Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47566624C>A | CA2594347302 | ARAF | c.558-15C>A (n.558-15C>A) c.567-15C>A (n.567-15C>A) c.558C>A (p.Ser186Arg) c.-100-15C>A (n.-100-15C>A) | gnomAD v3 gnomAD v4 |
X | g.47566624C= | CA2427968691 | ARAF | c.558-15C= (n.558-15C=) c.567-15C= (n.567-15C=) c.558C= (p.Ser186=) c.-100-15C= (n.-100-15C=) | |
X | g.47566624C>G | CA329053020 | ARAF | c.558-15C>G (n.558-15C>G) c.567-15C>G (n.567-15C>G) c.558C>G (p.Ser186Arg) c.-100-15C>G (n.-100-15C>G) | dbSNP |
X | g.47566624C>T | CA2693580416 | ARAF | c.558-15C>T (n.558-15C>T) c.567-15C>T (n.567-15C>T) c.558C>T (p.Ser186=) c.-100-15C>T (n.-100-15C>T) | gnomAD v4 |
X | g.47566625C>A | CA2693580417 | ARAF | c.558-14C>A (n.558-14C>A) c.567-14C>A (n.567-14C>A) c.559C>A (p.Leu187Ile) c.-100-14C>A (n.-100-14C>A) | gnomAD v4 |
X | g.47566625C= | CA2427968692 | ARAF | c.558-14C= (n.558-14C=) c.567-14C= (n.567-14C=) c.559C= (p.Leu187=) c.-100-14C= (n.-100-14C=) | |
X | g.47566625C>T | CA329053039 | ARAF | c.558-14C>T (n.558-14C>T) c.567-14C>T (n.567-14C>T) c.559C>T (p.Leu187Phe) c.-100-14C>T (n.-100-14C>T) | dbSNP |
X | g.47566626T>C | CA2693580419 | ARAF | c.558-13T>C (n.558-13T>C) c.567-13T>C (n.567-13T>C) c.560T>C (p.Leu187Pro) c.-100-13T>C (n.-100-13T>C) | gnomAD v4 |
X | g.47566628del | CA2693580418 | ARAF | c.558-11del (n.558-11del) c.567-11del (n.567-11del) c.562del (p.Ser188ProfsTer?) c.-100-11del (n.-100-11del) | gnomAD v4 |
X | g.47566627T>G | CA2693580420 | ARAF | c.558-12T>G (n.558-12T>G) c.567-12T>G (n.567-12T>G) c.561T>G (p.Leu187=) c.-100-12T>G (n.-100-12T>G) | gnomAD v4 |
X | g.47566628T>C | CA2693580421 | ARAF | c.558-11T>C (n.558-11T>C) c.567-11T>C (n.567-11T>C) c.562T>C (p.Ser188Pro) c.-100-11T>C (n.-100-11T>C) | gnomAD v4 |
X | g.47566629C>A | CA2693580423 | ARAF | c.558-10C>A (n.558-10C>A) c.567-10C>A (n.567-10C>A) c.563C>A (p.Ser188Tyr) c.-100-10C>A (n.-100-10C>A) | gnomAD v4 |
X | g.47566629C= | CA2427968693 | ARAF | c.558-10C= (n.558-10C=) c.567-10C= (n.567-10C=) c.563C= (p.Ser188=) c.-100-10C= (n.-100-10C=) | |
X | g.47566629C>T | CA10398037 | ARAF | c.558-10C>T (n.558-10C>T) c.567-10C>T (n.567-10C>T) c.563C>T (p.Ser188Phe) c.-100-10C>T (n.-100-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566632del | CA2693580422 | ARAF | c.558-7del (n.558-7del) c.567-7del (n.567-7del) c.566del (p.Pro189LeufsTer?) c.-100-7del (n.-100-7del) | gnomAD v4 |
X | g.47566630C>A | CA2693580424 | ARAF | c.558-9C>A (n.558-9C>A) c.567-9C>A (n.567-9C>A) c.564C>A (p.Ser188=) c.-100-9C>A (n.-100-9C>A) | gnomAD v4 |
X | g.47566630C= | CA2427968694 | ARAF | c.558-9C= (n.558-9C=) c.567-9C= (n.567-9C=) c.564C= (p.Ser188=) c.-100-9C= (n.-100-9C=) | |
X | g.47566630C>T | CA10398038 | ARAF | c.558-9C>T (n.558-9C>T) c.567-9C>T (n.567-9C>T) c.564C>T (p.Ser188=) c.-100-9C>T (n.-100-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566631C= | CA2427968695 | ARAF | c.558-8C= (n.558-8C=) c.567-8C= (n.567-8C=) c.565C= (p.Pro189=) c.-100-8C= (n.-100-8C=) | |
X | g.47566631C>T | CA10398039 | ARAF | c.558-8C>T (n.558-8C>T) c.567-8C>T (n.567-8C>T) c.565C>T (p.Pro189Ser) c.-100-8C>T (n.-100-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566632C>A | CA2738526282 | ARAF | c.558-7C>A (n.558-7C>A) c.567-7C>A (n.567-7C>A) c.566C>A (p.Pro189His) c.-100-7C>A (n.-100-7C>A) | dbSNP |
X | g.47566632C>T | CA2693580425 | ARAF | c.558-7C>T (n.558-7C>T) c.567-7C>T (n.567-7C>T) c.566C>T (p.Pro189Leu) c.-100-7C>T (n.-100-7C>T) | gnomAD v4 |
X | g.47566633T>C | CA2693580426 | ARAF | c.558-6T>C (n.558-6T>C) c.567-6T>C (n.567-6T>C) c.567T>C (p.Pro189=) c.-100-6T>C (n.-100-6T>C) | gnomAD v4 |
X | g.47566634G>A | CA2693580427 | ARAF | c.558-5G>A (n.558-5G>A) c.567-5G>A (n.567-5G>A) c.568G>A (p.Gly190Ser) c.-100-5G>A (n.-100-5G>A) | gnomAD v4 |
X | g.47566635G>A | CA2579596414 | ARAF | c.558-4G>A (n.558-4G>A) c.567-4G>A (n.567-4G>A) c.569G>A (p.Gly190Asp) c.-100-4G>A (n.-100-4G>A) | dbSNP gnomAD v4 |
X | g.47566635G>C | CA875843334 | ARAF | c.558-4G>C (n.558-4G>C) c.567-4G>C (n.567-4G>C) c.569G>C (p.Gly190Ala) c.-100-4G>C (n.-100-4G>C) | dbSNP |
X | g.47566635G= | CA2427968696 | ARAF | c.558-4G= (n.558-4G=) c.567-4G= (n.567-4G=) c.569G= (p.Gly190=) c.-100-4G= (n.-100-4G=) | |
X | g.47566635G>T | CA2693580428 | ARAF | c.558-4G>T (n.558-4G>T) c.567-4G>T (n.567-4G>T) c.569G>T (p.Gly190Val) c.-100-4G>T (n.-100-4G>T) | gnomAD v4 |
X | g.47566636C>A | CA2693580429 | ARAF | c.558-3C>A (n.558-3C>A) c.567-3C>A (n.567-3C>A) c.570C>A (p.Gly190=) c.-100-3C>A (n.-100-3C>A) | gnomAD v4 |
X | g.47566636C= | CA2427968697 | ARAF | c.558-3C= (n.558-3C=) c.567-3C= (n.567-3C=) c.570C= (p.Gly190=) c.-100-3C= (n.-100-3C=) | |
X | g.47566636C>T | CA641482344 | ARAF | c.558-3C>T (n.558-3C>T) c.567-3C>T (n.567-3C>T) c.570C>T (p.Gly190=) c.-100-3C>T (n.-100-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566637A>C | CA412813157 | ARAF | c.558-2A>C (n.558-2A>C) c.567-2A>C (n.567-2A>C) c.571A>C (p.Ser191Arg) c.-100-2A>C (n.-100-2A>C) | |
X | g.47566637A>G | CA412813154 | ARAF | c.558-2A>G (n.558-2A>G) c.567-2A>G (n.567-2A>G) c.571A>G (p.Ser191Gly) c.-100-2A>G (n.-100-2A>G) | gnomAD v4 |
X | g.47566637A>T | CA412813156 | ARAF | c.558-2A>T (n.558-2A>T) c.567-2A>T (n.567-2A>T) c.571A>T (p.Ser191Cys) c.-100-2A>T (n.-100-2A>T) | |
X | g.47566638G>A | CA412813159 | ARAF | c.558-1G>A (n.558-1G>A) c.567-1G>A (n.567-1G>A) c.572G>A (p.Ser191Asn) c.-100-1G>A (n.-100-1G>A) | gnomAD v4 |
X | g.47566638G>C | CA412813160 | ARAF | c.558-1G>C (n.558-1G>C) c.567-1G>C (n.567-1G>C) c.572G>C (p.Ser191Thr) c.-100-1G>C (n.-100-1G>C) | |
X | g.47566638G>T | CA412813162 | ARAF | c.558-1G>T (n.558-1G>T) c.567-1G>T (n.567-1G>T) c.572G>T (p.Ser191Ile) c.-100-1G>T (n.-100-1G>T) | gnomAD v4 |
X | g.47566639C>A | CA10398040 | ARAF | c.558C>A (p.Ser186Arg) c.567C>A (p.Ser189Arg) c.573C>A (p.Ser191Arg) c.-100C>A (n.-100C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566639C= | CA2427968698 | ARAF | c.558C= (p.Ser186=) c.567C= (p.Ser189=) c.573C= (p.Ser191=) c.-100C= (n.-100C=) | |
