UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158612819G>A | CA16617007 | SPTA1 | c.7132C>T (p.Gln2378Ter) n.573C>T n.564C>T c.7114C>T (p.Gln2372Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.158612819G>C | CA343011061 | SPTA1 | c.7132C>G (p.Gln2378Glu) n.573C>G n.564C>G c.7114C>G (p.Gln2372Glu) | |
| 1 | g.158612819G= | CA1201536908 | SPTA1 | c.7132C= (p.Gln2378=) n.573C= n.564C= c.7114C= (p.Gln2372=) | |
| 1 | g.158612819G>T | CA343011063 | SPTA1 | c.7132C>A (p.Gln2378Lys) n.573C>A n.564C>A c.7114C>A (p.Gln2372Lys) | |
| 1 | g.158612820C>A | CA343011064 | SPTA1 | c.7131G>T (p.Lys2377Asn) n.572G>T n.563G>T c.7113G>T (p.Lys2371Asn) | |
| 1 | g.158612820C>G | CA343011066 | SPTA1 | c.7131G>C (p.Lys2377Asn) n.572G>C n.563G>C c.7113G>C (p.Lys2371Asn) | |
| 1 | g.158612820C>T | CA421212230 | SPTA1 | c.7131G>A (p.Lys2377=) n.572G>A n.563G>A c.7113G>A (p.Lys2371=) | |
| 1 | g.158612821T>A | CA343011068 | SPTA1 | c.7130A>T (p.Lys2377Met) n.571A>T n.562A>T c.7112A>T (p.Lys2371Met) | |
| 1 | g.158612821T>C | CA343011069 | SPTA1 | c.7130A>G (p.Lys2377Arg) n.571A>G n.562A>G c.7112A>G (p.Lys2371Arg) | |
| 1 | g.158612821T>G | CA343011067 | SPTA1 | c.7130A>C (p.Lys2377Thr) n.571A>C n.562A>C c.7112A>C (p.Lys2371Thr) | |
| 1 | g.158612822T>A | CA343011075 | SPTA1 | c.7129A>T (p.Lys2377Ter) n.570A>T n.561A>T c.7111A>T (p.Lys2371Ter) | |
| 1 | g.158612822T>C | CA343011071 | SPTA1 | c.7129A>G (p.Lys2377Glu) n.570A>G n.561A>G c.7111A>G (p.Lys2371Glu) | |
| 1 | g.158612822T>G | CA343011073 | SPTA1 | c.7129A>C (p.Lys2377Gln) n.570A>C n.561A>C c.7111A>C (p.Lys2371Gln) | |
| 1 | g.158612823C>A | CA343011076 | SPTA1 | c.7128G>T (p.Met2376Ile) n.569G>T n.560G>T c.7110G>T (p.Met2370Ile) | |
| 1 | g.158612823C>G | CA343011077 | SPTA1 | c.7128G>C (p.Met2376Ile) n.569G>C n.560G>C c.7110G>C (p.Met2370Ile) | |
| 1 | g.158612823C>T | CA343011079 | SPTA1 | c.7128G>A (p.Met2376Ile) n.569G>A n.560G>A c.7110G>A (p.Met2370Ile) | COSMIC |
| 1 | g.158612824A>C | CA343011081 | SPTA1 | c.7127T>G (p.Met2376Arg) n.568T>G n.559T>G c.7109T>G (p.Met2370Arg) | ClinVar |
| 1 | g.158612824A>G | CA343011083 | SPTA1 | c.7127T>C (p.Met2376Thr) n.568T>C n.559T>C c.7109T>C (p.Met2370Thr) | |
| 1 | g.158612824A>T | CA343011084 | SPTA1 | c.7127T>A (p.Met2376Lys) n.568T>A n.559T>A c.7109T>A (p.Met2370Lys) | |
| 1 | g.158612825T>A | CA343011086 | SPTA1 | c.7126A>T (p.Met2376Leu) n.567A>T n.558A>T c.7108A>T (p.Met2370Leu) | |
| 1 | g.158612825T>C | CA343011088 | SPTA1 | c.7126A>G (p.Met2376Val) n.567A>G n.558A>G c.7108A>G (p.Met2370Val) | gnomAD v4 |
| 1 | g.158612825T>G | CA343011089 | SPTA1 | c.7126A>C (p.Met2376Leu) n.567A>C n.558A>C c.7108A>C (p.Met2370Leu) | |
| 1 | g.158612826G>A | CA421212259 | SPTA1 | c.7125C>T (p.Asp2375=) n.566C>T n.557C>T c.7107C>T (p.Asp2369=) | |
| 1 | g.158612826G>C | CA343011091 | SPTA1 | c.7125C>G (p.Asp2375Glu) n.566C>G n.557C>G c.7107C>G (p.Asp2369Glu) | |
| 1 | g.158612826G>T | CA343011093 | SPTA1 | c.7125C>A (p.Asp2375Glu) n.566C>A n.557C>A c.7107C>A (p.Asp2369Glu) | |
| 1 | g.158612826_158612829delinsGTCT | CA1201536909 | SPTA1 | c.7122_7125delinsAGAC (p.Glu2374=) n.563_566delinsAGAC n.554_557delinsAGAC c.7104_7107delinsAGAC (p.Glu2368=) | |
| 1 | g.158612827T>A | CA1181723 | SPTA1 | c.7124A>T (p.Asp2375Val) n.565A>T n.556A>T c.7106A>T (p.Asp2369Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612827T>C | CA343011096 | SPTA1 | c.7124A>G (p.Asp2375Gly) n.565A>G n.556A>G c.7106A>G (p.Asp2369Gly) | gnomAD v4 |
| 1 | g.158612827T>G | CA343011095 | SPTA1 | c.7124A>C (p.Asp2375Ala) n.565A>C n.556A>C c.7106A>C (p.Asp2369Ala) | |
| 1 | g.158612827T= | CA1148885079 | SPTA1 | c.7124A= (p.Asp2375=) n.565A= n.556A= c.7106A= (p.Asp2369=) | |
| 1 | g.158612831_158612833del | CA1008229116 | SPTA1 | c.7122_7124del (p.Glu2374del) n.563_565del n.554_556del c.7104_7106del (p.Glu2368del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612828C>A | CA343011097 | SPTA1 | c.7123G>T (p.Asp2375Tyr) n.564G>T n.555G>T c.7105G>T (p.Asp2369Tyr) | |
| 1 | g.158612828C>G | CA343011098 | SPTA1 | c.7123G>C (p.Asp2375His) n.564G>C n.555G>C c.7105G>C (p.Asp2369His) | |
| 1 | g.158612828C>T | CA343011100 | SPTA1 | c.7123G>A (p.Asp2375Asn) n.564G>A n.555G>A c.7105G>A (p.Asp2369Asn) | |
| 1 | g.158612829T>A | CA343011102 | SPTA1 | c.7122A>T (p.Glu2374Asp) n.563A>T n.554A>T c.7104A>T (p.Glu2368Asp) | |
| 1 | g.158612829T>C | CA421212280 | SPTA1 | c.7122A>G (p.Glu2374=) n.563A>G n.554A>G c.7104A>G (p.Glu2368=) | COSMIC |
| 1 | g.158612829T>G | CA343011103 | SPTA1 | c.7122A>C (p.Glu2374Asp) n.563A>C n.554A>C c.7104A>C (p.Glu2368Asp) | dbSNP |
| 1 | g.158612829T= | CA1201536910 | SPTA1 | c.7122A= (p.Glu2374=) n.563A= n.554A= c.7104A= (p.Glu2368=) | |
| 1 | g.158612830T>A | CA343011104 | SPTA1 | c.7121A>T (p.Glu2374Val) n.562A>T n.553A>T c.7103A>T (p.Glu2368Val) | |
| 1 | g.158612830T>C | CA343011105 | SPTA1 | c.7121A>G (p.Glu2374Gly) n.562A>G n.553A>G c.7103A>G (p.Glu2368Gly) | COSMIC |
| 1 | g.158612830T>G | CA343011106 | SPTA1 | c.7121A>C (p.Glu2374Ala) n.562A>C n.553A>C c.7103A>C (p.Glu2368Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612830T= | CA1201536911 | SPTA1 | c.7121A= (p.Glu2374=) n.562A= n.553A= c.7103A= (p.Glu2368=) | |
| 1 | g.158612831C>A | CA343011107 | SPTA1 | c.7120G>T (p.Glu2374Ter) n.561G>T n.552G>T c.7102G>T (p.Glu2368Ter) | COSMIC |
