Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.44333031_44333047delCA2654807824CFAP410c.361_373+4del
n.2532_2544+4del
n.420_432+4del
n.477_489+4del
c.238_250+4del
c.436_448+4del
c.37_49+4del
n.564_576+4del
c.565_577+4del
c.310_322+4del
n.571_583+4del
 gnomAD v4
21g.44333039_44333102delCA2654807832CFAP410c.309_372del (p.Ser103ArgfsTer3)
n.2480_2543del
n.368_431del
n.425_488del
c.186_249del (p.Ser62ArgfsTer3)
c.384_447del (p.Ser128ArgfsTer3)
c.-16_48del
n.512_575del
c.513_576del (p.Ser171ArgfsTer3)
c.258_321del (p.Ser86ArgfsTer3)
n.519_582del
 gnomAD v4
21g.44333035T>ACA410456135CFAP410c.371A>T (p.Gln124Leu)
n.2542A>T
n.430A>T
n.487A>T
c.248A>T (p.Gln83Leu)
c.446A>T (p.Gln149Leu)
c.47A>T (p.Gln16Leu)
n.574A>T
c.575A>T (p.Gln192Leu)
c.320A>T (p.Gln107Leu)
n.581A>T
21g.44333035T>CCA410456139CFAP410c.371A>G (p.Gln124Arg)
n.2542A>G
n.430A>G
n.487A>G
c.248A>G (p.Gln83Arg)
c.446A>G (p.Gln149Arg)
c.47A>G (p.Gln16Arg)
n.574A>G
c.575A>G (p.Gln192Arg)
c.320A>G (p.Gln107Arg)
n.581A>G
 dbSNP gnomAD v4
21g.44333035T>GCA410456137CFAP410c.371A>C (p.Gln124Pro)
n.2542A>C
n.430A>C
n.487A>C
c.248A>C (p.Gln83Pro)
c.446A>C (p.Gln149Pro)
c.47A>C (p.Gln16Pro)
n.574A>C
c.575A>C (p.Gln192Pro)
c.320A>C (p.Gln107Pro)
n.581A>C
21g.44333035T=CA2391590905CFAP410c.371A= (p.Gln124=)
n.2542A=
n.430A=
n.487A=
c.248A= (p.Gln83=)
c.446A= (p.Gln149=)
c.47A= (p.Gln16=)
n.574A=
c.575A= (p.Gln192=)
c.320A= (p.Gln107=)
n.581A=
21g.44333036G>ACA410456141CFAP410c.370C>T (p.Gln124Ter)
n.2541C>T
n.429C>T
n.486C>T
c.247C>T (p.Gln83Ter)
c.445C>T (p.Gln149Ter)
c.46C>T (p.Gln16Ter)
n.573C>T
c.574C>T (p.Gln192Ter)
c.319C>T (p.Gln107Ter)
n.580C>T
 gnomAD v4
21g.44333036G>CCA410456143CFAP410c.370C>G (p.Gln124Glu)
n.2541C>G
n.429C>G
n.486C>G
c.247C>G (p.Gln83Glu)
c.445C>G (p.Gln149Glu)
c.46C>G (p.Gln16Glu)
n.573C>G
c.574C>G (p.Gln192Glu)
c.319C>G (p.Gln107Glu)
n.580C>G
21g.44333036G>TCA410456144CFAP410c.370C>A (p.Gln124Lys)
n.2541C>A
n.429C>A
n.486C>A
c.247C>A (p.Gln83Lys)
c.445C>A (p.Gln149Lys)
c.46C>A (p.Gln16Lys)
n.573C>A
c.574C>A (p.Gln192Lys)
c.319C>A (p.Gln107Lys)
n.580C>A
21g.44333037delCA2577621289CFAP410c.370del (p.Gln124ArgfsTer3)
n.2541del
n.429del
n.486del
c.247del (p.Gln83ArgfsTer3)
c.445del (p.Gln149ArgfsTer3)
c.46del (p.Gln16ArgfsTer3)
n.573del
c.574del (p.Gln192ArgfsTer3)
c.319del (p.Gln107ArgfsTer3)
n.580del
21g.44333037G>ACA512670822CFAP410c.369C>T (p.Asn123=)
n.2540C>T
n.428C>T
n.485C>T
c.246C>T (p.Asn82=)
c.444C>T (p.Asn148=)
c.45C>T (p.Asn15=)
n.572C>T
c.573C>T (p.Asn191=)
c.318C>T (p.Asn106=)
n.579C>T
21g.44333037G>CCA410456146CFAP410c.369C>G (p.Asn123Lys)
n.2540C>G
n.428C>G
n.485C>G
c.246C>G (p.Asn82Lys)
c.444C>G (p.Asn148Lys)
c.45C>G (p.Asn15Lys)
n.572C>G
c.573C>G (p.Asn191Lys)
c.318C>G (p.Asn106Lys)
n.579C>G
21g.44333037G>TCA410456148CFAP410c.369C>A (p.Asn123Lys)
n.2540C>A
n.428C>A
n.485C>A
c.246C>A (p.Asn82Lys)
c.444C>A (p.Asn148Lys)
c.45C>A (p.Asn15Lys)
n.572C>A
c.573C>A (p.Asn191Lys)
c.318C>A (p.Asn106Lys)
n.579C>A
21g.44333038T>ACA410456151CFAP410c.368A>T (p.Asn123Ile)
n.2539A>T
n.427A>T
n.484A>T
c.245A>T (p.Asn82Ile)
c.443A>T (p.Asn148Ile)
c.44A>T (p.Asn15Ile)
n.571A>T
c.572A>T (p.Asn191Ile)
c.317A>T (p.Asn106Ile)
n.578A>T
21g.44333038T>CCA410456152CFAP410c.368A>G (p.Asn123Ser)
n.2539A>G
n.427A>G
n.484A>G
c.245A>G (p.Asn82Ser)
c.443A>G (p.Asn148Ser)
c.44A>G (p.Asn15Ser)
n.571A>G
c.572A>G (p.Asn191Ser)
c.317A>G (p.Asn106Ser)
n.578A>G
21g.44333038T>GCA410456154CFAP410c.368A>C (p.Asn123Thr)
n.2539A>C
n.427A>C
n.484A>C
c.245A>C (p.Asn82Thr)
c.443A>C (p.Asn148Thr)
c.44A>C (p.Asn15Thr)
n.571A>C
c.572A>C (p.Asn191Thr)
c.317A>C (p.Asn106Thr)
n.578A>C
 dbSNP
21g.44333038T=CA2391590906CFAP410c.368A= (p.Asn123=)
n.2539A=
n.427A=
n.484A=
c.245A= (p.Asn82=)
c.443A= (p.Asn148=)
c.44A= (p.Asn15=)
n.571A=
c.572A= (p.Asn191=)
c.317A= (p.Asn106=)
n.578A=
21g.44333039T>ACA410456156CFAP410c.367A>T (p.Asn123Tyr)
n.2538A>T
n.426A>T
n.483A>T
c.244A>T (p.Asn82Tyr)
c.442A>T (p.Asn148Tyr)
c.43A>T (p.Asn15Tyr)
n.570A>T
c.571A>T (p.Asn191Tyr)
c.316A>T (p.Asn106Tyr)
n.577A>T
21g.44333039T>CCA10053712CFAP410c.367A>G (p.Asn123Asp)
n.2538A>G
n.426A>G
n.483A>G
c.244A>G (p.Asn82Asp)
c.442A>G (p.Asn148Asp)
c.43A>G (p.Asn15Asp)
n.570A>G
c.571A>G (p.Asn191Asp)
c.316A>G (p.Asn106Asp)
n.577A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333039T>GCA410456157CFAP410c.367A>C (p.Asn123His)
n.2538A>C
n.426A>C
n.483A>C
c.244A>C (p.Asn82His)
c.442A>C (p.Asn148His)
c.43A>C (p.Asn15His)
n.570A>C
c.571A>C (p.Asn191His)
c.316A>C (p.Asn106His)
n.577A>C
21g.44333039T=CA2391590907CFAP410c.367A= (p.Asn123=)
n.2538A=
n.426A=
n.483A=
c.244A= (p.Asn82=)
c.442A= (p.Asn148=)
c.43A= (p.Asn15=)
n.570A=
c.571A= (p.Asn191=)
c.316A= (p.Asn106=)
n.577A=
21g.44333040G>ACA512670823CFAP410c.366C>T (p.Asp122=)
n.2537C>T
n.425C>T
n.482C>T
c.243C>T (p.Asp81=)
c.441C>T (p.Asp147=)
c.42C>T (p.Asp14=)
n.569C>T
c.570C>T (p.Asp190=)
c.315C>T (p.Asp105=)
n.576C>T
 ClinVar dbSNP
21g.44333040G>CCA410456161CFAP410c.366C>G (p.Asp122Glu)
n.2537C>G
n.425C>G
n.482C>G
c.243C>G (p.Asp81Glu)
c.441C>G (p.Asp147Glu)
c.42C>G (p.Asp14Glu)
n.569C>G
c.570C>G (p.Asp190Glu)
c.315C>G (p.Asp105Glu)
n.576C>G
21g.44333040G=CA2391590908CFAP410c.366C= (p.Asp122=)
n.2537C=
n.425C=
n.482C=
c.243C= (p.Asp81=)
c.441C= (p.Asp147=)
c.42C= (p.Asp14=)
n.569C=
c.570C= (p.Asp190=)
c.315C= (p.Asp105=)
n.576C=
21g.44333040G>TCA410456160CFAP410c.366C>A (p.Asp122Glu)
n.2537C>A
n.425C>A
n.482C>A
c.243C>A (p.Asp81Glu)
c.441C>A (p.Asp147Glu)
c.42C>A (p.Asp14Glu)
n.569C>A
c.570C>A (p.Asp190Glu)
c.315C>A (p.Asp105Glu)
n.576C>A
 gnomAD v4
21g.44333041T>ACA410456164CFAP410c.365A>T (p.Asp122Val)
n.2536A>T
n.424A>T
n.481A>T
c.242A>T (p.Asp81Val)
c.440A>T (p.Asp147Val)
c.41A>T (p.Asp14Val)
n.568A>T
c.569A>T (p.Asp190Val)
c.314A>T (p.Asp105Val)
n.575A>T
21g.44333041T>CCA410456168CFAP410c.365A>G (p.Asp122Gly)
n.2536A>G
n.424A>G
n.481A>G
c.242A>G (p.Asp81Gly)
c.440A>G (p.Asp147Gly)
c.41A>G (p.Asp14Gly)
n.568A>G
c.569A>G (p.Asp190Gly)
c.314A>G (p.Asp105Gly)
n.575A>G
 gnomAD v4
21g.44333041T>GCA410456166CFAP410c.365A>C (p.Asp122Ala)
n.2536A>C
n.424A>C
n.481A>C
c.242A>C (p.Asp81Ala)
c.440A>C (p.Asp147Ala)
c.41A>C (p.Asp14Ala)
n.568A>C
c.569A>C (p.Asp190Ala)
c.314A>C (p.Asp105Ala)
n.575A>C
21g.44333042C>ACA410456170CFAP410c.364G>T (p.Asp122Tyr)
n.2535G>T
n.423G>T
n.480G>T
c.241G>T (p.Asp81Tyr)
c.439G>T (p.Asp147Tyr)
c.40G>T (p.Asp14Tyr)
n.567G>T
c.568G>T (p.Asp190Tyr)
c.313G>T (p.Asp105Tyr)
n.574G>T
21g.44333042C=CA2391590909CFAP410c.364G= (p.Asp122=)
n.2535G=
n.423G=
n.480G=
c.241G= (p.Asp81=)
c.439G= (p.Asp147=)
c.40G= (p.Asp14=)
n.567G=
c.568G= (p.Asp190=)
c.313G= (p.Asp105=)
n.574G=
21g.44333042C>GCA410456173CFAP410c.364G>C (p.Asp122His)
n.2535G>C
n.423G>C
n.480G>C
c.241G>C (p.Asp81His)
c.439G>C (p.Asp147His)
c.40G>C (p.Asp14His)
n.567G>C
c.568G>C (p.Asp190His)
c.313G>C (p.Asp105His)
n.574G>C
 ClinVar dbSNP gnomAD v4
21g.44333042C>TCA410456171CFAP410c.364G>A (p.Asp122Asn)
n.2535G>A
n.423G>A
n.480G>A
c.241G>A (p.Asp81Asn)
c.439G>A (p.Asp147Asn)
c.40G>A (p.Asp14Asn)
n.567G>A
c.568G>A (p.Asp190Asn)
c.313G>A (p.Asp105Asn)
n.574G>A
 ClinVar dbSNP
21g.44333043C>ACA512670824CFAP410c.363G>T (p.Leu121=)
n.2534G>T
n.422G>T
n.479G>T
c.240G>T (p.Leu80=)
c.438G>T (p.Leu146=)
c.39G>T (p.Leu13=)
n.566G>T
c.567G>T (p.Leu189=)
c.312G>T (p.Leu104=)
n.573G>T
 gnomAD v4
21g.44333043C>GCA512670825CFAP410c.363G>C (p.Leu121=)
n.2534G>C
n.422G>C
n.479G>C
c.240G>C (p.Leu80=)
c.438G>C (p.Leu146=)
c.39G>C (p.Leu13=)
n.566G>C
c.567G>C (p.Leu189=)
c.312G>C (p.Leu104=)
n.573G>C
21g.44333043C>TCA512670826CFAP410c.363G>A (p.Leu121=)
n.2534G>A
n.422G>A
n.479G>A
c.240G>A (p.Leu80=)
c.438G>A (p.Leu146=)
c.39G>A (p.Leu13=)
n.566G>A
c.567G>A (p.Leu189=)
c.312G>A (p.Leu104=)
n.573G>A
 gnomAD v4
21g.44333044A>CCA410456176CFAP410c.362T>G (p.Leu121Arg)
n.2533T>G
n.421T>G
n.478T>G
c.239T>G (p.Leu80Arg)
c.437T>G (p.Leu146Arg)
c.38T>G (p.Leu13Arg)
n.565T>G
c.566T>G (p.Leu189Arg)
c.311T>G (p.Leu104Arg)
n.572T>G
21g.44333044A>GCA410456177CFAP410c.362T>C (p.Leu121Pro)
n.2533T>C
n.421T>C
n.478T>C
c.239T>C (p.Leu80Pro)
c.437T>C (p.Leu146Pro)
c.38T>C (p.Leu13Pro)
n.565T>C
c.566T>C (p.Leu189Pro)
c.311T>C (p.Leu104Pro)
n.572T>C
21g.44333044A>TCA410456178CFAP410c.362T>A (p.Leu121Gln)
n.2533T>A
n.421T>A
n.478T>A
c.239T>A (p.Leu80Gln)
c.437T>A (p.Leu146Gln)
c.38T>A (p.Leu13Gln)
n.565T>A
c.566T>A (p.Leu189Gln)
c.311T>A (p.Leu104Gln)
n.572T>A
21g.44333045G>ACA512670827CFAP410c.361C>T (p.Leu121=)
n.2532C>T
n.420C>T
n.477C>T
c.238C>T (p.Leu80=)
c.436C>T (p.Leu146=)
c.37C>T (p.Leu13=)
n.564C>T
c.565C>T (p.Leu189=)
c.310C>T (p.Leu104=)
n.571C>T
 COSMIC
21g.44333045G>CCA410456180CFAP410c.361C>G (p.Leu121Val)
n.2532C>G
n.420C>G
n.477C>G
c.238C>G (p.Leu80Val)
c.436C>G (p.Leu146Val)
c.37C>G (p.Leu13Val)
n.564C>G
c.565C>G (p.Leu189Val)
c.310C>G (p.Leu104Val)
n.571C>G
21g.44333045G>TCA410456183CFAP410c.361C>A (p.Leu121Met)
n.2532C>A
n.420C>A
n.477C>A
c.238C>A (p.Leu80Met)
c.436C>A (p.Leu146Met)
c.37C>A (p.Leu13Met)
n.564C>A
c.565C>A (p.Leu189Met)
c.310C>A (p.Leu104Met)
n.571C>A
 gnomAD v4
21g.44333046C>ACA410456187CFAP410c.360G>T (p.Lys120Asn)
n.2531G>T
n.419G>T
n.476G>T
c.237G>T (p.Lys79Asn)
c.435G>T (p.Lys145Asn)
c.36G>T (p.Lys12Asn)
n.563G>T
c.564G>T (p.Lys188Asn)
c.309G>T (p.Lys103Asn)
n.570G>T
 gnomAD v4
21g.44333046C=CA2391590910CFAP410c.360G= (p.Lys120=)
n.2531G=
n.419G=
n.476G=
c.237G= (p.Lys79=)
c.435G= (p.Lys145=)
c.36G= (p.Lys12=)
n.563G=
c.564G= (p.Lys188=)
c.309G= (p.Lys103=)
n.570G=
21g.44333046C>GCA10053713CFAP410c.360G>C (p.Lys120Asn)
n.2531G>C
n.419G>C
n.476G>C
c.237G>C (p.Lys79Asn)
c.435G>C (p.Lys145Asn)
c.36G>C (p.Lys12Asn)
n.563G>C
c.564G>C (p.Lys188Asn)
c.309G>C (p.Lys103Asn)
n.570G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333046C>TCA512670828CFAP410c.360G>A (p.Lys120=)
n.2531G>A
n.419G>A
n.476G>A
c.237G>A (p.Lys79=)
c.435G>A (p.Lys145=)
c.36G>A (p.Lys12=)
n.563G>A
c.564G>A (p.Lys188=)
c.309G>A (p.Lys103=)
n.570G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.44333047T>ACA410456191CFAP410c.359A>T (p.Lys120Met)
n.2530A>T
n.418A>T
n.475A>T
c.236A>T (p.Lys79Met)
c.434A>T (p.Lys145Met)
c.35A>T (p.Lys12Met)
n.562A>T
c.563A>T (p.Lys188Met)
c.308A>T (p.Lys103Met)
n.569A>T
21g.44333047T>CCA410456192CFAP410c.359A>G (p.Lys120Arg)
n.2530A>G
n.418A>G
n.475A>G
c.236A>G (p.Lys79Arg)
c.434A>G (p.Lys145Arg)
c.35A>G (p.Lys12Arg)
n.562A>G
c.563A>G (p.Lys188Arg)
c.308A>G (p.Lys103Arg)
n.569A>G
 gnomAD v4
21g.44333047T>GCA410456194CFAP410c.359A>C (p.Lys120Thr)
n.2530A>C
n.418A>C
n.475A>C
c.236A>C (p.Lys79Thr)
c.434A>C (p.Lys145Thr)
c.35A>C (p.Lys12Thr)
n.562A>C
c.563A>C (p.Lys188Thr)
c.308A>C (p.Lys103Thr)
n.569A>C
