Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53248100_53248101del | CA2579614576 | IQSEC2 | c.2741+14_2741+15del (n.2741+14_2741+15del) c.534+14_534+15del c.43+14_43+15del c.2582+14_2582+15del (n.2582+14_2582+15del) n.333+14_333+15del c.2552+14_2552+15del (n.2552+14_2552+15del) c.1967+14_1967+15del (n.1967+14_1967+15del) c.2678+14_2678+15del (n.2678+14_2678+15del) c.1904+14_1904+15del (n.1904+14_1904+15del) c.1871+14_1871+15del (n.1871+14_1871+15del) n.2905+14_2905+15del c.2084+14_2084+15del (n.2084+14_2084+15del) n.2899+14_2899+15del | |
X | g.53248101G>A | CA2693789272 | IQSEC2 | c.2741+13C>T (n.2741+13C>T) c.534+13C>T c.43+13C>T c.2582+13C>T (n.2582+13C>T) n.333+13C>T c.2552+13C>T (n.2552+13C>T) c.1967+13C>T (n.1967+13C>T) c.2678+13C>T (n.2678+13C>T) c.1904+13C>T (n.1904+13C>T) c.1871+13C>T (n.1871+13C>T) n.2905+13C>T c.2084+13C>T (n.2084+13C>T) n.2899+13C>T | gnomAD v4 |
X | g.53248101G>C | CA2594831562 | IQSEC2 | c.2741+13C>G (n.2741+13C>G) c.534+13C>G c.43+13C>G c.2582+13C>G (n.2582+13C>G) n.333+13C>G c.2552+13C>G (n.2552+13C>G) c.1967+13C>G (n.1967+13C>G) c.2678+13C>G (n.2678+13C>G) c.1904+13C>G (n.1904+13C>G) c.1871+13C>G (n.1871+13C>G) n.2905+13C>G c.2084+13C>G (n.2084+13C>G) n.2899+13C>G | gnomAD v3 gnomAD v4 |
X | g.53248101_53248117delinsGAGGTAGGCACACCTGA | CA2429774907 | IQSEC2 | c.2738_2741+13delinsTCAGGTGTGCCTACCTC c.531_534+13delinsTCAGGTGTGCCTACCTC c.40_43+13delinsTCAGGTGTGCCTACCTC c.2579_2582+13delinsTCAGGTGTGCCTACCTC n.330_333+13delinsTCAGGTGTGCCTACCTC c.2549_2552+13delinsTCAGGTGTGCCTACCTC c.1964_1967+13delinsTCAGGTGTGCCTACCTC c.2675_2678+13delinsTCAGGTGTGCCTACCTC c.1901_1904+13delinsTCAGGTGTGCCTACCTC c.1868_1871+13delinsTCAGGTGTGCCTACCTC n.2902_2905+13delinsTCAGGTGTGCCTACCTC c.2081_2084+13delinsTCAGGTGTGCCTACCTC n.2896_2899+13delinsTCAGGTGTGCCTACCTC | |
X | g.53248105_53248120del | CA658824141 | IQSEC2 | c.2738_2741+12del c.531_534+12del c.40_43+12del c.2579_2582+12del n.330_333+12del c.2549_2552+12del c.1964_1967+12del c.2675_2678+12del c.1901_1904+12del c.1868_1871+12del n.2902_2905+12del c.2081_2084+12del n.2896_2899+12del | ClinVar dbSNP |
X | g.53248103G>A | CA2693789278 | IQSEC2 | c.2741+11C>T (n.2741+11C>T) c.534+11C>T c.43+11C>T c.2582+11C>T (n.2582+11C>T) n.333+11C>T c.2552+11C>T (n.2552+11C>T) c.1967+11C>T (n.1967+11C>T) c.2678+11C>T (n.2678+11C>T) c.1904+11C>T (n.1904+11C>T) c.1871+11C>T (n.1871+11C>T) n.2905+11C>T c.2084+11C>T (n.2084+11C>T) n.2899+11C>T | gnomAD v4 |
X | g.53248103G= | CA2429774908 | IQSEC2 | c.2741+11C= (n.2741+11C=) c.534+11C= c.43+11C= c.2582+11C= (n.2582+11C=) n.333+11C= c.2552+11C= (n.2552+11C=) c.1967+11C= (n.1967+11C=) c.2678+11C= (n.2678+11C=) c.1904+11C= (n.1904+11C=) c.1871+11C= (n.1871+11C=) n.2905+11C= c.2084+11C= (n.2084+11C=) n.2899+11C= | |
X | g.53248103G>T | CA10419919 | IQSEC2 | c.2741+11C>A (n.2741+11C>A) c.534+11C>A c.43+11C>A c.2582+11C>A (n.2582+11C>A) n.333+11C>A c.2552+11C>A (n.2552+11C>A) c.1967+11C>A (n.1967+11C>A) c.2678+11C>A (n.2678+11C>A) c.1904+11C>A (n.1904+11C>A) c.1871+11C>A (n.1871+11C>A) n.2905+11C>A c.2084+11C>A (n.2084+11C>A) n.2899+11C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248105T>C | CA2693789286 | IQSEC2 | c.2741+9A>G (n.2741+9A>G) c.534+9A>G c.43+9A>G c.2582+9A>G (n.2582+9A>G) n.333+9A>G c.2552+9A>G (n.2552+9A>G) c.1967+9A>G (n.1967+9A>G) c.2678+9A>G (n.2678+9A>G) c.1904+9A>G (n.1904+9A>G) c.1871+9A>G (n.1871+9A>G) n.2905+9A>G c.2084+9A>G (n.2084+9A>G) n.2899+9A>G | gnomAD v4 |
X | g.53248106_53248107del | CA2579614577 | IQSEC2 | c.2741+7_2741+8del (n.2741+7_2741+8del) c.534+7_534+8del c.43+7_43+8del c.2582+7_2582+8del (n.2582+7_2582+8del) n.333+7_333+8del c.2552+7_2552+8del (n.2552+7_2552+8del) c.1967+7_1967+8del (n.1967+7_1967+8del) c.2678+7_2678+8del (n.2678+7_2678+8del) c.1904+7_1904+8del (n.1904+7_1904+8del) c.1871+7_1871+8del (n.1871+7_1871+8del) n.2905+7_2905+8del c.2084+7_2084+8del (n.2084+7_2084+8del) n.2899+7_2899+8del | |
X | g.53248107G>C | CA2693789323 | IQSEC2 | c.2741+7C>G (n.2741+7C>G) c.534+7C>G c.43+7C>G c.2582+7C>G (n.2582+7C>G) n.333+7C>G c.2552+7C>G (n.2552+7C>G) c.1967+7C>G (n.1967+7C>G) c.2678+7C>G (n.2678+7C>G) c.1904+7C>G (n.1904+7C>G) c.1871+7C>G (n.1871+7C>G) n.2905+7C>G c.2084+7C>G (n.2084+7C>G) n.2899+7C>G | gnomAD v4 |
X | g.53248107G>T | CA2693789292 | IQSEC2 | c.2741+7C>A (n.2741+7C>A) c.534+7C>A c.43+7C>A c.2582+7C>A (n.2582+7C>A) n.333+7C>A c.2552+7C>A (n.2552+7C>A) c.1967+7C>A (n.1967+7C>A) c.2678+7C>A (n.2678+7C>A) c.1904+7C>A (n.1904+7C>A) c.1871+7C>A (n.1871+7C>A) n.2905+7C>A c.2084+7C>A (n.2084+7C>A) n.2899+7C>A | gnomAD v4 |
X | g.53248108G>A | CA2693789328 | IQSEC2 | c.2741+6C>T (n.2741+6C>T) c.534+6C>T c.43+6C>T c.2582+6C>T (n.2582+6C>T) n.333+6C>T c.2552+6C>T (n.2552+6C>T) c.1967+6C>T (n.1967+6C>T) c.2678+6C>T (n.2678+6C>T) c.1904+6C>T (n.1904+6C>T) c.1871+6C>T (n.1871+6C>T) n.2905+6C>T c.2084+6C>T (n.2084+6C>T) n.2899+6C>T | gnomAD v4 |
X | g.53248110A= | CA2429774909 | IQSEC2 | c.2741+4T= (n.2741+4T=) c.534+4T= c.43+4T= c.2582+4T= (n.2582+4T=) n.333+4T= c.2552+4T= (n.2552+4T=) c.1967+4T= (n.1967+4T=) c.2678+4T= (n.2678+4T=) c.1904+4T= (n.1904+4T=) c.1871+4T= (n.1871+4T=) n.2905+4T= c.2084+4T= (n.2084+4T=) n.2899+4T= | |