| 1 | g.158612831C>G | CA343011108 | SPTA1 | c.7120G>C (p.Glu2374Gln) n.561G>C n.552G>C c.7102G>C (p.Glu2368Gln) | |
| 1 | g.158612831C>T | CA343011109 | SPTA1 | c.7120G>A (p.Glu2374Lys) n.561G>A n.552G>A c.7102G>A (p.Glu2368Lys) | |
| 1 | g.158612832T>A | CA343011111 | SPTA1 | c.7119A>T (p.Lys2373Asn) n.560A>T n.551A>T c.7101A>T (p.Lys2367Asn) | |
| 1 | g.158612832T>C | CA1181724 | SPTA1 | c.7119A>G (p.Lys2373=) n.560A>G n.551A>G c.7101A>G (p.Lys2367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612832T>G | CA343011110 | SPTA1 | c.7119A>C (p.Lys2373Asn) n.560A>C n.551A>C c.7101A>C (p.Lys2367Asn) | |
| 1 | g.158612832T= | CA1201536912 | SPTA1 | c.7119A= (p.Lys2373=) n.560A= n.551A= c.7101A= (p.Lys2367=) | |
| 1 | g.158612833T>A | CA343011113 | SPTA1 | c.7118A>T (p.Lys2373Ile) n.559A>T n.550A>T c.7100A>T (p.Lys2367Ile) | |
| 1 | g.158612833T>C | CA343011114 | SPTA1 | c.7118A>G (p.Lys2373Arg) n.559A>G n.550A>G c.7100A>G (p.Lys2367Arg) | |
| 1 | g.158612833T>G | CA343011116 | SPTA1 | c.7118A>C (p.Lys2373Thr) n.559A>C n.550A>C c.7100A>C (p.Lys2367Thr) | |
| 1 | g.158612834T>A | CA343011118 | SPTA1 | c.7117A>T (p.Lys2373Ter) n.558A>T n.549A>T c.7099A>T (p.Lys2367Ter) | |
| 1 | g.158612834T>C | CA343011119 | SPTA1 | c.7117A>G (p.Lys2373Glu) n.558A>G n.549A>G c.7099A>G (p.Lys2367Glu) | |
| 1 | g.158612834T>G | CA343011121 | SPTA1 | c.7117A>C (p.Lys2373Gln) n.558A>C n.549A>C c.7099A>C (p.Lys2367Gln) | |
| 1 | g.158612835G>A | CA421212314 | SPTA1 | c.7116C>T (p.Thr2372=) n.557C>T n.548C>T c.7098C>T (p.Thr2366=) | |
| 1 | g.158612835G>C | CA1181725 | SPTA1 | c.7116C>G (p.Thr2372=) n.557C>G n.548C>G c.7098C>G (p.Thr2366=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612835G= | CA1143800087 | SPTA1 | c.7116C= (p.Thr2372=) n.557C= n.548C= c.7098C= (p.Thr2366=) | |
| 1 | g.158612835G>T | CA421212312 | SPTA1 | c.7116C>A (p.Thr2372=) n.557C>A n.548C>A c.7098C>A (p.Thr2366=) | |
| 1 | g.158612836G>A | CA343011123 | SPTA1 | c.7115C>T (p.Thr2372Ile) n.556C>T n.547C>T c.7097C>T (p.Thr2366Ile) | |
| 1 | g.158612836G>C | CA343011127 | SPTA1 | c.7115C>G (p.Thr2372Ser) n.556C>G n.547C>G c.7097C>G (p.Thr2366Ser) | |
| 1 | g.158612836G>T | CA343011125 | SPTA1 | c.7115C>A (p.Thr2372Asn) n.556C>A n.547C>A c.7097C>A (p.Thr2366Asn) | COSMIC |
| 1 | g.158612837T>A | CA343011128 | SPTA1 | c.7114A>T (p.Thr2372Ser) n.555A>T n.546A>T c.7096A>T (p.Thr2366Ser) | |
| 1 | g.158612837T>C | CA343011130 | SPTA1 | c.7114A>G (p.Thr2372Ala) n.555A>G n.546A>G c.7096A>G (p.Thr2366Ala) | |
| 1 | g.158612837T>G | CA343011131 | SPTA1 | c.7114A>C (p.Thr2372Pro) n.555A>C n.546A>C c.7096A>C (p.Thr2366Pro) | |
| 1 | g.158612838A>C | CA343011133 | SPTA1 | c.7113T>G (p.Ile2371Met) n.554T>G n.545T>G c.7095T>G (p.Ile2365Met) | |
| 1 | g.158612838A>G | CA421212338 | SPTA1 | c.7113T>C (p.Ile2371=) n.554T>C n.545T>C c.7095T>C (p.Ile2365=) | |
| 1 | g.158612838A>T | CA421212340 | SPTA1 | c.7113T>A (p.Ile2371=) n.554T>A n.545T>A c.7095T>A (p.Ile2365=) | gnomAD v4 |
| 1 | g.158612839dup | CA2648555638 | SPTA1 | c.7113dup (p.Thr2372TyrfsTer?) n.554dup n.545dup c.7095dup (p.Thr2366TyrfsTer?) | gnomAD v4 |
| 1 | g.158612839A>C | CA343011135 | SPTA1 | c.7112T>G (p.Ile2371Ser) n.553T>G n.544T>G c.7094T>G (p.Ile2365Ser) | |
| 1 | g.158612839A>G | CA343011138 | SPTA1 | c.7112T>C (p.Ile2371Thr) n.553T>C n.544T>C c.7094T>C (p.Ile2365Thr) | |
| 1 | g.158612839A>T | CA343011137 | SPTA1 | c.7112T>A (p.Ile2371Asn) n.553T>A n.544T>A c.7094T>A (p.Ile2365Asn) | |
| 1 | g.158612840T>A | CA343011140 | SPTA1 | c.7111A>T (p.Ile2371Phe) n.552A>T n.543A>T c.7093A>T (p.Ile2365Phe) | |
| 1 | g.158612840T>C | CA343011142 | SPTA1 | c.7111A>G (p.Ile2371Val) n.552A>G n.543A>G c.7093A>G (p.Ile2365Val) | |
| 1 | g.158612840T>G | CA343011143 | SPTA1 | c.7111A>C (p.Ile2371Leu) n.552A>C n.543A>C c.7093A>C (p.Ile2365Leu) | |
| 1 | g.158612841A>C | CA343011145 | SPTA1 | c.7110T>G (p.Tyr2370Ter) n.551T>G n.542T>G c.7092T>G (p.Tyr2364Ter) | |
| 1 | g.158612841A>G | CA421212351 | SPTA1 | c.7110T>C (p.Tyr2370=) n.551T>C n.542T>C c.7092T>C (p.Tyr2364=) | dbSNP |
| 1 | g.158612841A>T | CA343011146 | SPTA1 | c.7110T>A (p.Tyr2370Ter) n.551T>A n.542T>A c.7092T>A (p.Tyr2364Ter) | |
| 1 | g.158612842T>A | CA343011148 | SPTA1 | c.7109A>T (p.Tyr2370Phe) n.550A>T n.541A>T c.7091A>T (p.Tyr2364Phe) | |
| 1 | g.158612842T>C | CA1181726 | SPTA1 | c.7109A>G (p.Tyr2370Cys) n.550A>G n.541A>G c.7091A>G (p.Tyr2364Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612842T>G | CA343011149 | SPTA1 | c.7109A>C (p.Tyr2370Ser) n.550A>C n.541A>C c.7091A>C (p.Tyr2364Ser) | |
| 1 | g.158612842T= | CA1148034520 | SPTA1 | c.7109A= (p.Tyr2370=) n.550A= n.541A= c.7091A= (p.Tyr2364=) | |
| 1 | g.158612843A>C | CA343011151 | SPTA1 | c.7108T>G (p.Tyr2370Asp) n.549T>G n.540T>G c.7090T>G (p.Tyr2364Asp) | |
| 1 | g.158612843A>G | CA343011152 | SPTA1 | c.7108T>C (p.Tyr2370His) n.549T>C n.540T>C c.7090T>C (p.Tyr2364His) | gnomAD v4 |
| 1 | g.158612843A>T | CA343011154 | SPTA1 | c.7108T>A (p.Tyr2370Asn) n.549T>A n.540T>A c.7090T>A (p.Tyr2364Asn) | |
| 1 | g.158612844T>A | CA421212363 | SPTA1 | c.7107A>T (p.Ser2369=) n.548A>T n.539A>T c.7089A>T (p.Ser2363=) | |
| 1 | g.158612844T>C | CA1181727 | SPTA1 | c.7107A>G (p.Ser2369=) n.548A>G n.539A>G c.7089A>G (p.Ser2363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612844T>G | CA421212367 | SPTA1 | c.7107A>C (p.Ser2369=) n.548A>C n.539A>C c.7089A>C (p.Ser2363=) | |