21g.44333048T>ACA410456199CFAP410c.358A>T (p.Lys120Ter)
n.2529A>T
n.417A>T
n.474A>T
c.235A>T (p.Lys79Ter)
c.433A>T (p.Lys145Ter)
c.34A>T (p.Lys12Ter)
n.561A>T
c.562A>T (p.Lys188Ter)
c.307A>T (p.Lys103Ter)
n.568A>T
21g.44333048T>CCA410456198CFAP410c.358A>G (p.Lys120Glu)
n.2529A>G
n.417A>G
n.474A>G
c.235A>G (p.Lys79Glu)
c.433A>G (p.Lys145Glu)
c.34A>G (p.Lys12Glu)
n.561A>G
c.562A>G (p.Lys188Glu)
c.307A>G (p.Lys103Glu)
n.568A>G
21g.44333048T>GCA410456196CFAP410c.358A>C (p.Lys120Gln)
n.2529A>C
n.417A>C
n.474A>C
c.235A>C (p.Lys79Gln)
c.433A>C (p.Lys145Gln)
c.34A>C (p.Lys12Gln)
n.561A>C
c.562A>C (p.Lys188Gln)
c.307A>C (p.Lys103Gln)
n.568A>C
21g.44333049C>ACA410456200CFAP410c.357G>T (p.Gln119His)
n.2528G>T
n.416G>T
n.473G>T
c.234G>T (p.Gln78His)
c.432G>T (p.Gln144His)
c.33G>T (p.Gln11His)
n.560G>T
c.561G>T (p.Gln187His)
c.306G>T (p.Gln102His)
n.567G>T
21g.44333049C=CA2391590911CFAP410c.357G= (p.Gln119=)
n.2528G=
n.416G=
n.473G=
c.234G= (p.Gln78=)
c.432G= (p.Gln144=)
c.33G= (p.Gln11=)
n.560G=
c.561G= (p.Gln187=)
c.306G= (p.Gln102=)
n.567G=
21g.44333049C>GCA410456202CFAP410c.357G>C (p.Gln119His)
n.2528G>C
n.416G>C
n.473G>C
c.234G>C (p.Gln78His)
c.432G>C (p.Gln144His)
c.33G>C (p.Gln11His)
n.560G>C
c.561G>C (p.Gln187His)
c.306G>C (p.Gln102His)
n.567G>C
21g.44333049C>TCA512670829CFAP410c.357G>A (p.Gln119=)
n.2528G>A
n.416G>A
n.473G>A
c.234G>A (p.Gln78=)
c.432G>A (p.Gln144=)
c.33G>A (p.Gln11=)
n.560G>A
c.561G>A (p.Gln187=)
c.306G>A (p.Gln102=)
n.567G>A
 dbSNP gnomAD v2 gnomAD v4
21g.44333050T>ACA410456205CFAP410c.356A>T (p.Gln119Leu)
n.2527A>T
n.415A>T
n.472A>T
c.233A>T (p.Gln78Leu)
c.431A>T (p.Gln144Leu)
c.32A>T (p.Gln11Leu)
n.559A>T
c.560A>T (p.Gln187Leu)
c.305A>T (p.Gln102Leu)
n.566A>T
21g.44333050T>CCA410456206CFAP410c.356A>G (p.Gln119Arg)
n.2527A>G
n.415A>G
n.472A>G
c.233A>G (p.Gln78Arg)
c.431A>G (p.Gln144Arg)
c.32A>G (p.Gln11Arg)
n.559A>G
c.560A>G (p.Gln187Arg)
c.305A>G (p.Gln102Arg)
n.566A>G
 dbSNP gnomAD v2 gnomAD v4
21g.44333050T>GCA410456208CFAP410c.356A>C (p.Gln119Pro)
n.2527A>C
n.415A>C
n.472A>C
c.233A>C (p.Gln78Pro)
c.431A>C (p.Gln144Pro)
c.32A>C (p.Gln11Pro)
n.559A>C
c.560A>C (p.Gln187Pro)
c.305A>C (p.Gln102Pro)
n.566A>C
21g.44333050T=CA2391590912CFAP410c.356A= (p.Gln119=)
n.2527A=
n.415A=
n.472A=
c.233A= (p.Gln78=)
c.431A= (p.Gln144=)
c.32A= (p.Gln11=)
n.559A=
c.560A= (p.Gln187=)
c.305A= (p.Gln102=)
n.566A=
21g.44333051G>ACA410456210CFAP410c.355C>T (p.Gln119Ter)
n.2526C>T
n.414C>T
n.471C>T
c.232C>T (p.Gln78Ter)
c.430C>T (p.Gln144Ter)
c.31C>T (p.Gln11Ter)
n.558C>T
c.559C>T (p.Gln187Ter)
c.304C>T (p.Gln102Ter)
n.565C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333051G>CCA410456212CFAP410c.355C>G (p.Gln119Glu)
n.2526C>G
n.414C>G
n.471C>G
c.232C>G (p.Gln78Glu)
c.430C>G (p.Gln144Glu)
c.31C>G (p.Gln11Glu)
n.558C>G
c.559C>G (p.Gln187Glu)
c.304C>G (p.Gln102Glu)
n.565C>G
21g.44333051G=CA2391590913CFAP410c.355C= (p.Gln119=)
n.2526C=
n.414C=
n.471C=
c.232C= (p.Gln78=)
c.430C= (p.Gln144=)
c.31C= (p.Gln11=)
n.558C=
c.559C= (p.Gln187=)
c.304C= (p.Gln102=)
n.565C=
21g.44333051G>TCA410456213CFAP410c.355C>A (p.Gln119Lys)
n.2526C>A
n.414C>A
n.471C>A
c.232C>A (p.Gln78Lys)
c.430C>A (p.Gln144Lys)
c.31C>A (p.Gln11Lys)
n.558C>A
c.559C>A (p.Gln187Lys)
c.304C>A (p.Gln102Lys)
n.565C>A
 gnomAD v4
21g.44333052_44333054delCA2573157695CFAP410c.353_355del (p.Leu118del)
n.2524_2526del
n.412_414del
n.469_471del
c.230_232del (p.Leu77del)
c.428_430del (p.Leu143del)
c.29_31del (p.Leu10del)
n.556_558del
c.557_559del (p.Leu186del)
c.302_304del (p.Leu101del)
n.563_565del
 ClinVar dbSNP gnomAD v4
21g.44333052T>ACA512670830CFAP410c.354A>T (p.Leu118=)
n.2525A>T
n.413A>T
n.470A>T
c.231A>T (p.Leu77=)
c.429A>T (p.Leu143=)
c.30A>T (p.Leu10=)
n.557A>T
c.558A>T (p.Leu186=)
c.303A>T (p.Leu101=)
n.564A>T
21g.44333052T>CCA512670831CFAP410c.354A>G (p.Leu118=)
n.2525A>G
n.413A>G
n.470A>G
c.231A>G (p.Leu77=)
c.429A>G (p.Leu143=)
c.30A>G (p.Leu10=)
n.557A>G
c.558A>G (p.Leu186=)
c.303A>G (p.Leu101=)
n.564A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44333052T>GCA512670832CFAP410c.354A>C (p.Leu118=)
n.2525A>C
n.413A>C
n.470A>C
c.231A>C (p.Leu77=)
c.429A>C (p.Leu143=)
c.30A>C (p.Leu10=)
n.557A>C
c.558A>C (p.Leu186=)
c.303A>C (p.Leu101=)
n.564A>C
21g.44333052T=CA2391590914CFAP410c.354A= (p.Leu118=)
n.2525A=
n.413A=
n.470A=
c.231A= (p.Leu77=)
c.429A= (p.Leu143=)
c.30A= (p.Leu10=)
n.557A=
c.558A= (p.Leu186=)
c.303A= (p.Leu101=)
n.564A=
21g.44333053A>CCA410456215CFAP410c.353T>G (p.Leu118Arg)
n.2524T>G
n.412T>G
n.469T>G
c.230T>G (p.Leu77Arg)
c.428T>G (p.Leu143Arg)
c.29T>G (p.Leu10Arg)
n.556T>G
c.557T>G (p.Leu186Arg)
c.302T>G (p.Leu101Arg)
n.563T>G
21g.44333053A>GCA410456216CFAP410c.353T>C (p.Leu118Pro)
n.2524T>C
n.412T>C
n.469T>C
c.230T>C (p.Leu77Pro)
c.428T>C (p.Leu143Pro)
c.29T>C (p.Leu10Pro)
n.556T>C
c.557T>C (p.Leu186Pro)
c.302T>C (p.Leu101Pro)
n.563T>C
 gnomAD v4
21g.44333053A>TCA410456218CFAP410c.353T>A (p.Leu118Gln)
n.2524T>A
n.412T>A
n.469T>A
c.230T>A (p.Leu77Gln)
c.428T>A (p.Leu143Gln)
c.29T>A (p.Leu10Gln)
n.556T>A
c.557T>A (p.Leu186Gln)
c.302T>A (p.Leu101Gln)
n.563T>A
21g.44333054G>ACA512670833CFAP410c.352C>T (p.Leu118=)
n.2523C>T
n.411C>T
n.468C>T
c.229C>T (p.Leu77=)
c.427C>T (p.Leu143=)
c.28C>T (p.Leu10=)
n.555C>T
c.556C>T (p.Leu186=)
c.301C>T (p.Leu101=)
n.562C>T
 gnomAD v2
21g.44333054G>CCA410456224CFAP410c.352C>G (p.Leu118Val)
n.2523C>G
n.411C>G
n.468C>G
c.229C>G (p.Leu77Val)
c.427C>G (p.Leu143Val)
c.28C>G (p.Leu10Val)
n.555C>G
c.556C>G (p.Leu186Val)
c.301C>G (p.Leu101Val)
n.562C>G
21g.44333054G=CA2391590915CFAP410c.352C= (p.Leu118=)
n.2523C=
n.411C=
n.468C=
c.229C= (p.Leu77=)
c.427C= (p.Leu143=)
c.28C= (p.Leu10=)
n.555C=
c.556C= (p.Leu186=)
c.301C= (p.Leu101=)
n.562C=
21g.44333054G>TCA410456222CFAP410c.352C>A (p.Leu118Ile)
n.2523C>A
n.411C>A
n.468C>A
c.229C>A (p.Leu77Ile)
c.427C>A (p.Leu143Ile)
c.28C>A (p.Leu10Ile)
n.555C>A
c.556C>A (p.Leu186Ile)
c.301C>A (p.Leu101Ile)
n.562C>A
 gnomAD v4
21g.44333054_44333055insCGCGGCAGGGTGCA2695230204CFAP410c.352_353insACCCTGCCGCGC (p.Arg117_Leu118insHisProAlaAla)
n.2523_2524insACCCTGCCGCGC
n.411_412insACCCTGCCGCGC
n.468_469insACCCTGCCGCGC
c.229_230insACCCTGCCGCGC (p.Arg76_Leu77insHisProAlaAla)
c.427_428insACCCTGCCGCGC (p.Arg142_Leu143insHisProAlaAla)
c.28_29insACCCTGCCGCGC (p.Arg9_Leu10insHisProAlaAla)
n.555_556insACCCTGCCGCGC
c.556_557insACCCTGCCGCGC (p.Arg185_Leu186insHisProAlaAla)
c.301_302insACCCTGCCGCGC (p.Arg100_Leu101insHisProAlaAla)
n.562_563insACCCTGCCGCGC
21g.44333055G>ACA321784768CFAP410c.351C>T (p.Arg117=)
n.2522C>T
n.410C>T
n.467C>T
c.228C>T (p.Arg76=)
c.426C>T (p.Arg142=)
c.27C>T (p.Arg9=)
n.554C>T
c.555C>T (p.Arg185=)
c.300C>T (p.Arg100=)
n.561C>T
 ClinVar dbSNP gnomAD v4
21g.44333055G>CCA512670835CFAP410c.351C>G (p.Arg117=)
n.2522C>G
n.410C>G
n.467C>G
c.228C>G (p.Arg76=)
c.426C>G (p.Arg142=)
c.27C>G (p.Arg9=)
n.554C>G
c.555C>G (p.Arg185=)
c.300C>G (p.Arg100=)
n.561C>G
21g.44333055G=CA2391590916CFAP410c.351C= (p.Arg117=)
n.2522C=
n.410C=
n.467C=
c.228C= (p.Arg76=)
c.426C= (p.Arg142=)
c.27C= (p.Arg9=)
n.554C=
c.555C= (p.Arg185=)
c.300C= (p.Arg100=)
n.561C=
21g.44333055G>TCA512670834CFAP410c.351C>A (p.Arg117=)
n.2522C>A
n.410C>A
n.467C>A
c.228C>A (p.Arg76=)
c.426C>A (p.Arg142=)
c.27C>A (p.Arg9=)
n.554C>A
c.555C>A (p.Arg185=)
c.300C>A (p.Arg100=)
n.561C>A
21g.44333059_44333070dupCA638494153CFAP410c.340_351dup (p.Arg117_Leu118insThrLeuProArg)
n.2511_2522dup
n.399_410dup
n.456_467dup
c.217_228dup (p.Arg76_Leu77insThrLeuProArg)
c.415_426dup (p.Arg142_Leu143insThrLeuProArg)
c.16_27dup (p.Arg9_Leu10insThrLeuProArg)
n.543_554dup
c.544_555dup (p.Arg185_Leu186insThrLeuProArg)
c.289_300dup (p.Arg100_Leu101insThrLeuProArg)
n.550_561dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333056C>ACA410456226CFAP410c.350G>T (p.Arg117Leu)
n.2521G>T
n.409G>T
n.466G>T
c.227G>T (p.Arg76Leu)
c.425G>T (p.Arg142Leu)
c.26G>T (p.Arg9Leu)
n.553G>T
c.554G>T (p.Arg185Leu)
c.299G>T (p.Arg100Leu)
n.560G>T
21g.44333056C=CA2391590917CFAP410c.350G= (p.Arg117=)
n.2521G=
n.409G=
n.466G=
c.227G= (p.Arg76=)
c.425G= (p.Arg142=)
c.26G= (p.Arg9=)
n.553G=
c.554G= (p.Arg185=)
c.299G= (p.Arg100=)
n.560G=
21g.44333056C>GCA321784770CFAP410c.350G>C (p.Arg117Pro)
n.2521G>C
n.409G>C
n.466G>C
c.227G>C (p.Arg76Pro)
c.425G>C (p.Arg142Pro)
c.26G>C (p.Arg9Pro)
n.553G>C
c.554G>C (p.Arg185Pro)
c.299G>C (p.Arg100Pro)
n.560G>C
 dbSNP gnomAD v4
21g.44333056C>TCA10053714CFAP410c.350G>A (p.Arg117His)
n.2521G>A
n.409G>A
n.466G>A
c.227G>A (p.Arg76His)
c.425G>A (p.Arg142His)
c.26G>A (p.Arg9His)
n.553G>A
c.554G>A (p.Arg185His)
c.299G>A (p.Arg100His)
n.560G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333057G>ACA10053715CFAP410c.349C>T (p.Arg117Cys)
n.2520C>T
n.408C>T
n.465C>T
c.226C>T (p.Arg76Cys)
c.424C>T (p.Arg142Cys)
c.25C>T (p.Arg9Cys)
n.552C>T
c.553C>T (p.Arg185Cys)
c.298C>T (p.Arg100Cys)
n.559C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333057G>CCA410456230CFAP410c.349C>G (p.Arg117Gly)
n.2520C>G
n.408C>G
n.465C>G
c.226C>G (p.Arg76Gly)
c.424C>G (p.Arg142Gly)
c.25C>G (p.Arg9Gly)
n.552C>G
c.553C>G (p.Arg185Gly)
c.298C>G (p.Arg100Gly)
n.559C>G
21g.44333057G=CA2391590918CFAP410c.349C= (p.Arg117=)
n.2520C=
n.408C=
n.465C=
c.226C= (p.Arg76=)
c.424C= (p.Arg142=)
c.25C= (p.Arg9=)
n.552C=
c.553C= (p.Arg185=)
c.298C= (p.Arg100=)
n.559C=
21g.44333057G>TCA410456234CFAP410c.349C>A (p.Arg117Ser)
n.2520C>A
n.408C>A
n.465C>A
c.226C>A (p.Arg76Ser)
c.424C>A (p.Arg142Ser)
c.25C>A (p.Arg9Ser)
n.552C>A
c.553C>A (p.Arg185Ser)
c.298C>A (p.Arg100Ser)
n.559C>A
 gnomAD v4
21g.44333058C>ACA512670836CFAP410c.348G>T (p.Pro116=)
n.2519G>T
n.407G>T
n.464G>T
c.225G>T (p.Pro75=)
c.423G>T (p.Pro141=)
c.24G>T (p.Pro8=)
n.551G>T
c.552G>T (p.Pro184=)
c.297G>T (p.Pro99=)
n.558G>T
 gnomAD v4
21g.44333058C=CA2391590919CFAP410c.348G= (p.Pro116=)
n.2519G=
n.407G=
n.464G=
c.225G= (p.Pro75=)
c.423G= (p.Pro141=)
c.24G= (p.Pro8=)
n.551G=
c.552G= (p.Pro184=)
c.297G= (p.Pro99=)
n.558G=
21g.44333058C>GCA512670837CFAP410c.348G>C (p.Pro116=)
n.2519G>C
n.407G>C
n.464G>C
c.225G>C (p.Pro75=)
c.423G>C (p.Pro141=)
c.24G>C (p.Pro8=)
n.551G>C
c.552G>C (p.Pro184=)
c.297G>C (p.Pro99=)
n.558G>C
21g.44333058C>TCA512670838CFAP410c.348G>A (p.Pro116=)
n.2519G>A
n.407G>A
n.464G>A
c.225G>A (p.Pro75=)
c.423G>A (p.Pro141=)
c.24G>A (p.Pro8=)
n.551G>A
c.552G>A (p.Pro184=)
c.297G>A (p.Pro99=)
n.558G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333059G>ACA10053716CFAP410c.347C>T (p.Pro116Leu)
n.2518C>T
n.406C>T
n.463C>T
c.224C>T (p.Pro75Leu)
c.422C>T (p.Pro141Leu)
c.23C>T (p.Pro8Leu)
n.550C>T
c.551C>T (p.Pro184Leu)
c.296C>T (p.Pro99Leu)
n.557C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44333059G>CCA410456238CFAP410c.347C>G (p.Pro116Arg)
