Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91297282G>ACA7309167CCDC88Cc.3966+23C>T (n.3966+23C>T)
c.3858+23C>T (n.3858+23C>T)
n.4094+23C>T
c.1047+23C>T (n.1047+23C>T)
n.4092+23C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297282G=CA2154888452CCDC88Cc.3966+23C= (n.3966+23C=)
c.3858+23C= (n.3858+23C=)
n.4094+23C=
c.1047+23C= (n.1047+23C=)
n.4092+23C=
14g.91297283G>CCA2626129332CCDC88Cc.3966+22C>G (n.3966+22C>G)
c.3858+22C>G (n.3858+22C>G)
n.4094+22C>G
c.1047+22C>G (n.1047+22C>G)
n.4092+22C>G
 gnomAD v4
14g.91297283G>TCA2626129333CCDC88Cc.3966+22C>A (n.3966+22C>A)
c.3858+22C>A (n.3858+22C>A)
n.4094+22C>A
c.1047+22C>A (n.1047+22C>A)
n.4092+22C>A
 gnomAD v4
14g.91297283_91297286delinsGCTCCA2154888455CCDC88Cc.3966+19_3966+22delinsGAGC (n.3966+19_3966+22delinsGAGC)
c.3858+19_3858+22delinsGAGC (n.3858+19_3858+22delinsGAGC)
n.4094+19_4094+22delinsGAGC
c.1047+19_1047+22delinsGAGC (n.1047+19_1047+22delinsGAGC)
n.4092+19_4092+22delinsGAGC
14g.91297284C>ACA709871227CCDC88Cc.3966+21G>T (n.3966+21G>T)
c.3858+21G>T (n.3858+21G>T)
n.4094+21G>T
c.1047+21G>T (n.1047+21G>T)
n.4092+21G>T
 dbSNP gnomAD v3 gnomAD v4
14g.91297284C=CA2154888459CCDC88Cc.3966+21G= (n.3966+21G=)
c.3858+21G= (n.3858+21G=)
n.4094+21G=
c.1047+21G= (n.1047+21G=)
n.4092+21G=
14g.91297284C>GCA7309168CCDC88Cc.3966+21G>C (n.3966+21G>C)
c.3858+21G>C (n.3858+21G>C)
n.4094+21G>C
c.1047+21G>C (n.1047+21G>C)
n.4092+21G>C
 dbSNP ExAC gnomAD v2
14g.91297285_91297287delCA2154888458CCDC88Cc.3966+19_3966+21del (n.3966+19_3966+21del)
c.3858+19_3858+21del (n.3858+19_3858+21del)
n.4094+19_4094+21del
c.1047+19_1047+21del (n.1047+19_1047+21del)
n.4092+19_4092+21del
 dbSNP gnomAD v4
14g.91297285T>ACA2626129334CCDC88Cc.3966+20A>T (n.3966+20A>T)
c.3858+20A>T (n.3858+20A>T)
n.4094+20A>T
c.1047+20A>T (n.1047+20A>T)
n.4092+20A>T
 gnomAD v4
14g.91297286C=CA2154888464CCDC88Cc.3966+19G= (n.3966+19G=)
c.3858+19G= (n.3858+19G=)
n.4094+19G=
c.1047+19G= (n.1047+19G=)
n.4092+19G=
14g.91297286C>TCA7309169CCDC88Cc.3966+19G>A (n.3966+19G>A)
c.3858+19G>A (n.3858+19G>A)
n.4094+19G>A
c.1047+19G>A (n.1047+19G>A)
n.4092+19G>A
 dbSNP ExAC
14g.91297289delCA2626129335CCDC88Cc.3966+19del (n.3966+19del)
c.3858+19del (n.3858+19del)
n.4094+19del
c.1047+19del (n.1047+19del)
n.4092+19del
 gnomAD v4
14g.91297287C>TCA2575603295CCDC88Cc.3966+18G>A (n.3966+18G>A)
c.3858+18G>A (n.3858+18G>A)
n.4094+18G>A
c.1047+18G>A (n.1047+18G>A)
n.4092+18G>A
 gnomAD v4
14g.91297290T>GCA2626129336CCDC88Cc.3966+15A>C (n.3966+15A>C)
c.3858+15A>C (n.3858+15A>C)
n.4094+15A>C
c.1047+15A>C (n.1047+15A>C)
n.4092+15A>C
 gnomAD v4
14g.91297291G>ACA709871239CCDC88Cc.3966+14C>T (n.3966+14C>T)
c.3858+14C>T (n.3858+14C>T)
n.4094+14C>T
c.1047+14C>T (n.1047+14C>T)
n.4092+14C>T
 ClinVar dbSNP gnomAD v4
14g.91297291G>CCA2739278866CCDC88Cc.3966+14C>G (n.3966+14C>G)
c.3858+14C>G (n.3858+14C>G)
n.4094+14C>G
c.1047+14C>G (n.1047+14C>G)
n.4092+14C>G
 ClinVar
14g.91297291G=CA2154888466CCDC88Cc.3966+14C= (n.3966+14C=)
c.3858+14C= (n.3858+14C=)
n.4094+14C=
c.1047+14C= (n.1047+14C=)
n.4092+14C=
14g.91297292G>ACA2626129337CCDC88Cc.3966+13C>T (n.3966+13C>T)
c.3858+13C>T (n.3858+13C>T)
n.4094+13C>T
c.1047+13C>T (n.1047+13C>T)
n.4092+13C>T
 gnomAD v4
14g.91297293C>ACA2154888469CCDC88Cc.3966+12G>T (n.3966+12G>T)
c.3858+12G>T (n.3858+12G>T)
n.4094+12G>T
c.1047+12G>T (n.1047+12G>T)
n.4092+12G>T
 dbSNP
14g.91297293C=CA1630856134CCDC88Cc.3966+12G= (n.3966+12G=)
c.3858+12G= (n.3858+12G=)
n.4094+12G=
c.1047+12G= (n.1047+12G=)
n.4092+12G=
14g.91297293C>GCA2581187894CCDC88Cc.3966+12G>C (n.3966+12G>C)
c.3858+12G>C (n.3858+12G>C)
n.4094+12G>C
c.1047+12G>C (n.1047+12G>C)
n.4092+12G>C
14g.91297293C>TCA171529CCDC88Cc.3966+12G>A (n.3966+12G>A)
c.3858+12G>A (n.3858+12G>A)
n.4094+12G>A
c.1047+12G>A (n.1047+12G>A)
n.4092+12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297294G>ACA7309170CCDC88Cc.3966+11C>T (n.3966+11C>T)
c.3858+11C>T (n.3858+11C>T)
n.4094+11C>T
c.1047+11C>T (n.1047+11C>T)
n.4092+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297294G=CA2154888473CCDC88Cc.3966+11C= (n.3966+11C=)
c.3858+11C= (n.3858+11C=)
n.4094+11C=
c.1047+11C= (n.1047+11C=)
n.4092+11C=
14g.91297294G>TCA2626129338CCDC88Cc.3966+11C>A (n.3966+11C>A)
c.3858+11C>A (n.3858+11C>A)
n.4094+11C>A
c.1047+11C>A (n.1047+11C>A)
n.4092+11C>A
 gnomAD v4
14g.91297295C>ACA2626129339CCDC88Cc.3966+10G>T (n.3966+10G>T)
c.3858+10G>T (n.3858+10G>T)
n.4094+10G>T
c.1047+10G>T (n.1047+10G>T)
n.4092+10G>T
 gnomAD v4
14g.91297295C=CA2154888474CCDC88Cc.3966+10G= (n.3966+10G=)
c.3858+10G= (n.3858+10G=)
n.4094+10G=
c.1047+10G= (n.1047+10G=)
n.4092+10G=
14g.91297295C>GCA615727386CCDC88Cc.3966+10G>C (n.3966+10G>C)
c.3858+10G>C (n.3858+10G>C)
n.4094+10G>C
c.1047+10G>C (n.1047+10G>C)
n.4092+10G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91297297G>ACA2575603296CCDC88Cc.3966+8C>T (n.3966+8C>T)
c.3858+8C>T (n.3858+8C>T)
n.4094+8C>T
c.1047+8C>T (n.1047+8C>T)
n.4092+8C>T
14g.91297297G>CCA7309171CCDC88Cc.3966+8C>G (n.3966+8C>G)
c.3858+8C>G (n.3858+8C>G)
n.4094+8C>G
c.1047+8C>G (n.1047+8C>G)
n.4092+8C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297297G=CA2154888477CCDC88Cc.3966+8C= (n.3966+8C=)
c.3858+8C= (n.3858+8C=)
n.4094+8C=
c.1047+8C= (n.1047+8C=)
n.4092+8C=
14g.91297297G>TCA709871254CCDC88Cc.3966+8C>A (n.3966+8C>A)
c.3858+8C>A (n.3858+8C>A)
n.4094+8C>A
c.1047+8C>A (n.1047+8C>A)
n.4092+8C>A
 dbSNP
14g.91297298G>ACA7309172CCDC88Cc.3966+7C>T (n.3966+7C>T)
c.3858+7C>T (n.3858+7C>T)
n.4094+7C>T
c.1047+7C>T (n.1047+7C>T)