| 1 | g.158612844T= | CA1201536913 | SPTA1 | c.7107A= (p.Ser2369=) n.548A= n.539A= c.7089A= (p.Ser2363=) | |
| 1 | g.158612845G>A | CA343011160 | SPTA1 | c.7106C>T (p.Ser2369Leu) n.547C>T n.538C>T c.7088C>T (p.Ser2363Leu) | dbSNP gnomAD v4 |
| 1 | g.158612845G>C | CA343011159 | SPTA1 | c.7106C>G (p.Ser2369Ter) n.547C>G n.538C>G c.7088C>G (p.Ser2363Ter) | |
| 1 | g.158612845G= | CA1201536914 | SPTA1 | c.7106C= (p.Ser2369=) n.547C= n.538C= c.7088C= (p.Ser2363=) | |
| 1 | g.158612845G>T | CA343011157 | SPTA1 | c.7106C>A (p.Ser2369Ter) n.547C>A n.538C>A c.7088C>A (p.Ser2363Ter) | |
| 1 | g.158612846A>C | CA343011161 | SPTA1 | c.7105T>G (p.Ser2369Ala) n.546T>G n.537T>G c.7087T>G (p.Ser2363Ala) | gnomAD v4 |
| 1 | g.158612846A>G | CA343011163 | SPTA1 | c.7105T>C (p.Ser2369Pro) n.546T>C n.537T>C c.7087T>C (p.Ser2363Pro) | |
| 1 | g.158612846A>T | CA343011165 | SPTA1 | c.7105T>A (p.Ser2369Thr) n.546T>A n.537T>A c.7087T>A (p.Ser2363Thr) | gnomAD v4 |
| 1 | g.158612847C>A | CA1181728 | SPTA1 | c.7104G>T (p.Lys2368Asn) n.545G>T n.536G>T c.7086G>T (p.Lys2362Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612847C= | CA1141300179 | SPTA1 | c.7104G= (p.Lys2368=) n.545G= n.536G= c.7086G= (p.Lys2362=) | |
| 1 | g.158612847C>G | CA343011167 | SPTA1 | c.7104G>C (p.Lys2368Asn) n.545G>C n.536G>C c.7086G>C (p.Lys2362Asn) | |
| 1 | g.158612847C>T | CA421212380 | SPTA1 | c.7104G>A (p.Lys2368=) n.545G>A n.536G>A c.7086G>A (p.Lys2362=) | |
| 1 | g.158612848T>A | CA343011168 | SPTA1 | c.7103A>T (p.Lys2368Met) n.544A>T n.535A>T c.7085A>T (p.Lys2362Met) | |
| 1 | g.158612848T>C | CA343011170 | SPTA1 | c.7103A>G (p.Lys2368Arg) n.544A>G n.535A>G c.7085A>G (p.Lys2362Arg) | |
| 1 | g.158612848T>G | CA343011172 | SPTA1 | c.7103A>C (p.Lys2368Thr) n.544A>C n.535A>C c.7085A>C (p.Lys2362Thr) | |
| 1 | g.158612849T>A | CA343011174 | SPTA1 | c.7102A>T (p.Lys2368Ter) n.543A>T n.534A>T c.7084A>T (p.Lys2362Ter) | |
| 1 | g.158612849T>C | CA343011177 | SPTA1 | c.7102A>G (p.Lys2368Glu) n.543A>G n.534A>G c.7084A>G (p.Lys2362Glu) | gnomAD v4 |
| 1 | g.158612849T>G | CA343011175 | SPTA1 | c.7102A>C (p.Lys2368Gln) n.543A>C n.534A>C c.7084A>C (p.Lys2362Gln) | gnomAD v4 |
| 1 | g.158612850G>A | CA1181729 | SPTA1 | c.7101C>T (p.Gly2367=) n.542C>T n.533C>T c.7083C>T (p.Gly2361=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612850G>C | CA421212397 | SPTA1 | c.7101C>G (p.Gly2367=) n.542C>G n.533C>G c.7083C>G (p.Gly2361=) | |
| 1 | g.158612850G= | CA1146923054 | SPTA1 | c.7101C= (p.Gly2367=) n.542C= n.533C= c.7083C= (p.Gly2361=) | |
| 1 | g.158612850G>T | CA421212400 | SPTA1 | c.7101C>A (p.Gly2367=) n.542C>A n.533C>A c.7083C>A (p.Gly2361=) | |
| 1 | g.158612851C>A | CA343011179 | SPTA1 | c.7100G>T (p.Gly2367Val) n.541G>T n.532G>T c.7082G>T (p.Gly2361Val) | |
| 1 | g.158612851C= | CA1201536915 | SPTA1 | c.7100G= (p.Gly2367=) n.541G= n.532G= c.7082G= (p.Gly2361=) | |
| 1 | g.158612851C>G | CA343011180 | SPTA1 | c.7100G>C (p.Gly2367Ala) n.541G>C n.532G>C c.7082G>C (p.Gly2361Ala) | |
| 1 | g.158612851C>T | CA343011182 | SPTA1 | c.7100G>A (p.Gly2367Asp) n.541G>A n.532G>A c.7082G>A (p.Gly2361Asp) | dbSNP gnomAD v2 |
| 1 | g.158612852C>A | CA343011187 | SPTA1 | c.7099G>T (p.Gly2367Cys) n.540G>T n.531G>T c.7081G>T (p.Gly2361Cys) | COSMIC |
| 1 | g.158612852C>G | CA343011184 | SPTA1 | c.7099G>C (p.Gly2367Arg) n.540G>C n.531G>C c.7081G>C (p.Gly2361Arg) | |
| 1 | g.158612852C>T | CA343011186 | SPTA1 | c.7099G>A (p.Gly2367Ser) n.540G>A n.531G>A c.7081G>A (p.Gly2361Ser) | |
| 1 | g.158612853C>A | CA343011189 | SPTA1 | c.7098G>T (p.Glu2366Asp) n.539G>T n.530G>T c.7080G>T (p.Glu2360Asp) | dbSNP |
| 1 | g.158612853C= | CA1201536916 | SPTA1 | c.7098G= (p.Glu2366=) n.539G= n.530G= c.7080G= (p.Glu2360=) | |
| 1 | g.158612853C>G | CA343011190 | SPTA1 | c.7098G>C (p.Glu2366Asp) n.539G>C n.530G>C c.7080G>C (p.Glu2360Asp) | dbSNP |
| 1 | g.158612853C>T | CA1181730 | SPTA1 | c.7098G>A (p.Glu2366=) n.539G>A n.530G>A c.7080G>A (p.Glu2360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612854T>A | CA343011193 | SPTA1 | c.7097A>T (p.Glu2366Val) n.538A>T n.529A>T c.7079A>T (p.Glu2360Val) | |
| 1 | g.158612854T>C | CA343011194 | SPTA1 | c.7097A>G (p.Glu2366Gly) n.538A>G n.529A>G c.7079A>G (p.Glu2360Gly) | dbSNP |
| 1 | g.158612854T>G | CA343011195 | SPTA1 | c.7097A>C (p.Glu2366Ala) n.538A>C n.529A>C c.7079A>C (p.Glu2360Ala) | |
| 1 | g.158612854T= | CA1201536917 | SPTA1 | c.7097A= (p.Glu2366=) n.538A= n.529A= c.7079A= (p.Glu2360=) | |
| 1 | g.158612855C>A | CA343011197 | SPTA1 | c.7096G>T (p.Glu2366Ter) n.537G>T n.528G>T c.7078G>T (p.Glu2360Ter) | |
| 1 | g.158612855C>G | CA343011199 | SPTA1 | c.7096G>C (p.Glu2366Gln) n.537G>C n.528G>C c.7078G>C (p.Glu2360Gln) | |
| 1 | g.158612855C>T | CA343011200 | SPTA1 | c.7096G>A (p.Glu2366Lys) n.537G>A n.528G>A c.7078G>A (p.Glu2360Lys) | |
| 1 | g.158612856T>A | CA421212425 | SPTA1 | c.7095A>T (p.Ala2365=) n.536A>T n.527A>T c.7077A>T (p.Ala2359=) | dbSNP gnomAD v4 |
| 1 | g.158612856T>C | CA1181731 | SPTA1 | c.7095A>G (p.Ala2365=) n.536A>G n.527A>G c.7077A>G (p.Ala2359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612856T>G | CA421212429 | SPTA1 | c.7095A>C (p.Ala2365=) n.536A>C n.527A>C c.7077A>C (p.Ala2359=) | |
| 1 | g.158612856T= | CA1139923838 | SPTA1 | c.7095A= (p.Ala2365=) n.536A= n.527A= c.7077A= (p.Ala2359=) | |