X | g.53248110A>C | CA10419920 | IQSEC2 | c.2741+4T>G (n.2741+4T>G) c.534+4T>G c.43+4T>G c.2582+4T>G (n.2582+4T>G) n.333+4T>G c.2552+4T>G (n.2552+4T>G) c.1967+4T>G (n.1967+4T>G) c.2678+4T>G (n.2678+4T>G) c.1904+4T>G (n.1904+4T>G) c.1871+4T>G (n.1871+4T>G) n.2905+4T>G c.2084+4T>G (n.2084+4T>G) n.2899+4T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248111C>A | CA10419921 | IQSEC2 | c.2741+3G>T (n.2741+3G>T) c.534+3G>T c.43+3G>T c.2582+3G>T (n.2582+3G>T) n.333+3G>T c.2552+3G>T (n.2552+3G>T) c.1967+3G>T (n.1967+3G>T) c.2678+3G>T (n.2678+3G>T) c.1904+3G>T (n.1904+3G>T) c.1871+3G>T (n.1871+3G>T) n.2905+3G>T c.2084+3G>T (n.2084+3G>T) n.2899+3G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53248111C= | CA2429774910 | IQSEC2 | c.2741+3G= (n.2741+3G=) c.534+3G= c.43+3G= c.2582+3G= (n.2582+3G=) n.333+3G= c.2552+3G= (n.2552+3G=) c.1967+3G= (n.1967+3G=) c.2678+3G= (n.2678+3G=) c.1904+3G= (n.1904+3G=) c.1871+3G= (n.1871+3G=) n.2905+3G= c.2084+3G= (n.2084+3G=) n.2899+3G= | |
X | g.53248111C>T | CA641551348 | IQSEC2 | c.2741+3G>A (n.2741+3G>A) c.534+3G>A c.43+3G>A c.2582+3G>A (n.2582+3G>A) n.333+3G>A c.2552+3G>A (n.2552+3G>A) c.1967+3G>A (n.1967+3G>A) c.2678+3G>A (n.2678+3G>A) c.1904+3G>A (n.1904+3G>A) c.1871+3G>A (n.1871+3G>A) n.2905+3G>A c.2084+3G>A (n.2084+3G>A) n.2899+3G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53248112A= | CA2429774911 | IQSEC2 | c.2741+2T= (n.2741+2T=) c.534+2T= c.43+2T= c.2582+2T= (n.2582+2T=) n.333+2T= c.2552+2T= (n.2552+2T=) c.1967+2T= (n.1967+2T=) c.2678+2T= (n.2678+2T=) c.1904+2T= (n.1904+2T=) c.1871+2T= (n.1871+2T=) n.2905+2T= c.2084+2T= (n.2084+2T=) n.2899+2T= | |
X | g.53248112A>C | CA413156716 | IQSEC2 | c.2741+2T>G (n.2741+2T>G) c.534+2T>G c.43+2T>G c.2582+2T>G (n.2582+2T>G) n.333+2T>G c.2552+2T>G (n.2552+2T>G) c.1967+2T>G (n.1967+2T>G) c.2678+2T>G (n.2678+2T>G) c.1904+2T>G (n.1904+2T>G) c.1871+2T>G (n.1871+2T>G) n.2905+2T>G c.2084+2T>G (n.2084+2T>G) n.2899+2T>G | |
X | g.53248112A>G | CA413156721 | IQSEC2 | c.2741+2T>C (n.2741+2T>C) c.534+2T>C c.43+2T>C c.2582+2T>C (n.2582+2T>C) n.333+2T>C c.2552+2T>C (n.2552+2T>C) c.1967+2T>C (n.1967+2T>C) c.2678+2T>C (n.2678+2T>C) c.1904+2T>C (n.1904+2T>C) c.1871+2T>C (n.1871+2T>C) n.2905+2T>C c.2084+2T>C (n.2084+2T>C) n.2899+2T>C | ClinVar dbSNP |
X | g.53248112A>T | CA413156724 | IQSEC2 | c.2741+2T>A (n.2741+2T>A) c.534+2T>A c.43+2T>A c.2582+2T>A (n.2582+2T>A) n.333+2T>A c.2552+2T>A (n.2552+2T>A) c.1967+2T>A (n.1967+2T>A) c.2678+2T>A (n.2678+2T>A) c.1904+2T>A (n.1904+2T>A) c.1871+2T>A (n.1871+2T>A) n.2905+2T>A c.2084+2T>A (n.2084+2T>A) n.2899+2T>A | |
X | g.53248112_53248113delinsAC | CA2429774912 | IQSEC2 | c.2741+1_2741+2delinsGT (n.2741+1_2741+2delinsGT) c.534+1_534+2delinsGT c.43+1_43+2delinsGT c.2582+1_2582+2delinsGT (n.2582+1_2582+2delinsGT) n.333+1_333+2delinsGT c.2552+1_2552+2delinsGT (n.2552+1_2552+2delinsGT) c.1967+1_1967+2delinsGT (n.1967+1_1967+2delinsGT) c.2678+1_2678+2delinsGT (n.2678+1_2678+2delinsGT) c.1904+1_1904+2delinsGT (n.1904+1_1904+2delinsGT) c.1871+1_1871+2delinsGT (n.1871+1_1871+2delinsGT) n.2905+1_2905+2delinsGT c.2084+1_2084+2delinsGT (n.2084+1_2084+2delinsGT) n.2899+1_2899+2delinsGT | |
X | g.53248113C>A | CA413156731 | IQSEC2 | c.2741+1G>T (n.2741+1G>T) c.534+1G>T c.43+1G>T c.2582+1G>T (n.2582+1G>T) n.333+1G>T c.2552+1G>T (n.2552+1G>T) c.1967+1G>T (n.1967+1G>T) c.2678+1G>T (n.2678+1G>T) c.1904+1G>T (n.1904+1G>T) c.1871+1G>T (n.1871+1G>T) n.2905+1G>T c.2084+1G>T (n.2084+1G>T) n.2899+1G>T | |
X | g.53248113C>G | CA413156736 | IQSEC2 | c.2741+1G>C (n.2741+1G>C) c.534+1G>C c.43+1G>C c.2582+1G>C (n.2582+1G>C) n.333+1G>C c.2552+1G>C (n.2552+1G>C) c.1967+1G>C (n.1967+1G>C) c.2678+1G>C (n.2678+1G>C) c.1904+1G>C (n.1904+1G>C) c.1871+1G>C (n.1871+1G>C) n.2905+1G>C c.2084+1G>C (n.2084+1G>C) n.2899+1G>C | |
X | g.53248113C>T | CA413156738 | IQSEC2 | c.2741+1G>A (n.2741+1G>A) c.534+1G>A c.43+1G>A c.2582+1G>A (n.2582+1G>A) n.333+1G>A c.2552+1G>A (n.2552+1G>A) c.1967+1G>A (n.1967+1G>A) c.2678+1G>A (n.2678+1G>A) c.1904+1G>A (n.1904+1G>A) c.1871+1G>A (n.1871+1G>A) n.2905+1G>A c.2084+1G>A (n.2084+1G>A) n.2899+1G>A | |
X | g.53248114del | CA1139667566 | IQSEC2 | c.2741+1del c.534+1del c.43+1del c.2582+1del n.333+1del c.2552+1del c.1967+1del c.2678+1del c.1904+1del c.1871+1del n.2905+1del c.2084+1del n.2899+1del | ClinVar dbSNP |
X | g.53248114C>A | CA413156742 | IQSEC2 | c.2741G>T (p.Ser914Ile) c.534G>T c.43G>T c.2582G>T (p.Ser861Ile) n.333G>T c.2552G>T (p.Ser851Ile) c.1967G>T (p.Ser656Ile) c.2678G>T (p.Ser893Ile) c.1904G>T (p.Ser635Ile) c.1871G>T (p.Ser624Ile) n.2905G>T c.2084G>T (p.Ser695Ile) n.2899G>T | |
X | g.53248114C= | CA2429774913 | IQSEC2 | c.2741G= (p.Ser914=) c.534G= c.43G= c.2582G= (p.Ser861=) n.333G= c.2552G= (p.Ser851=) c.1967G= (p.Ser656=) c.2678G= (p.Ser893=) c.1904G= (p.Ser635=) c.1871G= (p.Ser624=) n.2905G= c.2084G= (p.Ser695=) n.2899G= | |
X | g.53248114C>G | CA204825 | IQSEC2 | c.2741G>C (p.Ser914Thr) c.534G>C c.43G>C c.2582G>C (p.Ser861Thr) n.333G>C c.2552G>C (p.Ser851Thr) c.1967G>C (p.Ser656Thr) c.2678G>C (p.Ser893Thr) c.1904G>C (p.Ser635Thr) c.1871G>C (p.Ser624Thr) n.2905G>C c.2084G>C (p.Ser695Thr) n.2899G>C | ClinVar dbSNP |