n.2518C>G
n.406C>G
n.463C>G
c.224C>G (p.Pro75Arg)
c.422C>G (p.Pro141Arg)
c.23C>G (p.Pro8Arg)
n.550C>G
c.551C>G (p.Pro184Arg)
c.296C>G (p.Pro99Arg)
n.557C>G
21g.44333059G=CA2391590920CFAP410c.347C= (p.Pro116=)
n.2518C=
n.406C=
n.463C=
c.224C= (p.Pro75=)
c.422C= (p.Pro141=)
c.23C= (p.Pro8=)
n.550C=
c.551C= (p.Pro184=)
c.296C= (p.Pro99=)
n.557C=
21g.44333059G>TCA410456240CFAP410c.347C>A (p.Pro116Gln)
n.2518C>A
n.406C>A
n.463C>A
c.224C>A (p.Pro75Gln)
c.422C>A (p.Pro141Gln)
c.23C>A (p.Pro8Gln)
n.550C>A
c.551C>A (p.Pro184Gln)
c.296C>A (p.Pro99Gln)
n.557C>A
 gnomAD v4
21g.44333059_44333071delinsGGCAGGGTGCGCACA2391590921CFAP410c.335_347delinsTGCGCACCCTGCC (p.Leu112=)
n.2506_2518delinsTGCGCACCCTGCC
n.394_406delinsTGCGCACCCTGCC
n.451_463delinsTGCGCACCCTGCC
c.212_224delinsTGCGCACCCTGCC (p.Leu71=)
c.410_422delinsTGCGCACCCTGCC (p.Leu137=)
c.11_23delinsTGCGCACCCTGCC (p.Leu4=)
n.538_550delinsTGCGCACCCTGCC
c.539_551delinsTGCGCACCCTGCC (p.Leu180=)
c.284_296delinsTGCGCACCCTGCC (p.Leu95=)
n.545_557delinsTGCGCACCCTGCC
21g.44333060G>ACA410456242CFAP410c.346C>T (p.Pro116Ser)
n.2517C>T
n.405C>T
n.462C>T
c.223C>T (p.Pro75Ser)
c.421C>T (p.Pro141Ser)
c.22C>T (p.Pro8Ser)
n.549C>T
c.550C>T (p.Pro184Ser)
c.295C>T (p.Pro99Ser)
n.556C>T
 gnomAD v4
21g.44333060G>CCA410456245CFAP410c.346C>G (p.Pro116Ala)
n.2517C>G
n.405C>G
n.462C>G
c.223C>G (p.Pro75Ala)
c.421C>G (p.Pro141Ala)
c.22C>G (p.Pro8Ala)
n.549C>G
c.550C>G (p.Pro184Ala)
c.295C>G (p.Pro99Ala)
n.556C>G
21g.44333060G>TCA410456247CFAP410c.346C>A (p.Pro116Thr)
n.2517C>A
n.405C>A
n.462C>A
c.223C>A (p.Pro75Thr)
c.421C>A (p.Pro141Thr)
c.22C>A (p.Pro8Thr)
n.549C>A
c.550C>A (p.Pro184Thr)
c.295C>A (p.Pro99Thr)
n.556C>A
 gnomAD v4
21g.44333063_44333074delCA10053717CFAP410c.335_346del (p.Leu112_Leu115del)
n.2506_2517del
n.394_405del
n.451_462del
c.212_223del (p.Leu71_Leu74del)
c.410_421del (p.Leu137_Leu140del)
c.11_22del (p.Leu4_Leu7del)
n.538_549del
c.539_550del (p.Leu180_Leu183del)
c.284_295del (p.Leu95_Leu98del)
n.545_556del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333061C>ACA512670839CFAP410c.345G>T (p.Leu115=)
n.2516G>T
n.404G>T
n.461G>T
c.222G>T (p.Leu74=)
c.420G>T (p.Leu140=)
c.21G>T (p.Leu7=)
n.548G>T
c.549G>T (p.Leu183=)
c.294G>T (p.Leu98=)
n.555G>T
 gnomAD v4
21g.44333061C>GCA512670840CFAP410c.345G>C (p.Leu115=)
n.2516G>C
n.404G>C
n.461G>C
c.222G>C (p.Leu74=)
c.420G>C (p.Leu140=)
c.21G>C (p.Leu7=)
n.548G>C
c.549G>C (p.Leu183=)
c.294G>C (p.Leu98=)
n.555G>C
21g.44333061C>TCA512670841CFAP410c.345G>A (p.Leu115=)
n.2516G>A
n.404G>A
n.461G>A
c.222G>A (p.Leu74=)
c.420G>A (p.Leu140=)
c.21G>A (p.Leu7=)
n.548G>A
c.549G>A (p.Leu183=)
c.294G>A (p.Leu98=)
n.555G>A
 gnomAD v4
21g.44333062A=CA2391590922CFAP410c.344T= (p.Leu115=)
n.2515T=
n.403T=
n.460T=
c.221T= (p.Leu74=)
c.419T= (p.Leu140=)
c.20T= (p.Leu7=)
n.547T=
c.548T= (p.Leu183=)
c.293T= (p.Leu98=)
n.554T=
21g.44333062A>CCA410456261CFAP410c.344T>G (p.Leu115Arg)
n.2515T>G
n.403T>G
n.460T>G
c.221T>G (p.Leu74Arg)
c.419T>G (p.Leu140Arg)
c.20T>G (p.Leu7Arg)
n.547T>G
c.548T>G (p.Leu183Arg)
c.293T>G (p.Leu98Arg)
n.554T>G
21g.44333062A>GCA410456257CFAP410c.344T>C (p.Leu115Pro)
n.2515T>C
n.403T>C
n.460T>C
c.221T>C (p.Leu74Pro)
c.419T>C (p.Leu140Pro)
c.20T>C (p.Leu7Pro)
n.547T>C
c.548T>C (p.Leu183Pro)
c.293T>C (p.Leu98Pro)
n.554T>C
 dbSNP gnomAD v2
21g.44333062A>TCA410456259CFAP410c.344T>A (p.Leu115Gln)
n.2515T>A
n.403T>A
n.460T>A
c.221T>A (p.Leu74Gln)
c.419T>A (p.Leu140Gln)
c.20T>A (p.Leu7Gln)
n.547T>A
c.548T>A (p.Leu183Gln)
c.293T>A (p.Leu98Gln)
n.554T>A
21g.44333063G>ACA512670842CFAP410c.343C>T (p.Leu115=)
n.2514C>T
n.402C>T
n.459C>T
c.220C>T (p.Leu74=)
c.418C>T (p.Leu140=)
c.19C>T (p.Leu7=)
n.546C>T
c.547C>T (p.Leu183=)
c.292C>T (p.Leu98=)
n.553C>T
21g.44333063G>CCA10053718CFAP410c.343C>G (p.Leu115Val)
n.2514C>G
n.402C>G
n.459C>G
c.220C>G (p.Leu74Val)
c.418C>G (p.Leu140Val)
c.19C>G (p.Leu7Val)
n.546C>G
c.547C>G (p.Leu183Val)
c.292C>G (p.Leu98Val)
n.553C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333063G=CA2391590923CFAP410c.343C= (p.Leu115=)
n.2514C=
n.402C=
n.459C=
c.220C= (p.Leu74=)
c.418C= (p.Leu140=)
c.19C= (p.Leu7=)
n.546C=
c.547C= (p.Leu183=)
c.292C= (p.Leu98=)
n.553C=
21g.44333063G>TCA410456262CFAP410c.343C>A (p.Leu115Met)
n.2514C>A
n.402C>A
n.459C>A
c.220C>A (p.Leu74Met)
c.418C>A (p.Leu140Met)
c.19C>A (p.Leu7Met)
n.546C>A
c.547C>A (p.Leu183Met)
c.292C>A (p.Leu98Met)
n.553C>A
 gnomAD v4
21g.44333064G>ACA512670843CFAP410c.342C>T (p.Thr114=)
n.2513C>T
n.401C>T
n.458C>T
c.219C>T (p.Thr73=)
c.417C>T (p.Thr139=)
c.18C>T (p.Thr6=)
n.545C>T
c.546C>T (p.Thr182=)
c.291C>T (p.Thr97=)
n.552C>T
 gnomAD v4
21g.44333064G>CCA512670844CFAP410c.342C>G (p.Thr114=)
n.2513C>G
n.401C>G
n.458C>G
c.219C>G (p.Thr73=)
c.417C>G (p.Thr139=)
c.18C>G (p.Thr6=)
n.545C>G
c.546C>G (p.Thr182=)
c.291C>G (p.Thr97=)
n.552C>G
 dbSNP
21g.44333064G>TCA512670845CFAP410c.342C>A (p.Thr114=)
n.2513C>A
n.401C>A
n.458C>A
c.219C>A (p.Thr73=)
c.417C>A (p.Thr139=)
c.18C>A (p.Thr6=)
n.545C>A
c.546C>A (p.Thr182=)
c.291C>A (p.Thr97=)
n.552C>A
21g.44333067_44333078dupCA2573102945CFAP410c.331_342dup (p.Thr114_Leu115insValLeuArgThr)
n.2502_2513dup
n.390_401dup
n.447_458dup
c.208_219dup (p.Thr73_Leu74insValLeuArgThr)
c.406_417dup (p.Thr139_Leu140insValLeuArgThr)
c.7_18dup (p.Thr6_Leu7insValLeuArgThr)
n.534_545dup
c.535_546dup (p.Thr182_Leu183insValLeuArgThr)
c.280_291dup (p.Thr97_Leu98insValLeuArgThr)
n.541_552dup
 ClinVar
21g.44333065G>ACA410456264CFAP410c.341C>T (p.Thr114Ile)
n.2512C>T
n.400C>T
n.457C>T
c.218C>T (p.Thr73Ile)
c.416C>T (p.Thr139Ile)
c.17C>T (p.Thr6Ile)
n.544C>T
c.545C>T (p.Thr182Ile)
c.290C>T (p.Thr97Ile)
n.551C>T
21g.44333065G>CCA410456267CFAP410c.341C>G (p.Thr114Ser)
n.2512C>G
n.400C>G
n.457C>G
c.218C>G (p.Thr73Ser)
c.416C>G (p.Thr139Ser)
c.17C>G (p.Thr6Ser)
n.544C>G
c.545C>G (p.Thr182Ser)
c.290C>G (p.Thr97Ser)
n.551C>G
21g.44333065G=CA2391590924CFAP410c.341C= (p.Thr114=)
n.2512C=
n.400C=
n.457C=
c.218C= (p.Thr73=)
c.416C= (p.Thr139=)
c.17C= (p.Thr6=)
n.544C=
c.545C= (p.Thr182=)
c.290C= (p.Thr97=)
n.551C=
21g.44333065G>TCA410456268CFAP410c.341C>A (p.Thr114Asn)
n.2512C>A
n.400C>A
n.457C>A
c.218C>A (p.Thr73Asn)
c.416C>A (p.Thr139Asn)
c.17C>A (p.Thr6Asn)
n.544C>A
c.545C>A (p.Thr182Asn)
c.290C>A (p.Thr97Asn)
n.551C>A
 dbSNP gnomAD v2 gnomAD v4
21g.44333066T>ACA410456269CFAP410c.340A>T (p.Thr114Ser)
n.2511A>T
n.399A>T
n.456A>T
c.217A>T (p.Thr73Ser)
c.415A>T (p.Thr139Ser)
c.16A>T (p.Thr6Ser)
n.543A>T
c.544A>T (p.Thr182Ser)
c.289A>T (p.Thr97Ser)
n.550A>T
21g.44333066T>CCA410456270CFAP410c.340A>G (p.Thr114Ala)
n.2511A>G
n.399A>G
n.456A>G
c.217A>G (p.Thr73Ala)
c.415A>G (p.Thr139Ala)
c.16A>G (p.Thr6Ala)
n.543A>G
c.544A>G (p.Thr182Ala)
c.289A>G (p.Thr97Ala)
n.550A>G
21g.44333066T>GCA10053719CFAP410c.340A>C (p.Thr114Pro)
n.2511A>C
n.399A>C
n.456A>C
c.217A>C (p.Thr73Pro)
c.415A>C (p.Thr139Pro)
c.16A>C (p.Thr6Pro)
n.543A>C
c.544A>C (p.Thr182Pro)
c.289A>C (p.Thr97Pro)
n.550A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333066T=CA2391590925CFAP410c.340A= (p.Thr114=)
n.2511A=
n.399A=
n.456A=
c.217A= (p.Thr73=)
c.415A= (p.Thr139=)
c.16A= (p.Thr6=)
n.543A=
c.544A= (p.Thr182=)
c.289A= (p.Thr97=)
n.550A=
21g.44333067G>ACA10053720CFAP410c.339C>T (p.Arg113=)
n.2510C>T
n.398C>T
n.455C>T
c.216C>T (p.Arg72=)
c.414C>T (p.Arg138=)
c.15C>T (p.Arg5=)
n.542C>T
c.543C>T (p.Arg181=)
c.288C>T (p.Arg96=)
n.549C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333067G>CCA512670846CFAP410c.339C>G (p.Arg113=)
n.2510C>G
n.398C>G
n.455C>G
c.216C>G (p.Arg72=)
c.414C>G (p.Arg138=)
c.15C>G (p.Arg5=)
n.542C>G
c.543C>G (p.Arg181=)
c.288C>G (p.Arg96=)
n.549C>G
21g.44333067G=CA2391590926CFAP410c.339C= (p.Arg113=)
n.2510C=
n.398C=
n.455C=
c.216C= (p.Arg72=)
c.414C= (p.Arg138=)
c.15C= (p.Arg5=)
n.542C=
c.543C= (p.Arg181=)
c.288C= (p.Arg96=)
n.549C=
21g.44333067G>TCA512670847CFAP410c.339C>A (p.Arg113=)
n.2510C>A
n.398C>A
n.455C>A
c.216C>A (p.Arg72=)
c.414C>A (p.Arg138=)
c.15C>A (p.Arg5=)
n.542C>A
c.543C>A (p.Arg181=)
c.288C>A (p.Arg96=)
n.549C>A
 gnomAD v4
21g.44333068C>ACA410456277CFAP410c.338G>T (p.Arg113Leu)
n.2509G>T
n.397G>T
n.454G>T
c.215G>T (p.Arg72Leu)
c.413G>T (p.Arg138Leu)
c.14G>T (p.Arg5Leu)
n.541G>T
c.542G>T (p.Arg181Leu)
c.287G>T (p.Arg96Leu)
n.548G>T
 gnomAD v4
21g.44333068C=CA2391590927CFAP410c.338G= (p.Arg113=)
n.2509G=
n.397G=
n.454G=
c.215G= (p.Arg72=)
c.413G= (p.Arg138=)
c.14G= (p.Arg5=)
n.541G=
c.542G= (p.Arg181=)
c.287G= (p.Arg96=)
n.548G=
21g.44333068C>GCA410456278CFAP410c.338G>C (p.Arg113Pro)
n.2509G>C
n.397G>C
n.454G>C
c.215G>C (p.Arg72Pro)
c.413G>C (p.Arg138Pro)
c.14G>C (p.Arg5Pro)
n.541G>C
c.542G>C (p.Arg181Pro)
c.287G>C (p.Arg96Pro)
n.548G>C
 gnomAD v4
21g.44333068C>TCA10053721CFAP410c.338G>A (p.Arg113His)
n.2509G>A
n.397G>A
n.454G>A
c.215G>A (p.Arg72His)
c.413G>A (p.Arg138His)
c.14G>A (p.Arg5His)
n.541G>A
c.542G>A (p.Arg181His)
c.287G>A (p.Arg96His)
n.548G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333078_44333114delCA2654807896CFAP410c.302_338del (p.Gly101AlafsTer14)
n.2473_2509del
n.361_397del
n.418_454del
c.179_215del (p.Gly60AlafsTer14)
c.377_413del (p.Gly126AlafsTer14)
c.-23_14del
n.505_541del
c.506_542del (p.Gly169AlafsTer14)
c.251_287del (p.Gly84AlafsTer14)
n.512_548del
 gnomAD v4
21g.44333069G>ACA10053722CFAP410c.337C>T (p.Arg113Cys)
n.2508C>T
n.396C>T
n.453C>T
c.214C>T (p.Arg72Cys)
c.412C>T (p.Arg138Cys)
c.13C>T (p.Arg5Cys)
n.540C>T
c.541C>T (p.Arg181Cys)
c.286C>T (p.Arg96Cys)
n.547C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333069G>CCA410456286CFAP410c.337C>G (p.Arg113Gly)
n.2508C>G
n.396C>G
n.453C>G
c.214C>G (p.Arg72Gly)
c.412C>G (p.Arg138Gly)
c.13C>G (p.Arg5Gly)
n.540C>G
c.541C>G (p.Arg181Gly)
c.286C>G (p.Arg96Gly)
n.547C>G
 gnomAD v4
21g.44333069G=CA2391590928CFAP410c.337C= (p.Arg113=)
n.2508C=
n.396C=
n.453C=
c.214C= (p.Arg72=)
c.412C= (p.Arg138=)
c.13C= (p.Arg5=)
n.540C=
c.541C= (p.Arg181=)
c.286C= (p.Arg96=)
n.547C=
21g.44333069G>TCA410456284CFAP410c.337C>A (p.Arg113Ser)
n.2508C>A
n.396C>A
n.453C>A
c.214C>A (p.Arg72Ser)
c.412C>A (p.Arg138Ser)
c.13C>A (p.Arg5Ser)
n.540C>A
c.541C>A (p.Arg181Ser)
c.286C>A (p.Arg96Ser)
n.547C>A
 dbSNP gnomAD v4
21g.44333070C>ACA512670849CFAP410c.336G>T (p.Leu112=)
n.2507G>T
n.395G>T
n.452G>T
c.213G>T (p.Leu71=)
c.411G>T (p.Leu137=)
c.12G>T (p.Leu4=)
n.539G>T
c.540G>T (p.Leu180=)
c.285G>T (p.Leu95=)
n.546G>T
21g.44333070C>GCA512670850CFAP410c.336G>C (p.Leu112=)
n.2507G>C
n.395G>C
n.452G>C
c.213G>C (p.Leu71=)
c.411G>C (p.Leu137=)
c.12G>C (p.Leu4=)
n.539G>C
c.540G>C (p.Leu180=)
c.285G>C (p.Leu95=)
n.546G>C
21g.44333070C>TCA512670851CFAP410c.336G>A (p.Leu112=)
n.2507G>A
n.395G>A
n.452G>A
c.213G>A (p.Leu71=)