| 1 | g.158612856_158612857delinsCA | CA2697554613 | SPTA1 | c.7094_7095delinsTG (p.Ala2365Val) n.535_536delinsTG n.526_527delinsTG c.7076_7077delinsTG (p.Ala2359Val) | ClinVar |
| 1 | g.158612856_158612857delinsCT | CA2573051398 | SPTA1 | c.7094_7095delinsAG (p.Ala2365Glu) n.535_536delinsAG n.526_527delinsAG c.7076_7077delinsAG (p.Ala2359Glu) | ClinVar dbSNP |
| 1 | g.158612857G>A | CA1181732 | SPTA1 | c.7094C>T (p.Ala2365Val) n.535C>T n.526C>T c.7076C>T (p.Ala2359Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612857G>C | CA343011204 | SPTA1 | c.7094C>G (p.Ala2365Gly) n.535C>G n.526C>G c.7076C>G (p.Ala2359Gly) | |
| 1 | g.158612857G= | CA1201536918 | SPTA1 | c.7094C= (p.Ala2365=) n.535C= n.526C= c.7076C= (p.Ala2359=) | |
| 1 | g.158612857G>T | CA343011205 | SPTA1 | c.7094C>A (p.Ala2365Glu) n.535C>A n.526C>A c.7076C>A (p.Ala2359Glu) | COSMIC |
| 1 | g.158612858C>A | CA343011207 | SPTA1 | c.7093G>T (p.Ala2365Ser) n.534G>T n.525G>T c.7075G>T (p.Ala2359Ser) | |
| 1 | g.158612858C= | CA1201536919 | SPTA1 | c.7093G= (p.Ala2365=) n.534G= n.525G= c.7075G= (p.Ala2359=) | |
| 1 | g.158612858C>G | CA343011211 | SPTA1 | c.7093G>C (p.Ala2365Pro) n.534G>C n.525G>C c.7075G>C (p.Ala2359Pro) | |
| 1 | g.158612858C>T | CA343011209 | SPTA1 | c.7093G>A (p.Ala2365Thr) n.534G>A n.525G>A c.7075G>A (p.Ala2359Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.158612859C>A | CA421212440 | SPTA1 | c.7092G>T (p.Leu2364=) n.533G>T n.524G>T c.7074G>T (p.Leu2358=) | gnomAD v4 |
| 1 | g.158612859C= | CA1201536920 | SPTA1 | c.7092G= (p.Leu2364=) n.533G= n.524G= c.7074G= (p.Leu2358=) | |
| 1 | g.158612859C>G | CA31250577 | SPTA1 | c.7092G>C (p.Leu2364=) n.533G>C n.524G>C c.7074G>C (p.Leu2358=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612859C>T | CA1181733 | SPTA1 | c.7092G>A (p.Leu2364=) n.533G>A n.524G>A c.7074G>A (p.Leu2358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612860A>C | CA343011214 | SPTA1 | c.7091T>G (p.Leu2364Arg) n.532T>G n.523T>G c.7073T>G (p.Leu2358Arg) | |
| 1 | g.158612860A>G | CA343011215 | SPTA1 | c.7091T>C (p.Leu2364Pro) n.532T>C n.523T>C c.7073T>C (p.Leu2358Pro) | ClinVar gnomAD v4 |
| 1 | g.158612860A>T | CA343011216 | SPTA1 | c.7091T>A (p.Leu2364Gln) n.532T>A n.523T>A c.7073T>A (p.Leu2358Gln) | |
| 1 | g.158612861G>A | CA31250583 | SPTA1 | c.7090C>T (p.Leu2364=) n.531C>T n.522C>T c.7072C>T (p.Leu2358=) | dbSNP |
| 1 | g.158612861G>C | CA343011220 | SPTA1 | c.7090C>G (p.Leu2364Val) n.531C>G n.522C>G c.7072C>G (p.Leu2358Val) | |
| 1 | g.158612861G= | CA1143536957 | SPTA1 | c.7090C= (p.Leu2364=) n.531C= n.522C= c.7072C= (p.Leu2358=) | |
| 1 | g.158612861G>T | CA343011223 | SPTA1 | c.7090C>A (p.Leu2364Met) n.531C>A n.522C>A c.7072C>A (p.Leu2358Met) | |
| 1 | g.158612862G>A | CA1181734 | SPTA1 | c.7089C>T (p.Ala2363=) n.530C>T n.521C>T c.7071C>T (p.Ala2357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612862G>C | CA421212455 | SPTA1 | c.7089C>G (p.Ala2363=) n.530C>G n.521C>G c.7071C>G (p.Ala2357=) | |
| 1 | g.158612862G= | CA1146240546 | SPTA1 | c.7089C= (p.Ala2363=) n.530C= n.521C= c.7071C= (p.Ala2357=) | |
| 1 | g.158612862G>T | CA421212451 | SPTA1 | c.7089C>A (p.Ala2363=) n.530C>A n.521C>A c.7071C>A (p.Ala2357=) | |
| 1 | g.158612863G>A | CA343011229 | SPTA1 | c.7088C>T (p.Ala2363Val) n.529C>T n.520C>T c.7070C>T (p.Ala2357Val) | |
| 1 | g.158612863G>C | CA343011231 | SPTA1 | c.7088C>G (p.Ala2363Gly) n.529C>G n.520C>G c.7070C>G (p.Ala2357Gly) | |
| 1 | g.158612863G>T | CA343011234 | SPTA1 | c.7088C>A (p.Ala2363Asp) n.529C>A n.520C>A c.7070C>A (p.Ala2357Asp) | |
| 1 | g.158612864del | CA2648555639 | SPTA1 | c.7087del (p.Ala2363ProfsTer14) n.528del n.519del c.7069del (p.Ala2357ProfsTer14) | gnomAD v4 |
| 1 | g.158612864C>A | CA343011241 | SPTA1 | c.7087G>T (p.Ala2363Ser) n.528G>T n.519G>T c.7069G>T (p.Ala2357Ser) | |
| 1 | g.158612864C>G | CA343011243 | SPTA1 | c.7087G>C (p.Ala2363Pro) n.528G>C n.519G>C c.7069G>C (p.Ala2357Pro) | |
| 1 | g.158612864C>T | CA343011245 | SPTA1 | c.7087G>A (p.Ala2363Thr) n.528G>A n.519G>A c.7069G>A (p.Ala2357Thr) | |
| 1 | g.158612865T>A | CA343011248 | SPTA1 | c.7086A>T (p.Gln2362His) n.527A>T n.518A>T c.7068A>T (p.Gln2356His) | |
| 1 | g.158612865T>C | CA421212472 | SPTA1 | c.7086A>G (p.Gln2362=) n.527A>G n.518A>G c.7068A>G (p.Gln2356=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612865T>G | CA343011249 | SPTA1 | c.7086A>C (p.Gln2362His) n.527A>C n.518A>C c.7068A>C (p.Gln2356His) | |
| 1 | g.158612865T= | CA1201536921 | SPTA1 | c.7086A= (p.Gln2362=) n.527A= n.518A= c.7068A= (p.Gln2356=) | |
| 1 | g.158612866T>A | CA343011252 | SPTA1 | c.7085A>T (p.Gln2362Leu) n.526A>T n.517A>T c.7067A>T (p.Gln2356Leu) | |
| 1 | g.158612866T>C | CA343011254 | SPTA1 | c.7085A>G (p.Gln2362Arg) n.526A>G n.517A>G c.7067A>G (p.Gln2356Arg) | dbSNP |
| 1 | g.158612866T>G | CA343011255 | SPTA1 | c.7085A>C (p.Gln2362Pro) n.526A>C n.517A>C c.7067A>C (p.Gln2356Pro) | |
| 1 | g.158612866T= | CA1201536922 | SPTA1 | c.7085A= (p.Gln2362=) n.526A= n.517A= c.7067A= (p.Gln2356=) | |
| 1 | g.158612867G>A | CA343011259 | SPTA1 | c.7084C>T (p.Gln2362Ter) n.525C>T n.516C>T c.7066C>T (p.Gln2356Ter) | gnomAD v4 |
| 1 | g.158612867G>C | CA343011261 | SPTA1 | c.7084C>G (p.Gln2362Glu) n.525C>G n.516C>G c.7066C>G (p.Gln2356Glu) | |
| 1 | g.158612867G>T | CA343011264 | SPTA1 | c.7084C>A (p.Gln2362Lys) n.525C>A n.516C>A c.7066C>A (p.Gln2356Lys) | gnomAD v4 |