X | g.53248114C>T | CA413156747 | IQSEC2 | c.2741G>A (p.Ser914Asn) c.534G>A c.43G>A c.2582G>A (p.Ser861Asn) n.333G>A c.2552G>A (p.Ser851Asn) c.1967G>A (p.Ser656Asn) c.2678G>A (p.Ser893Asn) c.1904G>A (p.Ser635Asn) c.1871G>A (p.Ser624Asn) n.2905G>A c.2084G>A (p.Ser695Asn) n.2899G>A | |
X | g.53248115T>A | CA413156750 | IQSEC2 | c.2740A>T (p.Ser914Cys) c.533A>T c.42A>T c.2581A>T (p.Ser861Cys) n.332A>T c.2551A>T (p.Ser851Cys) c.1966A>T (p.Ser656Cys) c.2677A>T (p.Ser893Cys) c.1903A>T (p.Ser635Cys) c.1870A>T (p.Ser624Cys) n.2904A>T c.2083A>T (p.Ser695Cys) n.2898A>T | |
X | g.53248115T>C | CA413156752 | IQSEC2 | c.2740A>G (p.Ser914Gly) c.533A>G c.42A>G c.2581A>G (p.Ser861Gly) n.332A>G c.2551A>G (p.Ser851Gly) c.1966A>G (p.Ser656Gly) c.2677A>G (p.Ser893Gly) c.1903A>G (p.Ser635Gly) c.1870A>G (p.Ser624Gly) n.2904A>G c.2083A>G (p.Ser695Gly) n.2898A>G | |
X | g.53248115T>G | CA413156755 | IQSEC2 | c.2740A>C (p.Ser914Arg) c.533A>C c.42A>C c.2581A>C (p.Ser861Arg) n.332A>C c.2551A>C (p.Ser851Arg) c.1966A>C (p.Ser656Arg) c.2677A>C (p.Ser893Arg) c.1903A>C (p.Ser635Arg) c.1870A>C (p.Ser624Arg) n.2904A>C c.2083A>C (p.Ser695Arg) n.2898A>C | |
X | g.53248116G>A | CA516428069 | IQSEC2 | c.2739C>T (p.Phe913=) c.532C>T c.41C>T c.2580C>T (p.Phe860=) n.331C>T c.2550C>T (p.Phe850=) c.1965C>T (p.Phe655=) c.2676C>T (p.Phe892=) c.1902C>T (p.Phe634=) c.1869C>T (p.Phe623=) n.2903C>T c.2082C>T (p.Phe694=) n.2897C>T | |
X | g.53248116G>C | CA413156762 | IQSEC2 | c.2739C>G (p.Phe913Leu) c.532C>G c.41C>G c.2580C>G (p.Phe860Leu) n.331C>G c.2550C>G (p.Phe850Leu) c.1965C>G (p.Phe655Leu) c.2676C>G (p.Phe892Leu) c.1902C>G (p.Phe634Leu) c.1869C>G (p.Phe623Leu) n.2903C>G c.2082C>G (p.Phe694Leu) n.2897C>G | |
X | g.53248116G>T | CA413156759 | IQSEC2 | c.2739C>A (p.Phe913Leu) c.532C>A c.41C>A c.2580C>A (p.Phe860Leu) n.331C>A c.2550C>A (p.Phe850Leu) c.1965C>A (p.Phe655Leu) c.2676C>A (p.Phe892Leu) c.1902C>A (p.Phe634Leu) c.1869C>A (p.Phe623Leu) n.2903C>A c.2082C>A (p.Phe694Leu) n.2897C>A | |
X | g.53248117A>C | CA413156768 | IQSEC2 | c.2738T>G (p.Phe913Cys) c.531T>G c.40T>G c.2579T>G (p.Phe860Cys) n.330T>G c.2549T>G (p.Phe850Cys) c.1964T>G (p.Phe655Cys) c.2675T>G (p.Phe892Cys) c.1901T>G (p.Phe634Cys) c.1868T>G (p.Phe623Cys) n.2902T>G c.2081T>G (p.Phe694Cys) n.2896T>G | |
X | g.53248117A>G | CA413156772 | IQSEC2 | c.2738T>C (p.Phe913Ser) c.531T>C c.40T>C c.2579T>C (p.Phe860Ser) n.330T>C c.2549T>C (p.Phe850Ser) c.1964T>C (p.Phe655Ser) c.2675T>C (p.Phe892Ser) c.1901T>C (p.Phe634Ser) c.1868T>C (p.Phe623Ser) n.2902T>C c.2081T>C (p.Phe694Ser) n.2896T>C | |
X | g.53248117A>T | CA413156779 | IQSEC2 | c.2738T>A (p.Phe913Tyr) c.531T>A c.40T>A c.2579T>A (p.Phe860Tyr) n.330T>A c.2549T>A (p.Phe850Tyr) c.1964T>A (p.Phe655Tyr) c.2675T>A (p.Phe892Tyr) c.1901T>A (p.Phe634Tyr) c.1868T>A (p.Phe623Tyr) n.2902T>A c.2081T>A (p.Phe694Tyr) n.2896T>A | |
X | g.53248118A>C | CA413156781 | IQSEC2 | c.2737T>G (p.Phe913Val) c.530T>G c.39T>G c.2578T>G (p.Phe860Val) n.329T>G c.2548T>G (p.Phe850Val) c.1963T>G (p.Phe655Val) c.2674T>G (p.Phe892Val) c.1900T>G (p.Phe634Val) c.1867T>G (p.Phe623Val) n.2901T>G c.2080T>G (p.Phe694Val) n.2895T>G | |
X | g.53248118A>G | CA413156784 | IQSEC2 | c.2737T>C (p.Phe913Leu) c.530T>C c.39T>C c.2578T>C (p.Phe860Leu) n.329T>C c.2548T>C (p.Phe850Leu) c.1963T>C (p.Phe655Leu) c.2674T>C (p.Phe892Leu) c.1900T>C (p.Phe634Leu) c.1867T>C (p.Phe623Leu) n.2901T>C c.2080T>C (p.Phe694Leu) n.2895T>C | |
X | g.53248118A>T | CA413156787 | IQSEC2 | c.2737T>A (p.Phe913Ile) c.530T>A c.39T>A c.2578T>A (p.Phe860Ile) n.329T>A c.2548T>A (p.Phe850Ile) c.1963T>A (p.Phe655Ile) c.2674T>A (p.Phe892Ile) c.1900T>A (p.Phe634Ile) c.1867T>A (p.Phe623Ile) n.2901T>A c.2080T>A (p.Phe694Ile) n.2895T>A | |
X | g.53248119G>A | CA10419922 | IQSEC2 | c.2736C>T (p.Ala912=) c.529C>T c.38C>T c.2577C>T (p.Ala859=) n.328C>T c.2547C>T (p.Ala849=) c.1962C>T (p.Ala654=) c.2673C>T (p.Ala891=) c.1899C>T (p.Ala633=) c.1866C>T (p.Ala622=) n.2900C>T c.2079C>T (p.Ala693=) n.2894C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248119G>C | CA516428072 | IQSEC2 | c.2736C>G (p.Ala912=) c.529C>G c.38C>G c.2577C>G (p.Ala859=) n.328C>G c.2547C>G (p.Ala849=) c.1962C>G (p.Ala654=) c.2673C>G (p.Ala891=) c.1899C>G (p.Ala633=) c.1866C>G (p.Ala622=) n.2900C>G c.2079C>G (p.Ala693=) n.2894C>G | |
X | g.53248119G= | CA2429774914 | IQSEC2 | c.2736C= (p.Ala912=) c.529C= c.38C= c.2577C= (p.Ala859=) n.328C= c.2547C= (p.Ala849=) c.1962C= (p.Ala654=) c.2673C= (p.Ala891=) c.1899C= (p.Ala633=) c.1866C= (p.Ala622=) n.2900C= c.2079C= (p.Ala693=) n.2894C= | |
X | g.53248119G>T | CA516428070 | IQSEC2 | c.2736C>A (p.Ala912=) c.529C>A c.38C>A c.2577C>A (p.Ala859=) n.328C>A c.2547C>A (p.Ala849=) c.1962C>A (p.Ala654=) c.2673C>A (p.Ala891=) c.1899C>A (p.Ala633=) c.1866C>A (p.Ala622=) n.2900C>A c.2079C>A (p.Ala693=) n.2894C>A | |
X | g.53248120G>A | CA413156810 | IQSEC2 | c.2735C>T (p.Ala912Val) c.528C>T c.37C>T c.2576C>T (p.Ala859Val) n.327C>T c.2546C>T (p.Ala849Val) c.1961C>T (p.Ala654Val) c.2672C>T (p.Ala891Val) c.1898C>T (p.Ala633Val) c.1865C>T (p.Ala622Val) n.2899C>T c.2078C>T (p.Ala693Val) n.2893C>T | |