n.4092+7C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297298G>CCA2697554119CCDC88Cc.3966+7C>G (n.3966+7C>G)
c.3858+7C>G (n.3858+7C>G)
n.4094+7C>G
c.1047+7C>G (n.1047+7C>G)
n.4092+7C>G
 ClinVar
14g.91297298G=CA2154888479CCDC88Cc.3966+7C= (n.3966+7C=)
c.3858+7C= (n.3858+7C=)
n.4094+7C=
c.1047+7C= (n.1047+7C=)
n.4092+7C=
14g.91297298G>TCA2626129340CCDC88Cc.3966+7C>A (n.3966+7C>A)
c.3858+7C>A (n.3858+7C>A)
n.4094+7C>A
c.1047+7C>A (n.1047+7C>A)
n.4092+7C>A
 gnomAD v4
14g.91297299C>TCA2626129341CCDC88Cc.3966+6G>A (n.3966+6G>A)
c.3858+6G>A (n.3858+6G>A)
n.4094+6G>A
c.1047+6G>A (n.1047+6G>A)
n.4092+6G>A
 gnomAD v4
14g.91297300C>ACA2626129342CCDC88Cc.3966+5G>T (n.3966+5G>T)
c.3858+5G>T (n.3858+5G>T)
n.4094+5G>T
c.1047+5G>T (n.1047+5G>T)
n.4092+5G>T
 gnomAD v4
14g.91297300C=CA2154888481CCDC88Cc.3966+5G= (n.3966+5G=)
c.3858+5G= (n.3858+5G=)
n.4094+5G=
c.1047+5G= (n.1047+5G=)
n.4092+5G=
14g.91297300C>TCA2154888482CCDC88Cc.3966+5G>A (n.3966+5G>A)
c.3858+5G>A (n.3858+5G>A)
n.4094+5G>A
c.1047+5G>A (n.1047+5G>A)
n.4092+5G>A
 dbSNP
14g.91297301T>GCA2626129343CCDC88Cc.3966+4A>C (n.3966+4A>C)
c.3858+4A>C (n.3858+4A>C)
n.4094+4A>C
c.1047+4A>C (n.1047+4A>C)
n.4092+4A>C
 gnomAD v4
14g.91297302C>ACA2626129344CCDC88Cc.3966+3G>T (n.3966+3G>T)
c.3858+3G>T (n.3858+3G>T)
n.4094+3G>T
c.1047+3G>T (n.1047+3G>T)
n.4092+3G>T
 gnomAD v4
14g.91297302C>TCA2626129345CCDC88Cc.3966+3G>A (n.3966+3G>A)
c.3858+3G>A (n.3858+3G>A)
n.4094+3G>A
c.1047+3G>A (n.1047+3G>A)
n.4092+3G>A
 gnomAD v4
14g.91297303A>CCA390617932CCDC88Cc.3966+2T>G (n.3966+2T>G)
c.3858+2T>G (n.3858+2T>G)
n.4094+2T>G
c.1047+2T>G (n.1047+2T>G)
n.4092+2T>G
14g.91297303A>GCA390617935CCDC88Cc.3966+2T>C (n.3966+2T>C)
c.3858+2T>C (n.3858+2T>C)
n.4094+2T>C
c.1047+2T>C (n.1047+2T>C)
n.4092+2T>C
14g.91297303A>TCA390617934CCDC88Cc.3966+2T>A (n.3966+2T>A)
c.3858+2T>A (n.3858+2T>A)
n.4094+2T>A
c.1047+2T>A (n.1047+2T>A)
n.4092+2T>A
14g.91297304C>ACA390617936CCDC88Cc.3966+1G>T (n.3966+1G>T)
c.3858+1G>T (n.3858+1G>T)
n.4094+1G>T
c.1047+1G>T (n.1047+1G>T)
n.4092+1G>T
14g.91297304C>GCA390617937CCDC88Cc.3966+1G>C (n.3966+1G>C)
c.3858+1G>C (n.3858+1G>C)
n.4094+1G>C
c.1047+1G>C (n.1047+1G>C)
n.4092+1G>C
14g.91297304C>TCA390617938CCDC88Cc.3966+1G>A (n.3966+1G>A)
c.3858+1G>A (n.3858+1G>A)
n.4094+1G>A
c.1047+1G>A (n.1047+1G>A)
n.4092+1G>A
14g.91297305C>ACA390617941CCDC88Cc.3966G>T (p.Glu1322Asp)
c.3858G>T (p.Glu1286Asp)
n.4094G>T
c.1047G>T (p.Glu349Asp)
n.4092G>T
14g.91297305C=CA2154888486CCDC88Cc.3966G= (p.Glu1322=)
c.3858G= (p.Glu1286=)
n.4094G=
c.1047G= (p.Glu349=)
n.4092G=
14g.91297305C>GCA390617943CCDC88Cc.3966G>C (p.Glu1322Asp)
c.3858G>C (p.Glu1286Asp)
n.4094G>C
c.1047G>C (p.Glu349Asp)
n.4092G>C
14g.91297305C>TCA487546684CCDC88Cc.3966G>A (p.Glu1322=)
c.3858G>A (p.Glu1286=)
n.4094G>A
c.1047G>A (p.Glu349=)
n.4092G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91297306T>ACA390617946CCDC88Cc.3965A>T (p.Glu1322Val)
c.3857A>T (p.Glu1286Val)
n.4093A>T
c.1046A>T (p.Glu349Val)
n.4091A>T
 dbSNP gnomAD v3 gnomAD v4
14g.91297306T>CCA390617947CCDC88Cc.3965A>G (p.Glu1322Gly)
c.3857A>G (p.Glu1286Gly)
n.4093A>G
c.1046A>G (p.Glu349Gly)
n.4091A>G
14g.91297306T>GCA390617949CCDC88Cc.3965A>C (p.Glu1322Ala)
c.3857A>C (p.Glu1286Ala)
n.4093A>C
c.1046A>C (p.Glu349Ala)
n.4091A>C
14g.91297306T=CA2154888491CCDC88Cc.3965A= (p.Glu1322=)
c.3857A= (p.Glu1286=)
n.4093A=
c.1046A= (p.Glu349=)
n.4091A=
14g.91297307C>ACA390617954CCDC88Cc.3964G>T (p.Glu1322Ter)
c.3856G>T (p.Glu1286Ter)
n.4092G>T
c.1045G>T (p.Glu349Ter)
n.4090G>T
14g.91297307C>GCA390617957CCDC88Cc.3964G>C (p.Glu1322Gln)
c.3856G>C (p.Glu1286Gln)
n.4092G>C
c.1045G>C (p.Glu349Gln)
n.4090G>C
14g.91297307C>TCA390617958CCDC88Cc.3964G>A (p.Glu1322Lys)
c.3856G>A (p.Glu1286Lys)
n.4092G>A
c.1045G>A (p.Glu349Lys)
n.4090G>A
14g.91297308A>CCA390617963CCDC88Cc.3963T>G (p.Cys1321Trp)
c.3855T>G (p.Cys1285Trp)
n.4091T>G
c.1044T>G (p.Cys348Trp)
n.4089T>G
14g.91297308A>GCA487546701CCDC88Cc.3963T>C (p.Cys1321=)
c.3855T>C (p.Cys1285=)
n.4091T>C
c.1044T>C (p.Cys348=)
n.4089T>C
14g.91297308A>TCA390617965CCDC88Cc.3963T>A (p.Cys1321Ter)
c.3855T>A (p.Cys1285Ter)
n.4091T>A
c.1044T>A (p.Cys348Ter)
n.4089T>A
14g.91297309C>ACA390617970CCDC88Cc.3962G>T (p.Cys1321Phe)
c.3854G>T (p.Cys1285Phe)
n.4090G>T
c.1043G>T (p.Cys348Phe)
n.4088G>T
14g.91297309C=CA2154888495CCDC88Cc.3962G= (p.Cys1321=)
c.3854G= (p.Cys1285=)
n.4090G=
c.1043G= (p.Cys348=)
n.4088G=
14g.91297309C>GCA390617973CCDC88Cc.3962G>C (p.Cys1321Ser)
c.3854G>C (p.Cys1285Ser)
n.4090G>C
c.1043G>C (p.Cys348Ser)
n.4088G>C
14g.91297309C>TCA7309173CCDC88Cc.3962G>A (p.Cys1321Tyr)
c.3854G>A (p.Cys1285Tyr)
n.4090G>A
c.1043G>A (p.Cys348Tyr)
n.4088G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297310A>CCA390617975CCDC88Cc.3961T>G (p.Cys1321Gly)
c.3853T>G (p.Cys1285Gly)
n.4089T>G
c.1042T>G (p.Cys348Gly)
n.4087T>G
14g.91297310A>GCA390617976CCDC88Cc.3961T>C (p.Cys1321Arg)
c.3853T>C (p.Cys1285Arg)
n.4089T>C
c.1042T>C (p.Cys348Arg)
n.4087T>C
14g.91297310A>TCA390617978CCDC88Cc.3961T>A (p.Cys1321Ser)
c.3853T>A (p.Cys1285Ser)
n.4089T>A
c.1042T>A (p.Cys348Ser)
n.4087T>A
14g.91297311G>ACA487546716CCDC88Cc.3960C>T (p.His1320=)
c.3852C>T (p.His1284=)
n.4088C>T
c.1041C>T (p.His347=)
n.4086C>T
 dbSNP gnomAD v4
14g.91297311G>CCA390617980CCDC88Cc.3960C>G (p.His1320Gln)
c.3852C>G (p.His1284Gln)
n.4088C>G
c.1041C>G (p.His347Gln)
n.4086C>G
14g.91297311G>TCA390617982CCDC88Cc.3960C>A (p.His1320Gln)
c.3852C>A (p.His1284Gln)
n.4088C>A
c.1041C>A (p.His347Gln)
n.4086C>A
14g.91297312T>ACA390617984CCDC88Cc.3959A>T (p.His1320Leu)
c.3851A>T (p.His1284Leu)
n.4087A>T