| 1 | g.158612868G>A | CA421212512 | SPTA1 | c.7083C>T (p.Phe2361=) n.524C>T n.515C>T c.7065C>T (p.Phe2355=) | COSMIC |
| 1 | g.158612868G>C | CA343011266 | SPTA1 | c.7083C>G (p.Phe2361Leu) n.524C>G n.515C>G c.7065C>G (p.Phe2355Leu) | |
| 1 | g.158612868G>T | CA343011269 | SPTA1 | c.7083C>A (p.Phe2361Leu) n.524C>A n.515C>A c.7065C>A (p.Phe2355Leu) | |
| 1 | g.158612869A>C | CA343011275 | SPTA1 | c.7082T>G (p.Phe2361Cys) n.523T>G n.514T>G c.7064T>G (p.Phe2355Cys) | |
| 1 | g.158612869A>G | CA343011278 | SPTA1 | c.7082T>C (p.Phe2361Ser) n.523T>C n.514T>C c.7064T>C (p.Phe2355Ser) | |
| 1 | g.158612869A>T | CA343011281 | SPTA1 | c.7082T>A (p.Phe2361Tyr) n.523T>A n.514T>A c.7064T>A (p.Phe2355Tyr) | |
| 1 | g.158612870A>C | CA343011285 | SPTA1 | c.7081T>G (p.Phe2361Val) n.522T>G n.513T>G c.7063T>G (p.Phe2355Val) | |
| 1 | g.158612870A>G | CA343011290 | SPTA1 | c.7081T>C (p.Phe2361Leu) n.522T>C n.513T>C c.7063T>C (p.Phe2355Leu) | |
| 1 | g.158612870A>T | CA343011288 | SPTA1 | c.7081T>A (p.Phe2361Ile) n.522T>A n.513T>A c.7063T>A (p.Phe2355Ile) | |
| 1 | g.158612871G>A | CA421212532 | SPTA1 | c.7080C>T (p.Ala2360=) n.521C>T n.512C>T c.7062C>T (p.Ala2354=) | dbSNP gnomAD v4 |
| 1 | g.158612871G>C | CA421212535 | SPTA1 | c.7080C>G (p.Ala2360=) n.521C>G n.512C>G c.7062C>G (p.Ala2354=) | |
| 1 | g.158612871G= | CA1201536923 | SPTA1 | c.7080C= (p.Ala2360=) n.521C= n.512C= c.7062C= (p.Ala2354=) | |
| 1 | g.158612871G>T | CA421212537 | SPTA1 | c.7080C>A (p.Ala2360=) n.521C>A n.512C>A c.7062C>A (p.Ala2354=) | |
| 1 | g.158612872G>A | CA1181736 | SPTA1 | c.7079C>T (p.Ala2360Val) n.520C>T n.511C>T c.7061C>T (p.Ala2354Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612872G>C | CA1181735 | SPTA1 | c.7079C>G (p.Ala2360Gly) n.520C>G n.511C>G c.7061C>G (p.Ala2354Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612872G= | CA1144068004 | SPTA1 | c.7079C= (p.Ala2360=) n.520C= n.511C= c.7061C= (p.Ala2354=) | |
| 1 | g.158612872G>T | CA343011294 | SPTA1 | c.7079C>A (p.Ala2360Asp) n.520C>A n.511C>A c.7061C>A (p.Ala2354Asp) | gnomAD v4 |
| 1 | g.158612873C>A | CA343011298 | SPTA1 | c.7078G>T (p.Ala2360Ser) n.519G>T n.510G>T c.7060G>T (p.Ala2354Ser) | |
| 1 | g.158612873C>G | CA343011301 | SPTA1 | c.7078G>C (p.Ala2360Pro) n.519G>C n.510G>C c.7060G>C (p.Ala2354Pro) | |
| 1 | g.158612873C>T | CA343011303 | SPTA1 | c.7078G>A (p.Ala2360Thr) n.519G>A n.510G>A c.7060G>A (p.Ala2354Thr) | |
| 1 | g.158612874A= | CA1201536924 | SPTA1 | c.7077T= (p.Asn2359=) n.518T= n.509T= c.7059T= (p.Asn2353=) | |
| 1 | g.158612874A>C | CA343011307 | SPTA1 | c.7077T>G (p.Asn2359Lys) n.518T>G n.509T>G c.7059T>G (p.Asn2353Lys) | |
| 1 | g.158612874A>G | CA421212561 | SPTA1 | c.7077T>C (p.Asn2359=) n.518T>C n.509T>C c.7059T>C (p.Asn2353=) | dbSNP |
| 1 | g.158612874A>T | CA343011309 | SPTA1 | c.7077T>A (p.Asn2359Lys) n.518T>A n.509T>A c.7059T>A (p.Asn2353Lys) | dbSNP |
| 1 | g.158612875T>A | CA343011312 | SPTA1 | c.7076A>T (p.Asn2359Ile) n.517A>T n.508A>T c.7058A>T (p.Asn2353Ile) | |
| 1 | g.158612875T>C | CA343011315 | SPTA1 | c.7076A>G (p.Asn2359Ser) n.517A>G n.508A>G c.7058A>G (p.Asn2353Ser) | COSMIC |
| 1 | g.158612875T>G | CA343011318 | SPTA1 | c.7076A>C (p.Asn2359Thr) n.517A>C n.508A>C c.7058A>C (p.Asn2353Thr) | |
| 1 | g.158612876T>A | CA1181737 | SPTA1 | c.7075A>T (p.Asn2359Tyr) n.516A>T n.507A>T c.7057A>T (p.Asn2353Tyr) | dbSNP ExAC |
| 1 | g.158612876T>C | CA343011322 | SPTA1 | c.7075A>G (p.Asn2359Asp) n.516A>G n.507A>G c.7057A>G (p.Asn2353Asp) | |
| 1 | g.158612876T>G | CA343011325 | SPTA1 | c.7075A>C (p.Asn2359His) n.516A>C n.507A>C c.7057A>C (p.Asn2353His) | |
| 1 | g.158612876T= | CA1201536925 | SPTA1 | c.7075A= (p.Asn2359=) n.516A= n.507A= c.7057A= (p.Asn2353=) | |
| 1 | g.158612877C>A | CA343011328 | SPTA1 | c.7074G>T (p.Glu2358Asp) n.515G>T n.506G>T c.7056G>T (p.Glu2352Asp) | gnomAD v4 |
| 1 | g.158612877C>G | CA343011330 | SPTA1 | c.7074G>C (p.Glu2358Asp) n.515G>C n.506G>C c.7056G>C (p.Glu2352Asp) | |
| 1 | g.158612877C>T | CA421212582 | SPTA1 | c.7074G>A (p.Glu2358=) n.515G>A n.506G>A c.7056G>A (p.Glu2352=) | gnomAD v4 |
| 1 | g.158612878T>A | CA343011331 | SPTA1 | c.7073A>T (p.Glu2358Val) n.514A>T n.505A>T c.7055A>T (p.Glu2352Val) | gnomAD v4 |
| 1 | g.158612878T>C | CA343011336 | SPTA1 | c.7073A>G (p.Glu2358Gly) n.514A>G n.505A>G c.7055A>G (p.Glu2352Gly) | |
| 1 | g.158612878T>G | CA343011334 | SPTA1 | c.7073A>C (p.Glu2358Ala) n.514A>C n.505A>C c.7055A>C (p.Glu2352Ala) | |
| 1 | g.158612879C>A | CA343011339 | SPTA1 | c.7072G>T (p.Glu2358Ter) n.513G>T n.504G>T c.7054G>T (p.Glu2352Ter) | |
| 1 | g.158612879C= | CA1201536926 | SPTA1 | c.7072G= (p.Glu2358=) n.513G= n.504G= c.7054G= (p.Glu2352=) | |
| 1 | g.158612879C>G | CA343011342 | SPTA1 | c.7072G>C (p.Glu2358Gln) n.513G>C n.504G>C c.7054G>C (p.Glu2352Gln) | |
| 1 | g.158612879C>T | CA343011345 | SPTA1 | c.7072G>A (p.Glu2358Lys) n.513G>A n.504G>A c.7054G>A (p.Glu2352Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.158612880T>A | CA421212602 | SPTA1 | c.7071A>T (p.Ile2357=) n.512A>T n.503A>T c.7053A>T (p.Ile2351=) | |
| 1 | g.158612880T>C | CA343011349 | SPTA1 | c.7071A>G (p.Ile2357Met) n.512A>G n.503A>G c.7053A>G (p.Ile2351Met) | ClinVar dbSNP |
| 1 | g.158612880T>G | CA421212606 | SPTA1 | c.7071A>C (p.Ile2357=) n.512A>C n.503A>C c.7053A>C (p.Ile2351=) | |