X | g.53248120G>C | CA413156806 | IQSEC2 | c.2735C>G (p.Ala912Gly) c.528C>G c.37C>G c.2576C>G (p.Ala859Gly) n.327C>G c.2546C>G (p.Ala849Gly) c.1961C>G (p.Ala654Gly) c.2672C>G (p.Ala891Gly) c.1898C>G (p.Ala633Gly) c.1865C>G (p.Ala622Gly) n.2899C>G c.2078C>G (p.Ala693Gly) n.2893C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.53248120G= | CA2429774915 | IQSEC2 | c.2735C= (p.Ala912=) c.528C= c.37C= c.2576C= (p.Ala859=) n.327C= c.2546C= (p.Ala849=) c.1961C= (p.Ala654=) c.2672C= (p.Ala891=) c.1898C= (p.Ala633=) c.1865C= (p.Ala622=) n.2899C= c.2078C= (p.Ala693=) n.2893C= | |
X | g.53248120G>T | CA413156808 | IQSEC2 | c.2735C>A (p.Ala912Asp) c.528C>A c.37C>A c.2576C>A (p.Ala859Asp) n.327C>A c.2546C>A (p.Ala849Asp) c.1961C>A (p.Ala654Asp) c.2672C>A (p.Ala891Asp) c.1898C>A (p.Ala633Asp) c.1865C>A (p.Ala622Asp) n.2899C>A c.2078C>A (p.Ala693Asp) n.2893C>A | ClinVar dbSNP |
X | g.53248121C>A | CA413156813 | IQSEC2 | c.2734G>T (p.Ala912Ser) c.527G>T c.36G>T c.2575G>T (p.Ala859Ser) n.326G>T c.2545G>T (p.Ala849Ser) c.1960G>T (p.Ala654Ser) c.2671G>T (p.Ala891Ser) c.1897G>T (p.Ala633Ser) c.1864G>T (p.Ala622Ser) n.2898G>T c.2077G>T (p.Ala693Ser) n.2892G>T | |
X | g.53248121C>G | CA413156816 | IQSEC2 | c.2734G>C (p.Ala912Pro) c.527G>C c.36G>C c.2575G>C (p.Ala859Pro) n.326G>C c.2545G>C (p.Ala849Pro) c.1960G>C (p.Ala654Pro) c.2671G>C (p.Ala891Pro) c.1897G>C (p.Ala633Pro) c.1864G>C (p.Ala622Pro) n.2898G>C c.2077G>C (p.Ala693Pro) n.2892G>C | |
X | g.53248121C>T | CA413156818 | IQSEC2 | c.2734G>A (p.Ala912Thr) c.527G>A c.36G>A c.2575G>A (p.Ala859Thr) n.326G>A c.2545G>A (p.Ala849Thr) c.1960G>A (p.Ala654Thr) c.2671G>A (p.Ala891Thr) c.1897G>A (p.Ala633Thr) c.1864G>A (p.Ala622Thr) n.2898G>A c.2077G>A (p.Ala693Thr) n.2892G>A | |
X | g.53248122_53248136del | CA2695233924 | IQSEC2 | c.2720_2734del (p.Glu907_Glu911del) c.513_527del c.22_36del c.2561_2575del (p.Glu854_Glu858del) n.312_326del c.2531_2545del (p.Glu844_Glu848del) c.1946_1960del (p.Glu649_Glu653del) c.2657_2671del (p.Glu886_Glu890del) c.1883_1897del (p.Glu628_Glu632del) c.1850_1864del (p.Glu617_Glu621del) n.2884_2898del c.2063_2077del (p.Glu688_Glu692del) n.2878_2892del | |
X | g.53248122T>A | CA413156820 | IQSEC2 | c.2733A>T (p.Glu911Asp) c.526A>T c.35A>T c.2574A>T (p.Glu858Asp) n.325A>T c.2544A>T (p.Glu848Asp) c.1959A>T (p.Glu653Asp) c.2670A>T (p.Glu890Asp) c.1896A>T (p.Glu632Asp) c.1863A>T (p.Glu621Asp) n.2897A>T c.2076A>T (p.Glu692Asp) n.2891A>T | |
X | g.53248122T>C | CA516428073 | IQSEC2 | c.2733A>G (p.Glu911=) c.526A>G c.35A>G c.2574A>G (p.Glu858=) n.325A>G c.2544A>G (p.Glu848=) c.1959A>G (p.Glu653=) c.2670A>G (p.Glu890=) c.1896A>G (p.Glu632=) c.1863A>G (p.Glu621=) n.2897A>G c.2076A>G (p.Glu692=) n.2891A>G | |
X | g.53248122T>G | CA413156821 | IQSEC2 | c.2733A>C (p.Glu911Asp) c.526A>C c.35A>C c.2574A>C (p.Glu858Asp) n.325A>C c.2544A>C (p.Glu848Asp) c.1959A>C (p.Glu653Asp) c.2670A>C (p.Glu890Asp) c.1896A>C (p.Glu632Asp) c.1863A>C (p.Glu621Asp) n.2897A>C c.2076A>C (p.Glu692Asp) n.2891A>C | |
X | g.53248123T>A | CA413156824 | IQSEC2 | c.2732A>T (p.Glu911Val) c.525A>T c.34A>T c.2573A>T (p.Glu858Val) n.324A>T c.2543A>T (p.Glu848Val) c.1958A>T (p.Glu653Val) c.2669A>T (p.Glu890Val) c.1895A>T (p.Glu632Val) c.1862A>T (p.Glu621Val) n.2896A>T c.2075A>T (p.Glu692Val) n.2890A>T | |
X | g.53248123T>C | CA413156828 | IQSEC2 | c.2732A>G (p.Glu911Gly) c.525A>G c.34A>G c.2573A>G (p.Glu858Gly) n.324A>G c.2543A>G (p.Glu848Gly) c.1958A>G (p.Glu653Gly) c.2669A>G (p.Glu890Gly) c.1895A>G (p.Glu632Gly) c.1862A>G (p.Glu621Gly) n.2896A>G c.2075A>G (p.Glu692Gly) n.2890A>G | |
X | g.53248123T>G | CA413156827 | IQSEC2 | c.2732A>C (p.Glu911Ala) c.525A>C c.34A>C c.2573A>C (p.Glu858Ala) n.324A>C c.2543A>C (p.Glu848Ala) c.1958A>C (p.Glu653Ala) c.2669A>C (p.Glu890Ala) c.1895A>C (p.Glu632Ala) c.1862A>C (p.Glu621Ala) n.2896A>C c.2075A>C (p.Glu692Ala) n.2890A>C | |
X | g.53248124C>A | CA413156831 | IQSEC2 | c.2731G>T (p.Glu911Ter) c.524G>T c.33G>T c.2572G>T (p.Glu858Ter) n.323G>T c.2542G>T (p.Glu848Ter) c.1957G>T (p.Glu653Ter) c.2668G>T (p.Glu890Ter) c.1894G>T (p.Glu632Ter) c.1861G>T (p.Glu621Ter) n.2895G>T c.2074G>T (p.Glu692Ter) n.2889G>T | |
X | g.53248124C= | CA2429774916 | IQSEC2 | c.2731G= (p.Glu911=) c.524G= c.33G= c.2572G= (p.Glu858=) n.323G= c.2542G= (p.Glu848=) c.1957G= (p.Glu653=) c.2668G= (p.Glu890=) c.1894G= (p.Glu632=) c.1861G= (p.Glu621=) n.2895G= c.2074G= (p.Glu692=) n.2889G= | |
X | g.53248124C>G | CA413156832 | IQSEC2 | c.2731G>C (p.Glu911Gln) c.524G>C c.33G>C c.2572G>C (p.Glu858Gln) n.323G>C c.2542G>C (p.Glu848Gln) c.1957G>C (p.Glu653Gln) c.2668G>C (p.Glu890Gln) c.1894G>C (p.Glu632Gln) c.1861G>C (p.Glu621Gln) n.2895G>C c.2074G>C (p.Glu692Gln) n.2889G>C | |
X | g.53248124C>T | CA413156834 | IQSEC2 | c.2731G>A (p.Glu911Lys) c.524G>A c.33G>A c.2572G>A (p.Glu858Lys) n.323G>A c.2542G>A (p.Glu848Lys) c.1957G>A (p.Glu653Lys) c.2668G>A (p.Glu890Lys) c.1894G>A (p.Glu632Lys) c.1861G>A (p.Glu621Lys) n.2895G>A c.2074G>A (p.Glu692Lys) n.2889G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53248125G>A | CA10419924 | IQSEC2 | c.2730C>T (p.Ile910=) c.523C>T c.32C>T c.2571C>T (p.Ile857=) n.322C>T c.2541C>T (p.Ile847=) c.1956C>T (p.Ile652=) c.2667C>T (p.Ile889=) c.1893C>T (p.Ile631=) c.1860C>T (p.Ile620=) n.2894C>T c.2073C>T (p.Ile691=) n.2888C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248125G>C | CA413156839 | IQSEC2 | c.2730C>G (p.Ile910Met) c.523C>G c.32C>G c.2571C>G (p.Ile857Met) n.322C>G c.2541C>G (p.Ile847Met) c.1956C>G (p.Ile652Met) c.2667C>G (p.Ile889Met) c.1893C>G (p.Ile631Met) c.1860C>G (p.Ile620Met) n.2894C>G c.2073C>G (p.Ile691Met) n.2888C>G | |