c.1040A>T (p.His347Leu)
n.4085A>T
14g.91297312T>CCA390617986CCDC88Cc.3959A>G (p.His1320Arg)
c.3851A>G (p.His1284Arg)
n.4087A>G
c.1040A>G (p.His347Arg)
n.4085A>G
14g.91297312T>GCA390617987CCDC88Cc.3959A>C (p.His1320Pro)
c.3851A>C (p.His1284Pro)
n.4087A>C
c.1040A>C (p.His347Pro)
n.4085A>C
 COSMIC COSMIC
14g.91297313G>ACA390617988CCDC88Cc.3958C>T (p.His1320Tyr)
c.3850C>T (p.His1284Tyr)
n.4086C>T
c.1039C>T (p.His347Tyr)
n.4084C>T
14g.91297313G>CCA390617989CCDC88Cc.3958C>G (p.His1320Asp)
c.3850C>G (p.His1284Asp)
n.4086C>G
c.1039C>G (p.His347Asp)
n.4084C>G
 dbSNP gnomAD v3 gnomAD v4
14g.91297313G=CA2154888499CCDC88Cc.3958C= (p.His1320=)
c.3850C= (p.His1284=)
n.4086C=
c.1039C= (p.His347=)
n.4084C=
14g.91297313G>TCA390617990CCDC88Cc.3958C>A (p.His1320Asn)
c.3850C>A (p.His1284Asn)
n.4086C>A
c.1039C>A (p.His347Asn)
n.4084C>A
14g.91297314G>ACA487546757CCDC88Cc.3957C>T (p.Asn1319=)
c.3849C>T (p.Asn1283=)
n.4085C>T
c.1038C>T (p.Asn346=)
n.4083C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297314G>CCA390617994CCDC88Cc.3957C>G (p.Asn1319Lys)
c.3849C>G (p.Asn1283Lys)
n.4085C>G
c.1038C>G (p.Asn346Lys)
n.4083C>G
 dbSNP
14g.91297314G=CA2154888504CCDC88Cc.3957C= (p.Asn1319=)
c.3849C= (p.Asn1283=)
n.4085C=
c.1038C= (p.Asn346=)
n.4083C=
14g.91297314G>TCA390617992CCDC88Cc.3957C>A (p.Asn1319Lys)
c.3849C>A (p.Asn1283Lys)
n.4085C>A
c.1038C>A (p.Asn346Lys)
n.4083C>A
14g.91297315T>ACA390617997CCDC88Cc.3956A>T (p.Asn1319Ile)
c.3848A>T (p.Asn1283Ile)
n.4084A>T
c.1037A>T (p.Asn346Ile)
n.4082A>T
14g.91297315T>CCA390618001CCDC88Cc.3956A>G (p.Asn1319Ser)
c.3848A>G (p.Asn1283Ser)
n.4084A>G
c.1037A>G (p.Asn346Ser)
n.4082A>G
14g.91297315T>GCA390617999CCDC88Cc.3956A>C (p.Asn1319Thr)
c.3848A>C (p.Asn1283Thr)
n.4084A>C
c.1037A>C (p.Asn346Thr)
n.4082A>C
14g.91297315T=CA2154888508CCDC88Cc.3956A= (p.Asn1319=)
c.3848A= (p.Asn1283=)
n.4084A=
c.1037A= (p.Asn346=)
n.4082A=
14g.91297316T>ACA390618003CCDC88Cc.3955A>T (p.Asn1319Tyr)
c.3847A>T (p.Asn1283Tyr)
n.4083A>T
c.1036A>T (p.Asn346Tyr)
n.4081A>T
14g.91297316T>CCA390618004CCDC88Cc.3955A>G (p.Asn1319Asp)
c.3847A>G (p.Asn1283Asp)
n.4083A>G
c.1036A>G (p.Asn346Asp)
n.4081A>G
 gnomAD v4
14g.91297316T>GCA390618006CCDC88Cc.3955A>C (p.Asn1319His)
c.3847A>C (p.Asn1283His)
n.4083A>C
c.1036A>C (p.Asn346His)
n.4081A>C
14g.91297317_91297318dupCA2154888511CCDC88Cc.3954_3955dup (p.Asn1319ThrfsTer22)
c.3846_3847dup (p.Asn1283ThrfsTer22)
n.4082_4083dup
c.1035_1036dup (p.Asn346ThrfsTer22)
n.4080_4081dup
 dbSNP
14g.91297317G>ACA7309174CCDC88Cc.3954C>T (p.Asp1318=)
c.3846C>T (p.Asp1282=)
n.4082C>T
c.1035C>T (p.Asp345=)
n.4080C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297317G>CCA390618008CCDC88Cc.3954C>G (p.Asp1318Glu)
c.3846C>G (p.Asp1282Glu)
n.4082C>G
c.1035C>G (p.Asp345Glu)
n.4080C>G
14g.91297317G=CA2154888518CCDC88Cc.3954C= (p.Asp1318=)
c.3846C= (p.Asp1282=)
n.4082C=
c.1035C= (p.Asp345=)
n.4080C=
14g.91297317G>TCA390618011CCDC88Cc.3954C>A (p.Asp1318Glu)
c.3846C>A (p.Asp1282Glu)
n.4082C>A
c.1035C>A (p.Asp345Glu)
n.4080C>A
 gnomAD v4
14g.91297317_91297319delinsGTCCA2154888519CCDC88Cc.3952_3954delinsGAC (p.Asp1318=)
c.3844_3846delinsGAC (p.Asp1282=)
n.4080_4082delinsGAC
c.1033_1035delinsGAC (p.Asp345=)
n.4078_4080delinsGAC
14g.91297318T>ACA390618016CCDC88Cc.3953A>T (p.Asp1318Val)
c.3845A>T (p.Asp1282Val)
n.4081A>T
c.1034A>T (p.Asp345Val)
n.4079A>T
14g.91297318T>CCA390618018CCDC88Cc.3953A>G (p.Asp1318Gly)
c.3845A>G (p.Asp1282Gly)
n.4081A>G
c.1034A>G (p.Asp345Gly)
n.4079A>G
 dbSNP gnomAD v2
14g.91297318T>GCA390618020CCDC88Cc.3953A>C (p.Asp1318Ala)
c.3845A>C (p.Asp1282Ala)
n.4081A>C
c.1034A>C (p.Asp345Ala)
n.4079A>C
14g.91297318T=CA2154888524CCDC88Cc.3953A= (p.Asp1318=)
c.3845A= (p.Asp1282=)
n.4081A=
c.1034A= (p.Asp345=)
n.4079A=
14g.91297318_91297319delCA7309175CCDC88Cc.3952_3953del (p.Asp1318GlnfsTer4)
c.3844_3845del (p.Asp1282GlnfsTer4)
n.4080_4081del
c.1033_1034del (p.Asp345GlnfsTer4)
n.4078_4079del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297319C>ACA390618027CCDC88Cc.3952G>T (p.Asp1318Tyr)
c.3844G>T (p.Asp1282Tyr)
n.4080G>T
c.1033G>T (p.Asp345Tyr)
n.4078G>T
14g.91297319C>GCA390618025CCDC88Cc.3952G>C (p.Asp1318His)
c.3844G>C (p.Asp1282His)
n.4080G>C
c.1033G>C (p.Asp345His)
n.4078G>C
 gnomAD v4
14g.91297319C>TCA390618023CCDC88Cc.3952G>A (p.Asp1318Asn)
c.3844G>A (p.Asp1282Asn)
n.4080G>A
c.1033G>A (p.Asp345Asn)
n.4078G>A
14g.91297320C>ACA487546809CCDC88Cc.3951G>T (p.Leu1317=)
c.3843G>T (p.Leu1281=)
n.4079G>T
c.1032G>T (p.Leu344=)
n.4077G>T
14g.91297320C=CA2154888525CCDC88Cc.3951G= (p.Leu1317=)
c.3843G= (p.Leu1281=)
n.4079G=
c.1032G= (p.Leu344=)
n.4077G=
14g.91297320C>GCA7309177CCDC88Cc.3951G>C (p.Leu1317=)
c.3843G>C (p.Leu1281=)
n.4079G>C
c.1032G>C (p.Leu344=)
n.4077G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297320C>TCA7309176CCDC88Cc.3951G>A (p.Leu1317=)
c.3843G>A (p.Leu1281=)
n.4079G>A
c.1032G>A (p.Leu344=)
n.4077G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297321A>CCA390618032CCDC88Cc.3950T>G (p.Leu1317Arg)
c.3842T>G (p.Leu1281Arg)
n.4078T>G
c.1031T>G (p.Leu344Arg)
n.4076T>G
14g.91297321A>GCA390618033CCDC88Cc.3950T>C (p.Leu1317Pro)
c.3842T>C (p.Leu1281Pro)
n.4078T>C
c.1031T>C (p.Leu344Pro)
n.4076T>C
14g.91297321A>TCA390618036CCDC88Cc.3950T>A (p.Leu1317Gln)
c.3842T>A (p.Leu1281Gln)
n.4078T>A
c.1031T>A (p.Leu344Gln)
n.4076T>A
14g.91297322G>ACA487546820CCDC88Cc.3949C>T (p.Leu1317=)
c.3841C>T (p.Leu1281=)
n.4077C>T
c.1030C>T (p.Leu344=)
n.4075C>T
14g.91297322G>CCA390618038CCDC88Cc.3949C>G (p.Leu1317Val)
c.3841C>G (p.Leu1281Val)
n.4077C>G
