| 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) | |
| 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) | 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) |