X | g.53248125G= | CA2429774917 | IQSEC2 | c.2730C= (p.Ile910=) c.523C= c.32C= c.2571C= (p.Ile857=) n.322C= c.2541C= (p.Ile847=) c.1956C= (p.Ile652=) c.2667C= (p.Ile889=) c.1893C= (p.Ile631=) c.1860C= (p.Ile620=) n.2894C= c.2073C= (p.Ile691=) n.2888C= | |
X | g.53248125G>T | CA10419923 | IQSEC2 | c.2730C>A (p.Ile910=) c.523C>A c.32C>A c.2571C>A (p.Ile857=) n.322C>A c.2541C>A (p.Ile847=) c.1956C>A (p.Ile652=) c.2667C>A (p.Ile889=) c.1893C>A (p.Ile631=) c.1860C>A (p.Ile620=) n.2894C>A c.2073C>A (p.Ile691=) n.2888C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248126A>C | CA413156842 | IQSEC2 | c.2729T>G (p.Ile910Ser) c.522T>G c.31T>G c.2570T>G (p.Ile857Ser) n.321T>G c.2540T>G (p.Ile847Ser) c.1955T>G (p.Ile652Ser) c.2666T>G (p.Ile889Ser) c.1892T>G (p.Ile631Ser) c.1859T>G (p.Ile620Ser) n.2893T>G c.2072T>G (p.Ile691Ser) n.2887T>G | |
X | g.53248126A>G | CA413156845 | IQSEC2 | c.2729T>C (p.Ile910Thr) c.522T>C c.31T>C c.2570T>C (p.Ile857Thr) n.321T>C c.2540T>C (p.Ile847Thr) c.1955T>C (p.Ile652Thr) c.2666T>C (p.Ile889Thr) c.1892T>C (p.Ile631Thr) c.1859T>C (p.Ile620Thr) n.2893T>C c.2072T>C (p.Ile691Thr) n.2887T>C | |
X | g.53248126A>T | CA413156847 | IQSEC2 | c.2729T>A (p.Ile910Asn) c.522T>A c.31T>A c.2570T>A (p.Ile857Asn) n.321T>A c.2540T>A (p.Ile847Asn) c.1955T>A (p.Ile652Asn) c.2666T>A (p.Ile889Asn) c.1892T>A (p.Ile631Asn) c.1859T>A (p.Ile620Asn) n.2893T>A c.2072T>A (p.Ile691Asn) n.2887T>A | |
X | g.53248127T>A | CA413156850 | IQSEC2 | c.2728A>T (p.Ile910Phe) c.521A>T c.30A>T c.2569A>T (p.Ile857Phe) n.320A>T c.2539A>T (p.Ile847Phe) c.1954A>T (p.Ile652Phe) c.2665A>T (p.Ile889Phe) c.1891A>T (p.Ile631Phe) c.1858A>T (p.Ile620Phe) n.2892A>T c.2071A>T (p.Ile691Phe) n.2886A>T | |
X | g.53248127T>C | CA413156851 | IQSEC2 | c.2728A>G (p.Ile910Val) c.521A>G c.30A>G c.2569A>G (p.Ile857Val) n.320A>G c.2539A>G (p.Ile847Val) c.1954A>G (p.Ile652Val) c.2665A>G (p.Ile889Val) c.1891A>G (p.Ile631Val) c.1858A>G (p.Ile620Val) n.2892A>G c.2071A>G (p.Ile691Val) n.2886A>G | |
X | g.53248127T>G | CA413156853 | IQSEC2 | c.2728A>C (p.Ile910Leu) c.521A>C c.30A>C c.2569A>C (p.Ile857Leu) n.320A>C c.2539A>C (p.Ile847Leu) c.1954A>C (p.Ile652Leu) c.2665A>C (p.Ile889Leu) c.1891A>C (p.Ile631Leu) c.1858A>C (p.Ile620Leu) n.2892A>C c.2071A>C (p.Ile691Leu) n.2886A>C | |
X | g.53248128G>A | CA516428080 | IQSEC2 | c.2727C>T (p.Leu909=) c.520C>T c.29C>T c.2568C>T (p.Leu856=) n.319C>T c.2538C>T (p.Leu846=) c.1953C>T (p.Leu651=) c.2664C>T (p.Leu888=) c.1890C>T (p.Leu630=) c.1857C>T (p.Leu619=) n.2891C>T c.2070C>T (p.Leu690=) n.2885C>T | |
X | g.53248128G>C | CA516428078 | IQSEC2 | c.2727C>G (p.Leu909=) c.520C>G c.29C>G c.2568C>G (p.Leu856=) n.319C>G c.2538C>G (p.Leu846=) c.1953C>G (p.Leu651=) c.2664C>G (p.Leu888=) c.1890C>G (p.Leu630=) c.1857C>G (p.Leu619=) n.2891C>G c.2070C>G (p.Leu690=) n.2885C>G | |
X | g.53248128G>T | CA516428079 | IQSEC2 | c.2727C>A (p.Leu909=) c.520C>A c.29C>A c.2568C>A (p.Leu856=) n.319C>A c.2538C>A (p.Leu846=) c.1953C>A (p.Leu651=) c.2664C>A (p.Leu888=) c.1890C>A (p.Leu630=) c.1857C>A (p.Leu619=) n.2891C>A c.2070C>A (p.Leu690=) n.2885C>A | |
X | g.53248129A>C | CA413156858 | IQSEC2 | c.2726T>G (p.Leu909Arg) c.519T>G c.28T>G c.2567T>G (p.Leu856Arg) n.318T>G c.2537T>G (p.Leu846Arg) c.1952T>G (p.Leu651Arg) c.2663T>G (p.Leu888Arg) c.1889T>G (p.Leu630Arg) c.1856T>G (p.Leu619Arg) n.2890T>G c.2069T>G (p.Leu690Arg) n.2884T>G | |
X | g.53248129A>G | CA413156863 | IQSEC2 | c.2726T>C (p.Leu909Pro) c.519T>C c.28T>C c.2567T>C (p.Leu856Pro) n.318T>C c.2537T>C (p.Leu846Pro) c.1952T>C (p.Leu651Pro) c.2663T>C (p.Leu888Pro) c.1889T>C (p.Leu630Pro) c.1856T>C (p.Leu619Pro) n.2890T>C c.2069T>C (p.Leu690Pro) n.2884T>C | |
X | g.53248129A>T | CA413156860 | IQSEC2 | c.2726T>A (p.Leu909His) c.519T>A c.28T>A c.2567T>A (p.Leu856His) n.318T>A c.2537T>A (p.Leu846His) c.1952T>A (p.Leu651His) c.2663T>A (p.Leu888His) c.1889T>A (p.Leu630His) c.1856T>A (p.Leu619His) n.2890T>A c.2069T>A (p.Leu690His) n.2884T>A | |
X | g.53248130G>A | CA413156866 | IQSEC2 | c.2725C>T (p.Leu909Phe) c.518C>T c.27C>T c.2566C>T (p.Leu856Phe) n.317C>T c.2536C>T (p.Leu846Phe) c.1951C>T (p.Leu651Phe) c.2662C>T (p.Leu888Phe) c.1888C>T (p.Leu630Phe) c.1855C>T (p.Leu619Phe) n.2889C>T c.2068C>T (p.Leu690Phe) n.2883C>T | |
X | g.53248130G>C | CA413156870 | IQSEC2 | c.2725C>G (p.Leu909Val) c.518C>G c.27C>G c.2566C>G (p.Leu856Val) n.317C>G c.2536C>G (p.Leu846Val) c.1951C>G (p.Leu651Val) c.2662C>G (p.Leu888Val) c.1888C>G (p.Leu630Val) c.1855C>G (p.Leu619Val) n.2889C>G c.2068C>G (p.Leu690Val) n.2883C>G | |
X | g.53248130G>T | CA413156868 | IQSEC2 | c.2725C>A (p.Leu909Ile) c.518C>A c.27C>A c.2566C>A (p.Leu856Ile) n.317C>A c.2536C>A (p.Leu846Ile) c.1951C>A (p.Leu651Ile) c.2662C>A (p.Leu888Ile) c.1888C>A (p.Leu630Ile) c.1855C>A (p.Leu619Ile) n.2889C>A c.2068C>A (p.Leu690Ile) n.2883C>A | COSMIC COSMIC COSMIC |