c.1030C>G (p.Leu344Val)
n.4075C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297322G=CA2154888529CCDC88Cc.3949C= (p.Leu1317=)
c.3841C= (p.Leu1281=)
n.4077C=
c.1030C= (p.Leu344=)
n.4075C=
14g.91297322G>TCA390618040CCDC88Cc.3949C>A (p.Leu1317Met)
c.3841C>A (p.Leu1281Met)
n.4077C>A
c.1030C>A (p.Leu344Met)
n.4075C>A
 dbSNP
14g.91297323C>ACA390618043CCDC88Cc.3948G>T (p.Lys1316Asn)
c.3840G>T (p.Lys1280Asn)
n.4076G>T
c.1029G>T (p.Lys343Asn)
n.4074G>T
14g.91297323C=CA2154888532CCDC88Cc.3948G= (p.Lys1316=)
c.3840G= (p.Lys1280=)
n.4076G=
c.1029G= (p.Lys343=)
n.4074G=
14g.91297323C>GCA390618044CCDC88Cc.3948G>C (p.Lys1316Asn)
c.3840G>C (p.Lys1280Asn)
n.4076G>C
c.1029G>C (p.Lys343Asn)
n.4074G>C
 dbSNP gnomAD v2 gnomAD v4
14g.91297323C>TCA487546830CCDC88Cc.3948G>A (p.Lys1316=)
c.3840G>A (p.Lys1280=)
n.4076G>A
c.1029G>A (p.Lys343=)
n.4074G>A
14g.91297324T>ACA390618046CCDC88Cc.3947A>T (p.Lys1316Met)
c.3839A>T (p.Lys1280Met)
n.4075A>T
c.1028A>T (p.Lys343Met)
n.4073A>T
 dbSNP
14g.91297324T>CCA390618048CCDC88Cc.3947A>G (p.Lys1316Arg)
c.3839A>G (p.Lys1280Arg)
n.4075A>G
c.1028A>G (p.Lys343Arg)
n.4073A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91297324T>GCA390618050CCDC88Cc.3947A>C (p.Lys1316Thr)
c.3839A>C (p.Lys1280Thr)
n.4075A>C
c.1028A>C (p.Lys343Thr)
n.4073A>C
14g.91297324T=CA2154888535CCDC88Cc.3947A= (p.Lys1316=)
c.3839A= (p.Lys1280=)
n.4075A=
c.1028A= (p.Lys343=)
n.4073A=
14g.91297325T>ACA390618055CCDC88Cc.3946A>T (p.Lys1316Ter)
c.3838A>T (p.Lys1280Ter)
n.4074A>T
c.1027A>T (p.Lys343Ter)
n.4072A>T
14g.91297325T>CCA390618056CCDC88Cc.3946A>G (p.Lys1316Glu)
c.3838A>G (p.Lys1280Glu)
n.4074A>G
c.1027A>G (p.Lys343Glu)
n.4072A>G
14g.91297325T>GCA390618053CCDC88Cc.3946A>C (p.Lys1316Gln)
c.3838A>C (p.Lys1280Gln)
n.4074A>C
c.1027A>C (p.Lys343Gln)
n.4072A>C
14g.91297326G>ACA487546849CCDC88Cc.3945C>T (p.Thr1315=)
c.3837C>T (p.Thr1279=)
n.4073C>T
c.1026C>T (p.Thr342=)
n.4071C>T
 ClinVar
14g.91297326G>CCA487546851CCDC88Cc.3945C>G (p.Thr1315=)
c.3837C>G (p.Thr1279=)
n.4073C>G
c.1026C>G (p.Thr342=)
n.4071C>G
14g.91297326G>TCA487546852CCDC88Cc.3945C>A (p.Thr1315=)
c.3837C>A (p.Thr1279=)
n.4073C>A
c.1026C>A (p.Thr342=)
n.4071C>A
14g.91297327G>ACA390618059CCDC88Cc.3944C>T (p.Thr1315Ile)
c.3836C>T (p.Thr1279Ile)
n.4072C>T
c.1025C>T (p.Thr342Ile)
n.4070C>T
14g.91297327G>CCA390618060CCDC88Cc.3944C>G (p.Thr1315Ser)
c.3836C>G (p.Thr1279Ser)
n.4072C>G
c.1025C>G (p.Thr342Ser)
n.4070C>G
14g.91297327G>TCA390618062CCDC88Cc.3944C>A (p.Thr1315Asn)
c.3836C>A (p.Thr1279Asn)
n.4072C>A
c.1025C>A (p.Thr342Asn)
n.4070C>A
14g.91297328T>ACA390618065CCDC88Cc.3943A>T (p.Thr1315Ser)
c.3835A>T (p.Thr1279Ser)
n.4071A>T
c.1024A>T (p.Thr342Ser)
n.4069A>T
14g.91297328T>CCA390618066CCDC88Cc.3943A>G (p.Thr1315Ala)
c.3835A>G (p.Thr1279Ala)
n.4071A>G
c.1024A>G (p.Thr342Ala)
n.4069A>G
14g.91297328T>GCA390618068CCDC88Cc.3943A>C (p.Thr1315Pro)
c.3835A>C (p.Thr1279Pro)
n.4071A>C
c.1024A>C (p.Thr342Pro)
n.4069A>C
14g.91297329C>ACA487546867CCDC88Cc.3942G>T (p.Leu1314=)
c.3834G>T (p.Leu1278=)
n.4070G>T
c.1023G>T (p.Leu341=)
n.4068G>T
 gnomAD v4
14g.91297329C>GCA487546869CCDC88Cc.3942G>C (p.Leu1314=)
c.3834G>C (p.Leu1278=)
n.4070G>C
c.1023G>C (p.Leu341=)
n.4068G>C
14g.91297329C>TCA487546865CCDC88Cc.3942G>A (p.Leu1314=)
c.3834G>A (p.Leu1278=)
n.4070G>A
c.1023G>A (p.Leu341=)
n.4068G>A
 gnomAD v4
14g.91297330A>CCA390618075CCDC88Cc.3941T>G (p.Leu1314Arg)
c.3833T>G (p.Leu1278Arg)
n.4069T>G
c.1022T>G (p.Leu341Arg)
n.4067T>G
14g.91297330A>GCA390618071CCDC88Cc.3941T>C (p.Leu1314Pro)
c.3833T>C (p.Leu1278Pro)
n.4069T>C
c.1022T>C (p.Leu341Pro)
n.4067T>C
14g.91297330A>TCA390618073CCDC88Cc.3941T>A (p.Leu1314Gln)
c.3833T>A (p.Leu1278Gln)
n.4069T>A
c.1022T>A (p.Leu341Gln)
n.4067T>A
14g.91297331G>ACA487546877CCDC88Cc.3940C>T (p.Leu1314=)
c.3832C>T (p.Leu1278=)
n.4068C>T
c.1021C>T (p.Leu341=)
n.4066C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91297331G>CCA390618077CCDC88Cc.3940C>G (p.Leu1314Val)
c.3832C>G (p.Leu1278Val)
n.4068C>G
c.1021C>G (p.Leu341Val)
n.4066C>G
 gnomAD v4
14g.91297331G=CA2154888539CCDC88Cc.3940C= (p.Leu1314=)
c.3832C= (p.Leu1278=)
n.4068C=
c.1021C= (p.Leu341=)
n.4066C=
14g.91297331G>TCA390618079CCDC88Cc.3940C>A (p.Leu1314Met)
c.3832C>A (p.Leu1278Met)
n.4068C>A
c.1021C>A (p.Leu341Met)
n.4066C>A
14g.91297332C>ACA487546880CCDC88Cc.3939G>T (p.Ser1313=)
c.3831G>T (p.Ser1277=)
n.4067G>T
c.1020G>T (p.Ser340=)
n.4065G>T
 gnomAD v4
14g.91297332C=CA2154888541CCDC88Cc.3939G= (p.Ser1313=)
c.3831G= (p.Ser1277=)
n.4067G=
c.1020G= (p.Ser340=)
n.4065G=
14g.91297332C>GCA487546883CCDC88Cc.3939G>C (p.Ser1313=)
c.3831G>C (p.Ser1277=)
n.4067G>C
c.1020G>C (p.Ser340=)
n.4065G>C
14g.91297332C>TCA487546885CCDC88Cc.3939G>A (p.Ser1313=)
c.3831G>A (p.Ser1277=)
n.4067G>A
c.1020G>A (p.Ser340=)
n.4065G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297333G>ACA390618082CCDC88Cc.3938C>T (p.Ser1313Leu)
c.3830C>T (p.Ser1277Leu)
n.4066C>T
c.1019C>T (p.Ser340Leu)
n.4064C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297333G>CCA390618083CCDC88Cc.3938C>G (p.Ser1313Trp)
c.3830C>G (p.Ser1277Trp)
n.4066C>G
c.1019C>G (p.Ser340Trp)
n.4064C>G
14g.91297333G=CA2154888543CCDC88Cc.3938C= (p.Ser1313=)
c.3830C= (p.Ser1277=)
n.4066C=
c.1019C= (p.Ser340=)
n.4064C=
14g.91297333G>TCA390618084CCDC88Cc.3938C>A (p.Ser1313Ter)
c.3830C>A (p.Ser1277Ter)
n.4066C>A
c.1019C>A (p.Ser340Ter)
n.4064C>A
14g.91297334A=CA2154888547CCDC88Cc.3937T= (p.Ser1313=)
c.3829T= (p.Ser1277=)
n.4065T=
c.1018T= (p.Ser340=)
n.4063T=
14g.91297334A>CCA390618085CCDC88Cc.3937T>G (p.Ser1313Ala)