c.411G>A (p.Leu137=)
c.12G>A (p.Leu4=)
n.539G>A
c.540G>A (p.Leu180=)
c.285G>A (p.Leu95=)
n.546G>A
 COSMIC
21g.44333071A=CA2391590929CFAP410c.335T= (p.Leu112=)
n.2506T=
n.394T=
n.451T=
c.212T= (p.Leu71=)
c.410T= (p.Leu137=)
c.11T= (p.Leu4=)
n.538T=
c.539T= (p.Leu180=)
c.284T= (p.Leu95=)
n.545T=
21g.44333071A>CCA410456287CFAP410c.335T>G (p.Leu112Arg)
n.2506T>G
n.394T>G
n.451T>G
c.212T>G (p.Leu71Arg)
c.410T>G (p.Leu137Arg)
c.11T>G (p.Leu4Arg)
n.538T>G
c.539T>G (p.Leu180Arg)
c.284T>G (p.Leu95Arg)
n.545T>G
21g.44333071A>GCA10053723CFAP410c.335T>C (p.Leu112Pro)
n.2506T>C
n.394T>C
n.451T>C
c.212T>C (p.Leu71Pro)
c.410T>C (p.Leu137Pro)
c.11T>C (p.Leu4Pro)
n.538T>C
c.539T>C (p.Leu180Pro)
c.284T>C (p.Leu95Pro)
n.545T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333071A>TCA410456290CFAP410c.335T>A (p.Leu112Gln)
n.2506T>A
n.394T>A
n.451T>A
c.212T>A (p.Leu71Gln)
c.410T>A (p.Leu137Gln)
c.11T>A (p.Leu4Gln)
n.538T>A
c.539T>A (p.Leu180Gln)
c.284T>A (p.Leu95Gln)
n.545T>A
21g.44333072G>ACA512670860CFAP410c.334C>T (p.Leu112=)
n.2505C>T
n.393C>T
n.450C>T
c.211C>T (p.Leu71=)
c.409C>T (p.Leu137=)
c.10C>T (p.Leu4=)
n.537C>T
c.538C>T (p.Leu180=)
c.283C>T (p.Leu95=)
n.544C>T
 dbSNP gnomAD v2 gnomAD v4
21g.44333072G>CCA410456295CFAP410c.334C>G (p.Leu112Val)
n.2505C>G
n.393C>G
n.450C>G
c.211C>G (p.Leu71Val)
c.409C>G (p.Leu137Val)
c.10C>G (p.Leu4Val)
n.537C>G
c.538C>G (p.Leu180Val)
c.283C>G (p.Leu95Val)
n.544C>G
21g.44333072G=CA2391590930CFAP410c.334C= (p.Leu112=)
n.2505C=
n.393C=
n.450C=
c.211C= (p.Leu71=)
c.409C= (p.Leu137=)
c.10C= (p.Leu4=)
n.537C=
c.538C= (p.Leu180=)
c.283C= (p.Leu95=)
n.544C=
21g.44333072G>TCA410456296CFAP410c.334C>A (p.Leu112Met)
n.2505C>A
n.393C>A
n.450C>A
c.211C>A (p.Leu71Met)
c.409C>A (p.Leu137Met)
c.10C>A (p.Leu4Met)
n.537C>A
c.538C>A (p.Leu180Met)
c.283C>A (p.Leu95Met)
n.544C>A
21g.44333073C>ACA512670862CFAP410c.333G>T (p.Val111=)
n.2504G>T
n.392G>T
n.449G>T
c.210G>T (p.Val70=)
c.408G>T (p.Val136=)
c.9G>T (p.Val3=)
n.536G>T
c.537G>T (p.Val179=)
c.282G>T (p.Val94=)
n.543G>T
21g.44333073C>GCA512670865CFAP410c.333G>C (p.Val111=)
n.2504G>C
n.392G>C
n.449G>C
c.210G>C (p.Val70=)
c.408G>C (p.Val136=)
c.9G>C (p.Val3=)
n.536G>C
c.537G>C (p.Val179=)
c.282G>C (p.Val94=)
n.543G>C
21g.44333073C>TCA512670863CFAP410c.333G>A (p.Val111=)
n.2504G>A
n.392G>A
n.449G>A
c.210G>A (p.Val70=)
c.408G>A (p.Val136=)
c.9G>A (p.Val3=)
n.536G>A
c.537G>A (p.Val179=)
c.282G>A (p.Val94=)
n.543G>A
21g.44333074A>CCA410456299CFAP410c.332T>G (p.Val111Gly)
n.2503T>G
n.391T>G
n.448T>G
c.209T>G (p.Val70Gly)
c.407T>G (p.Val136Gly)
c.8T>G (p.Val3Gly)
n.535T>G
c.536T>G (p.Val179Gly)
c.281T>G (p.Val94Gly)
n.542T>G
21g.44333074A>GCA410456298CFAP410c.332T>C (p.Val111Ala)
n.2503T>C
n.391T>C
n.448T>C
c.209T>C (p.Val70Ala)
c.407T>C (p.Val136Ala)
c.8T>C (p.Val3Ala)
n.535T>C
c.536T>C (p.Val179Ala)
c.281T>C (p.Val94Ala)
n.542T>C
 gnomAD v4
21g.44333074A>TCA410456297CFAP410c.332T>A (p.Val111Glu)
n.2503T>A
n.391T>A
n.448T>A
c.209T>A (p.Val70Glu)
c.407T>A (p.Val136Glu)
c.8T>A (p.Val3Glu)
n.535T>A
c.536T>A (p.Val179Glu)
c.281T>A (p.Val94Glu)
n.542T>A
21g.44333075C>ACA410456304CFAP410c.331G>T (p.Val111Leu)
n.2502G>T
n.390G>T
n.447G>T
c.208G>T (p.Val70Leu)
c.406G>T (p.Val136Leu)
c.7G>T (p.Val3Leu)
n.534G>T
c.535G>T (p.Val179Leu)
c.280G>T (p.Val94Leu)
n.541G>T
21g.44333075C=CA2391590931CFAP410c.331G= (p.Val111=)
n.2502G=
n.390G=
n.447G=
c.208G= (p.Val70=)
c.406G= (p.Val136=)
c.7G= (p.Val3=)
n.534G=
c.535G= (p.Val179=)
c.280G= (p.Val94=)
n.541G=
21g.44333075C>GCA321784791CFAP410c.331G>C (p.Val111Leu)
n.2502G>C
n.390G>C
n.447G>C
c.208G>C (p.Val70Leu)
c.406G>C (p.Val136Leu)
c.7G>C (p.Val3Leu)
n.534G>C
c.535G>C (p.Val179Leu)
c.280G>C (p.Val94Leu)
n.541G>C
 dbSNP gnomAD v3 gnomAD v4
21g.44333075C>TCA10053724CFAP410c.331G>A (p.Val111Met)
n.2502G>A
n.390G>A
n.447G>A
c.208G>A (p.Val70Met)
c.406G>A (p.Val136Met)
c.7G>A (p.Val3Met)
n.534G>A
c.535G>A (p.Val179Met)
c.280G>A (p.Val94Met)
n.541G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44333076G>ACA10053725CFAP410c.330C>T (p.Thr110=)
n.2501C>T
n.389C>T
n.446C>T
c.207C>T (p.Thr69=)
c.405C>T (p.Thr135=)
c.6C>T (p.Thr2=)
n.533C>T
c.534C>T (p.Thr178=)
c.279C>T (p.Thr93=)
n.540C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333076G>CCA512670870CFAP410c.330C>G (p.Thr110=)
n.2501C>G
n.389C>G
n.446C>G
c.207C>G (p.Thr69=)
c.405C>G (p.Thr135=)
c.6C>G (p.Thr2=)
n.533C>G
c.534C>G (p.Thr178=)
c.279C>G (p.Thr93=)
n.540C>G
 gnomAD v4
21g.44333076G=CA2391590932CFAP410c.330C= (p.Thr110=)
n.2501C=
n.389C=
n.446C=
c.207C= (p.Thr69=)
c.405C= (p.Thr135=)
c.6C= (p.Thr2=)
n.533C=
c.534C= (p.Thr178=)
c.279C= (p.Thr93=)
n.540C=
21g.44333076G>TCA512670872CFAP410c.330C>A (p.Thr110=)
n.2501C>A
n.389C>A
n.446C>A
c.207C>A (p.Thr69=)
c.405C>A (p.Thr135=)
c.6C>A (p.Thr2=)
n.533C>A
c.534C>A (p.Thr178=)
c.279C>A (p.Thr93=)
n.540C>A
 gnomAD v4
21g.44333077G>ACA410456313CFAP410c.329C>T (p.Thr110Ile)
n.2500C>T
n.388C>T
n.445C>T
c.206C>T (p.Thr69Ile)
c.404C>T (p.Thr135Ile)
c.5C>T (p.Thr2Ile)
n.532C>T
c.533C>T (p.Thr178Ile)
c.278C>T (p.Thr93Ile)
n.539C>T
21g.44333077G>CCA410456316CFAP410c.329C>G (p.Thr110Ser)
n.2500C>G
n.388C>G
n.445C>G
c.206C>G (p.Thr69Ser)
c.404C>G (p.Thr135Ser)
c.5C>G (p.Thr2Ser)
n.532C>G
c.533C>G (p.Thr178Ser)
c.278C>G (p.Thr93Ser)
n.539C>G
21g.44333077G>TCA410456317CFAP410c.329C>A (p.Thr110Asn)
n.2500C>A
n.388C>A
n.445C>A
c.206C>A (p.Thr69Asn)
c.404C>A (p.Thr135Asn)
c.5C>A (p.Thr2Asn)
n.532C>A
c.533C>A (p.Thr178Asn)
c.278C>A (p.Thr93Asn)
n.539C>A
21g.44333078T>ACA410456321CFAP410c.328A>T (p.Thr110Ser)
n.2499A>T
n.387A>T
n.444A>T
c.205A>T (p.Thr69Ser)
c.403A>T (p.Thr135Ser)
c.4A>T (p.Thr2Ser)
n.531A>T
c.532A>T (p.Thr178Ser)
c.277A>T (p.Thr93Ser)
n.538A>T
21g.44333078T>CCA410456324CFAP410c.328A>G (p.Thr110Ala)
n.2499A>G
n.387A>G
n.444A>G
c.205A>G (p.Thr69Ala)
c.403A>G (p.Thr135Ala)
c.4A>G (p.Thr2Ala)
n.531A>G
c.532A>G (p.Thr178Ala)
c.277A>G (p.Thr93Ala)
n.538A>G
21g.44333078T>GCA410456323CFAP410c.328A>C (p.Thr110Pro)
n.2499A>C
n.387A>C
n.444A>C
c.205A>C (p.Thr69Pro)
c.403A>C (p.Thr135Pro)
c.4A>C (p.Thr2Pro)
n.531A>C
c.532A>C (p.Thr178Pro)
c.277A>C (p.Thr93Pro)
n.538A>C
21g.44333079C>ACA410456326CFAP410c.327G>T (p.Met109Ile)
n.2498G>T
n.386G>T
n.443G>T
c.204G>T (p.Met68Ile)
c.402G>T (p.Met134Ile)
c.3G>T (p.Met1Ile)
n.530G>T
c.531G>T (p.Met177Ile)
c.276G>T (p.Met92Ile)
n.537G>T
21g.44333079C>GCA410456327CFAP410c.327G>C (p.Met109Ile)
n.2498G>C
n.386G>C
n.443G>C
c.204G>C (p.Met68Ile)
c.402G>C (p.Met134Ile)
c.3G>C (p.Met1Ile)
n.530G>C
c.531G>C (p.Met177Ile)
c.276G>C (p.Met92Ile)
n.537G>C
21g.44333079C>TCA410456331CFAP410c.327G>A (p.Met109Ile)
n.2498G>A
n.386G>A
n.443G>A
c.204G>A (p.Met68Ile)
c.402G>A (p.Met134Ile)
c.3G>A (p.Met1Ile)
n.530G>A
c.531G>A (p.Met177Ile)
c.276G>A (p.Met92Ile)
n.537G>A
21g.44333080A>CCA410456333CFAP410c.326T>G (p.Met109Arg)
n.2497T>G
n.385T>G
n.442T>G
c.203T>G (p.Met68Arg)
c.401T>G (p.Met134Arg)
c.2T>G (p.Met1Arg)
n.529T>G
c.530T>G (p.Met177Arg)
c.275T>G (p.Met92Arg)
n.536T>G
21g.44333080A>GCA410456334CFAP410c.326T>C (p.Met109Thr)
n.2497T>C
n.385T>C
n.442T>C
c.203T>C (p.Met68Thr)
c.401T>C (p.Met134Thr)
c.2T>C (p.Met1Thr)
n.529T>C
c.530T>C (p.Met177Thr)
c.275T>C (p.Met92Thr)
n.536T>C
21g.44333080A>TCA410456335CFAP410c.326T>A (p.Met109Lys)
n.2497T>A
n.385T>A
n.442T>A
c.203T>A (p.Met68Lys)
c.401T>A (p.Met134Lys)
c.2T>A (p.Met1Lys)
n.529T>A
c.530T>A (p.Met177Lys)
c.275T>A (p.Met92Lys)
n.536T>A
21g.44333081T>ACA410456336CFAP410c.325A>T (p.Met109Leu)
n.2496A>T
n.384A>T
n.441A>T
c.202A>T (p.Met68Leu)
c.400A>T (p.Met134Leu)
c.1A>T (p.Met1Leu)
n.528A>T
c.529A>T (p.Met177Leu)
c.274A>T (p.Met92Leu)
n.535A>T
21g.44333081T>CCA410456338CFAP410c.325A>G (p.Met109Val)
n.2496A>G
n.384A>G
n.441A>G
c.202A>G (p.Met68Val)
c.400A>G (p.Met134Val)
c.1A>G (p.Met1Val)
n.528A>G
c.529A>G (p.Met177Val)
c.274A>G (p.Met92Val)
n.535A>G
21g.44333081T>GCA410456339CFAP410c.325A>C (p.Met109Leu)
n.2496A>C
n.384A>C
n.441A>C
c.202A>C (p.Met68Leu)
c.400A>C (p.Met134Leu)
c.1A>C (p.Met1Leu)
n.528A>C
c.529A>C (p.Met177Leu)
c.274A>C (p.Met92Leu)
n.535A>C
21g.44333082G>ACA512670856CFAP410c.324C>T (p.Arg108=)
n.2495C>T
n.383C>T
n.440C>T
c.201C>T (p.Arg67=)
c.399C>T (p.Arg133=)
c.-1C>T (n.-1C>T)
n.527C>T
c.528C>T (p.Arg176=)
c.273C>T (p.Arg91=)
n.534C>T
 dbSNP gnomAD v2 gnomAD v4
21g.44333082G>CCA512670857CFAP410c.324C>G (p.Arg108=)
n.2495C>G
n.383C>G
n.440C>G
c.201C>G (p.Arg67=)
c.399C>G (p.Arg133=)
c.-1C>G (n.-1C>G)
n.527C>G
c.528C>G (p.Arg176=)
c.273C>G (p.Arg91=)
n.534C>G
21g.44333082G=CA2391590933CFAP410c.324C= (p.Arg108=)
n.2495C=
n.383C=
n.440C=
c.201C= (p.Arg67=)
c.399C= (p.Arg133=)
c.-1C= (n.-1C=)
n.527C=
c.528C= (p.Arg176=)
c.273C= (p.Arg91=)
n.534C=
21g.44333082G>TCA512670859CFAP410c.324C>A (p.Arg108=)
n.2495C>A
n.383C>A
n.440C>A
c.201C>A (p.Arg67=)
c.399C>A (p.Arg133=)
c.-1C>A (n.-1C>A)
n.527C>A
c.528C>A (p.Arg176=)
c.273C>A (p.Arg91=)
n.534C>A
21g.44333083C>ACA410456341CFAP410c.323G>T (p.Arg108Leu)
n.2494G>T
n.382G>T
n.439G>T
c.200G>T (p.Arg67Leu)
c.398G>T (p.Arg133Leu)
c.-2G>T (n.-2G>T)
n.526G>T
c.527G>T (p.Arg176Leu)
c.272G>T (p.Arg91Leu)
n.533G>T
21g.44333083C=CA2391590934CFAP410c.323G= (p.Arg108=)
n.2494G=
n.382G=
n.439G=
c.200G= (p.Arg67=)
c.398G= (p.Arg133=)
c.-2G= (n.-2G=)
n.526G=
c.527G= (p.Arg176=)
c.272G= (p.Arg91=)
n.533G=
21g.44333083C>GCA410456344CFAP410c.323G>C (p.Arg108Pro)
n.2494G>C
n.382G>C
n.439G>C
c.200G>C (p.Arg67Pro)
c.398G>C (p.Arg133Pro)
c.-2G>C (n.-2G>C)
n.526G>C
c.527G>C (p.Arg176Pro)
c.272G>C (p.Arg91Pro)
n.533G>C
21g.44333083C>TCA10053726CFAP410c.323G>A (p.Arg108His)
n.2494G>A
n.382G>A
n.439G>A
c.200G>A (p.Arg67His)
c.398G>A (p.Arg133His)
c.-2G>A (n.-2G>A)
n.526G>A
c.527G>A (p.Arg176His)
c.272G>A (p.Arg91His)
n.533G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333084G>ACA10053727CFAP410c.322C>T (p.Arg108Cys)
n.2493C>T
n.381C>T
n.438C>T
c.199C>T (p.Arg67Cys)
c.397C>T (p.Arg133Cys)
c.-3C>T (n.-3C>T)
n.525C>T
c.526C>T (p.Arg176Cys)
c.271C>T (p.Arg91Cys)
n.532C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333084G>CCA410456355CFAP410c.322C>G (p.Arg108Gly)
n.2493C>G
n.381C>G
n.438C>G
c.199C>G (p.Arg67Gly)
c.397C>G (p.Arg133Gly)
c.-3C>G (n.-3C>G)
n.525C>G
c.526C>G (p.Arg176Gly)
c.271C>G (p.Arg91Gly)
n.532C>G
21g.44333084G=CA2391590935CFAP410c.322C= (p.Arg108=)
n.2493C=
n.381C=
n.438C=
c.199C= (p.Arg67=)
c.397C= (p.Arg133=)
c.-3C= (n.-3C=)
n.525C=
c.526C= (p.Arg176=)
c.271C= (p.Arg91=)
n.532C=
21g.44333084G>TCA410456354CFAP410c.322C>A (p.Arg108Ser)
n.2493C>A
n.381C>A
n.438C>A
c.199C>A (p.Arg67Ser)
c.397C>A (p.Arg133Ser)
c.-3C>A (n.-3C>A)
n.525C>A
c.526C>A (p.Arg176Ser)
c.271C>A (p.Arg91Ser)
n.532C>A
 gnomAD v4
21g.44333085G>ACA512670864CFAP410c.321C>T (p.Tyr107=)