X | g.53248131T>A | CA516428084 | IQSEC2 | c.2724A>T (p.Arg908=) c.517A>T c.26A>T c.2565A>T (p.Arg855=) n.316A>T c.2535A>T (p.Arg845=) c.1950A>T (p.Arg650=) c.2661A>T (p.Arg887=) c.1887A>T (p.Arg629=) c.1854A>T (p.Arg618=) n.2888A>T c.2067A>T (p.Arg689=) n.2882A>T | |
X | g.53248131T>C | CA516428085 | IQSEC2 | c.2724A>G (p.Arg908=) c.517A>G c.26A>G c.2565A>G (p.Arg855=) n.316A>G c.2535A>G (p.Arg845=) c.1950A>G (p.Arg650=) c.2661A>G (p.Arg887=) c.1887A>G (p.Arg629=) c.1854A>G (p.Arg618=) n.2888A>G c.2067A>G (p.Arg689=) n.2882A>G | |
X | g.53248131T>G | CA516428086 | IQSEC2 | c.2724A>C (p.Arg908=) c.517A>C c.26A>C c.2565A>C (p.Arg855=) n.316A>C c.2535A>C (p.Arg845=) c.1950A>C (p.Arg650=) c.2661A>C (p.Arg887=) c.1887A>C (p.Arg629=) c.1854A>C (p.Arg618=) n.2888A>C c.2067A>C (p.Arg689=) n.2882A>C | dbSNP gnomAD v4 |
X | g.53248131T= | CA2429774918 | IQSEC2 | c.2724A= (p.Arg908=) c.517A= c.26A= c.2565A= (p.Arg855=) n.316A= c.2535A= (p.Arg845=) c.1950A= (p.Arg650=) c.2661A= (p.Arg887=) c.1887A= (p.Arg629=) c.1854A= (p.Arg618=) n.2888A= c.2067A= (p.Arg689=) n.2882A= | |
X | g.53248132C>A | CA413156872 | IQSEC2 | c.2723G>T (p.Arg908Leu) c.516G>T c.25G>T c.2564G>T (p.Arg855Leu) n.315G>T c.2534G>T (p.Arg845Leu) c.1949G>T (p.Arg650Leu) c.2660G>T (p.Arg887Leu) c.1886G>T (p.Arg629Leu) c.1853G>T (p.Arg618Leu) n.2887G>T c.2066G>T (p.Arg689Leu) n.2881G>T | |
X | g.53248132C= | CA2429774919 | IQSEC2 | c.2723G= (p.Arg908=) c.516G= c.25G= c.2564G= (p.Arg855=) n.315G= c.2534G= (p.Arg845=) c.1949G= (p.Arg650=) c.2660G= (p.Arg887=) c.1886G= (p.Arg629=) c.1853G= (p.Arg618=) n.2887G= c.2066G= (p.Arg689=) n.2881G= | |
X | g.53248132C>G | CA413156873 | IQSEC2 | c.2723G>C (p.Arg908Pro) c.516G>C c.25G>C c.2564G>C (p.Arg855Pro) n.315G>C c.2534G>C (p.Arg845Pro) c.1949G>C (p.Arg650Pro) c.2660G>C (p.Arg887Pro) c.1886G>C (p.Arg629Pro) c.1853G>C (p.Arg618Pro) n.2887G>C c.2066G>C (p.Arg689Pro) n.2881G>C | |
X | g.53248132C>T | CA413156875 | IQSEC2 | c.2723G>A (p.Arg908Gln) c.516G>A c.25G>A c.2564G>A (p.Arg855Gln) n.315G>A c.2534G>A (p.Arg845Gln) c.1949G>A (p.Arg650Gln) c.2660G>A (p.Arg887Gln) c.1886G>A (p.Arg629Gln) c.1853G>A (p.Arg618Gln) n.2887G>A c.2066G>A (p.Arg689Gln) n.2881G>A | dbSNP gnomAD v4 |
X | g.53248133G>A | CA286512 | IQSEC2 | c.2722C>T (p.Arg908Ter) c.515C>T c.24C>T c.2563C>T (p.Arg855Ter) n.314C>T c.2533C>T (p.Arg845Ter) c.1948C>T (p.Arg650Ter) c.2659C>T (p.Arg887Ter) c.1885C>T (p.Arg629Ter) c.1852C>T (p.Arg618Ter) n.2886C>T c.2065C>T (p.Arg689Ter) n.2880C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53248133G>C | CA413156878 | IQSEC2 | c.2722C>G (p.Arg908Gly) c.515C>G c.24C>G c.2563C>G (p.Arg855Gly) n.314C>G c.2533C>G (p.Arg845Gly) c.1948C>G (p.Arg650Gly) c.2659C>G (p.Arg887Gly) c.1885C>G (p.Arg629Gly) c.1852C>G (p.Arg618Gly) n.2886C>G c.2065C>G (p.Arg689Gly) n.2880C>G | |
X | g.53248133G= | CA2429774920 | IQSEC2 | c.2722C= (p.Arg908=) c.515C= c.24C= c.2563C= (p.Arg855=) n.314C= c.2533C= (p.Arg845=) c.1948C= (p.Arg650=) c.2659C= (p.Arg887=) c.1885C= (p.Arg629=) c.1852C= (p.Arg618=) n.2886C= c.2065C= (p.Arg689=) n.2880C= | |
X | g.53248133G>T | CA516428089 | IQSEC2 | c.2722C>A (p.Arg908=) c.515C>A c.24C>A c.2563C>A (p.Arg855=) n.314C>A c.2533C>A (p.Arg845=) c.1948C>A (p.Arg650=) c.2659C>A (p.Arg887=) c.1885C>A (p.Arg629=) c.1852C>A (p.Arg618=) n.2886C>A c.2065C>A (p.Arg689=) n.2880C>A | |
X | g.53248134C>A | CA413156879 | IQSEC2 | c.2721G>T (p.Glu907Asp) c.514G>T c.23G>T c.2562G>T (p.Glu854Asp) n.313G>T c.2532G>T (p.Glu844Asp) c.1947G>T (p.Glu649Asp) c.2658G>T (p.Glu886Asp) c.1884G>T (p.Glu628Asp) c.1851G>T (p.Glu617Asp) n.2885G>T c.2064G>T (p.Glu688Asp) n.2879G>T | |
X | g.53248134C= | CA2429774921 | IQSEC2 | c.2721G= (p.Glu907=) c.514G= c.23G= c.2562G= (p.Glu854=) n.313G= c.2532G= (p.Glu844=) c.1947G= (p.Glu649=) c.2658G= (p.Glu886=) c.1884G= (p.Glu628=) c.1851G= (p.Glu617=) n.2885G= c.2064G= (p.Glu688=) n.2879G= | |
X | g.53248134C>G | CA413156883 | IQSEC2 | c.2721G>C (p.Glu907Asp) c.514G>C c.23G>C c.2562G>C (p.Glu854Asp) n.313G>C c.2532G>C (p.Glu844Asp) c.1947G>C (p.Glu649Asp) c.2658G>C (p.Glu886Asp) c.1884G>C (p.Glu628Asp) c.1851G>C (p.Glu617Asp) n.2885G>C c.2064G>C (p.Glu688Asp) n.2879G>C | |
X | g.53248134C>T | CA10419925 | IQSEC2 | c.2721G>A (p.Glu907=) c.514G>A c.23G>A c.2562G>A (p.Glu854=) n.313G>A c.2532G>A (p.Glu844=) c.1947G>A (p.Glu649=) c.2658G>A (p.Glu886=) c.1884G>A (p.Glu628=) c.1851G>A (p.Glu617=) n.2885G>A c.2064G>A (p.Glu688=) n.2879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248135T>A | CA413156887 | IQSEC2 | c.2720A>T (p.Glu907Val) c.513A>T c.22A>T c.2561A>T (p.Glu854Val) n.312A>T c.2531A>T (p.Glu844Val) c.1946A>T (p.Glu649Val) c.2657A>T (p.Glu886Val) c.1883A>T (p.Glu628Val) c.1850A>T (p.Glu617Val) n.2884A>T c.2063A>T (p.Glu688Val) n.2878A>T | |
X | g.53248135T>C | CA413156889 | IQSEC2 | c.2720A>G (p.Glu907Gly) c.513A>G c.22A>G c.2561A>G (p.Glu854Gly) n.312A>G c.2531A>G (p.Glu844Gly) c.1946A>G (p.Glu649Gly) c.2657A>G (p.Glu886Gly) c.1883A>G (p.Glu628Gly) c.1850A>G (p.Glu617Gly) n.2884A>G c.2063A>G (p.Glu688Gly) n.2878A>G | |