c.3829T>G (p.Ser1277Ala)
n.4065T>G
c.1018T>G (p.Ser340Ala)
n.4063T>G
 dbSNP gnomAD v2 gnomAD v4
14g.91297334A>GCA390618087CCDC88Cc.3937T>C (p.Ser1313Pro)
c.3829T>C (p.Ser1277Pro)
n.4065T>C
c.1018T>C (p.Ser340Pro)
n.4063T>C
14g.91297334A>TCA390618086CCDC88Cc.3937T>A (p.Ser1313Thr)
c.3829T>A (p.Ser1277Thr)
n.4065T>A
c.1018T>A (p.Ser340Thr)
n.4063T>A
14g.91297334dupCA2626129361CCDC88Cc.3937dup (p.Ser1313PhefsTer10)
c.3829dup (p.Ser1277PhefsTer10)
n.4065dup
c.1018dup (p.Ser340PhefsTer10)
n.4063dup
 gnomAD v4
14g.91297335G>ACA487546905CCDC88Cc.3936C>T (p.Ile1312=)
c.3828C>T (p.Ile1276=)
n.4064C>T
c.1017C>T (p.Ile339=)
n.4062C>T
14g.91297335G>CCA390618088CCDC88Cc.3936C>G (p.Ile1312Met)
c.3828C>G (p.Ile1276Met)
n.4064C>G
c.1017C>G (p.Ile339Met)
n.4062C>G
14g.91297335G>TCA487546910CCDC88Cc.3936C>A (p.Ile1312=)
c.3828C>A (p.Ile1276=)
n.4064C>A
c.1017C>A (p.Ile339=)
n.4062C>A
14g.91297336A>CCA390618089CCDC88Cc.3935T>G (p.Ile1312Ser)
c.3827T>G (p.Ile1276Ser)
n.4063T>G
c.1016T>G (p.Ile339Ser)
n.4061T>G
14g.91297336A>GCA390618090CCDC88Cc.3935T>C (p.Ile1312Thr)
c.3827T>C (p.Ile1276Thr)
n.4063T>C
c.1016T>C (p.Ile339Thr)
n.4061T>C
14g.91297336A>TCA390618091CCDC88Cc.3935T>A (p.Ile1312Asn)
c.3827T>A (p.Ile1276Asn)
n.4063T>A
c.1016T>A (p.Ile339Asn)
n.4061T>A
14g.91297337T>ACA390618092CCDC88Cc.3934A>T (p.Ile1312Phe)
c.3826A>T (p.Ile1276Phe)
n.4062A>T
c.1015A>T (p.Ile339Phe)
n.4060A>T
14g.91297337T>CCA7309178CCDC88Cc.3934A>G (p.Ile1312Val)
c.3826A>G (p.Ile1276Val)
n.4062A>G
c.1015A>G (p.Ile339Val)
n.4060A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297337T>GCA390618093CCDC88Cc.3934A>C (p.Ile1312Leu)
c.3826A>C (p.Ile1276Leu)
n.4062A>C
c.1015A>C (p.Ile339Leu)
n.4060A>C
 dbSNP gnomAD v2 gnomAD v4
14g.91297337T=CA2154888550CCDC88Cc.3934A= (p.Ile1312=)
c.3826A= (p.Ile1276=)
n.4062A=
c.1015A= (p.Ile339=)
n.4060A=
14g.91297338G>ACA487546921CCDC88Cc.3933C>T (p.Asp1311=)
c.3825C>T (p.Asp1275=)
n.4061C>T
c.1014C>T (p.Asp338=)
n.4059C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297338G>CCA390618094CCDC88Cc.3933C>G (p.Asp1311Glu)
c.3825C>G (p.Asp1275Glu)
n.4061C>G
c.1014C>G (p.Asp338Glu)
n.4059C>G
14g.91297338G=CA2154888552CCDC88Cc.3933C= (p.Asp1311=)
c.3825C= (p.Asp1275=)
n.4061C=
c.1014C= (p.Asp338=)
n.4059C=
14g.91297338G>TCA390618095CCDC88Cc.3933C>A (p.Asp1311Glu)
c.3825C>A (p.Asp1275Glu)
n.4061C>A
c.1014C>A (p.Asp338Glu)
n.4059C>A
14g.91297339T>ACA390618096CCDC88Cc.3932A>T (p.Asp1311Val)
c.3824A>T (p.Asp1275Val)
n.4060A>T
c.1013A>T (p.Asp338Val)
n.4058A>T
14g.91297339T>CCA390618097CCDC88Cc.3932A>G (p.Asp1311Gly)
c.3824A>G (p.Asp1275Gly)
n.4060A>G
c.1013A>G (p.Asp338Gly)
n.4058A>G
14g.91297339T>GCA390618098CCDC88Cc.3932A>C (p.Asp1311Ala)
c.3824A>C (p.Asp1275Ala)
n.4060A>C
c.1013A>C (p.Asp338Ala)
n.4058A>C
14g.91297340C>ACA390618101CCDC88Cc.3931G>T (p.Asp1311Tyr)
c.3823G>T (p.Asp1275Tyr)
n.4059G>T
c.1012G>T (p.Asp338Tyr)
n.4057G>T
14g.91297340C>GCA390618100CCDC88Cc.3931G>C (p.Asp1311His)
c.3823G>C (p.Asp1275His)
n.4059G>C
c.1012G>C (p.Asp338His)
n.4057G>C
14g.91297340C>TCA390618099CCDC88Cc.3931G>A (p.Asp1311Asn)
c.3823G>A (p.Asp1275Asn)
n.4059G>A
c.1012G>A (p.Asp338Asn)
n.4057G>A
14g.91297341C>ACA390618102CCDC88Cc.3930G>T (p.Met1310Ile)
c.3822G>T (p.Met1274Ile)
n.4058G>T
c.1011G>T (p.Met337Ile)
n.4056G>T
 dbSNP
14g.91297341C>GCA390618106CCDC88Cc.3930G>C (p.Met1310Ile)
c.3822G>C (p.Met1274Ile)
n.4058G>C
c.1011G>C (p.Met337Ile)
n.4056G>C
14g.91297341C>TCA390618103CCDC88Cc.3930G>A (p.Met1310Ile)
c.3822G>A (p.Met1274Ile)
n.4058G>A
c.1011G>A (p.Met337Ile)
n.4056G>A
 ClinVar
14g.91297342A=CA2154888554CCDC88Cc.3929T= (p.Met1310=)
c.3821T= (p.Met1274=)
n.4057T=
c.1010T= (p.Met337=)
n.4055T=
14g.91297342A>CCA390618108CCDC88Cc.3929T>G (p.Met1310Arg)
c.3821T>G (p.Met1274Arg)
n.4057T>G
c.1010T>G (p.Met337Arg)
n.4055T>G
14g.91297342A>GCA7309179CCDC88Cc.3929T>C (p.Met1310Thr)
c.3821T>C (p.Met1274Thr)
n.4057T>C
c.1010T>C (p.Met337Thr)
n.4055T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297342A>TCA390618110CCDC88Cc.3929T>A (p.Met1310Lys)
c.3821T>A (p.Met1274Lys)
n.4057T>A
c.1010T>A (p.Met337Lys)
n.4055T>A
14g.91297343T>ACA390618111CCDC88Cc.3928A>T (p.Met1310Leu)
c.3820A>T (p.Met1274Leu)
n.4056A>T
c.1009A>T (p.Met337Leu)
n.4054A>T
14g.91297343T>CCA7309180CCDC88Cc.3928A>G (p.Met1310Val)
c.3820A>G (p.Met1274Val)
n.4056A>G
c.1009A>G (p.Met337Val)
n.4054A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297343T>GCA390618113CCDC88Cc.3928A>C (p.Met1310Leu)
c.3820A>C (p.Met1274Leu)
n.4056A>C
c.1009A>C (p.Met337Leu)
n.4054A>C
14g.91297343T=CA2154888557CCDC88Cc.3928A= (p.Met1310=)
c.3820A= (p.Met1274=)
n.4056A=
c.1009A= (p.Met337=)
n.4054A=
14g.91297344G>ACA487546943CCDC88Cc.3927C>T (p.Thr1309=)
c.3819C>T (p.Thr1273=)
n.4055C>T
c.1008C>T (p.Thr336=)
n.4053C>T
14g.91297344G>CCA487546948CCDC88Cc.3927C>G (p.Thr1309=)
c.3819C>G (p.Thr1273=)
n.4055C>G
c.1008C>G (p.Thr336=)
n.4053C>G
14g.91297344G>TCA487546941CCDC88Cc.3927C>A (p.Thr1309=)
c.3819C>A (p.Thr1273=)
n.4055C>A
c.1008C>A (p.Thr336=)
n.4053C>A
14g.91297345G>ACA390618116CCDC88Cc.3926C>T (p.Thr1309Ile)
c.3818C>T (p.Thr1273Ile)
n.4054C>T
c.1007C>T (p.Thr336Ile)
n.4052C>T
14g.91297345G>CCA390618118CCDC88Cc.3926C>G (p.Thr1309Ser)
c.3818C>G (p.Thr1273Ser)
n.4054C>G
c.1007C>G (p.Thr336Ser)
n.4052C>G
14g.91297345G>TCA390618120CCDC88Cc.3926C>A (p.Thr1309Asn)
c.3818C>A (p.Thr1273Asn)
n.4054C>A
c.1007C>A (p.Thr336Asn)
n.4052C>A
14g.91297346T>ACA390618121CCDC88Cc.3925A>T (p.Thr1309Ser)
c.3817A>T (p.Thr1273Ser)
n.4053A>T
c.1006A>T (p.Thr336Ser)
n.4051A>T