n.2492C>T
n.380C>T
n.437C>T
c.198C>T (p.Tyr66=)
c.396C>T (p.Tyr132=)
c.-4C>T (n.-4C>T)
n.524C>T
c.525C>T (p.Tyr175=)
c.270C>T (p.Tyr90=)
n.531C>T
 gnomAD v4
21g.44333085G>CCA410456358CFAP410c.321C>G (p.Tyr107Ter)
n.2492C>G
n.380C>G
n.437C>G
c.198C>G (p.Tyr66Ter)
c.396C>G (p.Tyr132Ter)
c.-4C>G (n.-4C>G)
n.524C>G
c.525C>G (p.Tyr175Ter)
c.270C>G (p.Tyr90Ter)
n.531C>G
21g.44333085G>TCA410456361CFAP410c.321C>A (p.Tyr107Ter)
n.2492C>A
n.380C>A
n.437C>A
c.198C>A (p.Tyr66Ter)
c.396C>A (p.Tyr132Ter)
c.-4C>A (n.-4C>A)
n.524C>A
c.525C>A (p.Tyr175Ter)
c.270C>A (p.Tyr90Ter)
n.531C>A
 gnomAD v4
21g.44333086T>ACA410456364CFAP410c.320A>T (p.Tyr107Phe)
n.2491A>T
n.379A>T
n.436A>T
c.197A>T (p.Tyr66Phe)
c.395A>T (p.Tyr132Phe)
c.-5A>T (n.-5A>T)
n.523A>T
c.524A>T (p.Tyr175Phe)
c.269A>T (p.Tyr90Phe)
n.530A>T
21g.44333086T>CCA410456369CFAP410c.320A>G (p.Tyr107Cys)
n.2491A>G
n.379A>G
n.436A>G
c.197A>G (p.Tyr66Cys)
c.395A>G (p.Tyr132Cys)
c.-5A>G (n.-5A>G)
n.523A>G
c.524A>G (p.Tyr175Cys)
c.269A>G (p.Tyr90Cys)
n.530A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.44333086T>GCA410456370CFAP410c.320A>C (p.Tyr107Ser)
n.2491A>C
n.379A>C
n.436A>C
c.197A>C (p.Tyr66Ser)
c.395A>C (p.Tyr132Ser)
c.-5A>C (n.-5A>C)
n.523A>C
c.524A>C (p.Tyr175Ser)
c.269A>C (p.Tyr90Ser)
n.530A>C
21g.44333086T=CA2391590936CFAP410c.320A= (p.Tyr107=)
n.2491A=
n.379A=
n.436A=
c.197A= (p.Tyr66=)
c.395A= (p.Tyr132=)
c.-5A= (n.-5A=)
n.523A=
c.524A= (p.Tyr175=)
c.269A= (p.Tyr90=)
n.530A=
21g.44333086dupCA2654807926CFAP410c.320dup (p.Tyr107Ter)
n.2491dup
n.379dup
n.436dup
c.197dup (p.Tyr66Ter)
c.395dup (p.Tyr132Ter)
c.-5dup (n.-5dup)
n.523dup
c.524dup (p.Tyr175Ter)
c.269dup (p.Tyr90Ter)
n.530dup
 gnomAD v4
21g.44333087A=CA2391590937CFAP410c.319T= (p.Tyr107=)
n.2490T=
n.378T=
n.435T=
c.196T= (p.Tyr66=)
c.394T= (p.Tyr132=)
c.-6T= (n.-6T=)
n.522T=
c.523T= (p.Tyr175=)
c.268T= (p.Tyr90=)
n.529T=
21g.44333087A>CCA410456372CFAP410c.319T>G (p.Tyr107Asp)
n.2490T>G
n.378T>G
n.435T>G
c.196T>G (p.Tyr66Asp)
c.394T>G (p.Tyr132Asp)
c.-6T>G (n.-6T>G)
n.522T>G
c.523T>G (p.Tyr175Asp)
c.268T>G (p.Tyr90Asp)
n.529T>G
21g.44333087A>GCA10053728CFAP410c.319T>C (p.Tyr107His)
n.2490T>C
n.378T>C
n.435T>C
c.196T>C (p.Tyr66His)
c.394T>C (p.Tyr132His)
c.-6T>C (n.-6T>C)
n.522T>C
c.523T>C (p.Tyr175His)
c.268T>C (p.Tyr90His)
n.529T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333087A>TCA410456374CFAP410c.319T>A (p.Tyr107Asn)
n.2490T>A
n.378T>A
n.435T>A
c.196T>A (p.Tyr66Asn)
c.394T>A (p.Tyr132Asn)
c.-6T>A (n.-6T>A)
n.522T>A
c.523T>A (p.Tyr175Asn)
c.268T>A (p.Tyr90Asn)
n.529T>A
21g.44333088G>ACA512670868CFAP410c.318C>T (p.Arg106=)
n.2489C>T
n.377C>T
n.434C>T
c.195C>T (p.Arg65=)
c.393C>T (p.Arg131=)
c.-7C>T (n.-7C>T)
n.521C>T
c.522C>T (p.Arg174=)
c.267C>T (p.Arg89=)
n.528C>T
 gnomAD v4
21g.44333088G>CCA512670869CFAP410c.318C>G (p.Arg106=)
n.2489C>G
n.377C>G
n.434C>G
c.195C>G (p.Arg65=)
c.393C>G (p.Arg131=)
c.-7C>G (n.-7C>G)
n.521C>G
c.522C>G (p.Arg174=)
c.267C>G (p.Arg89=)
n.528C>G
21g.44333088G>TCA512670871CFAP410c.318C>A (p.Arg106=)
n.2489C>A
n.377C>A
n.434C>A
c.195C>A (p.Arg65=)
c.393C>A (p.Arg131=)
c.-7C>A (n.-7C>A)
n.521C>A
c.522C>A (p.Arg174=)
c.267C>A (p.Arg89=)
n.528C>A
21g.44333089C>ACA410456376CFAP410c.317G>T (p.Arg106Leu)
n.2488G>T
n.376G>T
n.433G>T
c.194G>T (p.Arg65Leu)
c.392G>T (p.Arg131Leu)
c.-8G>T (n.-8G>T)
n.520G>T
c.521G>T (p.Arg174Leu)
c.266G>T (p.Arg89Leu)
n.527G>T
21g.44333089C=CA2391590938CFAP410c.317G= (p.Arg106=)
n.2488G=
n.376G=
n.433G=
c.194G= (p.Arg65=)
c.392G= (p.Arg131=)
c.-8G= (n.-8G=)
n.520G=
c.521G= (p.Arg174=)
c.266G= (p.Arg89=)
n.527G=
21g.44333089C>GCA410456378CFAP410c.317G>C (p.Arg106Pro)
n.2488G>C
n.376G>C
n.433G>C
c.194G>C (p.Arg65Pro)
c.392G>C (p.Arg131Pro)
c.-8G>C (n.-8G>C)
n.520G>C
c.521G>C (p.Arg174Pro)
c.266G>C (p.Arg89Pro)
n.527G>C
21g.44333089C>TCA10053729CFAP410c.317G>A (p.Arg106His)
n.2488G>A
n.376G>A
n.433G>A
c.194G>A (p.Arg65His)
c.392G>A (p.Arg131His)
c.-8G>A (n.-8G>A)
n.520G>A
c.521G>A (p.Arg174His)
c.266G>A (p.Arg89His)
n.527G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333090G>ACA10053730CFAP410c.316C>T (p.Arg106Cys)
n.2487C>T
n.375C>T
n.432C>T
c.193C>T (p.Arg65Cys)
c.391C>T (p.Arg131Cys)
c.-9C>T (n.-9C>T)
n.519C>T
c.520C>T (p.Arg174Cys)
c.265C>T (p.Arg89Cys)
n.526C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333090G>CCA410456381CFAP410c.316C>G (p.Arg106Gly)
n.2487C>G
n.375C>G
n.432C>G
c.193C>G (p.Arg65Gly)
c.391C>G (p.Arg131Gly)
c.-9C>G (n.-9C>G)
n.519C>G
c.520C>G (p.Arg174Gly)
c.265C>G (p.Arg89Gly)
n.526C>G
21g.44333090G=CA2391590939CFAP410c.316C= (p.Arg106=)
n.2487C=
n.375C=
n.432C=
c.193C= (p.Arg65=)
c.391C= (p.Arg131=)
c.-9C= (n.-9C=)
n.519C=
c.520C= (p.Arg174=)
c.265C= (p.Arg89=)
n.526C=
21g.44333090G>TCA410456389CFAP410c.316C>A (p.Arg106Ser)
n.2487C>A
n.375C>A
n.432C>A
c.193C>A (p.Arg65Ser)
c.391C>A (p.Arg131Ser)
c.-9C>A (n.-9C>A)
n.519C>A
c.520C>A (p.Arg174Ser)
c.265C>A (p.Arg89Ser)
n.526C>A
 dbSNP gnomAD v2 gnomAD v4
21g.44333091G>ACA512670876CFAP410c.315C>T (p.His105=)
n.2486C>T
n.374C>T
n.431C>T
c.192C>T (p.His64=)
c.390C>T (p.His130=)
c.-10C>T (n.-10C>T)
n.518C>T
c.519C>T (p.His173=)
c.264C>T (p.His88=)
n.525C>T
21g.44333091G>CCA410456390CFAP410c.315C>G (p.His105Gln)
n.2486C>G
n.374C>G
n.431C>G
c.192C>G (p.His64Gln)
c.390C>G (p.His130Gln)
c.-10C>G (n.-10C>G)
n.518C>G
c.519C>G (p.His173Gln)
c.264C>G (p.His88Gln)
n.525C>G
21g.44333091G>TCA410456391CFAP410c.315C>A (p.His105Gln)
n.2486C>A
n.374C>A
n.431C>A
c.192C>A (p.His64Gln)
c.390C>A (p.His130Gln)
c.-10C>A (n.-10C>A)
n.518C>A
c.519C>A (p.His173Gln)
c.264C>A (p.His88Gln)
n.525C>A
21g.44333092T>ACA410456394CFAP410c.314A>T (p.His105Leu)
n.2485A>T
n.373A>T
n.430A>T
c.191A>T (p.His64Leu)
c.389A>T (p.His130Leu)
c.-11A>T (n.-11A>T)
n.517A>T
c.518A>T (p.His173Leu)
c.263A>T (p.His88Leu)
n.524A>T
21g.44333092T>CCA410456396CFAP410c.314A>G (p.His105Arg)
n.2485A>G
n.373A>G
n.430A>G
c.191A>G (p.His64Arg)
c.389A>G (p.His130Arg)
c.-11A>G (n.-11A>G)
n.517A>G
c.518A>G (p.His173Arg)
c.263A>G (p.His88Arg)
n.524A>G
 gnomAD v4
21g.44333092T>GCA410456397CFAP410c.314A>C (p.His105Pro)
n.2485A>C
n.373A>C
n.430A>C
c.191A>C (p.His64Pro)
c.389A>C (p.His130Pro)
c.-11A>C (n.-11A>C)
n.517A>C
c.518A>C (p.His173Pro)
c.263A>C (p.His88Pro)
n.524A>C
21g.44333093G>ACA410456398CFAP410c.313C>T (p.His105Tyr)
n.2484C>T
n.372C>T
n.429C>T
c.190C>T (p.His64Tyr)
c.388C>T (p.His130Tyr)
c.-12C>T (n.-12C>T)
n.516C>T
c.517C>T (p.His173Tyr)
c.262C>T (p.His88Tyr)
n.523C>T
21g.44333093G>CCA321784812CFAP410c.313C>G (p.His105Asp)
n.2484C>G
n.372C>G
n.429C>G
c.190C>G (p.His64Asp)
c.388C>G (p.His130Asp)
c.-12C>G (n.-12C>G)
n.516C>G
c.517C>G (p.His173Asp)
c.262C>G (p.His88Asp)
n.523C>G
 dbSNP gnomAD v4
21g.44333093G=CA2391590940CFAP410c.313C= (p.His105=)
n.2484C=
n.372C=
n.429C=
c.190C= (p.His64=)
c.388C= (p.His130=)
c.-12C= (n.-12C=)
n.516C=
c.517C= (p.His173=)
c.262C= (p.His88=)
n.523C=
21g.44333093G>TCA410456401CFAP410c.313C>A (p.His105Asn)
n.2484C>A
n.372C>A
n.429C>A
c.190C>A (p.His64Asn)
c.388C>A (p.His130Asn)
c.-12C>A (n.-12C>A)
n.516C>A
c.517C>A (p.His173Asn)
c.262C>A (p.His88Asn)
n.523C>A
 dbSNP gnomAD v2 gnomAD v4
21g.44333094G>ACA512670878CFAP410c.312C>T (p.Pro104=)
n.2483C>T
n.371C>T
n.428C>T
c.189C>T (p.Pro63=)
c.387C>T (p.Pro129=)
c.-13C>T (n.-13C>T)
n.515C>T
c.516C>T (p.Pro172=)
c.261C>T (p.Pro87=)
n.522C>T
21g.44333094G>CCA512670879CFAP410c.312C>G (p.Pro104=)
n.2483C>G
n.371C>G
n.428C>G
c.189C>G (p.Pro63=)
c.387C>G (p.Pro129=)
c.-13C>G (n.-13C>G)
n.515C>G
c.516C>G (p.Pro172=)
c.261C>G (p.Pro87=)
n.522C>G
21g.44333094G>TCA512670880CFAP410c.312C>A (p.Pro104=)
n.2483C>A
n.371C>A
n.428C>A
c.189C>A (p.Pro63=)
c.387C>A (p.Pro129=)
c.-13C>A (n.-13C>A)
n.515C>A
c.516C>A (p.Pro172=)
c.261C>A (p.Pro87=)
n.522C>A
 gnomAD v4
21g.44333095G>ACA321784814CFAP410c.311C>T (p.Pro104Leu)
n.2482C>T
n.370C>T
n.427C>T
c.188C>T (p.Pro63Leu)
c.386C>T (p.Pro129Leu)
c.-14C>T (n.-14C>T)
n.514C>T
c.515C>T (p.Pro172Leu)
c.260C>T (p.Pro87Leu)
n.521C>T
 dbSNP gnomAD v2 gnomAD v4
21g.44333095G>CCA410456406CFAP410c.311C>G (p.Pro104Arg)
n.2482C>G
n.370C>G
n.427C>G
c.188C>G (p.Pro63Arg)
c.386C>G (p.Pro129Arg)
c.-14C>G (n.-14C>G)
n.514C>G
c.515C>G (p.Pro172Arg)
c.260C>G (p.Pro87Arg)
n.521C>G
21g.44333095G=CA2391590941CFAP410c.311C= (p.Pro104=)
n.2482C=
n.370C=
n.427C=
c.188C= (p.Pro63=)
c.386C= (p.Pro129=)
c.-14C= (n.-14C=)
n.514C=
c.515C= (p.Pro172=)
c.260C= (p.Pro87=)
n.521C=
21g.44333095G>TCA410456410CFAP410c.311C>A (p.Pro104His)
n.2482C>A
n.370C>A
n.427C>A
c.188C>A (p.Pro63His)
c.386C>A (p.Pro129His)
c.-14C>A (n.-14C>A)
n.514C>A
c.515C>A (p.Pro172His)
c.260C>A (p.Pro87His)
n.521C>A
21g.44333096G>ACA410456417CFAP410c.310C>T (p.Pro104Ser)
n.2481C>T
n.369C>T
n.426C>T
c.187C>T (p.Pro63Ser)
c.385C>T (p.Pro129Ser)
c.-15C>T (n.-15C>T)
n.513C>T
c.514C>T (p.Pro172Ser)
c.259C>T (p.Pro87Ser)
n.520C>T
 gnomAD v4
21g.44333096G>CCA410456419CFAP410c.310C>G (p.Pro104Ala)
n.2481C>G
n.369C>G
n.426C>G
c.187C>G (p.Pro63Ala)
c.385C>G (p.Pro129Ala)
c.-15C>G (n.-15C>G)
n.513C>G
c.514C>G (p.Pro172Ala)
c.259C>G (p.Pro87Ala)
n.520C>G
21g.44333096G>TCA410456421CFAP410c.310C>A (p.Pro104Thr)
n.2481C>A
n.369C>A
n.426C>A
c.187C>A (p.Pro63Thr)
c.385C>A (p.Pro129Thr)
c.-15C>A (n.-15C>A)
n.513C>A
c.514C>A (p.Pro172Thr)
c.259C>A (p.Pro87Thr)
n.520C>A
21g.44333097G>ACA512670883CFAP410c.309C>T (p.Ser103=)
n.2480C>T
n.368C>T
n.425C>T
c.186C>T (p.Ser62=)
c.384C>T (p.Ser128=)
c.-16C>T (n.-16C>T)
n.512C>T
c.513C>T (p.Ser171=)
c.258C>T (p.Ser86=)
n.519C>T
21g.44333097G>CCA410456422CFAP410c.309C>G (p.Ser103Arg)
n.2480C>G
n.368C>G
n.425C>G
c.186C>G (p.Ser62Arg)
c.384C>G (p.Ser128Arg)
c.-16C>G (n.-16C>G)
n.512C>G
c.513C>G (p.Ser171Arg)
c.258C>G (p.Ser86Arg)
n.519C>G
21g.44333097G>TCA410456423CFAP410c.309C>A (p.Ser103Arg)
n.2480C>A
n.368C>A
n.425C>A
c.186C>A (p.Ser62Arg)
c.384C>A (p.Ser128Arg)
c.-16C>A (n.-16C>A)
n.512C>A
c.513C>A (p.Ser171Arg)
c.258C>A (p.Ser86Arg)
n.519C>A
21g.44333098C>ACA410456426CFAP410c.308G>T (p.Ser103Ile)
n.2479G>T
n.367G>T
n.424G>T
c.185G>T (p.Ser62Ile)
c.383G>T (p.Ser128Ile)
c.-17G>T (n.-17G>T)
n.511G>T
c.512G>T (p.Ser171Ile)
c.257G>T (p.Ser86Ile)
n.518G>T
21g.44333098C>GCA410456433CFAP410c.308G>C (p.Ser103Thr)
n.2479G>C
n.367G>C
n.424G>C
c.185G>C (p.Ser62Thr)
c.383G>C (p.Ser128Thr)
c.-17G>C (n.-17G>C)
n.511G>C
c.512G>C (p.Ser171Thr)
c.257G>C (p.Ser86Thr)
n.518G>C
21g.44333098C>TCA410456443CFAP410c.308G>A (p.Ser103Asn)
n.2479G>A
n.367G>A
n.424G>A
c.185G>A (p.Ser62Asn)
c.383G>A (p.Ser128Asn)
c.-17G>A (n.-17G>A)
n.511G>A
c.512G>A (p.Ser171Asn)
c.257G>A (p.Ser86Asn)
n.518G>A
21g.44333099T>ACA410456448CFAP410c.307A>T (p.Ser103Cys)
n.2478A>T
n.366A>T
n.423A>T