X | g.47566639C>G | CA412813164 | ARAF | c.558C>G (p.Ser186Arg) c.567C>G (p.Ser189Arg) c.573C>G (p.Ser191Arg) c.-100C>G (n.-100C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566639C>T | CA515989036 | ARAF | c.558C>T (p.Ser186=) c.567C>T (p.Ser189=) c.573C>T (p.Ser191=) c.-100C>T (n.-100C>T) | dbSNP gnomAD v4 |
X | g.47566643dup | CA2832580869 | ARAF | c.562dup (p.Arg188ProfsTer6) c.571dup (p.Arg191ProfsTer6) c.577dup (p.Arg193ProfsTer6) c.-96dup (n.-96dup) | |
X | g.47566643del | CA2693580430 | ARAF | c.562del (p.Arg188AlafsTer?) c.571del (p.Arg191AlafsTer?) c.577del (p.Arg193AlafsTer?) c.-96del (n.-96del) | gnomAD v4 |
X | g.47566640C>A | CA412813166 | ARAF | c.559C>A (p.Pro187Thr) c.568C>A (p.Pro190Thr) c.574C>A (p.Pro192Thr) c.-99C>A (n.-99C>A) | |
X | g.47566640C= | CA2427968699 | ARAF | c.559C= (p.Pro187=) c.568C= (p.Pro190=) c.574C= (p.Pro192=) c.-99C= (n.-99C=) | |
X | g.47566640C>G | CA412813168 | ARAF | c.559C>G (p.Pro187Ala) c.568C>G (p.Pro190Ala) c.574C>G (p.Pro192Ala) c.-99C>G (n.-99C>G) | |
X | g.47566640C>T | CA10398041 | ARAF | c.559C>T (p.Pro187Ser) c.568C>T (p.Pro190Ser) c.574C>T (p.Pro192Ser) c.-99C>T (n.-99C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566641C>A | CA412813170 | ARAF | c.560C>A (p.Pro187His) c.569C>A (p.Pro190His) c.575C>A (p.Pro192His) c.-98C>A (n.-98C>A) | |
X | g.47566641C>G | CA412813172 | ARAF | c.560C>G (p.Pro187Arg) c.569C>G (p.Pro190Arg) c.575C>G (p.Pro192Arg) c.-98C>G (n.-98C>G) | |
X | g.47566641C>T | CA412813173 | ARAF | c.560C>T (p.Pro187Leu) c.569C>T (p.Pro190Leu) c.575C>T (p.Pro192Leu) c.-98C>T (n.-98C>T) | |
X | g.47566642C>A | CA515989043 | ARAF | c.561C>A (p.Pro187=) c.570C>A (p.Pro190=) c.576C>A (p.Pro192=) c.-97C>A (n.-97C>A) | gnomAD v4 |
X | g.47566642C= | CA2427968700 | ARAF | c.561C= (p.Pro187=) c.570C= (p.Pro190=) c.576C= (p.Pro192=) c.-97C= (n.-97C=) | |
X | g.47566642C>G | CA515989044 | ARAF | c.561C>G (p.Pro187=) c.570C>G (p.Pro190=) c.576C>G (p.Pro192=) c.-97C>G (n.-97C>G) | |
X | g.47566642C>T | CA515989045 | ARAF | c.561C>T (p.Pro187=) c.570C>T (p.Pro190=) c.576C>T (p.Pro192=) c.-97C>T (n.-97C>T) | dbSNP gnomAD v4 |
X | g.47566643C>A | CA10398043 | ARAF | c.562C>A (p.Arg188Ser) c.571C>A (p.Arg191Ser) c.577C>A (p.Arg193Ser) c.-96C>A (n.-96C>A) | dbSNP ExAC gnomAD v4 |
X | g.47566643C= | CA2427968701 | ARAF | c.562C= (p.Arg188=) c.571C= (p.Arg191=) c.577C= (p.Arg193=) c.-96C= (n.-96C=) | |
X | g.47566643C>G | CA412813175 | ARAF | c.562C>G (p.Arg188Gly) c.571C>G (p.Arg191Gly) c.577C>G (p.Arg193Gly) c.-96C>G (n.-96C>G) | gnomAD v4 |
X | g.47566643C>T | CA10398042 | ARAF | c.562C>T (p.Arg188Cys) c.571C>T (p.Arg191Cys) c.577C>T (p.Arg193Cys) c.-96C>T (n.-96C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566644G>A | CA10398044 | ARAF | c.563G>A (p.Arg188His) c.572G>A (p.Arg191His) c.578G>A (p.Arg193His) c.-95G>A (n.-95G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.47566644G>C | CA412813179 | ARAF | c.563G>C (p.Arg188Pro) c.572G>C (p.Arg191Pro) c.578G>C (p.Arg193Pro) c.-95G>C (n.-95G>C) | dbSNP |
X | g.47566644G= | CA2427968702 | ARAF | c.563G= (p.Arg188=) c.572G= (p.Arg191=) c.578G= (p.Arg193=) c.-95G= (n.-95G=) | |
X | g.47566644G>T | CA412813180 | ARAF | c.563G>T (p.Arg188Leu) c.572G>T (p.Arg191Leu) c.578G>T (p.Arg193Leu) c.-95G>T (n.-95G>T) | dbSNP gnomAD v4 |
X | g.47566645C>A | CA515989051 | ARAF | c.564C>A (p.Arg188=) c.573C>A (p.Arg191=) c.579C>A (p.Arg193=) c.-94C>A (n.-94C>A) | dbSNP gnomAD v4 |
X | g.47566645C= | CA2427968703 | ARAF | c.564C= (p.Arg188=) c.573C= (p.Arg191=) c.579C= (p.Arg193=) c.-94C= (n.-94C=) | |
X | g.47566645C>G | CA515989055 | ARAF | c.564C>G (p.Arg188=) c.573C>G (p.Arg191=) c.579C>G (p.Arg193=) c.-94C>G (n.-94C>G) | |
X | g.47566645C>T | CA515989053 | ARAF | c.564C>T (p.Arg188=) c.573C>T (p.Arg191=) c.579C>T (p.Arg193=) c.-94C>T (n.-94C>T) | gnomAD v4 |
X | g.47566646A>C | CA412813181 | ARAF | c.565A>C (p.Thr189Pro) c.574A>C (p.Thr192Pro) c.580A>C (p.Thr194Pro) c.-93A>C (n.-93A>C) | dbSNP gnomAD v4 |
X | g.47566646A>G | CA412813182 | ARAF | c.565A>G (p.Thr189Ala) c.574A>G (p.Thr192Ala) c.580A>G (p.Thr194Ala) c.-93A>G (n.-93A>G) | |
X | g.47566646A>T | CA412813184 | ARAF | c.565A>T (p.Thr189Ser) c.574A>T (p.Thr192Ser) c.580A>T (p.Thr194Ser) c.-93A>T (n.-93A>T) | |
X | g.47566647C>A | CA412813186 | ARAF | c.566C>A (p.Thr189Asn) c.575C>A (p.Thr192Asn) c.581C>A (p.Thr194Asn) c.-92C>A (n.-92C>A) | gnomAD v4 |
X | g.47566647C>G | CA412813187 | ARAF | c.566C>G (p.Thr189Ser) c.575C>G (p.Thr192Ser) c.581C>G (p.Thr194Ser) c.-92C>G (n.-92C>G) | |
X | g.47566647C>T | CA412813189 | ARAF | c.566C>T (p.Thr189Ile) c.575C>T (p.Thr192Ile) c.581C>T (p.Thr194Ile) c.-92C>T (n.-92C>T) | gnomAD v4 |
X | g.47566648C>A | CA515989061 | ARAF | c.567C>A (p.Thr189=) c.576C>A (p.Thr192=) c.582C>A (p.Thr194=) c.-91C>A (n.-91C>A) | gnomAD v4 |
X | g.47566648C= | CA2427968704 | ARAF | c.567C= (p.Thr189=) c.576C= (p.Thr192=) c.582C= (p.Thr194=) c.-91C= (n.-91C=) | |
X | g.47566648C>G | CA515989062 | ARAF | c.567C>G (p.Thr189=) c.576C>G (p.Thr192=) c.582C>G (p.Thr194=) c.-91C>G (n.-91C>G) | |
X | g.47566648C>T | CA10398045 | ARAF | c.567C>T (p.Thr189=) c.576C>T (p.Thr192=) c.582C>T (p.Thr194=) c.-91C>T (n.-91C>T) | dbSNP ExAC gnomAD v2 |
X | g.47566649C>A | CA412813191 | ARAF | c.568C>A (p.Gln190Lys) c.577C>A (p.Gln193Lys) c.583C>A (p.Gln195Lys) c.-90C>A (n.-90C>A) | gnomAD v4 |
X | g.47566649C>G | CA412813193 | ARAF | c.568C>G (p.Gln190Glu) c.577C>G (p.Gln193Glu) c.583C>G (p.Gln195Glu) c.-90C>G (n.-90C>G) | |
X | g.47566649C>T | CA412813195 | ARAF | c.568C>T (p.Gln190Ter) c.577C>T (p.Gln193Ter) c.583C>T (p.Gln195Ter) c.-90C>T (n.-90C>T) | |
X | g.47566650A= | CA2427968705 | ARAF | c.569A= (p.Gln190=) c.578A= (p.Gln193=) c.584A= (p.Gln195=) c.-89A= (n.-89A=) | |
X | g.47566650A>C | CA329053084 | ARAF | c.569A>C (p.Gln190Pro) c.578A>C (p.Gln193Pro) c.584A>C (p.Gln195Pro) c.-89A>C (n.-89A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566650A>G | CA412813198 | ARAF | c.569A>G (p.Gln190Arg) c.578A>G (p.Gln193Arg) c.584A>G (p.Gln195Arg) c.-89A>G (n.-89A>G) | |