14g.91297346T>CCA7309181CCDC88Cc.3925A>G (p.Thr1309Ala)
c.3817A>G (p.Thr1273Ala)
n.4053A>G
c.1006A>G (p.Thr336Ala)
n.4051A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297346T>GCA390618123CCDC88Cc.3925A>C (p.Thr1309Pro)
c.3817A>C (p.Thr1273Pro)
n.4053A>C
c.1006A>C (p.Thr336Pro)
n.4051A>C
 gnomAD v4
14g.91297346T=CA2154888560CCDC88Cc.3925A= (p.Thr1309=)
c.3817A= (p.Thr1273=)
n.4053A=
c.1006A= (p.Thr336=)
n.4051A=
14g.91297347C>ACA390618124CCDC88Cc.3924G>T (p.Gln1308His)
c.3816G>T (p.Gln1272His)
n.4052G>T
c.1005G>T (p.Gln335His)
n.4050G>T
14g.91297347C>GCA390618125CCDC88Cc.3924G>C (p.Gln1308His)
c.3816G>C (p.Gln1272His)
n.4052G>C
c.1005G>C (p.Gln335His)
n.4050G>C
14g.91297347C>TCA487546967CCDC88Cc.3924G>A (p.Gln1308=)
c.3816G>A (p.Gln1272=)
n.4052G>A
c.1005G>A (p.Gln335=)
n.4050G>A
14g.91297348T>ACA390618129CCDC88Cc.3923A>T (p.Gln1308Leu)
c.3815A>T (p.Gln1272Leu)
n.4051A>T
c.1004A>T (p.Gln335Leu)
n.4049A>T
14g.91297348T>CCA390618128CCDC88Cc.3923A>G (p.Gln1308Arg)
c.3815A>G (p.Gln1272Arg)
n.4051A>G
c.1004A>G (p.Gln335Arg)
n.4049A>G
14g.91297348T>GCA390618126CCDC88Cc.3923A>C (p.Gln1308Pro)
c.3815A>C (p.Gln1272Pro)
n.4051A>C
c.1004A>C (p.Gln335Pro)
n.4049A>C
14g.91297349G>ACA390618132CCDC88Cc.3922C>T (p.Gln1308Ter)
c.3814C>T (p.Gln1272Ter)
n.4050C>T
c.1003C>T (p.Gln335Ter)
n.4048C>T
14g.91297349G>CCA390618133CCDC88Cc.3922C>G (p.Gln1308Glu)
c.3814C>G (p.Gln1272Glu)
n.4050C>G
c.1003C>G (p.Gln335Glu)
n.4048C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91297349G=CA2154888564CCDC88Cc.3922C= (p.Gln1308=)
c.3814C= (p.Gln1272=)
n.4050C=
c.1003C= (p.Gln335=)
n.4048C=
14g.91297349G>TCA390618135CCDC88Cc.3922C>A (p.Gln1308Lys)
c.3814C>A (p.Gln1272Lys)
n.4050C>A
c.1003C>A (p.Gln335Lys)
n.4048C>A
14g.91297350G>ACA7309182CCDC88Cc.3921C>T (p.His1307=)
c.3813C>T (p.His1271=)
n.4049C>T
c.1002C>T (p.His334=)
n.4047C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297350G>CCA390618139CCDC88Cc.3921C>G (p.His1307Gln)
c.3813C>G (p.His1271Gln)
n.4049C>G
c.1002C>G (p.His334Gln)
n.4047C>G
14g.91297350G=CA2154888566CCDC88Cc.3921C= (p.His1307=)
c.3813C= (p.His1271=)
n.4049C=
c.1002C= (p.His334=)
n.4047C=
14g.91297350G>TCA390618141CCDC88Cc.3921C>A (p.His1307Gln)
c.3813C>A (p.His1271Gln)
n.4049C>A
c.1002C>A (p.His334Gln)
n.4047C>A
14g.91297354_91297446delCA2626129391CCDC88Cc.3829_3921del (p.Ala1277_His1307del)
c.3721_3813del (p.Ala1241_His1271del)
n.3957_4049del
c.910_1002del (p.Ala304_His334del)
n.3955_4047del
 gnomAD v4
14g.91297351T>ACA390618143CCDC88Cc.3920A>T (p.His1307Leu)
c.3812A>T (p.His1271Leu)
n.4048A>T
c.1001A>T (p.His334Leu)
n.4046A>T
14g.91297351T>CCA390618145CCDC88Cc.3920A>G (p.His1307Arg)
c.3812A>G (p.His1271Arg)
n.4048A>G
c.1001A>G (p.His334Arg)
n.4046A>G
14g.91297351T>GCA390618147CCDC88Cc.3920A>C (p.His1307Pro)
c.3812A>C (p.His1271Pro)
n.4048A>C
c.1001A>C (p.His334Pro)
n.4046A>C
14g.91297352G>ACA390618149CCDC88Cc.3919C>T (p.His1307Tyr)
c.3811C>T (p.His1271Tyr)
n.4047C>T
c.1000C>T (p.His334Tyr)
n.4045C>T
14g.91297352G>CCA390618151CCDC88Cc.3919C>G (p.His1307Asp)
c.3811C>G (p.His1271Asp)
n.4047C>G
c.1000C>G (p.His334Asp)
n.4045C>G
14g.91297352G>TCA390618153CCDC88Cc.3919C>A (p.His1307Asn)
c.3811C>A (p.His1271Asn)
n.4047C>A
c.1000C>A (p.His334Asn)
n.4045C>A
14g.91297353C>ACA390618155CCDC88Cc.3918G>T (p.Gln1306His)
c.3810G>T (p.Gln1270His)
n.4046G>T
c.999G>T (p.Gln333His)
n.4044G>T
14g.91297353C=CA2154888568CCDC88Cc.3918G= (p.Gln1306=)
c.3810G= (p.Gln1270=)
n.4046G=
c.999G= (p.Gln333=)
n.4044G=
14g.91297353C>GCA390618157CCDC88Cc.3918G>C (p.Gln1306His)
c.3810G>C (p.Gln1270His)
n.4046G>C
c.999G>C (p.Gln333His)
n.4044G>C
14g.91297353C>TCA487546992CCDC88Cc.3918G>A (p.Gln1306=)
c.3810G>A (p.Gln1270=)
n.4046G>A
c.999G>A (p.Gln333=)
n.4044G>A
 dbSNP
14g.91297354T>ACA390618159CCDC88Cc.3917A>T (p.Gln1306Leu)
c.3809A>T (p.Gln1270Leu)
n.4045A>T
c.998A>T (p.Gln333Leu)
n.4043A>T
 dbSNP
14g.91297354T>CCA7309183CCDC88Cc.3917A>G (p.Gln1306Arg)
c.3809A>G (p.Gln1270Arg)
n.4045A>G
c.998A>G (p.Gln333Arg)
n.4043A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297354T>GCA390618165CCDC88Cc.3917A>C (p.Gln1306Pro)
c.3809A>C (p.Gln1270Pro)
n.4045A>C
c.998A>C (p.Gln333Pro)
n.4043A>C
14g.91297354T=CA2154888570CCDC88Cc.3917A= (p.Gln1306=)
c.3809A= (p.Gln1270=)
n.4045A=
c.998A= (p.Gln333=)
n.4043A=
14g.91297355G>ACA7309184CCDC88Cc.3916C>T (p.Gln1306Ter)
c.3808C>T (p.Gln1270Ter)
n.4044C>T
c.997C>T (p.Gln333Ter)
n.4042C>T
 dbSNP ExAC gnomAD v2
14g.91297355G>CCA390618170CCDC88Cc.3916C>G (p.Gln1306Glu)
c.3808C>G (p.Gln1270Glu)
n.4044C>G
c.997C>G (p.Gln333Glu)
n.4042C>G
14g.91297355G=CA2154888573CCDC88Cc.3916C= (p.Gln1306=)
c.3808C= (p.Gln1270=)
n.4044C=
c.997C= (p.Gln333=)
n.4042C=
14g.91297355G>TCA390618172CCDC88Cc.3916C>A (p.Gln1306Lys)
c.3808C>A (p.Gln1270Lys)
n.4044C>A
c.997C>A (p.Gln333Lys)
n.4042C>A
 gnomAD v4
14g.91297356C>ACA390618175CCDC88Cc.3915G>T (p.Glu1305Asp)
c.3807G>T (p.Glu1269Asp)
n.4043G>T
c.996G>T (p.Glu332Asp)
n.4041G>T
14g.91297356C>GCA390618178CCDC88Cc.3915G>C (p.Glu1305Asp)
c.3807G>C (p.Glu1269Asp)
n.4043G>C
c.996G>C (p.Glu332Asp)
n.4041G>C
14g.91297356C>TCA487547010CCDC88Cc.3915G>A (p.Glu1305=)
c.3807G>A (p.Glu1269=)
n.4043G>A
c.996G>A (p.Glu332=)
n.4041G>A
 gnomAD v4
14g.91297357T>ACA390618180CCDC88Cc.3914A>T (p.Glu1305Val)
c.3806A>T (p.Glu1269Val)
n.4042A>T
c.995A>T (p.Glu332Val)
n.4040A>T
14g.91297357T>CCA390618182CCDC88Cc.3914A>G (p.Glu1305Gly)
c.3806A>G (p.Glu1269Gly)
n.4042A>G
c.995A>G (p.Glu332Gly)
n.4040A>G
 gnomAD v4
14g.91297357T>GCA390618184CCDC88Cc.3914A>C (p.Glu1305Ala)
c.3806A>C (p.Glu1269Ala)