| 1 | g.158612880T= | CA1201536927 | SPTA1 | c.7071A= (p.Ile2357=) n.512A= n.503A= c.7053A= (p.Ile2351=) | |
| 1 | g.158612881A= | CA1201536928 | SPTA1 | c.7070T= (p.Ile2357=) n.511T= n.502T= c.7052T= (p.Ile2351=) | |
| 1 | g.158612881A>C | CA343011356 | SPTA1 | c.7070T>G (p.Ile2357Arg) n.511T>G n.502T>G c.7052T>G (p.Ile2351Arg) | |
| 1 | g.158612881A>G | CA343011358 | SPTA1 | c.7070T>C (p.Ile2357Thr) n.511T>C n.502T>C c.7052T>C (p.Ile2351Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612881A>T | CA343011360 | SPTA1 | c.7070T>A (p.Ile2357Lys) n.511T>A n.502T>A c.7052T>A (p.Ile2351Lys) | |
| 1 | g.158612882T>A | CA343011365 | SPTA1 | c.7069A>T (p.Ile2357Leu) n.510A>T n.501A>T c.7051A>T (p.Ile2351Leu) | gnomAD v4 |
| 1 | g.158612882T>C | CA343011366 | SPTA1 | c.7069A>G (p.Ile2357Val) n.510A>G n.501A>G c.7051A>G (p.Ile2351Val) | ClinVar |
| 1 | g.158612882T>G | CA343011369 | SPTA1 | c.7069A>C (p.Ile2357Leu) n.510A>C n.501A>C c.7051A>C (p.Ile2351Leu) | |
| 1 | g.158612883T>A | CA343011373 | SPTA1 | c.7068A>T (p.Glu2356Asp) n.509A>T n.500A>T c.7050A>T (p.Glu2350Asp) | |
| 1 | g.158612883T>C | CA421212623 | SPTA1 | c.7068A>G (p.Glu2356=) n.509A>G n.500A>G c.7050A>G (p.Glu2350=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612883T>G | CA1181738 | SPTA1 | c.7068A>C (p.Glu2356Asp) n.509A>C n.500A>C c.7050A>C (p.Glu2350Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612883T= | CA1141100563 | SPTA1 | c.7068A= (p.Glu2356=) n.509A= n.500A= c.7050A= (p.Glu2350=) | |
| 1 | g.158612884T>A | CA343011376 | SPTA1 | c.7067A>T (p.Glu2356Val) n.508A>T n.499A>T c.7049A>T (p.Glu2350Val) | |
| 1 | g.158612884T>C | CA343011377 | SPTA1 | c.7067A>G (p.Glu2356Gly) n.508A>G n.499A>G c.7049A>G (p.Glu2350Gly) | |
| 1 | g.158612884T>G | CA343011380 | SPTA1 | c.7067A>C (p.Glu2356Ala) n.508A>C n.499A>C c.7049A>C (p.Glu2350Ala) | |
| 1 | g.158612885C>A | CA343011383 | SPTA1 | c.7066G>T (p.Glu2356Ter) n.507G>T n.498G>T c.7048G>T (p.Glu2350Ter) | |
| 1 | g.158612885C= | CA1201536929 | SPTA1 | c.7066G= (p.Glu2356=) n.507G= n.498G= c.7048G= (p.Glu2350=) | |
| 1 | g.158612885C>G | CA343011386 | SPTA1 | c.7066G>C (p.Glu2356Gln) n.507G>C n.498G>C c.7048G>C (p.Glu2350Gln) | |
| 1 | g.158612885C>T | CA343011387 | SPTA1 | c.7066G>A (p.Glu2356Lys) n.507G>A n.498G>A c.7048G>A (p.Glu2350Lys) | dbSNP |
| 1 | g.158612886A= | CA1201536930 | SPTA1 | c.7065T= (p.Asp2355=) n.506T= n.497T= c.7047T= (p.Asp2349=) | |
| 1 | g.158612886A>C | CA343011389 | SPTA1 | c.7065T>G (p.Asp2355Glu) n.506T>G n.497T>G c.7047T>G (p.Asp2349Glu) | dbSNP |
| 1 | g.158612886A>G | CA421212639 | SPTA1 | c.7065T>C (p.Asp2355=) n.506T>C n.497T>C c.7047T>C (p.Asp2349=) | gnomAD v4 COSMIC |
| 1 | g.158612886A>T | CA343011392 | SPTA1 | c.7065T>A (p.Asp2355Glu) n.506T>A n.497T>A c.7047T>A (p.Asp2349Glu) | |
| 1 | g.158612887T>A | CA343011395 | SPTA1 | c.7064A>T (p.Asp2355Val) n.505A>T n.496A>T c.7046A>T (p.Asp2349Val) | |
| 1 | g.158612887T>C | CA31250598 | SPTA1 | c.7064A>G (p.Asp2355Gly) n.505A>G n.496A>G c.7046A>G (p.Asp2349Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612887T>G | CA343011400 | SPTA1 | c.7064A>C (p.Asp2355Ala) n.505A>C n.496A>C c.7046A>C (p.Asp2349Ala) | |
| 1 | g.158612887T= | CA1143926911 | SPTA1 | c.7064A= (p.Asp2355=) n.505A= n.496A= c.7046A= (p.Asp2349=) | |
| 1 | g.158612888C>A | CA343011402 | SPTA1 | c.7063G>T (p.Asp2355Tyr) n.504G>T n.495G>T c.7045G>T (p.Asp2349Tyr) | |
| 1 | g.158612888C>G | CA343011409 | SPTA1 | c.7063G>C (p.Asp2355His) n.504G>C n.495G>C c.7045G>C (p.Asp2349His) | |
| 1 | g.158612888C>T | CA343011412 | SPTA1 | c.7063G>A (p.Asp2355Asn) n.504G>A n.495G>A c.7045G>A (p.Asp2349Asn) | |
| 1 | g.158612889A>C | CA343011416 | SPTA1 | c.7062T>G (p.Ser2354Arg) n.503T>G n.494T>G c.7044T>G (p.Ser2348Arg) | gnomAD v4 |
| 1 | g.158612889A>G | CA421212664 | SPTA1 | c.7062T>C (p.Ser2354=) n.503T>C n.494T>C c.7044T>C (p.Ser2348=) | |
| 1 | g.158612889A>T | CA343011419 | SPTA1 | c.7062T>A (p.Ser2354Arg) n.503T>A n.494T>A c.7044T>A (p.Ser2348Arg) | |
| 1 | g.158612890C>A | CA343011426 | SPTA1 | c.7061G>T (p.Ser2354Ile) n.502G>T n.493G>T c.7043G>T (p.Ser2348Ile) | |
| 1 | g.158612890C>G | CA343011435 | SPTA1 | c.7061G>C (p.Ser2354Thr) n.502G>C n.493G>C c.7043G>C (p.Ser2348Thr) | |
| 1 | g.158612890C>T | CA343011440 | SPTA1 | c.7061G>A (p.Ser2354Asn) n.502G>A n.493G>A c.7043G>A (p.Ser2348Asn) | |
| 1 | g.158612891T>A | CA343011444 | SPTA1 | c.7060A>T (p.Ser2354Cys) n.501A>T n.492A>T c.7042A>T (p.Ser2348Cys) | |
| 1 | g.158612891T>C | CA1181739 | SPTA1 | c.7060A>G (p.Ser2354Gly) n.501A>G n.492A>G c.7042A>G (p.Ser2348Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612891T>G | CA343011448 | SPTA1 | c.7060A>C (p.Ser2354Arg) n.501A>C n.492A>C c.7042A>C (p.Ser2348Arg) | |
| 1 | g.158612891T= | CA1141755145 | SPTA1 | c.7060A= (p.Ser2354=) n.501A= n.492A= c.7042A= (p.Ser2348=) | |
| 1 | g.158612892G>A | CA421212680 | SPTA1 | c.7059C>T (p.Ser2353=) n.500C>T n.491C>T c.7041C>T (p.Ser2347=) | |
| 1 | g.158612892G>C | CA421212682 | SPTA1 | c.7059C>G (p.Ser2353=) n.500C>G n.491C>G c.7041C>G (p.Ser2347=) | |
| 1 | g.158612892G>T | CA421212684 | SPTA1 | c.7059C>A (p.Ser2353=) n.500C>A n.491C>A c.7041C>A (p.Ser2347=) | |
| 1 | g.158612893G>A | CA343011451 | SPTA1 | c.7058C>T (p.Ser2353Phe) n.499C>T n.490C>T c.7040C>T (p.Ser2347Phe) | |
| 1 | g.158612893G>C | CA343011453 | SPTA1 | c.7058C>G (p.Ser2353Cys) n.499C>G n.490C>G c.7040C>G (p.Ser2347Cys) | gnomAD v4 |