X | g.47566650A>T | CA412813196 | ARAF | c.569A>T (p.Gln190Leu) c.578A>T (p.Gln193Leu) c.584A>T (p.Gln195Leu) c.-89A>T (n.-89A>T) | |
X | g.47566651G>A | CA515989064 | ARAF | c.570G>A (p.Gln190=) c.579G>A (p.Gln193=) c.585G>A (p.Gln195=) c.-88G>A (n.-88G>A) | gnomAD v4 |
X | g.47566651G>C | CA412813200 | ARAF | c.570G>C (p.Gln190His) c.579G>C (p.Gln193His) c.585G>C (p.Gln195His) c.-88G>C (n.-88G>C) | |
X | g.47566651G= | CA2427968706 | ARAF | c.570G= (p.Gln190=) c.579G= (p.Gln193=) c.585G= (p.Gln195=) c.-88G= (n.-88G=) | |
X | g.47566651G>T | CA10398046 | ARAF | c.570G>T (p.Gln190His) c.579G>T (p.Gln193His) c.585G>T (p.Gln195His) c.-88G>T (n.-88G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566652C>A | CA412813202 | ARAF | c.571C>A (p.His191Asn) c.580C>A (p.His194Asn) c.586C>A (p.His196Asn) c.-87C>A (n.-87C>A) | dbSNP |
X | g.47566652C= | CA2427968707 | ARAF | c.571C= (p.His191=) c.580C= (p.His194=) c.586C= (p.His196=) c.-87C= (n.-87C=) | |
X | g.47566652C>G | CA412813204 | ARAF | c.571C>G (p.His191Asp) c.580C>G (p.His194Asp) c.586C>G (p.His196Asp) c.-87C>G (n.-87C>G) | |
X | g.47566652C>T | CA10398047 | ARAF | c.571C>T (p.His191Tyr) c.580C>T (p.His194Tyr) c.586C>T (p.His196Tyr) c.-87C>T (n.-87C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566653A>C | CA412813206 | ARAF | c.572A>C (p.His191Pro) c.581A>C (p.His194Pro) c.587A>C (p.His196Pro) c.-86A>C (n.-86A>C) | |
X | g.47566653A>G | CA412813207 | ARAF | c.572A>G (p.His191Arg) c.581A>G (p.His194Arg) c.587A>G (p.His196Arg) c.-86A>G (n.-86A>G) | |
X | g.47566653A>T | CA412813209 | ARAF | c.572A>T (p.His191Leu) c.581A>T (p.His194Leu) c.587A>T (p.His196Leu) c.-86A>T (n.-86A>T) | |
X | g.47566654C>A | CA412813211 | ARAF | c.573C>A (p.His191Gln) c.582C>A (p.His194Gln) c.588C>A (p.His196Gln) c.-85C>A (n.-85C>A) | |
X | g.47566654C>G | CA412813213 | ARAF | c.573C>G (p.His191Gln) c.582C>G (p.His194Gln) c.588C>G (p.His196Gln) c.-85C>G (n.-85C>G) | |
X | g.47566654C>T | CA515989072 | ARAF | c.573C>T (p.His191=) c.582C>T (p.His194=) c.588C>T (p.His196=) c.-85C>T (n.-85C>T) | |
X | g.47566655T>A | CA412813214 | ARAF | c.574T>A (p.Cys192Ser) c.583T>A (p.Cys195Ser) c.589T>A (p.Cys197Ser) c.-84T>A (n.-84T>A) | |
X | g.47566655T>C | CA412813216 | ARAF | c.574T>C (p.Cys192Arg) c.583T>C (p.Cys195Arg) c.589T>C (p.Cys197Arg) c.-84T>C (n.-84T>C) | |
X | g.47566655T>G | CA412813218 | ARAF | c.574T>G (p.Cys192Gly) c.583T>G (p.Cys195Gly) c.589T>G (p.Cys197Gly) c.-84T>G (n.-84T>G) | |
X | g.47566656G>A | CA412813219 | ARAF | c.575G>A (p.Cys192Tyr) c.584G>A (p.Cys195Tyr) c.590G>A (p.Cys197Tyr) c.-83G>A (n.-83G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566656G>C | CA412813221 | ARAF | c.575G>C (p.Cys192Ser) c.584G>C (p.Cys195Ser) c.590G>C (p.Cys197Ser) c.-83G>C (n.-83G>C) | |
X | g.47566656G= | CA2427968708 | ARAF | c.575G= (p.Cys192=) c.584G= (p.Cys195=) c.590G= (p.Cys197=) c.-83G= (n.-83G=) | |
X | g.47566656G>T | CA412813220 | ARAF | c.575G>T (p.Cys192Phe) c.584G>T (p.Cys195Phe) c.590G>T (p.Cys197Phe) c.-83G>T (n.-83G>T) | |
X | g.47566657T>A | CA412813223 | ARAF | c.576T>A (p.Cys192Ter) c.585T>A (p.Cys195Ter) c.591T>A (p.Cys197Ter) c.-82T>A (n.-82T>A) | |
X | g.47566657T>C | CA515989077 | ARAF | c.576T>C (p.Cys192=) c.585T>C (p.Cys195=) c.591T>C (p.Cys197=) c.-82T>C (n.-82T>C) | |
X | g.47566657T>G | CA412813225 | ARAF | c.576T>G (p.Cys192Trp) c.585T>G (p.Cys195Trp) c.591T>G (p.Cys197Trp) c.-82T>G (n.-82T>G) | |
X | g.47566658G>A | CA412813227 | ARAF | c.577G>A (p.Asp193Asn) c.586G>A (p.Asp196Asn) c.592G>A (p.Asp198Asn) c.-81G>A (n.-81G>A) | |
X | g.47566658G>C | CA412813228 | ARAF | c.577G>C (p.Asp193His) c.586G>C (p.Asp196His) c.592G>C (p.Asp198His) c.-81G>C (n.-81G>C) | gnomAD v4 |
X | g.47566658G>T | CA412813230 | ARAF | c.577G>T (p.Asp193Tyr) c.586G>T (p.Asp196Tyr) c.592G>T (p.Asp198Tyr) c.-81G>T (n.-81G>T) | |
X | g.47566659A>C | CA412813231 | ARAF | c.578A>C (p.Asp193Ala) c.587A>C (p.Asp196Ala) c.593A>C (p.Asp198Ala) c.-80A>C (n.-80A>C) | dbSNP |
X | g.47566659A>G | CA412813233 | ARAF | c.578A>G (p.Asp193Gly) c.587A>G (p.Asp196Gly) c.593A>G (p.Asp198Gly) c.-80A>G (n.-80A>G) | |
X | g.47566659A>T | CA412813235 | ARAF | c.578A>T (p.Asp193Val) c.587A>T (p.Asp196Val) c.593A>T (p.Asp198Val) c.-80A>T (n.-80A>T) | dbSNP |
X | g.47566660C>A | CA412813236 | ARAF | c.579C>A (p.Asp193Glu) c.588C>A (p.Asp196Glu) c.594C>A (p.Asp198Glu) c.-79C>A (n.-79C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566660C= | CA2427968709 | ARAF | c.579C= (p.Asp193=) c.588C= (p.Asp196=) c.594C= (p.Asp198=) c.-79C= (n.-79C=) | |
X | g.47566660C>G | CA412813237 | ARAF | c.579C>G (p.Asp193Glu) c.588C>G (p.Asp196Glu) c.594C>G (p.Asp198Glu) c.-79C>G (n.-79C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566660C>T | CA515989080 | ARAF | c.579C>T (p.Asp193=) c.588C>T (p.Asp196=) c.594C>T (p.Asp198=) c.-79C>T (n.-79C>T) | |
X | g.47566661C>A | CA412813241 | ARAF | c.580C>A (p.Pro194Thr) c.589C>A (p.Pro197Thr) c.595C>A (p.Pro199Thr) c.-78C>A (n.-78C>A) | gnomAD v4 |
X | g.47566661C>G | CA412813242 | ARAF | c.580C>G (p.Pro194Ala) c.589C>G (p.Pro197Ala) c.595C>G (p.Pro199Ala) c.-78C>G (n.-78C>G) | |
X | g.47566661C>T | CA412813240 | ARAF | c.580C>T (p.Pro194Ser) c.589C>T (p.Pro197Ser) c.595C>T (p.Pro199Ser) c.-78C>T (n.-78C>T) | |
X | g.47566662C>A | CA412813247 | ARAF | c.581C>A (p.Pro194Gln) c.590C>A (p.Pro197Gln) c.596C>A (p.Pro199Gln) c.-77C>A (n.-77C>A) | gnomAD v4 |
X | g.47566662C= | CA2427968710 | ARAF | c.581C= (p.Pro194=) c.590C= (p.Pro197=) c.596C= (p.Pro199=) c.-77C= (n.-77C=) | |
X | g.47566662C>G | CA412813244 | ARAF | c.581C>G (p.Pro194Arg) c.590C>G (p.Pro197Arg) c.596C>G (p.Pro199Arg) c.-77C>G (n.-77C>G) | |
X | g.47566662C>T | CA10398048 | ARAF | c.581C>T (p.Pro194Leu) c.590C>T (p.Pro197Leu) c.596C>T (p.Pro199Leu) c.-77C>T (n.-77C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566663G>A | CA515989082 | ARAF | c.582G>A (p.Pro194=) c.591G>A (p.Pro197=) c.597G>A (p.Pro199=) c.-76G>A (n.-76G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566663G>C | CA515989083 | ARAF | c.582G>C (p.Pro194=) c.591G>C (p.Pro197=) c.597G>C (p.Pro199=) c.-76G>C (n.-76G>C) | dbSNP |