n.4042A>C
c.995A>C (p.Glu332Ala)
n.4040A>C
14g.91297358C>ACA390618190CCDC88Cc.3913G>T (p.Glu1305Ter)
c.3805G>T (p.Glu1269Ter)
n.4041G>T
c.994G>T (p.Glu332Ter)
n.4039G>T
14g.91297358C>GCA390618188CCDC88Cc.3913G>C (p.Glu1305Gln)
c.3805G>C (p.Glu1269Gln)
n.4041G>C
c.994G>C (p.Glu332Gln)
n.4039G>C
14g.91297358C>TCA390618186CCDC88Cc.3913G>A (p.Glu1305Lys)
c.3805G>A (p.Glu1269Lys)
n.4041G>A
c.994G>A (p.Glu332Lys)
n.4039G>A
 gnomAD v4
14g.91297359C>ACA390618191CCDC88Cc.3912G>T (p.Lys1304Asn)
c.3804G>T (p.Lys1268Asn)
n.4040G>T
c.993G>T (p.Lys331Asn)
n.4038G>T
 ClinVar
14g.91297359C>GCA390618193CCDC88Cc.3912G>C (p.Lys1304Asn)
c.3804G>C (p.Lys1268Asn)
n.4040G>C
c.993G>C (p.Lys331Asn)
n.4038G>C
14g.91297359C>TCA487547037CCDC88Cc.3912G>A (p.Lys1304=)
c.3804G>A (p.Lys1268=)
n.4040G>A
c.993G>A (p.Lys331=)
n.4038G>A
 gnomAD v4
14g.91297360T>ACA390618196CCDC88Cc.3911A>T (p.Lys1304Met)
c.3803A>T (p.Lys1268Met)
n.4039A>T
c.992A>T (p.Lys331Met)
n.4037A>T
14g.91297360T>CCA390618197CCDC88Cc.3911A>G (p.Lys1304Arg)
c.3803A>G (p.Lys1268Arg)
n.4039A>G
c.992A>G (p.Lys331Arg)
n.4037A>G
14g.91297360T>GCA390618199CCDC88Cc.3911A>C (p.Lys1304Thr)
c.3803A>C (p.Lys1268Thr)
n.4039A>C
c.992A>C (p.Lys331Thr)
n.4037A>C
14g.91297361T>ACA390618201CCDC88Cc.3910A>T (p.Lys1304Ter)
c.3802A>T (p.Lys1268Ter)
n.4038A>T
c.991A>T (p.Lys331Ter)
n.4036A>T
14g.91297361T>CCA390618203CCDC88Cc.3910A>G (p.Lys1304Glu)
c.3802A>G (p.Lys1268Glu)
n.4038A>G
c.991A>G (p.Lys331Glu)
n.4036A>G
14g.91297361T>GCA390618205CCDC88Cc.3910A>C (p.Lys1304Gln)
c.3802A>C (p.Lys1268Gln)
n.4038A>C
c.991A>C (p.Lys331Gln)
n.4036A>C
14g.91297362C>ACA487547040CCDC88Cc.3909G>T (p.Leu1303=)
c.3801G>T (p.Leu1267=)
n.4037G>T
c.990G>T (p.Leu330=)
n.4035G>T
14g.91297362C>GCA487547041CCDC88Cc.3909G>C (p.Leu1303=)
c.3801G>C (p.Leu1267=)
n.4037G>C
c.990G>C (p.Leu330=)
n.4035G>C
14g.91297362C>TCA487547042CCDC88Cc.3909G>A (p.Leu1303=)
c.3801G>A (p.Leu1267=)
n.4037G>A
c.990G>A (p.Leu330=)
n.4035G>A
14g.91297363A>CCA390618207CCDC88Cc.3908T>G (p.Leu1303Arg)
c.3800T>G (p.Leu1267Arg)
n.4036T>G
c.989T>G (p.Leu330Arg)
n.4034T>G
14g.91297363A>GCA390618209CCDC88Cc.3908T>C (p.Leu1303Pro)
c.3800T>C (p.Leu1267Pro)
n.4036T>C
c.989T>C (p.Leu330Pro)
n.4034T>C
14g.91297363A>TCA390618212CCDC88Cc.3908T>A (p.Leu1303Gln)
c.3800T>A (p.Leu1267Gln)
n.4036T>A
c.989T>A (p.Leu330Gln)
n.4034T>A
14g.91297364G>ACA487547053CCDC88Cc.3907C>T (p.Leu1303=)
c.3799C>T (p.Leu1267=)
n.4035C>T
c.988C>T (p.Leu330=)
n.4033C>T
 gnomAD v4
14g.91297364G>CCA390618214CCDC88Cc.3907C>G (p.Leu1303Val)
c.3799C>G (p.Leu1267Val)
n.4035C>G
c.988C>G (p.Leu330Val)
n.4033C>G
14g.91297364G>TCA390618216CCDC88Cc.3907C>A (p.Leu1303Met)
c.3799C>A (p.Leu1267Met)
n.4035C>A
c.988C>A (p.Leu330Met)
n.4033C>A
14g.91297365C>ACA390618220CCDC88Cc.3906G>T (p.Glu1302Asp)
c.3798G>T (p.Glu1266Asp)
n.4034G>T
c.987G>T (p.Glu329Asp)
n.4032G>T
14g.91297365C>GCA390618218CCDC88Cc.3906G>C (p.Glu1302Asp)
c.3798G>C (p.Glu1266Asp)
n.4034G>C
c.987G>C (p.Glu329Asp)
n.4032G>C
14g.91297365C>TCA487547058CCDC88Cc.3906G>A (p.Glu1302=)
c.3798G>A (p.Glu1266=)
n.4034G>A
c.987G>A (p.Glu329=)
n.4032G>A
14g.91297366T>ACA390618222CCDC88Cc.3905A>T (p.Glu1302Val)
c.3797A>T (p.Glu1266Val)
n.4033A>T
c.986A>T (p.Glu329Val)
n.4031A>T
14g.91297366T>CCA390618225CCDC88Cc.3905A>G (p.Glu1302Gly)
c.3797A>G (p.Glu1266Gly)
n.4033A>G
c.986A>G (p.Glu329Gly)
n.4031A>G
14g.91297366T>GCA390618223CCDC88Cc.3905A>C (p.Glu1302Ala)
c.3797A>C (p.Glu1266Ala)
n.4033A>C
c.986A>C (p.Glu329Ala)
n.4031A>C
14g.91297367C>ACA390618227CCDC88Cc.3904G>T (p.Glu1302Ter)
c.3796G>T (p.Glu1266Ter)
n.4032G>T
c.985G>T (p.Glu329Ter)
n.4030G>T
14g.91297367C=CA2154888577CCDC88Cc.3904G= (p.Glu1302=)
c.3796G= (p.Glu1266=)
n.4032G=
c.985G= (p.Glu329=)
n.4030G=
14g.91297367C>GCA390618228CCDC88Cc.3904G>C (p.Glu1302Gln)
c.3796G>C (p.Glu1266Gln)
n.4032G>C
c.985G>C (p.Glu329Gln)
n.4030G>C
14g.91297367C>TCA7309185CCDC88Cc.3904G>A (p.Glu1302Lys)
c.3796G>A (p.Glu1266Lys)
n.4032G>A
c.985G>A (p.Glu329Lys)
n.4030G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297368G>ACA7309186CCDC88Cc.3903C>T (p.Asp1301=)
c.3795C>T (p.Asp1265=)
n.4031C>T
c.984C>T (p.Asp328=)
n.4029C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297368G>CCA390618232CCDC88Cc.3903C>G (p.Asp1301Glu)
c.3795C>G (p.Asp1265Glu)
n.4031C>G
c.984C>G (p.Asp328Glu)
n.4029C>G
 dbSNP gnomAD v3 gnomAD v4
14g.91297368G=CA2154888582CCDC88Cc.3903C= (p.Asp1301=)
c.3795C= (p.Asp1265=)
n.4031C=
c.984C= (p.Asp328=)
n.4029C=
14g.91297368G>TCA390618233CCDC88Cc.3903C>A (p.Asp1301Glu)
c.3795C>A (p.Asp1265Glu)
n.4031C>A
c.984C>A (p.Asp328Glu)
n.4029C>A
14g.91297369T>ACA390618234CCDC88Cc.3902A>T (p.Asp1301Val)
c.3794A>T (p.Asp1265Val)
n.4030A>T
c.983A>T (p.Asp328Val)
n.4028A>T
14g.91297369T>CCA7309187CCDC88Cc.3902A>G (p.Asp1301Gly)
c.3794A>G (p.Asp1265Gly)
n.4030A>G
c.983A>G (p.Asp328Gly)
n.4028A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297369T>GCA390618236CCDC88Cc.3902A>C (p.Asp1301Ala)
c.3794A>C (p.Asp1265Ala)
n.4030A>C
c.983A>C (p.Asp328Ala)
n.4028A>C
14g.91297369T=CA2154888584CCDC88Cc.3902A= (p.Asp1301=)
c.3794A= (p.Asp1265=)
n.4030A=
c.983A= (p.Asp328=)
n.4028A=
14g.91297370C>ACA390618238CCDC88Cc.3901G>T (p.Asp1301Tyr)
c.3793G>T (p.Asp1265Tyr)
n.4029G>T
c.982G>T (p.Asp328Tyr)
n.4027G>T
14g.91297370C=CA2154888587CCDC88Cc.3901G= (p.Asp1301=)
c.3793G= (p.Asp1265=)
n.4029G=
c.982G= (p.Asp328=)
n.4027G=
14g.91297370C>GCA390618240CCDC88Cc.3901G>C (p.Asp1301His)
c.3793G>C (p.Asp1265His)
n.4029G>C
c.982G>C (p.Asp328His)