X | g.53248135T>G | CA413156891 | IQSEC2 | c.2720A>C (p.Glu907Ala) c.513A>C c.22A>C c.2561A>C (p.Glu854Ala) n.312A>C c.2531A>C (p.Glu844Ala) c.1946A>C (p.Glu649Ala) c.2657A>C (p.Glu886Ala) c.1883A>C (p.Glu628Ala) c.1850A>C (p.Glu617Ala) n.2884A>C c.2063A>C (p.Glu688Ala) n.2878A>C | |
X | g.53248136C>A | CA413156897 | IQSEC2 | c.2719G>T (p.Glu907Ter) c.512G>T c.21G>T c.2560G>T (p.Glu854Ter) n.311G>T c.2530G>T (p.Glu844Ter) c.1945G>T (p.Glu649Ter) c.2656G>T (p.Glu886Ter) c.1882G>T (p.Glu628Ter) c.1849G>T (p.Glu617Ter) n.2883G>T c.2062G>T (p.Glu688Ter) n.2877G>T | |
X | g.53248136C>G | CA413156895 | IQSEC2 | c.2719G>C (p.Glu907Gln) c.512G>C c.21G>C c.2560G>C (p.Glu854Gln) n.311G>C c.2530G>C (p.Glu844Gln) c.1945G>C (p.Glu649Gln) c.2656G>C (p.Glu886Gln) c.1882G>C (p.Glu628Gln) c.1849G>C (p.Glu617Gln) n.2883G>C c.2062G>C (p.Glu688Gln) n.2877G>C | |
X | g.53248136C>T | CA413156893 | IQSEC2 | c.2719G>A (p.Glu907Lys) c.512G>A c.21G>A c.2560G>A (p.Glu854Lys) n.311G>A c.2530G>A (p.Glu844Lys) c.1945G>A (p.Glu649Lys) c.2656G>A (p.Glu886Lys) c.1882G>A (p.Glu628Lys) c.1849G>A (p.Glu617Lys) n.2883G>A c.2062G>A (p.Glu688Lys) n.2877G>A | |
X | g.53248137C>A | CA516428095 | IQSEC2 | c.2718G>T (p.Val906=) c.511G>T c.20G>T c.2559G>T (p.Val853=) n.310G>T c.2529G>T (p.Val843=) c.1944G>T (p.Val648=) c.2655G>T (p.Val885=) c.1881G>T (p.Val627=) c.1848G>T (p.Val616=) n.2882G>T c.2061G>T (p.Val687=) n.2876G>T | |
X | g.53248137C>G | CA516428096 | IQSEC2 | c.2718G>C (p.Val906=) c.511G>C c.20G>C c.2559G>C (p.Val853=) n.310G>C c.2529G>C (p.Val843=) c.1944G>C (p.Val648=) c.2655G>C (p.Val885=) c.1881G>C (p.Val627=) c.1848G>C (p.Val616=) n.2882G>C c.2061G>C (p.Val687=) n.2876G>C | |
X | g.53248137C>T | CA516428097 | IQSEC2 | c.2718G>A (p.Val906=) c.511G>A c.20G>A c.2559G>A (p.Val853=) n.310G>A c.2529G>A (p.Val843=) c.1944G>A (p.Val648=) c.2655G>A (p.Val885=) c.1881G>A (p.Val627=) c.1848G>A (p.Val616=) n.2882G>A c.2061G>A (p.Val687=) n.2876G>A | |
X | g.53248138A>C | CA413156900 | IQSEC2 | c.2717T>G (p.Val906Gly) c.510T>G c.19T>G c.2558T>G (p.Val853Gly) n.309T>G c.2528T>G (p.Val843Gly) c.1943T>G (p.Val648Gly) c.2654T>G (p.Val885Gly) c.1880T>G (p.Val627Gly) c.1847T>G (p.Val616Gly) n.2881T>G c.2060T>G (p.Val687Gly) n.2875T>G | |
X | g.53248138A>G | CA413156902 | IQSEC2 | c.2717T>C (p.Val906Ala) c.510T>C c.19T>C c.2558T>C (p.Val853Ala) n.309T>C c.2528T>C (p.Val843Ala) c.1943T>C (p.Val648Ala) c.2654T>C (p.Val885Ala) c.1880T>C (p.Val627Ala) c.1847T>C (p.Val616Ala) n.2881T>C c.2060T>C (p.Val687Ala) n.2875T>C | |
X | g.53248138A>T | CA413156903 | IQSEC2 | c.2717T>A (p.Val906Glu) c.510T>A c.19T>A c.2558T>A (p.Val853Glu) n.309T>A c.2528T>A (p.Val843Glu) c.1943T>A (p.Val648Glu) c.2654T>A (p.Val885Glu) c.1880T>A (p.Val627Glu) c.1847T>A (p.Val616Glu) n.2881T>A c.2060T>A (p.Val687Glu) n.2875T>A | |
X | g.53248139C>A | CA413156905 | IQSEC2 | c.2716G>T (p.Val906Leu) c.509G>T c.18G>T c.2557G>T (p.Val853Leu) n.308G>T c.2527G>T (p.Val843Leu) c.1942G>T (p.Val648Leu) c.2653G>T (p.Val885Leu) c.1879G>T (p.Val627Leu) c.1846G>T (p.Val616Leu) n.2880G>T c.2059G>T (p.Val687Leu) n.2874G>T | |
X | g.53248139C>G | CA413156907 | IQSEC2 | c.2716G>C (p.Val906Leu) c.509G>C c.18G>C c.2557G>C (p.Val853Leu) n.308G>C c.2527G>C (p.Val843Leu) c.1942G>C (p.Val648Leu) c.2653G>C (p.Val885Leu) c.1879G>C (p.Val627Leu) c.1846G>C (p.Val616Leu) n.2880G>C c.2059G>C (p.Val687Leu) n.2874G>C | |
X | g.53248139C>T | CA413156908 | IQSEC2 | c.2716G>A (p.Val906Met) c.509G>A c.18G>A c.2557G>A (p.Val853Met) n.308G>A c.2527G>A (p.Val843Met) c.1942G>A (p.Val648Met) c.2653G>A (p.Val885Met) c.1879G>A (p.Val627Met) c.1846G>A (p.Val616Met) n.2880G>A c.2059G>A (p.Val687Met) n.2874G>A | |
X | g.53248139_53248140insG | CA2499499904 | IQSEC2 | c.2715_2716insC (p.Val906ArgfsTer16) c.508_509insC c.17_18insC c.2556_2557insC (p.Val853ArgfsTer16) n.307_308insC c.2526_2527insC (p.Val843ArgfsTer16) c.1941_1942insC (p.Val648ArgfsTer16) c.2652_2653insC (p.Val885ArgfsTer16) c.1878_1879insC (p.Val627ArgfsTer16) c.1845_1846insC (p.Val616ArgfsTer16) n.2879_2880insC c.2058_2059insC (p.Val687ArgfsTer16) n.2873_2874insC | |
X | g.53248140T>A | CA413156910 | IQSEC2 | c.2715A>T (p.Lys905Asn) c.508A>T c.17A>T c.2556A>T (p.Lys852Asn) n.307A>T c.2526A>T (p.Lys842Asn) c.1941A>T (p.Lys647Asn) c.2652A>T (p.Lys884Asn) c.1878A>T (p.Lys626Asn) c.1845A>T (p.Lys615Asn) n.2879A>T c.2058A>T (p.Lys686Asn) n.2873A>T | |
X | g.53248140T>C | CA516428104 | IQSEC2 | c.2715A>G (p.Lys905=) c.508A>G c.17A>G c.2556A>G (p.Lys852=) n.307A>G c.2526A>G (p.Lys842=) c.1941A>G (p.Lys647=) c.2652A>G (p.Lys884=) c.1878A>G (p.Lys626=) c.1845A>G (p.Lys615=) n.2879A>G c.2058A>G (p.Lys686=) n.2873A>G | |
X | g.53248140T>G | CA413156911 | IQSEC2 | c.2715A>C (p.Lys905Asn) c.508A>C c.17A>C c.2556A>C (p.Lys852Asn) n.307A>C c.2526A>C (p.Lys842Asn) c.1941A>C (p.Lys647Asn) c.2652A>C (p.Lys884Asn) c.1878A>C (p.Lys626Asn) c.1845A>C (p.Lys615Asn) n.2879A>C c.2058A>C (p.Lys686Asn) n.2873A>C | |
X | g.53248141T>A | CA413156913 | IQSEC2 | c.2714A>T (p.Lys905Ile) c.507A>T c.16A>T c.2555A>T (p.Lys852Ile) n.306A>T c.2525A>T (p.Lys842Ile) c.1940A>T (p.Lys647Ile) c.2651A>T (p.Lys884Ile) c.1877A>T (p.Lys626Ile) c.1844A>T (p.Lys615Ile) n.2878A>T c.2057A>T (p.Lys686Ile) n.2872A>T | |