X | g.47566663G= | CA2427968711 | ARAF | c.582G= (p.Pro194=) c.591G= (p.Pro197=) c.597G= (p.Pro199=) c.-76G= (n.-76G=) | |
X | g.47566663G>T | CA515989084 | ARAF | c.582G>T (p.Pro194=) c.591G>T (p.Pro197=) c.597G>T (p.Pro199=) c.-76G>T (n.-76G>T) | |
X | g.47566664G>A | CA412813248 | ARAF | c.583G>A (p.Glu195Lys) c.592G>A (p.Glu198Lys) c.598G>A (p.Glu200Lys) c.-75G>A (n.-75G>A) | gnomAD v4 |
X | g.47566664G>C | CA412813249 | ARAF | c.583G>C (p.Glu195Gln) c.592G>C (p.Glu198Gln) c.598G>C (p.Glu200Gln) c.-75G>C (n.-75G>C) | |
X | g.47566664G>T | CA412813250 | ARAF | c.583G>T (p.Glu195Ter) c.592G>T (p.Glu198Ter) c.598G>T (p.Glu200Ter) c.-75G>T (n.-75G>T) | |
X | g.47566665A>C | CA412813252 | ARAF | c.584A>C (p.Glu195Ala) c.593A>C (p.Glu198Ala) c.599A>C (p.Glu200Ala) c.-74A>C (n.-74A>C) | |
X | g.47566665A>G | CA412813253 | ARAF | c.584A>G (p.Glu195Gly) c.593A>G (p.Glu198Gly) c.599A>G (p.Glu200Gly) c.-74A>G (n.-74A>G) | dbSNP gnomAD v4 |
X | g.47566665A>T | CA412813255 | ARAF | c.584A>T (p.Glu195Val) c.593A>T (p.Glu198Val) c.599A>T (p.Glu200Val) c.-74A>T (n.-74A>T) | |
X | g.47566666G>A | CA515989086 | ARAF | c.585G>A (p.Glu195=) c.594G>A (p.Glu198=) c.600G>A (p.Glu200=) c.-73G>A (n.-73G>A) | |
X | g.47566666G>C | CA412813256 | ARAF | c.585G>C (p.Glu195Asp) c.594G>C (p.Glu198Asp) c.600G>C (p.Glu200Asp) c.-73G>C (n.-73G>C) | |
X | g.47566666G>T | CA412813257 | ARAF | c.585G>T (p.Glu195Asp) c.594G>T (p.Glu198Asp) c.600G>T (p.Glu200Asp) c.-73G>T (n.-73G>T) | |
X | g.47566667C>A | CA412813259 | ARAF | c.586C>A (p.His196Asn) c.595C>A (p.His199Asn) c.601C>A (p.His201Asn) c.-72C>A (n.-72C>A) | gnomAD v4 |
X | g.47566667C>G | CA412813260 | ARAF | c.586C>G (p.His196Asp) c.595C>G (p.His199Asp) c.601C>G (p.His201Asp) c.-72C>G (n.-72C>G) | |
X | g.47566667C>T | CA412813262 | ARAF | c.586C>T (p.His196Tyr) c.595C>T (p.His199Tyr) c.601C>T (p.His201Tyr) c.-72C>T (n.-72C>T) | dbSNP gnomAD v4 |
X | g.47566668A>C | CA412813264 | ARAF | c.587A>C (p.His196Pro) c.596A>C (p.His199Pro) c.602A>C (p.His201Pro) c.-71A>C (n.-71A>C) | |
X | g.47566668A>G | CA412813266 | ARAF | c.587A>G (p.His196Arg) c.596A>G (p.His199Arg) c.602A>G (p.His201Arg) c.-71A>G (n.-71A>G) | |
X | g.47566668A>T | CA412813265 | ARAF | c.587A>T (p.His196Leu) c.596A>T (p.His199Leu) c.602A>T (p.His201Leu) c.-71A>T (n.-71A>T) | |
X | g.47566669C>A | CA412813268 | ARAF | c.588C>A (p.His196Gln) c.597C>A (p.His199Gln) c.603C>A (p.His201Gln) c.-70C>A (n.-70C>A) | gnomAD v4 |
X | g.47566669C= | CA2427968712 | ARAF | c.588C= (p.His196=) c.597C= (p.His199=) c.603C= (p.His201=) c.-70C= (n.-70C=) | |
X | g.47566669C>G | CA412813270 | ARAF | c.588C>G (p.His196Gln) c.597C>G (p.His199Gln) c.603C>G (p.His201Gln) c.-70C>G (n.-70C>G) | |
X | g.47566669C>T | CA10398049 | ARAF | c.588C>T (p.His196=) c.597C>T (p.His199=) c.603C>T (p.His201=) c.-70C>T (n.-70C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566670T>A | CA412813272 | ARAF | c.589T>A (p.Phe197Ile) c.598T>A (p.Phe200Ile) c.604T>A (p.Phe202Ile) c.-69T>A (n.-69T>A) | |
X | g.47566670T>C | CA412813273 | ARAF | c.589T>C (p.Phe197Leu) c.598T>C (p.Phe200Leu) c.604T>C (p.Phe202Leu) c.-69T>C (n.-69T>C) | dbSNP gnomAD v4 |
X | g.47566670T>G | CA412813275 | ARAF | c.589T>G (p.Phe197Val) c.598T>G (p.Phe200Val) c.604T>G (p.Phe202Val) c.-69T>G (n.-69T>G) | |
X | g.47566671T>A | CA412813277 | ARAF | c.590T>A (p.Phe197Tyr) c.599T>A (p.Phe200Tyr) c.605T>A (p.Phe202Tyr) c.-68T>A (n.-68T>A) | |
X | g.47566671T>C | CA412813278 | ARAF | c.590T>C (p.Phe197Ser) c.599T>C (p.Phe200Ser) c.605T>C (p.Phe202Ser) c.-68T>C (n.-68T>C) | gnomAD v4 |
X | g.47566671T>G | CA412813279 | ARAF | c.590T>G (p.Phe197Cys) c.599T>G (p.Phe200Cys) c.605T>G (p.Phe202Cys) c.-68T>G (n.-68T>G) | |
X | g.47566672C>A | CA412813281 | ARAF | c.591C>A (p.Phe197Leu) c.600C>A (p.Phe200Leu) c.606C>A (p.Phe202Leu) c.-67C>A (n.-67C>A) | gnomAD v4 |
X | g.47566672C>G | CA412813283 | ARAF | c.591C>G (p.Phe197Leu) c.600C>G (p.Phe200Leu) c.606C>G (p.Phe202Leu) c.-67C>G (n.-67C>G) | |
X | g.47566672C>T | CA515989092 | ARAF | c.591C>T (p.Phe197=) c.600C>T (p.Phe200=) c.606C>T (p.Phe202=) c.-67C>T (n.-67C>T) | |
X | g.47566675del | CA515989093 | ARAF | c.594del (p.Phe199SerfsTer?) c.603del (p.Phe202SerfsTer?) c.609del (p.Phe204SerfsTer?) c.-64del (n.-64del) | COSMIC |
X | g.47566673C>A | CA412813286 | ARAF | c.592C>A (p.Pro198Thr) c.601C>A (p.Pro201Thr) c.607C>A (p.Pro203Thr) c.-66C>A (n.-66C>A) | gnomAD v4 |
X | g.47566673C>G | CA412813287 | ARAF | c.592C>G (p.Pro198Ala) c.601C>G (p.Pro201Ala) c.607C>G (p.Pro203Ala) c.-66C>G (n.-66C>G) | |
X | g.47566673C>T | CA412813285 | ARAF | c.592C>T (p.Pro198Ser) c.601C>T (p.Pro201Ser) c.607C>T (p.Pro203Ser) c.-66C>T (n.-66C>T) | gnomAD v4 |
X | g.47566674C>A | CA412813290 | ARAF | c.593C>A (p.Pro198His) c.602C>A (p.Pro201His) c.608C>A (p.Pro203His) c.-65C>A (n.-65C>A) | gnomAD v4 |
X | g.47566674C>G | CA412813291 | ARAF | c.593C>G (p.Pro198Arg) c.602C>G (p.Pro201Arg) c.608C>G (p.Pro203Arg) c.-65C>G (n.-65C>G) | |
X | g.47566674C>T | CA412813293 | ARAF | c.593C>T (p.Pro198Leu) c.602C>T (p.Pro201Leu) c.608C>T (p.Pro203Leu) c.-65C>T (n.-65C>T) | dbSNP gnomAD v4 |
X | g.47566675C>A | CA515989095 | ARAF | c.594C>A (p.Pro198=) c.603C>A (p.Pro201=) c.609C>A (p.Pro203=) c.-64C>A (n.-64C>A) | gnomAD v4 |
X | g.47566675C>G | CA515989096 | ARAF | c.594C>G (p.Pro198=) c.603C>G (p.Pro201=) c.609C>G (p.Pro203=) c.-64C>G (n.-64C>G) | |
X | g.47566675C>T | CA515989097 | ARAF | c.594C>T (p.Pro198=) c.603C>T (p.Pro201=) c.609C>T (p.Pro203=) c.-64C>T (n.-64C>T) | |
X | g.47566676T>A | CA412813294 | ARAF | c.595T>A (p.Phe199Ile) c.604T>A (p.Phe202Ile) c.610T>A (p.Phe204Ile) c.-63T>A (n.-63T>A) | |
X | g.47566676T>C | CA412813295 | ARAF | c.595T>C (p.Phe199Leu) c.604T>C (p.Phe202Leu) c.610T>C (p.Phe204Leu) c.-63T>C (n.-63T>C) | dbSNP gnomAD v4 |
X | g.47566676T>G | CA412813296 | ARAF | c.595T>G (p.Phe199Val) c.604T>G (p.Phe202Val) c.610T>G (p.Phe204Val) c.-63T>G (n.-63T>G) | |