| 1 | g.158612893G>T | CA343011454 | SPTA1 | c.7058C>A (p.Ser2353Tyr) n.499C>A n.490C>A c.7040C>A (p.Ser2347Tyr) | |
| 1 | g.158612894A>C | CA343011455 | SPTA1 | c.7057T>G (p.Ser2353Ala) n.498T>G n.489T>G c.7039T>G (p.Ser2347Ala) | |
| 1 | g.158612894A>G | CA343011457 | SPTA1 | c.7057T>C (p.Ser2353Pro) n.498T>C n.489T>C c.7039T>C (p.Ser2347Pro) | |
| 1 | g.158612894A>T | CA343011460 | SPTA1 | c.7057T>A (p.Ser2353Thr) n.498T>A n.489T>A c.7039T>A (p.Ser2347Thr) | |
| 1 | g.158612895C>A | CA343011466 | SPTA1 | c.7056G>T (p.Lys2352Asn) n.497G>T n.488G>T c.7038G>T (p.Lys2346Asn) | |
| 1 | g.158612895C= | CA1201536931 | SPTA1 | c.7056G= (p.Lys2352=) n.497G= n.488G= c.7038G= (p.Lys2346=) | |
| 1 | g.158612895C>G | CA1181740 | SPTA1 | c.7056G>C (p.Lys2352Asn) n.497G>C n.488G>C c.7038G>C (p.Lys2346Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612895C>T | CA421212706 | SPTA1 | c.7056G>A (p.Lys2352=) n.497G>A n.488G>A c.7038G>A (p.Lys2346=) | |
| 1 | g.158612896T>A | CA343011474 | SPTA1 | c.7055A>T (p.Lys2352Met) n.496A>T n.487A>T c.7037A>T (p.Lys2346Met) | |
| 1 | g.158612896T>C | CA343011488 | SPTA1 | c.7055A>G (p.Lys2352Arg) n.496A>G n.487A>G c.7037A>G (p.Lys2346Arg) | |
| 1 | g.158612896T>G | CA343011482 | SPTA1 | c.7055A>C (p.Lys2352Thr) n.496A>C n.487A>C c.7037A>C (p.Lys2346Thr) | gnomAD v4 COSMIC |
| 1 | g.158612897T>A | CA343011490 | SPTA1 | c.7054A>T (p.Lys2352Ter) n.495A>T n.486A>T c.7036A>T (p.Lys2346Ter) | |
| 1 | g.158612897T>C | CA343011493 | SPTA1 | c.7054A>G (p.Lys2352Glu) n.495A>G n.486A>G c.7036A>G (p.Lys2346Glu) | |
| 1 | g.158612897T>G | CA343011496 | SPTA1 | c.7054A>C (p.Lys2352Gln) n.495A>C n.486A>C c.7036A>C (p.Lys2346Gln) | |
| 1 | g.158612898G>A | CA421212717 | SPTA1 | c.7053C>T (p.Ile2351=) n.494C>T n.485C>T c.7035C>T (p.Ile2345=) | COSMIC |
| 1 | g.158612898G>C | CA343011499 | SPTA1 | c.7053C>G (p.Ile2351Met) n.494C>G n.485C>G c.7035C>G (p.Ile2345Met) | |
| 1 | g.158612898G>T | CA421212720 | SPTA1 | c.7053C>A (p.Ile2351=) n.494C>A n.485C>A c.7035C>A (p.Ile2345=) | |
| 1 | g.158612899A>C | CA343011503 | SPTA1 | c.7052T>G (p.Ile2351Ser) n.493T>G n.484T>G c.7034T>G (p.Ile2345Ser) | |
| 1 | g.158612899A>G | CA343011504 | SPTA1 | c.7052T>C (p.Ile2351Thr) n.493T>C n.484T>C c.7034T>C (p.Ile2345Thr) | |
| 1 | g.158612899A>T | CA343011505 | SPTA1 | c.7052T>A (p.Ile2351Asn) n.493T>A n.484T>A c.7034T>A (p.Ile2345Asn) | |
| 1 | g.158612900T>A | CA343011514 | SPTA1 | c.7051A>T (p.Ile2351Phe) n.492A>T n.483A>T c.7033A>T (p.Ile2345Phe) | |
| 1 | g.158612900T>C | CA343011507 | SPTA1 | c.7051A>G (p.Ile2351Val) n.492A>G n.483A>G c.7033A>G (p.Ile2345Val) | dbSNP gnomAD v4 |
| 1 | g.158612900T>G | CA343011509 | SPTA1 | c.7051A>C (p.Ile2351Leu) n.492A>C n.483A>C c.7033A>C (p.Ile2345Leu) | |
| 1 | g.158612900T= | CA1201536932 | SPTA1 | c.7051A= (p.Ile2351=) n.492A= n.483A= c.7033A= (p.Ile2345=) | |
| 1 | g.158612901G>A | CA421212732 | SPTA1 | c.7050C>T (p.Asn2350=) n.491C>T n.482C>T c.7032C>T (p.Asn2344=) | gnomAD v4 |
| 1 | g.158612901G>C | CA343011517 | SPTA1 | c.7050C>G (p.Asn2350Lys) n.491C>G n.482C>G c.7032C>G (p.Asn2344Lys) | |
| 1 | g.158612901G>T | CA343011521 | SPTA1 | c.7050C>A (p.Asn2350Lys) n.491C>A n.482C>A c.7032C>A (p.Asn2344Lys) | |
| 1 | g.158612902T>A | CA343011524 | SPTA1 | c.7049A>T (p.Asn2350Ile) n.490A>T n.481A>T c.7031A>T (p.Asn2344Ile) | |
| 1 | g.158612902T>C | CA343011527 | SPTA1 | c.7049A>G (p.Asn2350Ser) n.490A>G n.481A>G c.7031A>G (p.Asn2344Ser) | |
| 1 | g.158612902T>G | CA343011534 | SPTA1 | c.7049A>C (p.Asn2350Thr) n.490A>C n.481A>C c.7031A>C (p.Asn2344Thr) | |
| 1 | g.158612903T>A | CA343011537 | SPTA1 | c.7048A>T (p.Asn2350Tyr) n.489A>T n.480A>T c.7030A>T (p.Asn2344Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612903T>C | CA31250623 | SPTA1 | c.7048A>G (p.Asn2350Asp) n.489A>G n.480A>G c.7030A>G (p.Asn2344Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612903T>G | CA343011540 | SPTA1 | c.7048A>C (p.Asn2350His) n.489A>C n.480A>C c.7030A>C (p.Asn2344His) | gnomAD v4 |
| 1 | g.158612903T= | CA1201536933 | SPTA1 | c.7048A= (p.Asn2350=) n.489A= n.480A= c.7030A= (p.Asn2344=) | |
| 1 | g.158612904T>A | CA343011545 | SPTA1 | c.7047A>T (p.Glu2349Asp) n.488A>T n.479A>T c.7029A>T (p.Glu2343Asp) | |
| 1 | g.158612904T>C | CA421212752 | SPTA1 | c.7047A>G (p.Glu2349=) n.488A>G n.479A>G c.7029A>G (p.Glu2343=) | gnomAD v4 |
| 1 | g.158612904T>G | CA343011547 | SPTA1 | c.7047A>C (p.Glu2349Asp) n.488A>C n.479A>C c.7029A>C (p.Glu2343Asp) | |
| 1 | g.158612905T>A | CA343011549 | SPTA1 | c.7046A>T (p.Glu2349Val) n.487A>T n.478A>T c.7028A>T (p.Glu2343Val) | |
| 1 | g.158612905T>C | CA343011552 | SPTA1 | c.7046A>G (p.Glu2349Gly) n.487A>G n.478A>G c.7028A>G (p.Glu2343Gly) | gnomAD v4 |
| 1 | g.158612905T>G | CA343011555 | SPTA1 | c.7046A>C (p.Glu2349Ala) n.487A>C n.478A>C c.7028A>C (p.Glu2343Ala) | gnomAD v4 |
| 1 | g.158612906C>A | CA343011557 | SPTA1 | c.7045G>T (p.Glu2349Ter) n.486G>T n.477G>T c.7027G>T (p.Glu2343Ter) | |
| 1 | g.158612906C>G | CA343011559 | SPTA1 | c.7045G>C (p.Glu2349Gln) n.486G>C n.477G>C c.7027G>C (p.Glu2343Gln) | |
| 1 | g.158612906C>T | CA343011561 | SPTA1 | c.7045G>A (p.Glu2349Lys) n.486G>A n.477G>A c.7027G>A (p.Glu2343Lys) | gnomAD v4 |
| 1 | g.158612907T>A | CA421212772 | SPTA1 | c.7044A>T (p.Ser2348=) n.485A>T n.476A>T c.7026A>T (p.Ser2342=) | |