c.184A>T (p.Ser62Cys)
c.382A>T (p.Ser128Cys)
c.-18A>T (n.-18A>T)
n.510A>T
c.511A>T (p.Ser171Cys)
c.256A>T (p.Ser86Cys)
n.517A>T
21g.44333099T>CCA321784817CFAP410c.307A>G (p.Ser103Gly)
n.2478A>G
n.366A>G
n.423A>G
c.184A>G (p.Ser62Gly)
c.382A>G (p.Ser128Gly)
c.-18A>G (n.-18A>G)
n.510A>G
c.511A>G (p.Ser171Gly)
c.256A>G (p.Ser86Gly)
n.517A>G
 dbSNP gnomAD v3 gnomAD v4
21g.44333099T>GCA410456449CFAP410c.307A>C (p.Ser103Arg)
n.2478A>C
n.366A>C
n.423A>C
c.184A>C (p.Ser62Arg)
c.382A>C (p.Ser128Arg)
c.-18A>C (n.-18A>C)
n.510A>C
c.511A>C (p.Ser171Arg)
c.256A>C (p.Ser86Arg)
n.517A>C
21g.44333099T=CA2391590942CFAP410c.307A= (p.Ser103=)
n.2478A=
n.366A=
n.423A=
c.184A= (p.Ser62=)
c.382A= (p.Ser128=)
c.-18A= (n.-18A=)
n.510A=
c.511A= (p.Ser171=)
c.256A= (p.Ser86=)
n.517A=
21g.44333100G>ACA512670887CFAP410c.306C>T (p.Thr102=)
n.2477C>T
n.365C>T
n.422C>T
c.183C>T (p.Thr61=)
c.381C>T (p.Thr127=)
c.-19C>T (n.-19C>T)
n.509C>T
c.510C>T (p.Thr170=)
c.255C>T (p.Thr85=)
n.516C>T
 gnomAD v4
21g.44333100G>CCA512670885CFAP410c.306C>G (p.Thr102=)
n.2477C>G
n.365C>G
n.422C>G
c.183C>G (p.Thr61=)
c.381C>G (p.Thr127=)
c.-19C>G (n.-19C>G)
n.509C>G
c.510C>G (p.Thr170=)
c.255C>G (p.Thr85=)
n.516C>G
 dbSNP
21g.44333100G=CA2391590943CFAP410c.306C= (p.Thr102=)
n.2477C=
n.365C=
n.422C=
c.183C= (p.Thr61=)
c.381C= (p.Thr127=)
c.-19C= (n.-19C=)
n.509C=
c.510C= (p.Thr170=)
c.255C= (p.Thr85=)
n.516C=
21g.44333100G>TCA512670884CFAP410c.306C>A (p.Thr102=)
n.2477C>A
n.365C>A
n.422C>A
c.183C>A (p.Thr61=)
c.381C>A (p.Thr127=)
c.-19C>A (n.-19C>A)
n.509C>A
c.510C>A (p.Thr170=)
c.255C>A (p.Thr85=)
n.516C>A
21g.44333101G>ACA410456460CFAP410c.305C>T (p.Thr102Ile)
n.2476C>T
n.364C>T
n.421C>T
c.182C>T (p.Thr61Ile)
c.380C>T (p.Thr127Ile)
c.-20C>T (n.-20C>T)
n.508C>T
c.509C>T (p.Thr170Ile)
c.254C>T (p.Thr85Ile)
n.515C>T
21g.44333101G>CCA410456456CFAP410c.305C>G (p.Thr102Ser)
n.2476C>G
n.364C>G
n.421C>G
c.182C>G (p.Thr61Ser)
c.380C>G (p.Thr127Ser)
c.-20C>G (n.-20C>G)
n.508C>G
c.509C>G (p.Thr170Ser)
c.254C>G (p.Thr85Ser)
n.515C>G
21g.44333101G>TCA410456451CFAP410c.305C>A (p.Thr102Asn)
n.2476C>A
n.364C>A
n.421C>A
c.182C>A (p.Thr61Asn)
c.380C>A (p.Thr127Asn)
c.-20C>A (n.-20C>A)
n.508C>A
c.509C>A (p.Thr170Asn)
c.254C>A (p.Thr85Asn)
n.515C>A
21g.44333102T>ACA410456461CFAP410c.304A>T (p.Thr102Ser)
n.2475A>T
n.363A>T
n.420A>T
c.181A>T (p.Thr61Ser)
c.379A>T (p.Thr127Ser)
c.-21A>T (n.-21A>T)
n.507A>T
c.508A>T (p.Thr170Ser)
c.253A>T (p.Thr85Ser)
n.514A>T
21g.44333102T>CCA410456462CFAP410c.304A>G (p.Thr102Ala)
n.2475A>G
n.363A>G
n.420A>G
c.181A>G (p.Thr61Ala)
c.379A>G (p.Thr127Ala)
c.-21A>G (n.-21A>G)
n.507A>G
c.508A>G (p.Thr170Ala)
c.253A>G (p.Thr85Ala)
n.514A>G
21g.44333102T>GCA410456467CFAP410c.304A>C (p.Thr102Pro)
n.2475A>C
n.363A>C
n.420A>C
c.181A>C (p.Thr61Pro)
c.379A>C (p.Thr127Pro)
c.-21A>C (n.-21A>C)
n.507A>C
c.508A>C (p.Thr170Pro)
c.253A>C (p.Thr85Pro)
n.514A>C
 gnomAD v4
21g.44333103G>ACA512670890CFAP410c.303C>T (p.Gly101=)
n.2474C>T
n.362C>T
n.419C>T
c.180C>T (p.Gly60=)
c.378C>T (p.Gly126=)
c.-22C>T (n.-22C>T)
n.506C>T
c.507C>T (p.Gly169=)
c.252C>T (p.Gly84=)
n.513C>T
21g.44333103G>CCA512670891CFAP410c.303C>G (p.Gly101=)
n.2474C>G
n.362C>G
n.419C>G
c.180C>G (p.Gly60=)
c.378C>G (p.Gly126=)
c.-22C>G (n.-22C>G)
n.506C>G
c.507C>G (p.Gly169=)
c.252C>G (p.Gly84=)
n.513C>G
21g.44333103G>TCA512670892CFAP410c.303C>A (p.Gly101=)
n.2474C>A
n.362C>A
n.419C>A
c.180C>A (p.Gly60=)
c.378C>A (p.Gly126=)
c.-22C>A (n.-22C>A)
n.506C>A
c.507C>A (p.Gly169=)
c.252C>A (p.Gly84=)
n.513C>A
 gnomAD v4
21g.44333105_44333110delCA2577621294CFAP410c.298_303del (p.Cys100_Gly101del)
n.2469_2474del
n.357_362del
n.414_419del
c.175_180del (p.Cys59_Gly60del)
c.373_378del (p.Cys125_Gly126del)
c.-27_-22del (n.-27_-22del)
n.501_506del
c.502_507del (p.Cys168_Gly169del)
c.247_252del (p.Cys83_Gly84del)
n.508_513del
21g.44333104C>ACA410456468CFAP410c.302G>T (p.Gly101Val)
n.2473G>T
n.361G>T
n.418G>T
c.179G>T (p.Gly60Val)
c.377G>T (p.Gly126Val)
c.-23G>T (n.-23G>T)
n.505G>T
c.506G>T (p.Gly169Val)
c.251G>T (p.Gly84Val)
n.512G>T
21g.44333104C=CA2391590944CFAP410c.302G= (p.Gly101=)
n.2473G=
n.361G=
n.418G=
c.179G= (p.Gly60=)
c.377G= (p.Gly126=)
c.-23G= (n.-23G=)
n.505G=
c.506G= (p.Gly169=)
c.251G= (p.Gly84=)
n.512G=
21g.44333104C>GCA410456470CFAP410c.302G>C (p.Gly101Ala)
n.2473G>C
n.361G>C
n.418G>C
c.179G>C (p.Gly60Ala)
c.377G>C (p.Gly126Ala)
c.-23G>C (n.-23G>C)
n.505G>C
c.506G>C (p.Gly169Ala)
c.251G>C (p.Gly84Ala)
n.512G>C
21g.44333104C>TCA410456474CFAP410c.302G>A (p.Gly101Asp)
n.2473G>A
n.361G>A
n.418G>A
c.179G>A (p.Gly60Asp)
c.377G>A (p.Gly126Asp)
c.-23G>A (n.-23G>A)
n.505G>A
c.506G>A (p.Gly169Asp)
c.251G>A (p.Gly84Asp)
n.512G>A
 dbSNP gnomAD v4
21g.44333104_44333105insACA10053731CFAP410c.301_302insT (p.Gly101ValfsTer?)
n.2472_2473insT
n.360_361insT
n.417_418insT
c.178_179insT (p.Gly60ValfsTer?)
c.376_377insT (p.Gly126ValfsTer?)
c.-24_-23insT (n.-24_-23insT)
n.504_505insT
c.505_506insT (p.Gly169ValfsTer?)
c.250_251insT (p.Gly84ValfsTer?)
n.511_512insT
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333105C>ACA410456478CFAP410c.301G>T (p.Gly101Cys)
n.2472G>T
n.360G>T
n.417G>T
c.178G>T (p.Gly60Cys)
c.376G>T (p.Gly126Cys)
c.-24G>T (n.-24G>T)
n.504G>T
c.505G>T (p.Gly169Cys)
c.250G>T (p.Gly84Cys)
n.511G>T
 dbSNP gnomAD v2 gnomAD v4
21g.44333105C=CA2391590945CFAP410c.301G= (p.Gly101=)
n.2472G=
n.360G=
n.417G=
c.178G= (p.Gly60=)
c.376G= (p.Gly126=)
c.-24G= (n.-24G=)
n.504G=
c.505G= (p.Gly169=)
c.250G= (p.Gly84=)
n.511G=
21g.44333105C>GCA410456480CFAP410c.301G>C (p.Gly101Arg)
n.2472G>C
n.360G>C
n.417G>C
c.178G>C (p.Gly60Arg)
c.376G>C (p.Gly126Arg)
c.-24G>C (n.-24G>C)
n.504G>C
c.505G>C (p.Gly169Arg)
c.250G>C (p.Gly84Arg)
n.511G>C
21g.44333105C>TCA10053732CFAP410c.301G>A (p.Gly101Ser)
n.2472G>A
n.360G>A
n.417G>A
c.178G>A (p.Gly60Ser)
c.376G>A (p.Gly126Ser)
c.-24G>A (n.-24G>A)
n.504G>A
c.505G>A (p.Gly169Ser)
c.250G>A (p.Gly84Ser)
n.511G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44333105_44333121delinsACGGGTTCGTGCACGGGTCA2580098823CFAP410c.285_301delinsACCCGTGCACGAACCCGT (p.Glu96ProfsTer?)
n.2456_2472delinsACCCGTGCACGAACCCGT
n.344_360delinsACCCGTGCACGAACCCGT
n.401_417delinsACCCGTGCACGAACCCGT
c.162_178delinsACCCGTGCACGAACCCGT (p.Glu55ProfsTer?)
c.360_376delinsACCCGTGCACGAACCCGT (p.Glu121ProfsTer?)
c.-40_-24delinsACCCGTGCACGAACCCGT (n.-40_-24delinsACCCGTGCACGAACCCGT)
n.488_504delinsACCCGTGCACGAACCCGT
c.489_505delinsACCCGTGCACGAACCCGT (p.Glu164ProfsTer?)
c.234_250delinsACCCGTGCACGAACCCGT (p.Glu79ProfsTer?)
n.495_511delinsACCCGTGCACGAACCCGT
 ClinVar
21g.44333106G>ACA10053733CFAP410c.300C>T (p.Cys100=)
n.2471C>T
n.359C>T
n.416C>T
c.177C>T (p.Cys59=)
c.375C>T (p.Cys125=)
c.-25C>T (n.-25C>T)
n.503C>T
c.504C>T (p.Cys168=)
c.249C>T (p.Cys83=)
n.510C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333106G>CCA410456488CFAP410c.300C>G (p.Cys100Trp)
n.2471C>G
n.359C>G
n.416C>G
c.177C>G (p.Cys59Trp)
c.375C>G (p.Cys125Trp)
c.-25C>G (n.-25C>G)
n.503C>G
c.504C>G (p.Cys168Trp)
c.249C>G (p.Cys83Trp)
n.510C>G
21g.44333106G=CA2391590946CFAP410c.300C= (p.Cys100=)
n.2471C=
n.359C=
n.416C=
c.177C= (p.Cys59=)
c.375C= (p.Cys125=)
c.-25C= (n.-25C=)
n.503C=
c.504C= (p.Cys168=)
c.249C= (p.Cys83=)
n.510C=
21g.44333106G>TCA410456496CFAP410c.300C>A (p.Cys100Ter)
n.2471C>A
n.359C>A
n.416C>A
c.177C>A (p.Cys59Ter)
c.375C>A (p.Cys125Ter)
c.-25C>A (n.-25C>A)
n.503C>A
c.504C>A (p.Cys168Ter)
c.249C>A (p.Cys83Ter)
n.510C>A
 gnomAD v4
21g.44333106_44333107insGGTTCCA10053734CFAP410c.299_300insGAACC (p.Cys100TrpfsTer12)
n.2470_2471insGAACC
n.358_359insGAACC
n.415_416insGAACC
c.176_177insGAACC (p.Cys59TrpfsTer12)
c.374_375insGAACC (p.Cys125TrpfsTer12)
c.-26_-25insGAACC (n.-26_-25insGAACC)
n.502_503insGAACC
c.503_504insGAACC (p.Cys168TrpfsTer12)
c.248_249insGAACC (p.Cys83TrpfsTer12)
n.509_510insGAACC
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333107C>ACA410456500CFAP410c.299G>T (p.Cys100Phe)
n.2470G>T
n.358G>T
n.415G>T
c.176G>T (p.Cys59Phe)
c.374G>T (p.Cys125Phe)
c.-26G>T (n.-26G>T)
n.502G>T
c.503G>T (p.Cys168Phe)
c.248G>T (p.Cys83Phe)
n.509G>T
21g.44333107C=CA2391590947CFAP410c.299G= (p.Cys100=)
n.2470G=
n.358G=
n.415G=
c.176G= (p.Cys59=)
c.374G= (p.Cys125=)
c.-26G= (n.-26G=)
n.502G=
c.503G= (p.Cys168=)
c.248G= (p.Cys83=)
n.509G=
21g.44333107C>GCA410456502CFAP410c.299G>C (p.Cys100Ser)
n.2470G>C
n.358G>C
n.415G>C
c.176G>C (p.Cys59Ser)
c.374G>C (p.Cys125Ser)
c.-26G>C (n.-26G>C)
n.502G>C
c.503G>C (p.Cys168Ser)
c.248G>C (p.Cys83Ser)
n.509G>C
21g.44333107C>TCA410456504CFAP410c.299G>A (p.Cys100Tyr)
n.2470G>A
n.358G>A
n.415G>A
c.176G>A (p.Cys59Tyr)
c.374G>A (p.Cys125Tyr)
c.-26G>A (n.-26G>A)
n.502G>A
c.503G>A (p.Cys168Tyr)
c.248G>A (p.Cys83Tyr)
n.509G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333108A=CA2391590948CFAP410c.298T= (p.Cys100=)
n.2469T=
n.357T=
n.414T=
c.175T= (p.Cys59=)
c.373T= (p.Cys125=)
c.-27T= (n.-27T=)
n.501T=
c.502T= (p.Cys168=)
c.247T= (p.Cys83=)
n.508T=
21g.44333108A>CCA410456506CFAP410c.298T>G (p.Cys100Gly)
n.2469T>G
n.357T>G
n.414T>G
c.175T>G (p.Cys59Gly)
c.373T>G (p.Cys125Gly)
c.-27T>G (n.-27T>G)
n.501T>G
c.502T>G (p.Cys168Gly)
c.247T>G (p.Cys83Gly)
n.508T>G
 COSMIC
21g.44333108A>GCA410456508CFAP410c.298T>C (p.Cys100Arg)
n.2469T>C
n.357T>C
n.414T>C
c.175T>C (p.Cys59Arg)
c.373T>C (p.Cys125Arg)
c.-27T>C (n.-27T>C)
n.501T>C
c.502T>C (p.Cys168Arg)
c.247T>C (p.Cys83Arg)
n.508T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.44333108A>TCA410456510CFAP410c.298T>A (p.Cys100Ser)
n.2469T>A
n.357T>A
n.414T>A
c.175T>A (p.Cys59Ser)
c.373T>A (p.Cys125Ser)
c.-27T>A (n.-27T>A)
n.501T>A
c.502T>A (p.Cys168Ser)
c.247T>A (p.Cys83Ser)
n.508T>A
21g.44333109G>ACA512670898CFAP410c.297C>T (p.Cys99=)
n.2468C>T
n.356C>T
n.413C>T
c.174C>T (p.Cys58=)
c.372C>T (p.Cys124=)
c.-28C>T (n.-28C>T)
n.500C>T
c.501C>T (p.Cys167=)
c.246C>T (p.Cys82=)
n.507C>T
21g.44333109G>CCA410456511CFAP410c.297C>G (p.Cys99Trp)
n.2468C>G
n.356C>G
n.413C>G
c.174C>G (p.Cys58Trp)
c.372C>G (p.Cys124Trp)
c.-28C>G (n.-28C>G)
n.500C>G
c.501C>G (p.Cys167Trp)
c.246C>G (p.Cys82Trp)
n.507C>G
21g.44333109G>TCA410456513CFAP410c.297C>A (p.Cys99Ter)
n.2468C>A
n.356C>A
n.413C>A
c.174C>A (p.Cys58Ter)
c.372C>A (p.Cys124Ter)
c.-28C>A (n.-28C>A)
n.500C>A
c.501C>A (p.Cys167Ter)
c.246C>A (p.Cys82Ter)
n.507C>A
21g.44333110C>ACA410456554CFAP410c.296G>T (p.Cys99Phe)
n.2467G>T
n.355G>T
n.412G>T
c.173G>T (p.Cys58Phe)
c.371G>T (p.Cys124Phe)
c.-29G>T (n.-29G>T)
n.499G>T
c.500G>T (p.Cys167Phe)
c.245G>T (p.Cys82Phe)
n.506G>T
21g.44333110C>GCA410456517CFAP410c.296G>C (p.Cys99Ser)
n.2467G>C
n.355G>C
n.412G>C
c.173G>C (p.Cys58Ser)
c.371G>C (p.Cys124Ser)
c.-29G>C (n.-29G>C)
n.499G>C
c.500G>C (p.Cys167Ser)
c.245G>C (p.Cys82Ser)