X | g.47566677del | CA2693580431 | ARAF | c.596del (p.Phe199SerfsTer?) c.605del (p.Phe202SerfsTer?) c.611del (p.Phe204SerfsTer?) c.-62del (n.-62del) | gnomAD v4 |
X | g.47566677T>A | CA412813301 | ARAF | c.596T>A (p.Phe199Tyr) c.605T>A (p.Phe202Tyr) c.611T>A (p.Phe204Tyr) c.-62T>A (n.-62T>A) | |
X | g.47566677T>C | CA412813298 | ARAF | c.596T>C (p.Phe199Ser) c.605T>C (p.Phe202Ser) c.611T>C (p.Phe204Ser) c.-62T>C (n.-62T>C) | gnomAD v4 |
X | g.47566677T>G | CA412813300 | ARAF | c.596T>G (p.Phe199Cys) c.605T>G (p.Phe202Cys) c.611T>G (p.Phe204Cys) c.-62T>G (n.-62T>G) | |
X | g.47566678C>A | CA412813303 | ARAF | c.597C>A (p.Phe199Leu) c.606C>A (p.Phe202Leu) c.612C>A (p.Phe204Leu) c.-61C>A (n.-61C>A) | |
X | g.47566678C= | CA2427968713 | ARAF | c.597C= (p.Phe199=) c.606C= (p.Phe202=) c.612C= (p.Phe204=) c.-61C= (n.-61C=) | |
X | g.47566678C>G | CA412813304 | ARAF | c.597C>G (p.Phe199Leu) c.606C>G (p.Phe202Leu) c.612C>G (p.Phe204Leu) c.-61C>G (n.-61C>G) | |
X | g.47566678C>T | CA515989101 | ARAF | c.597C>T (p.Phe199=) c.606C>T (p.Phe202=) c.612C>T (p.Phe204=) c.-61C>T (n.-61C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.47566679C>A | CA412813306 | ARAF | c.598C>A (p.Pro200Thr) c.607C>A (p.Pro203Thr) c.613C>A (p.Pro205Thr) c.-60C>A (n.-60C>A) | gnomAD v4 |
X | g.47566679C>G | CA412813307 | ARAF | c.598C>G (p.Pro200Ala) c.607C>G (p.Pro203Ala) c.613C>G (p.Pro205Ala) c.-60C>G (n.-60C>G) | |
X | g.47566679C>T | CA412813308 | ARAF | c.598C>T (p.Pro200Ser) c.607C>T (p.Pro203Ser) c.613C>T (p.Pro205Ser) c.-60C>T (n.-60C>T) | |
X | g.47566680C>A | CA412813309 | ARAF | c.599C>A (p.Pro200His) c.608C>A (p.Pro203His) c.614C>A (p.Pro205His) c.-59C>A (n.-59C>A) | gnomAD v4 |
X | g.47566680C= | CA2427968714 | ARAF | c.599C= (p.Pro200=) c.608C= (p.Pro203=) c.614C= (p.Pro205=) c.-59C= (n.-59C=) | |
X | g.47566680C>G | CA10398050 | ARAF | c.599C>G (p.Pro200Arg) c.608C>G (p.Pro203Arg) c.614C>G (p.Pro205Arg) c.-59C>G (n.-59C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.47566680C>T | CA412813310 | ARAF | c.599C>T (p.Pro200Leu) c.608C>T (p.Pro203Leu) c.614C>T (p.Pro205Leu) c.-59C>T (n.-59C>T) | |
X | g.47566681T>A | CA515989102 | ARAF | c.600T>A (p.Pro200=) c.609T>A (p.Pro203=) c.615T>A (p.Pro205=) c.-58T>A (n.-58T>A) | |
X | g.47566681T>C | CA515989104 | ARAF | c.600T>C (p.Pro200=) c.609T>C (p.Pro203=) c.615T>C (p.Pro205=) c.-58T>C (n.-58T>C) | gnomAD v4 |
X | g.47566681T>G | CA515989103 | ARAF | c.600T>G (p.Pro200=) c.609T>G (p.Pro203=) c.615T>G (p.Pro205=) c.-58T>G (n.-58T>G) | |
X | g.47566682G>A | CA412813312 | ARAF | c.601G>A (p.Ala201Thr) c.610G>A (p.Ala204Thr) c.616G>A (p.Ala206Thr) c.-57G>A (n.-57G>A) | |
X | g.47566682G>C | CA412813313 | ARAF | c.601G>C (p.Ala201Pro) c.610G>C (p.Ala204Pro) c.616G>C (p.Ala206Pro) c.-57G>C (n.-57G>C) | dbSNP |
X | g.47566682G>T | CA412813314 | ARAF | c.601G>T (p.Ala201Ser) c.610G>T (p.Ala204Ser) c.616G>T (p.Ala206Ser) c.-57G>T (n.-57G>T) | gnomAD v4 |
X | g.47566683C>A | CA412813315 | ARAF | c.602C>A (p.Ala201Asp) c.611C>A (p.Ala204Asp) c.617C>A (p.Ala206Asp) c.-56C>A (n.-56C>A) | gnomAD v4 |
X | g.47566683C>G | CA412813316 | ARAF | c.602C>G (p.Ala201Gly) c.611C>G (p.Ala204Gly) c.617C>G (p.Ala206Gly) c.-56C>G (n.-56C>G) | |
X | g.47566683C>T | CA412813317 | ARAF | c.602C>T (p.Ala201Val) c.611C>T (p.Ala204Val) c.617C>T (p.Ala206Val) c.-56C>T (n.-56C>T) | dbSNP gnomAD v4 |
X | g.47566686del | CA2693580433 | ARAF | c.605del (p.Pro202GlnfsTer?) c.614del (p.Pro205GlnfsTer?) c.620del (p.Pro207GlnfsTer?) c.-53del (n.-53del) | gnomAD v4 |
X | g.47566687_47566699del | CA2693580432 | ARAF | c.606_618del (p.Ala203TyrfsTer?) c.615_627del (p.Ala206TyrfsTer?) c.621_633del (p.Ala208TyrfsTer?) c.-52_-40del (n.-52_-40del) | gnomAD v4 |
X | g.47566684C>A | CA515989108 | ARAF | c.603C>A (p.Ala201=) c.612C>A (p.Ala204=) c.618C>A (p.Ala206=) c.-55C>A (n.-55C>A) | gnomAD v4 |
X | g.47566684C>G | CA515989109 | ARAF | c.603C>G (p.Ala201=) c.612C>G (p.Ala204=) c.618C>G (p.Ala206=) c.-55C>G (n.-55C>G) | |
X | g.47566684C>T | CA515989110 | ARAF | c.603C>T (p.Ala201=) c.612C>T (p.Ala204=) c.618C>T (p.Ala206=) c.-55C>T (n.-55C>T) | gnomAD v4 |
X | g.47566685C>A | CA412813318 | ARAF | c.604C>A (p.Pro202Thr) c.613C>A (p.Pro205Thr) c.619C>A (p.Pro207Thr) c.-54C>A (n.-54C>A) | gnomAD v4 |
X | g.47566685C>G | CA412813319 | ARAF | c.604C>G (p.Pro202Ala) c.613C>G (p.Pro205Ala) c.619C>G (p.Pro207Ala) c.-54C>G (n.-54C>G) | |
X | g.47566685C>T | CA412813320 | ARAF | c.604C>T (p.Pro202Ser) c.613C>T (p.Pro205Ser) c.619C>T (p.Pro207Ser) c.-54C>T (n.-54C>T) | dbSNP gnomAD v4 |
X | g.47566686C>A | CA412813321 | ARAF | c.605C>A (p.Pro202Gln) c.614C>A (p.Pro205Gln) c.620C>A (p.Pro207Gln) c.-53C>A (n.-53C>A) | gnomAD v4 |
X | g.47566686C>G | CA412813322 | ARAF | c.605C>G (p.Pro202Arg) c.614C>G (p.Pro205Arg) c.620C>G (p.Pro207Arg) c.-53C>G (n.-53C>G) | |
X | g.47566686C>T | CA412813323 | ARAF | c.605C>T (p.Pro202Leu) c.614C>T (p.Pro205Leu) c.620C>T (p.Pro207Leu) c.-53C>T (n.-53C>T) | gnomAD v4 |
X | g.47566687A>C | CA515989112 | ARAF | c.606A>C (p.Pro202=) c.615A>C (p.Pro205=) c.621A>C (p.Pro207=) c.-52A>C (n.-52A>C) | dbSNP |
X | g.47566687A>G | CA515989113 | ARAF | c.606A>G (p.Pro202=) c.615A>G (p.Pro205=) c.621A>G (p.Pro207=) c.-52A>G (n.-52A>G) | |
X | g.47566687A>T | CA515989114 | ARAF | c.606A>T (p.Pro202=) c.615A>T (p.Pro205=) c.621A>T (p.Pro207=) c.-52A>T (n.-52A>T) | |
X | g.47566688G>A | CA329053113 | ARAF | c.607G>A (p.Ala203Thr) c.616G>A (p.Ala206Thr) c.622G>A (p.Ala208Thr) c.-51G>A (n.-51G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566688G>C | CA412813325 | ARAF | c.607G>C (p.Ala203Pro) c.616G>C (p.Ala206Pro) c.622G>C (p.Ala208Pro) c.-51G>C (n.-51G>C) | dbSNP |
X | g.47566688G= | CA2427968715 | ARAF | c.607G= (p.Ala203=) c.616G= (p.Ala206=) c.622G= (p.Ala208=) c.-51G= (n.-51G=) | |
X | g.47566688G>T | CA412813324 | ARAF | c.607G>T (p.Ala203Ser) c.616G>T (p.Ala206Ser) c.622G>T (p.Ala208Ser) c.-51G>T (n.-51G>T) | gnomAD v4 |
X | g.47566689C>A | CA412813326 | ARAF | c.608C>A (p.Ala203Asp) c.617C>A (p.Ala206Asp) c.623C>A (p.Ala208Asp) c.-50C>A (n.-50C>A) | gnomAD v4 |
