5838C>A (p.Arg1946=)
c.1272C>A (p.Arg424=)
c.2066C>A
c.5730C>A (p.Arg1910=)
c.2919C>A (p.Arg973=)
 gnomAD v4
14g.91272875C>ACA390608838CCDC88Cc.5837G>T (p.Arg1946Leu)
c.1271G>T (p.Arg424Leu)
c.2065G>T
c.5729G>T (p.Arg1910Leu)
c.2918G>T (p.Arg973Leu)
 gnomAD v4
14g.91272875C=CA2154900663CCDC88Cc.5837G= (p.Arg1946=)
c.1271G= (p.Arg424=)
c.2065G=
c.5729G= (p.Arg1910=)
c.2918G= (p.Arg973=)
14g.91272875C>GCA390608840CCDC88Cc.5837G>C (p.Arg1946Pro)
c.1271G>C (p.Arg424Pro)
c.2065G>C
c.5729G>C (p.Arg1910Pro)
c.2918G>C (p.Arg973Pro)
14g.91272875C>TCA7308574CCDC88Cc.5837G>A (p.Arg1946His)
c.1271G>A (p.Arg424His)
c.2065G>A
c.5729G>A (p.Arg1910His)
c.2918G>A (p.Arg973His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272876G>ACA7308575CCDC88Cc.5836C>T (p.Arg1946Cys)
c.1270C>T (p.Arg424Cys)
c.2064C>T
c.5728C>T (p.Arg1910Cys)
c.2917C>T (p.Arg973Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272876G>CCA390608841CCDC88Cc.5836C>G (p.Arg1946Gly)
c.1270C>G (p.Arg424Gly)
c.2064C>G
c.5728C>G (p.Arg1910Gly)
c.2917C>G (p.Arg973Gly)
14g.91272876G=CA2154900672CCDC88Cc.5836C= (p.Arg1946=)
c.1270C= (p.Arg424=)
c.2064C=
c.5728C= (p.Arg1910=)
c.2917C= (p.Arg973=)
14g.91272876G>TCA390608842CCDC88Cc.5836C>A (p.Arg1946Ser)
c.1270C>A (p.Arg424Ser)
c.2064C>A
c.5728C>A (p.Arg1910Ser)
c.2917C>A (p.Arg973Ser)
 gnomAD v4
14g.91272877T>ACA487828635CCDC88Cc.5835A>T (p.Pro1945=)
c.1269A>T (p.Pro423=)
c.2063A>T
c.5727A>T (p.Pro1909=)
c.2916A>T (p.Pro972=)
14g.91272877T>CCA7308576CCDC88Cc.5835A>G (p.Pro1945=)
c.1269A>G (p.Pro423=)
c.2063A>G
c.5727A>G (p.Pro1909=)
c.2916A>G (p.Pro972=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272877T>GCA487828636CCDC88Cc.5835A>C (p.Pro1945=)
c.1269A>C (p.Pro423=)
c.2063A>C
c.5727A>C (p.Pro1909=)
c.2916A>C (p.Pro972=)
14g.91272877T=CA2154900687CCDC88Cc.5835A= (p.Pro1945=)
c.1269A= (p.Pro423=)
c.2063A=
c.5727A= (p.Pro1909=)
c.2916A= (p.Pro972=)
14g.91272878G>ACA390608843CCDC88Cc.5834C>T (p.Pro1945Leu)
c.1268C>T (p.Pro423Leu)
c.2062C>T
c.5726C>T (p.Pro1909Leu)
c.2915C>T (p.Pro972Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91272878G>CCA390608845CCDC88Cc.5834C>G (p.Pro1945Arg)
c.1268C>G (p.Pro423Arg)
c.2062C>G
c.5726C>G (p.Pro1909Arg)
c.2915C>G (p.Pro972Arg)
14g.91272878G=CA2154900694CCDC88Cc.5834C= (p.Pro1945=)
c.1268C= (p.Pro423=)
c.2062C=
c.5726C= (p.Pro1909=)
c.2915C= (p.Pro972=)
14g.91272878G>TCA390608844CCDC88Cc.5834C>A (p.Pro1945Gln)
c.1268C>A (p.Pro423Gln)
c.2062C>A
c.5726C>A (p.Pro1909Gln)
c.2915C>A (p.Pro972Gln)
 gnomAD v4
14g.91272882delCA645594358CCDC88Cc.5834del (p.Pro1945HisfsTer?)
c.1268del (p.Pro423HisfsTer?)
c.2062del
c.5726del (p.Pro1909HisfsTer?)
c.2915del (p.Pro972HisfsTer?)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
14g.91272879G>ACA390608846CCDC88Cc.5833C>T (p.Pro1945Ser)
c.1267C>T (p.Pro423Ser)
c.2061C>T
c.5725C>T (p.Pro1909Ser)
c.2914C>T (p.Pro972Ser)
 gnomAD v4
14g.91272879G>CCA390608847CCDC88Cc.5833C>G (p.Pro1945Ala)
c.1267C>G (p.Pro423Ala)
c.2061C>G
c.5725C>G (p.Pro1909Ala)
c.2914C>G (p.Pro972Ala)
14g.91272879G>TCA390608848CCDC88Cc.5833C>A (p.Pro1945Thr)
c.1267C>A (p.Pro423Thr)
c.2061C>A
c.5725C>A (p.Pro1909Thr)
c.2914C>A (p.Pro972Thr)
 gnomAD v4

Number of alleles fetched