n.506G>C
21g.44333110C>TCA410456527CFAP410c.296G>A (p.Cys99Tyr)
n.2467G>A
n.355G>A
n.412G>A
c.173G>A (p.Cys58Tyr)
c.371G>A (p.Cys124Tyr)
c.-29G>A (n.-29G>A)
n.499G>A
c.500G>A (p.Cys167Tyr)
c.245G>A (p.Cys82Tyr)
n.506G>A
21g.44333111A>CCA410456572CFAP410c.295T>G (p.Cys99Gly)
n.2466T>G
n.354T>G
n.411T>G
c.172T>G (p.Cys58Gly)
c.370T>G (p.Cys124Gly)
c.-30T>G (n.-30T>G)
n.498T>G
c.499T>G (p.Cys167Gly)
c.244T>G (p.Cys82Gly)
n.505T>G
21g.44333111A>GCA410456574CFAP410c.295T>C (p.Cys99Arg)
n.2466T>C
n.354T>C
n.411T>C
c.172T>C (p.Cys58Arg)
c.370T>C (p.Cys124Arg)
c.-30T>C (n.-30T>C)
n.498T>C
c.499T>C (p.Cys167Arg)
c.244T>C (p.Cys82Arg)
n.505T>C
21g.44333111A>TCA410456576CFAP410c.295T>A (p.Cys99Ser)
n.2466T>A
n.354T>A
n.411T>A
c.172T>A (p.Cys58Ser)
c.370T>A (p.Cys124Ser)
c.-30T>A (n.-30T>A)
n.498T>A
c.499T>A (p.Cys167Ser)
c.244T>A (p.Cys82Ser)
n.505T>A
21g.44333112C>ACA10053736CFAP410c.294G>T (p.Pro98=)
n.2465G>T
n.353G>T
n.410G>T
c.171G>T (p.Pro57=)
c.369G>T (p.Pro123=)
c.-31G>T (n.-31G>T)
n.497G>T
c.498G>T (p.Pro166=)
c.243G>T (p.Pro81=)
n.504G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333112C=CA2391590949CFAP410c.294G= (p.Pro98=)
n.2465G=
n.353G=
n.410G=
c.171G= (p.Pro57=)
c.369G= (p.Pro123=)
c.-31G= (n.-31G=)
n.497G=
c.498G= (p.Pro166=)
c.243G= (p.Pro81=)
n.504G=
21g.44333112C>GCA512670901CFAP410c.294G>C (p.Pro98=)
n.2465G>C
n.353G>C
n.410G>C
c.171G>C (p.Pro57=)
c.369G>C (p.Pro123=)
c.-31G>C (n.-31G>C)
n.497G>C
c.498G>C (p.Pro166=)
c.243G>C (p.Pro81=)
n.504G>C
21g.44333112C>TCA10053735CFAP410c.294G>A (p.Pro98=)
n.2465G>A
n.353G>A
n.410G>A
c.171G>A (p.Pro57=)
c.369G>A (p.Pro123=)
c.-31G>A (n.-31G>A)
n.497G>A
c.498G>A (p.Pro166=)
c.243G>A (p.Pro81=)
n.504G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333113G>ACA10053737CFAP410c.293C>T (p.Pro98Leu)
n.2464C>T
n.352C>T
n.409C>T
c.170C>T (p.Pro57Leu)
c.368C>T (p.Pro123Leu)
c.-32C>T (n.-32C>T)
n.496C>T
c.497C>T (p.Pro166Leu)
c.242C>T (p.Pro81Leu)
n.503C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333113G>CCA410456599CFAP410c.293C>G (p.Pro98Arg)
n.2464C>G
n.352C>G
n.409C>G
c.170C>G (p.Pro57Arg)
c.368C>G (p.Pro123Arg)
c.-32C>G (n.-32C>G)
n.496C>G
c.497C>G (p.Pro166Arg)
c.242C>G (p.Pro81Arg)
n.503C>G
 gnomAD v4
21g.44333113G=CA2391590950CFAP410c.293C= (p.Pro98=)
n.2464C=
n.352C=
n.409C=
c.170C= (p.Pro57=)
c.368C= (p.Pro123=)
c.-32C= (n.-32C=)
n.496C=
c.497C= (p.Pro166=)
c.242C= (p.Pro81=)
n.503C=
21g.44333113G>TCA410456601CFAP410c.293C>A (p.Pro98Gln)
n.2464C>A
n.352C>A
n.409C>A
c.170C>A (p.Pro57Gln)
c.368C>A (p.Pro123Gln)
c.-32C>A (n.-32C>A)
n.496C>A
c.497C>A (p.Pro166Gln)
c.242C>A (p.Pro81Gln)
n.503C>A
 gnomAD v4
21g.44333114G>ACA10053738CFAP410c.292C>T (p.Pro98Ser)
n.2463C>T
n.351C>T
n.408C>T
c.169C>T (p.Pro57Ser)
c.367C>T (p.Pro123Ser)
c.-33C>T (n.-33C>T)
n.495C>T
c.496C>T (p.Pro166Ser)
c.241C>T (p.Pro81Ser)
n.502C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333114G>CCA410456607CFAP410c.292C>G (p.Pro98Ala)
n.2463C>G
n.351C>G
n.408C>G
c.169C>G (p.Pro57Ala)
c.367C>G (p.Pro123Ala)
c.-33C>G (n.-33C>G)
n.495C>G
c.496C>G (p.Pro166Ala)
c.241C>G (p.Pro81Ala)
n.502C>G
21g.44333114G=CA2391590951CFAP410c.292C= (p.Pro98=)
n.2463C=
n.351C=
n.408C=
c.169C= (p.Pro57=)
c.367C= (p.Pro123=)
c.-33C= (n.-33C=)
n.495C=
c.496C= (p.Pro166=)
c.241C= (p.Pro81=)
n.502C=
21g.44333114G>TCA410456612CFAP410c.292C>A (p.Pro98Thr)
n.2463C>A
n.351C>A
n.408C>A
c.169C>A (p.Pro57Thr)
c.367C>A (p.Pro123Thr)
c.-33C>A (n.-33C>A)
n.495C>A
c.496C>A (p.Pro166Thr)
c.241C>A (p.Pro81Thr)
n.502C>A
 dbSNP gnomAD v2 gnomAD v4
21g.44333115G>ACA512670903CFAP410c.291C>T (p.Asn97=)
n.2462C>T
n.350C>T
n.407C>T
c.168C>T (p.Asn56=)
c.366C>T (p.Asn122=)
c.-34C>T (n.-34C>T)
n.494C>T
c.495C>T (p.Asn165=)
c.240C>T (p.Asn80=)
n.501C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.44333115G>CCA410456616CFAP410c.291C>G (p.Asn97Lys)
n.2462C>G
n.350C>G
n.407C>G
c.168C>G (p.Asn56Lys)
c.366C>G (p.Asn122Lys)
c.-34C>G (n.-34C>G)
n.494C>G
c.495C>G (p.Asn165Lys)
c.240C>G (p.Asn80Lys)
n.501C>G
 ClinVar dbSNP gnomAD v4
21g.44333115G=CA2391590952CFAP410c.291C= (p.Asn97=)
n.2462C=
n.350C=
n.407C=
c.168C= (p.Asn56=)
c.366C= (p.Asn122=)
c.-34C= (n.-34C=)
n.494C=
c.495C= (p.Asn165=)
c.240C= (p.Asn80=)
n.501C=
21g.44333115G>TCA410456621CFAP410c.291C>A (p.Asn97Lys)
n.2462C>A
n.350C>A
n.407C>A
c.168C>A (p.Asn56Lys)
c.366C>A (p.Asn122Lys)
c.-34C>A (n.-34C>A)
n.494C>A
c.495C>A (p.Asn165Lys)
c.240C>A (p.Asn80Lys)
n.501C>A
21g.44333116T>ACA410456634CFAP410c.290A>T (p.Asn97Ile)
n.2461A>T
n.349A>T
n.406A>T
c.167A>T (p.Asn56Ile)
c.365A>T (p.Asn122Ile)
c.-35A>T (n.-35A>T)
n.493A>T
c.494A>T (p.Asn165Ile)
c.239A>T (p.Asn80Ile)
n.500A>T
21g.44333116T>CCA410456632CFAP410c.290A>G (p.Asn97Ser)
n.2461A>G
n.349A>G
n.406A>G
c.167A>G (p.Asn56Ser)
c.365A>G (p.Asn122Ser)
c.-35A>G (n.-35A>G)
n.493A>G
c.494A>G (p.Asn165Ser)
c.239A>G (p.Asn80Ser)
n.500A>G
21g.44333116T>GCA321784839CFAP410c.290A>C (p.Asn97Thr)
n.2461A>C
n.349A>C
n.406A>C
c.167A>C (p.Asn56Thr)
c.365A>C (p.Asn122Thr)
c.-35A>C (n.-35A>C)
n.493A>C
c.494A>C (p.Asn165Thr)
c.239A>C (p.Asn80Thr)
n.500A>C
 dbSNP
21g.44333116T=CA2391590953CFAP410c.290A= (p.Asn97=)
n.2461A=
n.349A=
n.406A=
c.167A= (p.Asn56=)
c.365A= (p.Asn122=)
c.-35A= (n.-35A=)
n.493A=
c.494A= (p.Asn165=)
c.239A= (p.Asn80=)
n.500A=
21g.44333116_44333121delinsTTCTCGCA2391590954CFAP410c.285_290delinsCGAGAA (p.Ala95=)
n.2456_2461delinsCGAGAA
n.344_349delinsCGAGAA
n.401_406delinsCGAGAA
c.162_167delinsCGAGAA (p.Ala54=)
c.360_365delinsCGAGAA (p.Ala120=)
c.-40_-35delinsCGAGAA (n.-40_-35delinsCGAGAA)
n.488_493delinsCGAGAA
c.489_494delinsCGAGAA (p.Ala163=)
c.234_239delinsCGAGAA (p.Ala78=)
n.495_500delinsCGAGAA
21g.44333117T>ACA410456636CFAP410c.289A>T (p.Asn97Tyr)
n.2460A>T
n.348A>T
n.405A>T
c.166A>T (p.Asn56Tyr)
c.364A>T (p.Asn122Tyr)
c.-36A>T (n.-36A>T)
n.492A>T
c.493A>T (p.Asn165Tyr)
c.238A>T (p.Asn80Tyr)
n.499A>T
21g.44333117T>CCA410456637CFAP410c.289A>G (p.Asn97Asp)
n.2460A>G
n.348A>G
n.405A>G
c.166A>G (p.Asn56Asp)
c.364A>G (p.Asn122Asp)
c.-36A>G (n.-36A>G)
n.492A>G
c.493A>G (p.Asn165Asp)
c.238A>G (p.Asn80Asp)
n.499A>G
21g.44333117T>GCA410456638CFAP410c.289A>C (p.Asn97His)
n.2460A>C
n.348A>C
n.405A>C
c.166A>C (p.Asn56His)
c.364A>C (p.Asn122His)
c.-36A>C (n.-36A>C)
n.492A>C
c.493A>C (p.Asn165His)
c.238A>C (p.Asn80His)
n.499A>C
21g.44333117_44333121delCA10053739CFAP410c.285_289del (p.Glu96ProfsTer?)
n.2456_2460del
n.344_348del
n.401_405del
c.162_166del (p.Glu55ProfsTer?)
c.360_364del (p.Glu121ProfsTer?)
c.-40_-36del (n.-40_-36del)
n.488_492del
c.489_493del (p.Glu164ProfsTer?)
c.234_238del (p.Glu79ProfsTer?)
n.495_499del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333118C>ACA410456645CFAP410c.288G>T (p.Glu96Asp)
n.2459G>T
n.347G>T
n.404G>T
c.165G>T (p.Glu55Asp)
c.363G>T (p.Glu121Asp)
c.-37G>T (n.-37G>T)
n.491G>T
c.492G>T (p.Glu164Asp)
c.237G>T (p.Glu79Asp)
n.498G>T
21g.44333118C>GCA410456651CFAP410c.288G>C (p.Glu96Asp)
n.2459G>C
n.347G>C
n.404G>C
c.165G>C (p.Glu55Asp)
c.363G>C (p.Glu121Asp)
c.-37G>C (n.-37G>C)
n.491G>C
c.492G>C (p.Glu164Asp)
c.237G>C (p.Glu79Asp)
n.498G>C
21g.44333118C>TCA512670905CFAP410c.288G>A (p.Glu96=)
n.2459G>A
n.347G>A
n.404G>A
c.165G>A (p.Glu55=)
c.363G>A (p.Glu121=)
c.-37G>A (n.-37G>A)
n.491G>A
c.492G>A (p.Glu164=)
c.237G>A (p.Glu79=)
n.498G>A
21g.44333119T>ACA410456653CFAP410c.287A>T (p.Glu96Val)
n.2458A>T
n.346A>T
n.403A>T
c.164A>T (p.Glu55Val)
c.362A>T (p.Glu121Val)
c.-38A>T (n.-38A>T)
n.490A>T
c.491A>T (p.Glu164Val)
c.236A>T (p.Glu79Val)
n.497A>T
21g.44333119T>CCA410456655CFAP410c.287A>G (p.Glu96Gly)
n.2458A>G
n.346A>G
n.403A>G
c.164A>G (p.Glu55Gly)
c.362A>G (p.Glu121Gly)
c.-38A>G (n.-38A>G)
n.490A>G
c.491A>G (p.Glu164Gly)
c.236A>G (p.Glu79Gly)
n.497A>G
21g.44333119T>GCA410456657CFAP410c.287A>C (p.Glu96Ala)
n.2458A>C
n.346A>C
n.403A>C
c.164A>C (p.Glu55Ala)
c.362A>C (p.Glu121Ala)
c.-38A>C (n.-38A>C)
n.490A>C
c.491A>C (p.Glu164Ala)
c.236A>C (p.Glu79Ala)
n.497A>C
 gnomAD v4
21g.44333120C>ACA410456660CFAP410c.286G>T (p.Glu96Ter)
n.2457G>T
n.345G>T
n.402G>T
c.163G>T (p.Glu55Ter)
c.361G>T (p.Glu121Ter)
c.-39G>T (n.-39G>T)
n.489G>T
c.490G>T (p.Glu164Ter)
c.235G>T (p.Glu79Ter)
n.496G>T
21g.44333120C=CA2391590955CFAP410c.286G= (p.Glu96=)
n.2457G=
n.345G=
n.402G=
c.163G= (p.Glu55=)
c.361G= (p.Glu121=)
c.-39G= (n.-39G=)
n.489G=
c.490G= (p.Glu164=)
c.235G= (p.Glu79=)
n.496G=
21g.44333120C>GCA10053740CFAP410c.286G>C (p.Glu96Gln)
n.2457G>C
n.345G>C
n.402G>C
c.163G>C (p.Glu55Gln)
c.361G>C (p.Glu121Gln)
c.-39G>C (n.-39G>C)
n.489G>C
c.490G>C (p.Glu164Gln)
c.235G>C (p.Glu79Gln)
n.496G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44333120C>TCA410456670CFAP410c.286G>A (p.Glu96Lys)
n.2457G>A
n.345G>A
n.402G>A
c.163G>A (p.Glu55Lys)
c.361G>A (p.Glu121Lys)
c.-39G>A (n.-39G>A)
n.489G>A
c.490G>A (p.Glu164Lys)
c.235G>A (p.Glu79Lys)
n.496G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44333121G>ACA10053741CFAP410c.285C>T (p.Ala95=)
n.2456C>T
n.344C>T
n.401C>T
c.162C>T (p.Ala54=)
c.360C>T (p.Ala120=)
c.-40C>T (n.-40C>T)
n.488C>T
c.489C>T (p.Ala163=)
c.234C>T (p.Ala78=)
n.495C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333121G>CCA512670908CFAP410c.285C>G (p.Ala95=)
n.2456C>G
n.344C>G
n.401C>G
c.162C>G (p.Ala54=)
c.360C>G (p.Ala120=)
c.-40C>G (n.-40C>G)
n.488C>G
c.489C>G (p.Ala163=)
c.234C>G (p.Ala78=)
n.495C>G
 gnomAD v4
21g.44333121G=CA2391590956CFAP410c.285C= (p.Ala95=)
n.2456C=
n.344C=
n.401C=
c.162C= (p.Ala54=)
c.360C= (p.Ala120=)
c.-40C= (n.-40C=)
n.488C=
c.489C= (p.Ala163=)
c.234C= (p.Ala78=)
n.495C=
21g.44333121G>TCA512670909CFAP410c.285C>A (p.Ala95=)
n.2456C>A
n.344C>A
n.401C>A
c.162C>A (p.Ala54=)
c.360C>A (p.Ala120=)
c.-40C>A (n.-40C>A)
n.488C>A
c.489C>A (p.Ala163=)
c.234C>A (p.Ala78=)
n.495C>A
21g.44333122G>ACA410456681CFAP410c.284C>T (p.Ala95Val)
n.2455C>T
n.343C>T
n.400C>T
c.161C>T (p.Ala54Val)
c.359C>T (p.Ala120Val)
c.-41C>T (n.-41C>T)
n.487C>T
c.488C>T (p.Ala163Val)
c.233C>T (p.Ala78Val)
n.494C>T
21g.44333122G>CCA410456689CFAP410c.284C>G (p.Ala95Gly)
n.2455C>G
n.343C>G
n.400C>G
c.161C>G (p.Ala54Gly)
c.359C>G (p.Ala120Gly)
c.-41C>G (n.-41C>G)
n.487C>G
c.488C>G (p.Ala163Gly)
c.233C>G (p.Ala78Gly)
n.494C>G
21g.44333122G>TCA410456678CFAP410c.284C>A (p.Ala95Asp)
n.2455C>A
n.343C>A
n.400C>A
c.161C>A (p.Ala54Asp)
c.359C>A (p.Ala120Asp)
c.-41C>A (n.-41C>A)
n.487C>A
c.488C>A (p.Ala163Asp)
c.233C>A (p.Ala78Asp)
n.494C>A
21g.44333123C>ACA410456703CFAP410c.283G>T (p.Ala95Ser)
n.2454G>T
n.342G>T
n.399G>T
c.160G>T (p.Ala54Ser)
c.358G>T (p.Ala120Ser)
c.-42G>T (n.-42G>T)
n.486G>T
c.487G>T (p.Ala163Ser)
c.232G>T (p.Ala78Ser)
n.493G>T
21g.44333123C=CA2391590957CFAP410c.283G= (p.Ala95=)
n.2454G=
n.342G=
n.399G=
c.160G= (p.Ala54=)