X | g.47566689C>G | CA412813327 | ARAF | c.608C>G (p.Ala203Gly) c.617C>G (p.Ala206Gly) c.623C>G (p.Ala208Gly) c.-50C>G (n.-50C>G) | |
X | g.47566689C>T | CA412813328 | ARAF | c.608C>T (p.Ala203Val) c.617C>T (p.Ala206Val) c.623C>T (p.Ala208Val) c.-50C>T (n.-50C>T) | dbSNP |
X | g.47566690C>A | CA515989119 | ARAF | c.609C>A (p.Ala203=) c.618C>A (p.Ala206=) c.624C>A (p.Ala208=) c.-49C>A (n.-49C>A) | gnomAD v4 |
X | g.47566690C>G | CA515989120 | ARAF | c.609C>G (p.Ala203=) c.618C>G (p.Ala206=) c.624C>G (p.Ala208=) c.-49C>G (n.-49C>G) | |
X | g.47566690C>T | CA515989117 | ARAF | c.609C>T (p.Ala203=) c.618C>T (p.Ala206=) c.624C>T (p.Ala208=) c.-49C>T (n.-49C>T) | |
X | g.47566691A>C | CA412813329 | ARAF | c.610A>C (p.Asn204His) c.619A>C (p.Asn207His) c.625A>C (p.Asn209His) c.-48A>C (n.-48A>C) | dbSNP |
X | g.47566691A>G | CA412813330 | ARAF | c.610A>G (p.Asn204Asp) c.619A>G (p.Asn207Asp) c.625A>G (p.Asn209Asp) c.-48A>G (n.-48A>G) | |
X | g.47566691A>T | CA412813331 | ARAF | c.610A>T (p.Asn204Tyr) c.619A>T (p.Asn207Tyr) c.625A>T (p.Asn209Tyr) c.-48A>T (n.-48A>T) | |
X | g.47566692A>C | CA412813332 | ARAF | c.611A>C (p.Asn204Thr) c.620A>C (p.Asn207Thr) c.626A>C (p.Asn209Thr) c.-47A>C (n.-47A>C) | |
X | g.47566692A>G | CA412813333 | ARAF | c.611A>G (p.Asn204Ser) c.620A>G (p.Asn207Ser) c.626A>G (p.Asn209Ser) c.-47A>G (n.-47A>G) | gnomAD v4 |
X | g.47566692A>T | CA412813334 | ARAF | c.611A>T (p.Asn204Ile) c.620A>T (p.Asn207Ile) c.626A>T (p.Asn209Ile) c.-47A>T (n.-47A>T) | |
X | g.47566693T>A | CA412813335 | ARAF | c.612T>A (p.Asn204Lys) c.621T>A (p.Asn207Lys) c.627T>A (p.Asn209Lys) c.-46T>A (n.-46T>A) | |
X | g.47566693T>C | CA515989121 | ARAF | c.612T>C (p.Asn204=) c.621T>C (p.Asn207=) c.627T>C (p.Asn209=) c.-46T>C (n.-46T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566693T>G | CA412813336 | ARAF | c.612T>G (p.Asn204Lys) c.621T>G (p.Asn207Lys) c.627T>G (p.Asn209Lys) c.-46T>G (n.-46T>G) | |
X | g.47566693T= | CA2427968716 | ARAF | c.612T= (p.Asn204=) c.621T= (p.Asn207=) c.627T= (p.Asn209=) c.-46T= (n.-46T=) | |
X | g.47566694G>A | CA412813337 | ARAF | c.613G>A (p.Ala205Thr) c.622G>A (p.Ala208Thr) c.628G>A (p.Ala210Thr) c.-45G>A (n.-45G>A) | gnomAD v4 |
X | g.47566694G>C | CA412813338 | ARAF | c.613G>C (p.Ala205Pro) c.622G>C (p.Ala208Pro) c.628G>C (p.Ala210Pro) c.-45G>C (n.-45G>C) | dbSNP |
X | g.47566694G= | CA2427968717 | ARAF | c.613G= (p.Ala205=) c.622G= (p.Ala208=) c.628G= (p.Ala210=) c.-45G= (n.-45G=) | |
X | g.47566694G>T | CA412813339 | ARAF | c.613G>T (p.Ala205Ser) c.622G>T (p.Ala208Ser) c.628G>T (p.Ala210Ser) c.-45G>T (n.-45G>T) | |
X | g.47566695C>A | CA412813342 | ARAF | c.614C>A (p.Ala205Asp) c.623C>A (p.Ala208Asp) c.629C>A (p.Ala210Asp) c.-44C>A (n.-44C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566695C= | CA2427968718 | ARAF | c.614C= (p.Ala205=) c.623C= (p.Ala208=) c.629C= (p.Ala210=) c.-44C= (n.-44C=) | |
X | g.47566695C>G | CA412813341 | ARAF | c.614C>G (p.Ala205Gly) c.623C>G (p.Ala208Gly) c.629C>G (p.Ala210Gly) c.-44C>G (n.-44C>G) | |
X | g.47566695C>T | CA412813340 | ARAF | c.614C>T (p.Ala205Val) c.623C>T (p.Ala208Val) c.629C>T (p.Ala210Val) c.-44C>T (n.-44C>T) | dbSNP gnomAD v4 |
X | g.47566700dup | CA641482345 | ARAF | c.619dup (p.Leu207ProfsTer?) c.628dup (p.Leu210ProfsTer?) c.634dup (p.Leu212ProfsTer?) c.-39dup (n.-39dup) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566700del | CA515989124 | ARAF | c.619del (p.Leu207TyrfsTer?) c.628del (p.Leu210TyrfsTer?) c.634del (p.Leu212TyrfsTer?) c.-39del (n.-39del) | gnomAD v4 COSMIC |
X | g.47566696C>A | CA10398052 | ARAF | c.615C>A (p.Ala205=) c.624C>A (p.Ala208=) c.630C>A (p.Ala210=) c.-43C>A (n.-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566696C= | CA2427968719 | ARAF | c.615C= (p.Ala205=) c.624C= (p.Ala208=) c.630C= (p.Ala210=) c.-43C= (n.-43C=) | |
X | g.47566696C>G | CA10398051 | ARAF | c.615C>G (p.Ala205=) c.624C>G (p.Ala208=) c.630C>G (p.Ala210=) c.-43C>G (n.-43C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566696C>T | CA515989126 | ARAF | c.615C>T (p.Ala205=) c.624C>T (p.Ala208=) c.630C>T (p.Ala210=) c.-43C>T (n.-43C>T) | gnomAD v4 |
X | g.47566697C>A | CA412813343 | ARAF | c.616C>A (p.Pro206Thr) c.625C>A (p.Pro209Thr) c.631C>A (p.Pro211Thr) c.-42C>A (n.-42C>A) | gnomAD v4 |
X | g.47566697C= | CA2427968720 | ARAF | c.616C= (p.Pro206=) c.625C= (p.Pro209=) c.631C= (p.Pro211=) c.-42C= (n.-42C=) | |
X | g.47566697C>G | CA412813344 | ARAF | c.616C>G (p.Pro206Ala) c.625C>G (p.Pro209Ala) c.631C>G (p.Pro211Ala) c.-42C>G (n.-42C>G) | |
X | g.47566697C>T | CA412813345 | ARAF | c.616C>T (p.Pro206Ser) c.625C>T (p.Pro209Ser) c.631C>T (p.Pro211Ser) c.-42C>T (n.-42C>T) | dbSNP gnomAD v4 |
X | g.47566698C>A | CA412813346 | ARAF | c.617C>A (p.Pro206His) c.626C>A (p.Pro209His) c.632C>A (p.Pro211His) c.-41C>A (n.-41C>A) | |
X | g.47566698C>G | CA412813347 | ARAF | c.617C>G (p.Pro206Arg) c.626C>G (p.Pro209Arg) c.632C>G (p.Pro211Arg) c.-41C>G (n.-41C>G) | |
X | g.47566698C>T | CA412813348 | ARAF | c.617C>T (p.Pro206Leu) c.626C>T (p.Pro209Leu) c.632C>T (p.Pro211Leu) c.-41C>T (n.-41C>T) | gnomAD v4 |
X | g.47566699C>A | CA515989127 | ARAF | c.618C>A (p.Pro206=) c.627C>A (p.Pro209=) c.633C>A (p.Pro211=) c.-40C>A (n.-40C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566699C= | CA2427968721 | ARAF | c.618C= (p.Pro206=) c.627C= (p.Pro209=) c.633C= (p.Pro211=) c.-40C= (n.-40C=) | |
X | g.47566699C>G | CA515989128 | ARAF | c.618C>G (p.Pro206=) c.627C>G (p.Pro209=) c.633C>G (p.Pro211=) c.-40C>G (n.-40C>G) | |
X | g.47566699C>T | CA10398053 | ARAF | c.618C>T (p.Pro206=) c.627C>T (p.Pro209=) c.633C>T (p.Pro211=) c.-40C>T (n.-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566700C>A | CA412813349 | ARAF | c.619C>A (p.Leu207Ile) c.628C>A (p.Leu210Ile) c.634C>A (p.Leu212Ile) c.-39C>A (n.-39C>A) | gnomAD v4 |
X | g.47566700C>G | CA412813350 | ARAF | c.619C>G (p.Leu207Val) c.628C>G (p.Leu210Val) c.634C>G (p.Leu212Val) c.-39C>G (n.-39C>G) | gnomAD v4 |