n.4027G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297370C>TCA7309188CCDC88Cc.3901G>A (p.Asp1301Asn)
c.3793G>A (p.Asp1265Asn)
n.4029G>A
c.982G>A (p.Asp328Asn)
n.4027G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297371G>ACA7309189CCDC88Cc.3900C>T (p.Phe1300=)
c.3792C>T (p.Phe1264=)
n.4028C>T
c.981C>T (p.Phe327=)
n.4026C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297371G>CCA390618245CCDC88Cc.3900C>G (p.Phe1300Leu)
c.3792C>G (p.Phe1264Leu)
n.4028C>G
c.981C>G (p.Phe327Leu)
n.4026C>G
14g.91297371G=CA2154888595CCDC88Cc.3900C= (p.Phe1300=)
c.3792C= (p.Phe1264=)
n.4028C=
c.981C= (p.Phe327=)
n.4026C=
14g.91297371G>TCA390618243CCDC88Cc.3900C>A (p.Phe1300Leu)
c.3792C>A (p.Phe1264Leu)
n.4028C>A
c.981C>A (p.Phe327Leu)
n.4026C>A
14g.91297372A>CCA390618249CCDC88Cc.3899T>G (p.Phe1300Cys)
c.3791T>G (p.Phe1264Cys)
n.4027T>G
c.980T>G (p.Phe327Cys)
n.4025T>G
14g.91297372A>GCA390618250CCDC88Cc.3899T>C (p.Phe1300Ser)
c.3791T>C (p.Phe1264Ser)
n.4027T>C
c.980T>C (p.Phe327Ser)
n.4025T>C
14g.91297372A>TCA390618252CCDC88Cc.3899T>A (p.Phe1300Tyr)
c.3791T>A (p.Phe1264Tyr)
n.4027T>A
c.980T>A (p.Phe327Tyr)
n.4025T>A
14g.91297373A>CCA390618255CCDC88Cc.3898T>G (p.Phe1300Val)
c.3790T>G (p.Phe1264Val)
n.4026T>G
c.979T>G (p.Phe327Val)
n.4024T>G
14g.91297373A>GCA390618256CCDC88Cc.3898T>C (p.Phe1300Leu)
c.3790T>C (p.Phe1264Leu)
n.4026T>C
c.979T>C (p.Phe327Leu)
n.4024T>C
 gnomAD v4
14g.91297373A>TCA390618257CCDC88Cc.3898T>A (p.Phe1300Ile)
c.3790T>A (p.Phe1264Ile)
n.4026T>A
c.979T>A (p.Phe327Ile)
n.4024T>A
14g.91297374G>ACA487547085CCDC88Cc.3897C>T (p.Arg1299=)
c.3789C>T (p.Arg1263=)
n.4025C>T
c.978C>T (p.Arg326=)
n.4023C>T
14g.91297374G>CCA487547087CCDC88Cc.3897C>G (p.Arg1299=)
c.3789C>G (p.Arg1263=)
n.4025C>G
c.978C>G (p.Arg326=)
n.4023C>G
14g.91297374G>TCA487547090CCDC88Cc.3897C>A (p.Arg1299=)
c.3789C>A (p.Arg1263=)
n.4025C>A
c.978C>A (p.Arg326=)
n.4023C>A
14g.91297375_91297388delCA2626129430CCDC88Cc.3884_3897del (p.Arg1295LeufsTer23)
c.3776_3789del (p.Arg1259LeufsTer23)
n.4012_4025del
c.965_978del (p.Arg322LeufsTer23)
n.4010_4023del
 gnomAD v4
14g.91297375C>ACA7309191CCDC88Cc.3896G>T (p.Arg1299Leu)
c.3788G>T (p.Arg1263Leu)
n.4024G>T
c.977G>T (p.Arg326Leu)
n.4022G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91297375C=CA2154888602CCDC88Cc.3896G= (p.Arg1299=)
c.3788G= (p.Arg1263=)
n.4024G=
c.977G= (p.Arg326=)
n.4022G=
14g.91297375C>GCA390618258CCDC88Cc.3896G>C (p.Arg1299Pro)
c.3788G>C (p.Arg1263Pro)
n.4024G>C
c.977G>C (p.Arg326Pro)
n.4022G>C
 dbSNP
14g.91297375C>TCA7309190CCDC88Cc.3896G>A (p.Arg1299His)
c.3788G>A (p.Arg1263His)
n.4024G>A
c.977G>A (p.Arg326His)
n.4022G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297376G>ACA7309192CCDC88Cc.3895C>T (p.Arg1299Cys)
c.3787C>T (p.Arg1263Cys)
n.4023C>T
c.976C>T (p.Arg326Cys)
n.4021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.91297376G>CCA390618260CCDC88Cc.3895C>G (p.Arg1299Gly)
c.3787C>G (p.Arg1263Gly)
n.4023C>G
c.976C>G (p.Arg326Gly)
n.4021C>G
14g.91297376G=CA2154888614CCDC88Cc.3895C= (p.Arg1299=)
c.3787C= (p.Arg1263=)
n.4023C=
c.976C= (p.Arg326=)
n.4021C=
14g.91297376G>TCA390618261CCDC88Cc.3895C>A (p.Arg1299Ser)
c.3787C>A (p.Arg1263Ser)
n.4023C>A
c.976C>A (p.Arg326Ser)
n.4021C>A
 gnomAD v4
14g.91297377G>ACA487547103CCDC88Cc.3894C>T (p.Ala1298=)
c.3786C>T (p.Ala1262=)
n.4022C>T
c.975C>T (p.Ala325=)
n.4020C>T
14g.91297377G>CCA487547105CCDC88Cc.3894C>G (p.Ala1298=)
c.3786C>G (p.Ala1262=)
n.4022C>G
c.975C>G (p.Ala325=)
n.4020C>G
14g.91297377G>TCA487547107CCDC88Cc.3894C>A (p.Ala1298=)
c.3786C>A (p.Ala1262=)
n.4022C>A
c.975C>A (p.Ala325=)
n.4020C>A
14g.91297378G>ACA390618265CCDC88Cc.3893C>T (p.Ala1298Val)
c.3785C>T (p.Ala1262Val)
n.4021C>T
c.974C>T (p.Ala325Val)
n.4019C>T
 ClinVar dbSNP gnomAD v4
14g.91297378G>CCA7309193CCDC88Cc.3893C>G (p.Ala1298Gly)
c.3785C>G (p.Ala1262Gly)
n.4021C>G
c.974C>G (p.Ala325Gly)
n.4019C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91297378G=CA2154888619CCDC88Cc.3893C= (p.Ala1298=)
c.3785C= (p.Ala1262=)
n.4021C=
c.974C= (p.Ala325=)
n.4019C=
14g.91297378G>TCA390618264CCDC88Cc.3893C>A (p.Ala1298Asp)
c.3785C>A (p.Ala1262Asp)
n.4021C>A
c.974C>A (p.Ala325Asp)
n.4019C>A
14g.91297379C>ACA390618267CCDC88Cc.3892G>T (p.Ala1298Ser)
c.3784G>T (p.Ala1262Ser)
n.4020G>T
c.973G>T (p.Ala325Ser)
n.4018G>T
14g.91297379C>GCA390618269CCDC88Cc.3892G>C (p.Ala1298Pro)
c.3784G>C (p.Ala1262Pro)
n.4020G>C
c.973G>C (p.Ala325Pro)
n.4018G>C
14g.91297379C>TCA390618271CCDC88Cc.3892G>A (p.Ala1298Thr)
c.3784G>A (p.Ala1262Thr)
n.4020G>A
c.973G>A (p.Ala325Thr)
n.4018G>A
 gnomAD v4
14g.91297380C>ACA390618273CCDC88Cc.3891G>T (p.Gln1297His)
c.3783G>T (p.Gln1261His)
n.4019G>T
c.972G>T (p.Gln324His)
n.4017G>T
14g.91297380C>GCA390618275CCDC88Cc.3891G>C (p.Gln1297His)
c.3783G>C (p.Gln1261His)
n.4019G>C
c.972G>C (p.Gln324His)
n.4017G>C
14g.91297380C>TCA487547117CCDC88Cc.3891G>A (p.Gln1297=)
c.3783G>A (p.Gln1261=)
n.4019G>A
c.972G>A (p.Gln324=)
n.4017G>A
14g.91297381T>ACA390618281CCDC88Cc.3890A>T (p.Gln1297Leu)
c.3782A>T (p.Gln1261Leu)
n.4018A>T
c.971A>T (p.Gln324Leu)
n.4016A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91297381T>CCA390618280CCDC88Cc.3890A>G (p.Gln1297Arg)
c.3782A>G (p.Gln1261Arg)
n.4018A>G
c.971A>G (p.Gln324Arg)
n.4016A>G
 COSMIC COSMIC
14g.91297381T>GCA390618277CCDC88Cc.3890A>C (p.Gln1297Pro)
c.3782A>C (p.Gln1261Pro)
n.4018A>C
c.971A>C (p.Gln324Pro)
n.4016A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91297381T=CA2154888630CCDC88Cc.3890A= (p.Gln1297=)
c.3782A= (p.Gln1261=)
n.4018A=
c.971A= (p.Gln324=)
n.4016A=

Number of alleles fetched