c.358G= (p.Ala120=)
c.-42G= (n.-42G=)
n.486G=
c.487G= (p.Ala163=)
c.232G= (p.Ala78=)
n.493G=
21g.44333123C>GCA410456706CFAP410c.283G>C (p.Ala95Pro)
n.2454G>C
n.342G>C
n.399G>C
c.160G>C (p.Ala54Pro)
c.358G>C (p.Ala120Pro)
c.-42G>C (n.-42G>C)
n.486G>C
c.487G>C (p.Ala163Pro)
c.232G>C (p.Ala78Pro)
n.493G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333123C>TCA410456705CFAP410c.283G>A (p.Ala95Thr)
n.2454G>A
n.342G>A
n.399G>A
c.160G>A (p.Ala54Thr)
c.358G>A (p.Ala120Thr)
c.-42G>A (n.-42G>A)
n.486G>A
c.487G>A (p.Ala163Thr)
c.232G>A (p.Ala78Thr)
n.493G>A
 dbSNP
21g.44333124C>ACA512670913CFAP410c.282G>T (p.Leu94=)
n.2453G>T
n.341G>T
n.398G>T
c.159G>T (p.Leu53=)
c.357G>T (p.Leu119=)
c.-43G>T (n.-43G>T)
n.485G>T
c.486G>T (p.Leu162=)
c.231G>T (p.Leu77=)
n.492G>T
21g.44333124C=CA2391590958CFAP410c.282G= (p.Leu94=)
n.2453G=
n.341G=
n.398G=
c.159G= (p.Leu53=)
c.357G= (p.Leu119=)
c.-43G= (n.-43G=)
n.485G=
c.486G= (p.Leu162=)
c.231G= (p.Leu77=)
n.492G=
21g.44333124C>GCA512670914CFAP410c.282G>C (p.Leu94=)
n.2453G>C
n.341G>C
n.398G>C
c.159G>C (p.Leu53=)
c.357G>C (p.Leu119=)
c.-43G>C (n.-43G>C)
n.485G>C
c.486G>C (p.Leu162=)
c.231G>C (p.Leu77=)
n.492G>C
21g.44333124C>TCA10053742CFAP410c.282G>A (p.Leu94=)
n.2453G>A
n.341G>A
n.398G>A
c.159G>A (p.Leu53=)
c.357G>A (p.Leu119=)
c.-43G>A (n.-43G>A)
n.485G>A
c.486G>A (p.Leu162=)
c.231G>A (p.Leu77=)
n.492G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333125A=CA2391590959CFAP410c.281T= (p.Leu94=)
n.2452T=
n.340T=
n.397T=
c.158T= (p.Leu53=)
c.356T= (p.Leu119=)
c.-44T= (n.-44T=)
n.484T=
c.485T= (p.Leu162=)
c.230T= (p.Leu77=)
n.491T=
21g.44333125A>CCA410456710CFAP410c.281T>G (p.Leu94Arg)
n.2452T>G
n.340T>G
n.397T>G
c.158T>G (p.Leu53Arg)
c.356T>G (p.Leu119Arg)
c.-44T>G (n.-44T>G)
n.484T>G
c.485T>G (p.Leu162Arg)
c.230T>G (p.Leu77Arg)
n.491T>G
21g.44333125A>GCA410456714CFAP410c.281T>C (p.Leu94Pro)
n.2452T>C
n.340T>C
n.397T>C
c.158T>C (p.Leu53Pro)
c.356T>C (p.Leu119Pro)
c.-44T>C (n.-44T>C)
n.484T>C
c.485T>C (p.Leu162Pro)
c.230T>C (p.Leu77Pro)
n.491T>C
 dbSNP gnomAD v2 gnomAD v4
21g.44333125A>TCA410456722CFAP410c.281T>A (p.Leu94Gln)
n.2452T>A
n.340T>A
n.397T>A
c.158T>A (p.Leu53Gln)
c.356T>A (p.Leu119Gln)
c.-44T>A (n.-44T>A)
n.484T>A
c.485T>A (p.Leu162Gln)
c.230T>A (p.Leu77Gln)
n.491T>A
21g.44333126G>ACA512670915CFAP410c.280C>T (p.Leu94=)
n.2451C>T
n.339C>T
n.396C>T
c.157C>T (p.Leu53=)
c.355C>T (p.Leu119=)
c.-45C>T (n.-45C>T)
n.483C>T
c.484C>T (p.Leu162=)
c.229C>T (p.Leu77=)
n.490C>T
 gnomAD v4
21g.44333126G>CCA410456733CFAP410c.280C>G (p.Leu94Val)
n.2451C>G
n.339C>G
n.396C>G
c.157C>G (p.Leu53Val)
c.355C>G (p.Leu119Val)
c.-45C>G (n.-45C>G)
n.483C>G
c.484C>G (p.Leu162Val)
c.229C>G (p.Leu77Val)
n.490C>G
 gnomAD v4
21g.44333126G=CA2391590960CFAP410c.280C= (p.Leu94=)
n.2451C=
n.339C=
n.396C=
c.157C= (p.Leu53=)
c.355C= (p.Leu119=)
c.-45C= (n.-45C=)
n.483C=
c.484C= (p.Leu162=)
c.229C= (p.Leu77=)
n.490C=
21g.44333126G>TCA321784847CFAP410c.280C>A (p.Leu94Met)
n.2451C>A
n.339C>A
n.396C>A
c.157C>A (p.Leu53Met)
c.355C>A (p.Leu119Met)
c.-45C>A (n.-45C>A)
n.483C>A
c.484C>A (p.Leu162Met)
c.229C>A (p.Leu77Met)
n.490C>A
 dbSNP
21g.44333126_44333127insACA2391590961CFAP410c.279_280insT (p.Leu94SerfsTer?)
n.2450_2451insT
n.338_339insT
n.395_396insT
c.156_157insT (p.Leu53SerfsTer?)
c.354_355insT (p.Leu119SerfsTer?)
c.-46_-45insT (n.-46_-45insT)
n.482_483insT
c.483_484insT (p.Leu162SerfsTer?)
c.228_229insT (p.Leu77SerfsTer?)
n.489_490insT
 dbSNP
21g.44333127C>ACA410456739CFAP410c.279G>T (p.Trp93Cys)
n.2450G>T
n.338G>T
n.395G>T
c.156G>T (p.Trp52Cys)
c.354G>T (p.Trp118Cys)
c.-46G>T (n.-46G>T)
n.482G>T
c.483G>T (p.Trp161Cys)
c.228G>T (p.Trp76Cys)
n.489G>T
 ClinVar dbSNP gnomAD v4
21g.44333127C=CA2391590962CFAP410c.279G= (p.Trp93=)
n.2450G=
n.338G=
n.395G=
c.156G= (p.Trp52=)
c.354G= (p.Trp118=)
c.-46G= (n.-46G=)
n.482G=
c.483G= (p.Trp161=)
c.228G= (p.Trp76=)
n.489G=
21g.44333127C>GCA410456744CFAP410c.279G>C (p.Trp93Cys)
n.2450G>C
n.338G>C
n.395G>C
c.156G>C (p.Trp52Cys)
c.354G>C (p.Trp118Cys)
c.-46G>C (n.-46G>C)
n.482G>C
c.483G>C (p.Trp161Cys)
c.228G>C (p.Trp76Cys)
n.489G>C
21g.44333127C>TCA410456746CFAP410c.279G>A (p.Trp93Ter)
n.2450G>A
n.338G>A
n.395G>A
c.156G>A (p.Trp52Ter)
c.354G>A (p.Trp118Ter)
c.-46G>A (n.-46G>A)
n.482G>A
c.483G>A (p.Trp161Ter)
c.228G>A (p.Trp76Ter)
n.489G>A
21g.44333128C>ACA410456750CFAP410c.278G>T (p.Trp93Leu)
n.2449G>T
n.337G>T
n.394G>T
c.155G>T (p.Trp52Leu)
c.353G>T (p.Trp118Leu)
c.-47G>T (n.-47G>T)
n.481G>T
c.482G>T (p.Trp161Leu)
c.227G>T (p.Trp76Leu)
n.488G>T
 COSMIC
21g.44333128C=CA2391590963CFAP410c.278G= (p.Trp93=)
n.2449G=
n.337G=
n.394G=
c.155G= (p.Trp52=)
c.353G= (p.Trp118=)
c.-47G= (n.-47G=)
n.481G=
c.482G= (p.Trp161=)
c.227G= (p.Trp76=)
n.488G=
21g.44333128C>GCA410456758CFAP410c.278G>C (p.Trp93Ser)
n.2449G>C
n.337G>C
n.394G>C
c.155G>C (p.Trp52Ser)
c.353G>C (p.Trp118Ser)
c.-47G>C (n.-47G>C)
n.481G>C
c.482G>C (p.Trp161Ser)
c.227G>C (p.Trp76Ser)
n.488G>C
21g.44333128C>TCA410456760CFAP410c.278G>A (p.Trp93Ter)
n.2449G>A
n.337G>A
n.394G>A
c.155G>A (p.Trp52Ter)
c.353G>A (p.Trp118Ter)
c.-47G>A (n.-47G>A)
n.481G>A
c.482G>A (p.Trp161Ter)
c.227G>A (p.Trp76Ter)
n.488G>A
 dbSNP gnomAD v3 gnomAD v4
21g.44333129A=CA2391590964CFAP410c.277T= (p.Trp93=)
n.2448T=
n.336T=
n.393T=
c.154T= (p.Trp52=)
c.352T= (p.Trp118=)
c.-48T= (n.-48T=)
n.480T=
c.481T= (p.Trp161=)
c.226T= (p.Trp76=)
n.487T=
21g.44333129A>CCA410456763CFAP410c.277T>G (p.Trp93Gly)
n.2448T>G
n.336T>G
n.393T>G
c.154T>G (p.Trp52Gly)
c.352T>G (p.Trp118Gly)
c.-48T>G (n.-48T>G)
n.480T>G
c.481T>G (p.Trp161Gly)
c.226T>G (p.Trp76Gly)
n.487T>G
21g.44333129A>GCA410456765CFAP410c.277T>C (p.Trp93Arg)
n.2448T>C
n.336T>C
n.393T>C
c.154T>C (p.Trp52Arg)
c.352T>C (p.Trp118Arg)
c.-48T>C (n.-48T>C)
n.480T>C
c.481T>C (p.Trp161Arg)
c.226T>C (p.Trp76Arg)
n.487T>C
 ClinVar dbSNP gnomAD v4
21g.44333129A>TCA410456764CFAP410c.277T>A (p.Trp93Arg)
n.2448T>A
n.336T>A
n.393T>A
c.154T>A (p.Trp52Arg)
c.352T>A (p.Trp118Arg)
c.-48T>A (n.-48T>A)
n.480T>A
c.481T>A (p.Trp161Arg)
c.226T>A (p.Trp76Arg)
n.487T>A
21g.44333130C>ACA512670917CFAP410c.276G>T (p.Leu92=)
n.2447G>T
n.335G>T
n.392G>T
c.153G>T (p.Leu51=)
c.351G>T (p.Leu117=)
c.-49G>T (n.-49G>T)
n.479G>T
c.480G>T (p.Leu160=)
c.225G>T (p.Leu75=)
n.486G>T
21g.44333130C=CA2391590965CFAP410c.276G= (p.Leu92=)
n.2447G=
n.335G=
n.392G=
c.153G= (p.Leu51=)
c.351G= (p.Leu117=)
c.-49G= (n.-49G=)
n.479G=
c.480G= (p.Leu160=)
c.225G= (p.Leu75=)
n.486G=
21g.44333130C>GCA512670920CFAP410c.276G>C (p.Leu92=)
n.2447G>C
n.335G>C
n.392G>C
c.153G>C (p.Leu51=)
c.351G>C (p.Leu117=)
c.-49G>C (n.-49G>C)
n.479G>C
c.480G>C (p.Leu160=)
c.225G>C (p.Leu75=)
n.486G>C
21g.44333130C>TCA10053743CFAP410c.276G>A (p.Leu92=)
n.2447G>A
n.335G>A
n.392G>A
c.153G>A (p.Leu51=)
c.351G>A (p.Leu117=)
c.-49G>A (n.-49G>A)
n.479G>A
c.480G>A (p.Leu160=)
c.225G>A (p.Leu75=)
n.486G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333131A=CA2391590966CFAP410c.275T= (p.Leu92=)
n.2446T=
n.334T=
n.391T=
c.152T= (p.Leu51=)
c.350T= (p.Leu117=)
c.-50T= (n.-50T=)
n.478T=
c.479T= (p.Leu160=)
c.224T= (p.Leu75=)
n.485T=
21g.44333131A>CCA410456780CFAP410c.275T>G (p.Leu92Arg)
n.2446T>G
n.334T>G
n.391T>G
c.152T>G (p.Leu51Arg)
c.350T>G (p.Leu117Arg)
c.-50T>G (n.-50T>G)
n.478T>G
c.479T>G (p.Leu160Arg)
c.224T>G (p.Leu75Arg)
n.485T>G
 dbSNP
21g.44333131A>GCA321784851CFAP410c.275T>C (p.Leu92Pro)
n.2446T>C
n.334T>C
n.391T>C
c.152T>C (p.Leu51Pro)
c.350T>C (p.Leu117Pro)
c.-50T>C (n.-50T>C)
n.478T>C
c.479T>C (p.Leu160Pro)
c.224T>C (p.Leu75Pro)
n.485T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333131A>TCA410456781CFAP410c.275T>A (p.Leu92Gln)
n.2446T>A
n.334T>A
n.391T>A
c.152T>A (p.Leu51Gln)
c.350T>A (p.Leu117Gln)
c.-50T>A (n.-50T>A)
n.478T>A
c.479T>A (p.Leu160Gln)
c.224T>A (p.Leu75Gln)
n.485T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44333132G>ACA10053744CFAP410c.274C>T (p.Leu92=)
n.2445C>T
n.333C>T
n.390C>T
c.151C>T (p.Leu51=)
c.349C>T (p.Leu117=)
c.-51C>T (n.-51C>T)
n.477C>T
c.478C>T (p.Leu160=)
c.223C>T (p.Leu75=)
n.484C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44333132G>CCA410456786CFAP410c.274C>G (p.Leu92Val)
n.2445C>G
n.333C>G
n.390C>G
c.151C>G (p.Leu51Val)
c.349C>G (p.Leu117Val)
c.-51C>G (n.-51C>G)
n.477C>G
c.478C>G (p.Leu160Val)
c.223C>G (p.Leu75Val)
n.484C>G
 gnomAD v4
21g.44333132G=CA2391590967CFAP410c.274C= (p.Leu92=)
n.2445C=
n.333C=
n.390C=
c.151C= (p.Leu51=)
c.349C= (p.Leu117=)
c.-51C= (n.-51C=)
n.477C=
c.478C= (p.Leu160=)
c.223C= (p.Leu75=)
n.484C=
21g.44333132G>TCA410456793CFAP410c.274C>A (p.Leu92Met)
n.2445C>A
n.333C>A
n.390C>A
c.151C>A (p.Leu51Met)
c.349C>A (p.Leu117Met)
c.-51C>A (n.-51C>A)
n.477C>A
c.478C>A (p.Leu160Met)
c.223C>A (p.Leu75Met)
n.484C>A
21g.44333133C>ACA512670921CFAP410c.273G>T (p.Val91=)
n.2444G>T
n.332G>T
n.389G>T
c.150G>T (p.Val50=)
c.348G>T (p.Val116=)
c.-52G>T (n.-52G>T)
n.476G>T
c.477G>T (p.Val159=)
c.222G>T (p.Val74=)
n.483G>T
21g.44333133C>GCA512670923CFAP410c.273G>C (p.Val91=)
n.2444G>C
n.332G>C
n.389G>C
c.150G>C (p.Val50=)
c.348G>C (p.Val116=)
c.-52G>C (n.-52G>C)
n.476G>C
c.477G>C (p.Val159=)
c.222G>C (p.Val74=)
n.483G>C
21g.44333133C>TCA512670925CFAP410c.273G>A (p.Val91=)
n.2444G>A
n.332G>A
n.389G>A
c.150G>A (p.Val50=)
c.348G>A (p.Val116=)
c.-52G>A (n.-52G>A)
n.476G>A
c.477G>A (p.Val159=)
c.222G>A (p.Val74=)
n.483G>A
 ClinVar dbSNP gnomAD v4
21g.44333134A>CCA410456796CFAP410c.272T>G (p.Val91Gly)
n.2443T>G
n.331T>G
n.388T>G
c.149T>G (p.Val50Gly)
c.347T>G (p.Val116Gly)
c.-53T>G (n.-53T>G)
n.475T>G
c.476T>G (p.Val159Gly)
c.221T>G (p.Val74Gly)
n.482T>G
21g.44333134A>GCA410456797CFAP410c.272T>C (p.Val91Ala)
n.2443T>C
n.331T>C
n.388T>C
c.149T>C (p.Val50Ala)
c.347T>C (p.Val116Ala)
c.-53T>C (n.-53T>C)
n.475T>C
c.476T>C (p.Val159Ala)
c.221T>C (p.Val74Ala)
n.482T>C
21g.44333134A>TCA410456798CFAP410c.272T>A (p.Val91Glu)
n.2443T>A
n.331T>A
n.388T>A
c.149T>A (p.Val50Glu)
c.347T>A (p.Val116Glu)
c.-53T>A (n.-53T>A)
n.475T>A
c.476T>A (p.Val159Glu)
c.221T>A (p.Val74Glu)
n.482T>A
21g.44333135C>ACA410456801CFAP410c.271G>T (p.Val91Leu)
n.2442G>T
n.330G>T
n.387G>T
c.148G>T (p.Val50Leu)
c.346G>T (p.Val116Leu)
c.-54G>T (n.-54G>T)
n.474G>T
c.475G>T (p.Val159Leu)
c.220G>T (p.Val74Leu)
n.481G>T
21g.44333135C>GCA410456807CFAP410c.271G>C (p.Val91Leu)
n.2442G>C
n.330G>C
n.387G>C
c.148G>C (p.Val50Leu)
c.346G>C (p.Val116Leu)
c.-54G>C (n.-54G>C)
n.474G>C
c.475G>C (p.Val159Leu)
c.220G>C (p.Val74Leu)
n.481G>C
 gnomAD v4
21g.44333135C>TCA410456799CFAP410c.271G>A (p.Val91Met)
n.2442G>A
n.330G>A
n.387G>A
c.148G>A (p.Val50Met)
c.346G>A (p.Val116Met)
c.-54G>A (n.-54G>A)
n.474G>A
c.475G>A (p.Val159Met)
c.220G>A (p.Val74Met)
n.481G>A
 gnomAD v4

Number of alleles fetched