X | g.47566700C>T | CA515989129 | ARAF | c.619C>T (p.Leu207=) c.628C>T (p.Leu210=) c.634C>T (p.Leu212=) c.-39C>T (n.-39C>T) | gnomAD v4 |
X | g.47566701T>A | CA412813351 | ARAF | c.620T>A (p.Leu207Gln) c.629T>A (p.Leu210Gln) c.635T>A (p.Leu212Gln) c.-38T>A (n.-38T>A) | |
X | g.47566701T>C | CA412813352 | ARAF | c.620T>C (p.Leu207Pro) c.629T>C (p.Leu210Pro) c.635T>C (p.Leu212Pro) c.-38T>C (n.-38T>C) | |
X | g.47566701T>G | CA412813353 | ARAF | c.620T>G (p.Leu207Arg) c.629T>G (p.Leu210Arg) c.635T>G (p.Leu212Arg) c.-38T>G (n.-38T>G) | |
X | g.47566702A>C | CA515989131 | ARAF | c.621A>C (p.Leu207=) c.630A>C (p.Leu210=) c.636A>C (p.Leu212=) c.-37A>C (n.-37A>C) | |
X | g.47566702A>G | CA515989132 | ARAF | c.621A>G (p.Leu207=) c.630A>G (p.Leu210=) c.636A>G (p.Leu212=) c.-37A>G (n.-37A>G) | gnomAD v4 |
X | g.47566702A>T | CA515989133 | ARAF | c.621A>T (p.Leu207=) c.630A>T (p.Leu210=) c.636A>T (p.Leu212=) c.-37A>T (n.-37A>T) | |
X | g.47566703C>A | CA412813356 | ARAF | c.622C>A (p.Gln208Lys) c.631C>A (p.Gln211Lys) c.637C>A (p.Gln213Lys) c.-36C>A (n.-36C>A) | gnomAD v4 |
X | g.47566703C>G | CA412813355 | ARAF | c.622C>G (p.Gln208Glu) c.631C>G (p.Gln211Glu) c.637C>G (p.Gln213Glu) c.-36C>G (n.-36C>G) | |
X | g.47566703C>T | CA412813354 | ARAF | c.622C>T (p.Gln208Ter) c.631C>T (p.Gln211Ter) c.637C>T (p.Gln213Ter) c.-36C>T (n.-36C>T) | |
X | g.47566704A= | CA2427968722 | ARAF | c.623A= (p.Gln208=) c.632A= (p.Gln211=) c.638A= (p.Gln213=) c.-35A= (n.-35A=) | |
X | g.47566704A>C | CA412813357 | ARAF | c.623A>C (p.Gln208Pro) c.632A>C (p.Gln211Pro) c.638A>C (p.Gln213Pro) c.-35A>C (n.-35A>C) | |
X | g.47566704A>G | CA412813358 | ARAF | c.623A>G (p.Gln208Arg) c.632A>G (p.Gln211Arg) c.638A>G (p.Gln213Arg) c.-35A>G (n.-35A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566704A>T | CA412813359 | ARAF | c.623A>T (p.Gln208Leu) c.632A>T (p.Gln211Leu) c.638A>T (p.Gln213Leu) c.-35A>T (n.-35A>T) | |
X | g.47566705G>A | CA515989137 | ARAF | c.624G>A (p.Gln208=) c.633G>A (p.Gln211=) c.639G>A (p.Gln213=) c.-34G>A (n.-34G>A) | dbSNP |
X | g.47566705G>C | CA10398054 | ARAF | c.624G>C (p.Gln208His) c.633G>C (p.Gln211His) c.639G>C (p.Gln213His) c.-34G>C (n.-34G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566705G= | CA2427968723 | ARAF | c.624G= (p.Gln208=) c.633G= (p.Gln211=) c.639G= (p.Gln213=) c.-34G= (n.-34G=) | |
X | g.47566705G>T | CA412813360 | ARAF | c.624G>T (p.Gln208His) c.633G>T (p.Gln211His) c.639G>T (p.Gln213His) c.-34G>T (n.-34G>T) | |
X | g.47566706C>A | CA412813363 | ARAF | c.625C>A (p.Arg209Ser) c.634C>A (p.Arg212Ser) c.640C>A (p.Arg214Ser) c.-33C>A (n.-33C>A) | |
X | g.47566706C>G | CA412813362 | ARAF | c.625C>G (p.Arg209Gly) c.634C>G (p.Arg212Gly) c.640C>G (p.Arg214Gly) c.-33C>G (n.-33C>G) | |
X | g.47566706C>T | CA412813361 | ARAF | c.625C>T (p.Arg209Cys) c.634C>T (p.Arg212Cys) c.640C>T (p.Arg214Cys) c.-33C>T (n.-33C>T) | dbSNP gnomAD v4 COSMIC |
X | g.47566707G>A | CA412813364 | ARAF | c.626G>A (p.Arg209His) c.635G>A (p.Arg212His) c.641G>A (p.Arg214His) c.-32G>A (n.-32G>A) | dbSNP gnomAD v4 |
X | g.47566707G>C | CA412813365 | ARAF | c.626G>C (p.Arg209Pro) c.635G>C (p.Arg212Pro) c.641G>C (p.Arg214Pro) c.-32G>C (n.-32G>C) | dbSNP |
X | g.47566707G>T | CA412813366 | ARAF | c.626G>T (p.Arg209Leu) c.635G>T (p.Arg212Leu) c.641G>T (p.Arg214Leu) c.-32G>T (n.-32G>T) | |
X | g.47566708C>A | CA515989143 | ARAF | c.627C>A (p.Arg209=) c.636C>A (p.Arg212=) c.642C>A (p.Arg214=) c.-31C>A (n.-31C>A) | |
X | g.47566708C>G | CA515989144 | ARAF | c.627C>G (p.Arg209=) c.636C>G (p.Arg212=) c.642C>G (p.Arg214=) c.-31C>G (n.-31C>G) | |
X | g.47566708C>T | CA515989145 | ARAF | c.627C>T (p.Arg209=) c.636C>T (p.Arg212=) c.642C>T (p.Arg214=) c.-31C>T (n.-31C>T) | |
X | g.47566709A= | CA2427968724 | ARAF | c.628A= (p.Ile210=) c.637A= (p.Ile213=) c.643A= (p.Ile215=) c.-30A= (n.-30A=) | |
X | g.47566709A>C | CA412813367 | ARAF | c.628A>C (p.Ile210Leu) c.637A>C (p.Ile213Leu) c.643A>C (p.Ile215Leu) c.-30A>C (n.-30A>C) | |
X | g.47566709A>G | CA412813368 | ARAF | c.628A>G (p.Ile210Val) c.637A>G (p.Ile213Val) c.643A>G (p.Ile215Val) c.-30A>G (n.-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566709A>T | CA412813369 | ARAF | c.628A>T (p.Ile210Phe) c.637A>T (p.Ile213Phe) c.643A>T (p.Ile215Phe) c.-30A>T (n.-30A>T) | |
X | g.47566710T>A | CA412813372 | ARAF | c.629T>A (p.Ile210Asn) c.638T>A (p.Ile213Asn) c.644T>A (p.Ile215Asn) c.-29T>A (n.-29T>A) | |
X | g.47566710T>C | CA412813370 | ARAF | c.629T>C (p.Ile210Thr) c.638T>C (p.Ile213Thr) c.644T>C (p.Ile215Thr) c.-29T>C (n.-29T>C) | |
X | g.47566710T>G | CA412813371 | ARAF | c.629T>G (p.Ile210Ser) c.638T>G (p.Ile213Ser) c.644T>G (p.Ile215Ser) c.-29T>G (n.-29T>G) | |
X | g.47566711C>A | CA515989149 | ARAF | c.630C>A (p.Ile210=) c.639C>A (p.Ile213=) c.645C>A (p.Ile215=) c.-28C>A (n.-28C>A) | |
X | g.47566711C>G | CA412813373 | ARAF | c.630C>G (p.Ile210Met) c.639C>G (p.Ile213Met) c.645C>G (p.Ile215Met) c.-28C>G (n.-28C>G) | |
X | g.47566711C>T | CA515989150 | ARAF | c.630C>T (p.Ile210=) c.639C>T (p.Ile213=) c.645C>T (p.Ile215=) c.-28C>T (n.-28C>T) | gnomAD v4 |
X | g.47566712C>A | CA412813374 | ARAF | c.631C>A (p.Arg211Ser) c.640C>A (p.Arg214Ser) c.646C>A (p.Arg216Ser) c.-27C>A (n.-27C>A) | |
X | g.47566712C= | CA2427968725 | ARAF | c.631C= (p.Arg211=) c.640C= (p.Arg214=) c.646C= (p.Arg216=) c.-27C= (n.-27C=) | |
X | g.47566712C>G | CA412813375 | ARAF | c.631C>G (p.Arg211Gly) c.640C>G (p.Arg214Gly) c.646C>G (p.Arg216Gly) c.-27C>G (n.-27C>G) | |
X | g.47566712C>T | CA412813376 | ARAF | c.631C>T (p.Arg211Cys) c.640C>T (p.Arg214Cys) c.646C>T (p.Arg216Cys) c.-27C>T (n.-27C>T) | dbSNP gnomAD v4 |
X | g.47566713G>A | CA329053170 | ARAF | c.632G>A (p.Arg211His) c.641G>A (p.Arg214His) c.647G>A (p.Arg216His) c.-26G>A (n.-26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566713G>C | CA412813377 | ARAF | c.632G>C (p.Arg211Pro) c.641G>C (p.Arg214Pro) c.647G>C (p.Arg216Pro) c.-26G>C (n.-26G>C) | dbSNP |
X | g.47566713G= | CA2427968726 | ARAF | c.632G= (p.Arg211=) c.641G= (p.Arg214=) c.647G= (p.Arg216=) c.-26G= (n.-26G=) | |