| 1 | g.158612907T>C | CA421212769 | SPTA1 | c.7044A>G (p.Ser2348=) n.485A>G n.476A>G c.7026A>G (p.Ser2342=) | gnomAD v4 COSMIC |
| 1 | g.158612907T>G | CA421212768 | SPTA1 | c.7044A>C (p.Ser2348=) n.485A>C n.476A>C c.7026A>C (p.Ser2342=) | |
| 1 | g.158612908G>A | CA343011564 | SPTA1 | c.7043C>T (p.Ser2348Leu) n.484C>T n.475C>T c.7025C>T (p.Ser2342Leu) | |
| 1 | g.158612908G>C | CA343011567 | SPTA1 | c.7043C>G (p.Ser2348Ter) n.484C>G n.475C>G c.7025C>G (p.Ser2342Ter) | |
| 1 | g.158612908G>T | CA343011569 | SPTA1 | c.7043C>A (p.Ser2348Ter) n.484C>A n.475C>A c.7025C>A (p.Ser2342Ter) | |
| 1 | g.158612909A>C | CA343011570 | SPTA1 | c.7042T>G (p.Ser2348Ala) n.483T>G n.474T>G c.7024T>G (p.Ser2342Ala) | |
| 1 | g.158612909A>G | CA343011576 | SPTA1 | c.7042T>C (p.Ser2348Pro) n.483T>C n.474T>C c.7024T>C (p.Ser2342Pro) | |
| 1 | g.158612909A>T | CA343011573 | SPTA1 | c.7042T>A (p.Ser2348Thr) n.483T>A n.474T>A c.7024T>A (p.Ser2342Thr) | |
| 1 | g.158612910C>A | CA343011579 | SPTA1 | c.7041G>T (p.Glu2347Asp) n.482G>T n.473G>T c.7023G>T (p.Glu2341Asp) | |
| 1 | g.158612910C>G | CA343011581 | SPTA1 | c.7041G>C (p.Glu2347Asp) n.482G>C n.473G>C c.7023G>C (p.Glu2341Asp) | |
| 1 | g.158612910C>T | CA421212788 | SPTA1 | c.7041G>A (p.Glu2347=) n.482G>A n.473G>A c.7023G>A (p.Glu2341=) | dbSNP |
| 1 | g.158612911T>A | CA343011585 | SPTA1 | c.7040A>T (p.Glu2347Val) n.481A>T n.472A>T c.7022A>T (p.Glu2341Val) | gnomAD v4 |
| 1 | g.158612911T>C | CA343011587 | SPTA1 | c.7040A>G (p.Glu2347Gly) n.481A>G n.472A>G c.7022A>G (p.Glu2341Gly) | |
| 1 | g.158612911T>G | CA343011588 | SPTA1 | c.7040A>C (p.Glu2347Ala) n.481A>C n.472A>C c.7022A>C (p.Glu2341Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612911T= | CA1201536934 | SPTA1 | c.7040A= (p.Glu2347=) n.481A= n.472A= c.7022A= (p.Glu2341=) | |
| 1 | g.158612912C>A | CA1181742 | SPTA1 | c.7039G>T (p.Glu2347Ter) n.480G>T n.471G>T c.7021G>T (p.Glu2341Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612912C= | CA1201536935 | SPTA1 | c.7039G= (p.Glu2347=) n.480G= n.471G= c.7021G= (p.Glu2341=) | |
| 1 | g.158612912C>G | CA1181743 | SPTA1 | c.7039G>C (p.Glu2347Gln) n.480G>C n.471G>C c.7021G>C (p.Glu2341Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612912C>T | CA1181741 | SPTA1 | c.7039G>A (p.Glu2347Lys) n.480G>A n.471G>A c.7021G>A (p.Glu2341Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.158612913C>A | CA343011590 | SPTA1 | c.7038G>T (p.Lys2346Asn) n.479G>T n.470G>T c.7020G>T (p.Lys2340Asn) | |
| 1 | g.158612913C>G | CA343011591 | SPTA1 | c.7038G>C (p.Lys2346Asn) n.479G>C n.470G>C c.7020G>C (p.Lys2340Asn) | |
| 1 | g.158612913C>T | CA421212806 | SPTA1 | c.7038G>A (p.Lys2346=) n.479G>A n.470G>A c.7020G>A (p.Lys2340=) | gnomAD v4 |
| 1 | g.158612914T>A | CA343011592 | SPTA1 | c.7037A>T (p.Lys2346Met) n.478A>T n.469A>T c.7019A>T (p.Lys2340Met) | |
| 1 | g.158612914T>C | CA343011594 | SPTA1 | c.7037A>G (p.Lys2346Arg) n.478A>G n.469A>G c.7019A>G (p.Lys2340Arg) | |
| 1 | g.158612914T>G | CA343011596 | SPTA1 | c.7037A>C (p.Lys2346Thr) n.478A>C n.469A>C c.7019A>C (p.Lys2340Thr) | |
| 1 | g.158612915T>A | CA343011599 | SPTA1 | c.7036A>T (p.Lys2346Ter) n.477A>T n.468A>T c.7018A>T (p.Lys2340Ter) | |
| 1 | g.158612915T>C | CA343011604 | SPTA1 | c.7036A>G (p.Lys2346Glu) n.477A>G n.468A>G c.7018A>G (p.Lys2340Glu) | |
| 1 | g.158612915T>G | CA343011601 | SPTA1 | c.7036A>C (p.Lys2346Gln) n.477A>C n.468A>C c.7018A>C (p.Lys2340Gln) | |
| 1 | g.158612916G>A | CA421212827 | SPTA1 | c.7035C>T (p.Asp2345=) n.476C>T n.467C>T c.7017C>T (p.Asp2339=) | |
| 1 | g.158612916G>C | CA343011607 | SPTA1 | c.7035C>G (p.Asp2345Glu) n.476C>G n.467C>G c.7017C>G (p.Asp2339Glu) | COSMIC |
| 1 | g.158612916G>T | CA343011609 | SPTA1 | c.7035C>A (p.Asp2345Glu) n.476C>A n.467C>A c.7017C>A (p.Asp2339Glu) | |
| 1 | g.158612917T>A | CA343011611 | SPTA1 | c.7034A>T (p.Asp2345Val) n.475A>T n.466A>T c.7016A>T (p.Asp2339Val) | |
| 1 | g.158612917T>C | CA343011614 | SPTA1 | c.7034A>G (p.Asp2345Gly) n.475A>G n.466A>G c.7016A>G (p.Asp2339Gly) | dbSNP gnomAD v2 |
| 1 | g.158612917T>G | CA343011616 | SPTA1 | c.7034A>C (p.Asp2345Ala) n.475A>C n.466A>C c.7016A>C (p.Asp2339Ala) | |
| 1 | g.158612917T= | CA1201536936 | SPTA1 | c.7034A= (p.Asp2345=) n.475A= n.466A= c.7016A= (p.Asp2339=) | |
| 1 | g.158612918C>A | CA343011617 | SPTA1 | c.7033G>T (p.Asp2345Tyr) n.474G>T n.465G>T c.7015G>T (p.Asp2339Tyr) | |
| 1 | g.158612918C= | CA1201536937 | SPTA1 | c.7033G= (p.Asp2345=) n.474G= n.465G= c.7015G= (p.Asp2339=) | |
| 1 | g.158612918C>G | CA343011618 | SPTA1 | c.7033G>C (p.Asp2345His) n.474G>C n.465G>C c.7015G>C (p.Asp2339His) | |
| 1 | g.158612918C>T | CA343011619 | SPTA1 | c.7033G>A (p.Asp2345Asn) n.474G>A n.465G>A c.7015G>A (p.Asp2339Asn) | dbSNP |
| 1 | g.158612919A= | CA1142340623 | SPTA1 | c.7032T= (p.Ile2344=) n.473T= n.464T= c.7014T= (p.Ile2338=) | |
| 1 | g.158612919A>C | CA343011620 | SPTA1 | c.7032T>G (p.Ile2344Met) n.473T>G n.464T>G c.7014T>G (p.Ile2338Met) | |
| 1 | g.158612919A>G | CA421212845 | SPTA1 | c.7032T>C (p.Ile2344=) n.473T>C n.464T>C c.7014T>C (p.Ile2338=) | dbSNP |
| 1 | g.158612919A>T | CA1181744 | SPTA1 | c.7032T>A (p.Ile2344=) n.473T>A n.464T>A c.7014T>A (p.Ile2338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612920del | CA2648555640 | SPTA1 | c.7032del (p.Ile2344MetfsTer14) n.473del n.464del c.7014del (p.Ile2338MetfsTer14) | gnomAD v4 |