X | g.47566713G>T | CA412813378 | ARAF | c.632G>T (p.Arg211Leu) c.641G>T (p.Arg214Leu) c.647G>T (p.Arg216Leu) c.-26G>T (n.-26G>T) | gnomAD v4 |
X | g.47566713_47566728delinsGCTCCACGTCCACTCC | CA2427968727 | ARAF | c.632_647delinsGCTCCACGTCCACTCC (p.Arg211=) c.641_656delinsGCTCCACGTCCACTCC (p.Arg214=) c.647_662delinsGCTCCACGTCCACTCC (p.Arg216=) c.-26_-11delinsGCTCCACGTCCACTCC (n.-26_-11delinsGCTCCACGTCCACTCC) | |
X | g.47566714C>A | CA515989156 | ARAF | c.633C>A (p.Arg211=) c.642C>A (p.Arg214=) c.648C>A (p.Arg216=) c.-25C>A (n.-25C>A) | |
X | g.47566714C>G | CA515989158 | ARAF | c.633C>G (p.Arg211=) c.642C>G (p.Arg214=) c.648C>G (p.Arg216=) c.-25C>G (n.-25C>G) | |
X | g.47566714C>T | CA515989161 | ARAF | c.633C>T (p.Arg211=) c.642C>T (p.Arg214=) c.648C>T (p.Arg216=) c.-25C>T (n.-25C>T) | dbSNP gnomAD v4 |
X | g.47566715_47566729del | CA875843492 | ARAF | c.634_648del (p.Ser212_Pro216del) c.643_657del (p.Ser215_Pro219del) c.649_663del (p.Ser217_Pro221del) c.-24_-10del (n.-24_-10del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566715T>A | CA412813379 | ARAF | c.634T>A (p.Ser212Thr) c.643T>A (p.Ser215Thr) c.649T>A (p.Ser217Thr) c.-24T>A (n.-24T>A) | |
X | g.47566715T>C | CA412813380 | ARAF | c.634T>C (p.Ser212Pro) c.643T>C (p.Ser215Pro) c.649T>C (p.Ser217Pro) c.-24T>C (n.-24T>C) | gnomAD v4 |
X | g.47566715T>G | CA412813381 | ARAF | c.634T>G (p.Ser212Ala) c.643T>G (p.Ser215Ala) c.649T>G (p.Ser217Ala) c.-24T>G (n.-24T>G) | |
X | g.47566716C>A | CA412813382 | ARAF | c.635C>A (p.Ser212Tyr) c.644C>A (p.Ser215Tyr) c.650C>A (p.Ser217Tyr) c.-23C>A (n.-23C>A) | gnomAD v4 |
X | g.47566716C>G | CA412813383 | ARAF | c.635C>G (p.Ser212Cys) c.644C>G (p.Ser215Cys) c.650C>G (p.Ser217Cys) c.-23C>G (n.-23C>G) | |
X | g.47566716C>T | CA412813384 | ARAF | c.635C>T (p.Ser212Phe) c.644C>T (p.Ser215Phe) c.650C>T (p.Ser217Phe) c.-23C>T (n.-23C>T) | |
X | g.47566717C>A | CA515989163 | ARAF | c.636C>A (p.Ser212=) c.645C>A (p.Ser215=) c.651C>A (p.Ser217=) c.-22C>A (n.-22C>A) | |
X | g.47566717C>G | CA515989165 | ARAF | c.636C>G (p.Ser212=) c.645C>G (p.Ser215=) c.651C>G (p.Ser217=) c.-22C>G (n.-22C>G) | |
X | g.47566717C>T | CA515989166 | ARAF | c.636C>T (p.Ser212=) c.645C>T (p.Ser215=) c.651C>T (p.Ser217=) c.-22C>T (n.-22C>T) | |
X | g.47566718A>C | CA412813385 | ARAF | c.637A>C (p.Thr213Pro) c.646A>C (p.Thr216Pro) c.652A>C (p.Thr218Pro) c.-21A>C (n.-21A>C) | dbSNP gnomAD v4 |
X | g.47566718A>G | CA412813387 | ARAF | c.637A>G (p.Thr213Ala) c.646A>G (p.Thr216Ala) c.652A>G (p.Thr218Ala) c.-21A>G (n.-21A>G) | |
X | g.47566718A>T | CA412813386 | ARAF | c.637A>T (p.Thr213Ser) c.646A>T (p.Thr216Ser) c.652A>T (p.Thr218Ser) c.-21A>T (n.-21A>T) | |
X | g.47566719C>A | CA412813388 | ARAF | c.638C>A (p.Thr213Lys) c.647C>A (p.Thr216Lys) c.653C>A (p.Thr218Lys) c.-20C>A (n.-20C>A) | |
X | g.47566719C= | CA2427968728 | ARAF | c.638C= (p.Thr213=) c.647C= (p.Thr216=) c.653C= (p.Thr218=) c.-20C= (n.-20C=) | |
X | g.47566719C>G | CA412813390 | ARAF | c.638C>G (p.Thr213Arg) c.647C>G (p.Thr216Arg) c.653C>G (p.Thr218Arg) c.-20C>G (n.-20C>G) | |
X | g.47566719C>T | CA412813389 | ARAF | c.638C>T (p.Thr213Met) c.647C>T (p.Thr216Met) c.653C>T (p.Thr218Met) c.-20C>T (n.-20C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.47566720G>A | CA10398055 | ARAF | c.639G>A (p.Thr213=) c.648G>A (p.Thr216=) c.654G>A (p.Thr218=) c.-19G>A (n.-19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566720G>C | CA515989171 | ARAF | c.639G>C (p.Thr213=) c.648G>C (p.Thr216=) c.654G>C (p.Thr218=) c.-19G>C (n.-19G>C) | dbSNP |
X | g.47566720G= | CA2427968729 | ARAF | c.639G= (p.Thr213=) c.648G= (p.Thr216=) c.654G= (p.Thr218=) c.-19G= (n.-19G=) | |
X | g.47566720G>T | CA515989173 | ARAF | c.639G>T (p.Thr213=) c.648G>T (p.Thr216=) c.654G>T (p.Thr218=) c.-19G>T (n.-19G>T) | |
X | g.47566721T>A | CA412813391 | ARAF | c.640T>A (p.Ser214Thr) c.649T>A (p.Ser217Thr) c.655T>A (p.Ser219Thr) c.-18T>A (n.-18T>A) | dbSNP COSMIC |
X | g.47566721T>C | CA412813392 | ARAF | c.640T>C (p.Ser214Pro) c.649T>C (p.Ser217Pro) c.655T>C (p.Ser219Pro) c.-18T>C (n.-18T>C) | |
X | g.47566721T>G | CA16602806 | ARAF | c.640T>G (p.Ser214Ala) c.649T>G (p.Ser217Ala) c.655T>G (p.Ser219Ala) c.-18T>G (n.-18T>G) | ClinVar dbSNP COSMIC |
X | g.47566721T= | CA2427968730 | ARAF | c.640T= (p.Ser214=) c.649T= (p.Ser217=) c.655T= (p.Ser219=) c.-18T= (n.-18T=) | |
X | g.47566722C>A | CA412813393 | ARAF | c.641C>A (p.Ser214Tyr) c.650C>A (p.Ser217Tyr) c.656C>A (p.Ser219Tyr) c.-17C>A (n.-17C>A) | dbSNP COSMIC |
X | g.47566722C= | CA2427968731 | ARAF | c.641C= (p.Ser214=) c.650C= (p.Ser217=) c.656C= (p.Ser219=) c.-17C= (n.-17C=) | |
X | g.47566722C>G | CA16602595 | ARAF | c.641C>G (p.Ser214Cys) c.650C>G (p.Ser217Cys) c.656C>G (p.Ser219Cys) c.-17C>G (n.-17C>G) | ClinVar dbSNP COSMIC |
X | g.47566722C>T | CA16602805 | ARAF | c.641C>T (p.Ser214Phe) c.650C>T (p.Ser217Phe) c.656C>T (p.Ser219Phe) c.-17C>T (n.-17C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.47566722_47566723delinsGT | CA645603172 | ARAF | c.641_642delinsGT (p.Ser214Cys) c.650_651delinsGT (p.Ser217Cys) c.656_657delinsGT (p.Ser219Cys) c.-17_-16delinsGT (n.-17_-16delinsGT) | COSMIC |
X | g.47566723C>A | CA10398056 | ARAF | c.642C>A (p.Ser214=) c.651C>A (p.Ser217=) c.657C>A (p.Ser219=) c.-16C>A (n.-16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566723C= | CA2427968732 | ARAF | c.642C= (p.Ser214=) c.651C= (p.Ser217=) c.657C= (p.Ser219=) c.-16C= (n.-16C=) | |
X | g.47566723C>G | CA515989177 | ARAF | c.642C>G (p.Ser214=) c.651C>G (p.Ser217=) c.657C>G (p.Ser219=) c.-16C>G (n.-16C>G) | gnomAD v4 |
X | g.47566723C>T | CA515989176 | ARAF | c.642C>T (p.Ser214=) c.651C>T (p.Ser217=) c.657C>T (p.Ser219=) c.-16C>T (n.-16C>T) | dbSNP |
X | g.47566724A>C | CA412813394 | ARAF | c.643A>C (p.Thr215Pro) c.652A>C (p.Thr218Pro) c.658A>C (p.Thr220Pro) c.-15A>C (n.-15A>C) | |
X | g.47566724A>G | CA412813395 | ARAF | c.643A>G (p.Thr215Ala) c.652A>G (p.Thr218Ala) c.658A>G (p.Thr220Ala) c.-15A>G (n.-15A>G) | |
X | g.47566724A>T | CA412813396 | ARAF | c.643A>T (p.Thr215Ser) c.652A>T (p.Thr218Ser) c.658A>T (p.Thr220Ser) c.-15A>T (n.-15A>T) |