X | g.53248141T>C | CA413156915 | IQSEC2 | c.2714A>G (p.Lys905Arg) c.507A>G c.16A>G c.2555A>G (p.Lys852Arg) n.306A>G c.2525A>G (p.Lys842Arg) c.1940A>G (p.Lys647Arg) c.2651A>G (p.Lys884Arg) c.1877A>G (p.Lys626Arg) c.1844A>G (p.Lys615Arg) n.2878A>G c.2057A>G (p.Lys686Arg) n.2872A>G | |
X | g.53248141T>G | CA413156917 | IQSEC2 | c.2714A>C (p.Lys905Thr) c.507A>C c.16A>C c.2555A>C (p.Lys852Thr) n.306A>C c.2525A>C (p.Lys842Thr) c.1940A>C (p.Lys647Thr) c.2651A>C (p.Lys884Thr) c.1877A>C (p.Lys626Thr) c.1844A>C (p.Lys615Thr) n.2878A>C c.2057A>C (p.Lys686Thr) n.2872A>C | |
X | g.53248141_53248142insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG | CA2522511244 | IQSEC2 | c.2713_2714insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys905ThrfsTer7) c.506_507insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT c.15_16insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys852ThrfsTer7) n.305_306insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT c.2524_2525insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys842ThrfsTer7) c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys647ThrfsTer7) c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys884ThrfsTer7) c.1876_1877insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys626ThrfsTer7) c.1843_1844insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys615ThrfsTer7) n.2877_2878insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT c.2056_2057insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT (p.Lys686ThrfsTer7) n.2871_2872insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT | |
X | g.53248142T>A | CA413156922 | IQSEC2 | c.2713A>T (p.Lys905Ter) c.506A>T c.15A>T c.2554A>T (p.Lys852Ter) n.305A>T c.2524A>T (p.Lys842Ter) c.1939A>T (p.Lys647Ter) c.2650A>T (p.Lys884Ter) c.1876A>T (p.Lys626Ter) c.1843A>T (p.Lys615Ter) n.2877A>T c.2056A>T (p.Lys686Ter) n.2871A>T | |
X | g.53248142T>C | CA413156920 | IQSEC2 | c.2713A>G (p.Lys905Glu) c.506A>G c.15A>G c.2554A>G (p.Lys852Glu) n.305A>G c.2524A>G (p.Lys842Glu) c.1939A>G (p.Lys647Glu) c.2650A>G (p.Lys884Glu) c.1876A>G (p.Lys626Glu) c.1843A>G (p.Lys615Glu) n.2877A>G c.2056A>G (p.Lys686Glu) n.2871A>G | |
X | g.53248142T>G | CA413156918 | IQSEC2 | c.2713A>C (p.Lys905Gln) c.506A>C c.15A>C c.2554A>C (p.Lys852Gln) n.305A>C c.2524A>C (p.Lys842Gln) c.1939A>C (p.Lys647Gln) c.2650A>C (p.Lys884Gln) c.1876A>C (p.Lys626Gln) c.1843A>C (p.Lys615Gln) n.2877A>C c.2056A>C (p.Lys686Gln) n.2871A>C | |
X | g.53248143C>A | CA413156923 | IQSEC2 | c.2712G>T (p.Gln904His) c.505G>T c.14G>T c.2553G>T (p.Gln851His) n.304G>T c.2523G>T (p.Gln841His) c.1938G>T (p.Gln646His) c.2649G>T (p.Gln883His) c.1875G>T (p.Gln625His) c.1842G>T (p.Gln614His) n.2876G>T c.2055G>T (p.Gln685His) n.2870G>T | |
X | g.53248143C>G | CA413156925 | IQSEC2 | c.2712G>C (p.Gln904His) c.505G>C c.14G>C c.2553G>C (p.Gln851His) n.304G>C c.2523G>C (p.Gln841His) c.1938G>C (p.Gln646His) c.2649G>C (p.Gln883His) c.1875G>C (p.Gln625His) c.1842G>C (p.Gln614His) n.2876G>C c.2055G>C (p.Gln685His) n.2870G>C | |
X | g.53248143C>T | CA516428111 | IQSEC2 | c.2712G>A (p.Gln904=) c.505G>A c.14G>A c.2553G>A (p.Gln851=) n.304G>A c.2523G>A (p.Gln841=) c.1938G>A (p.Gln646=) c.2649G>A (p.Gln883=) c.1875G>A (p.Gln625=) c.1842G>A (p.Gln614=) n.2876G>A c.2055G>A (p.Gln685=) n.2870G>A | |
X | g.53248144T>A | CA413156928 | IQSEC2 | c.2711A>T (p.Gln904Leu) c.504A>T c.13A>T c.2552A>T (p.Gln851Leu) n.303A>T c.2522A>T (p.Gln841Leu) c.1937A>T (p.Gln646Leu) c.2648A>T (p.Gln883Leu) c.1874A>T (p.Gln625Leu) c.1841A>T (p.Gln614Leu) n.2875A>T c.2054A>T (p.Gln685Leu) n.2869A>T | |
X | g.53248144T>C | CA413156929 | IQSEC2 | c.2711A>G (p.Gln904Arg) c.504A>G c.13A>G c.2552A>G (p.Gln851Arg) n.303A>G c.2522A>G (p.Gln841Arg) c.1937A>G (p.Gln646Arg) c.2648A>G (p.Gln883Arg) c.1874A>G (p.Gln625Arg) c.1841A>G (p.Gln614Arg) n.2875A>G c.2054A>G (p.Gln685Arg) n.2869A>G | |
X | g.53248144T>G | CA413156930 | IQSEC2 | c.2711A>C (p.Gln904Pro) c.504A>C c.13A>C c.2552A>C (p.Gln851Pro) n.303A>C c.2522A>C (p.Gln841Pro) c.1937A>C (p.Gln646Pro) c.2648A>C (p.Gln883Pro) c.1874A>C (p.Gln625Pro) c.1841A>C (p.Gln614Pro) n.2875A>C c.2054A>C (p.Gln685Pro) n.2869A>C | |
X | g.53248145G>A | CA413156932 | IQSEC2 | c.2710C>T (p.Gln904Ter) c.503C>T c.12C>T c.2551C>T (p.Gln851Ter) n.302C>T c.2521C>T (p.Gln841Ter) c.1936C>T (p.Gln646Ter) c.2647C>T (p.Gln883Ter) c.1873C>T (p.Gln625Ter) c.1840C>T (p.Gln614Ter) n.2874C>T c.2053C>T (p.Gln685Ter) n.2868C>T | ClinVar |
X | g.53248145G>C | CA413156934 | IQSEC2 | c.2710C>G (p.Gln904Glu) c.503C>G c.12C>G c.2551C>G (p.Gln851Glu) n.302C>G c.2521C>G (p.Gln841Glu) c.1936C>G (p.Gln646Glu) c.2647C>G (p.Gln883Glu) c.1873C>G (p.Gln625Glu) c.1840C>G (p.Gln614Glu) n.2874C>G c.2053C>G (p.Gln685Glu) n.2868C>G | |
X | g.53248145G>T | CA413156935 | IQSEC2 | c.2710C>A (p.Gln904Lys) c.503C>A c.12C>A c.2551C>A (p.Gln851Lys) n.302C>A c.2521C>A (p.Gln841Lys) c.1936C>A (p.Gln646Lys) c.2647C>A (p.Gln883Lys) c.1873C>A (p.Gln625Lys) c.1840C>A (p.Gln614Lys) n.2874C>A c.2053C>A (p.Gln685Lys) n.2868C>A | gnomAD v4 |
X | g.53248146G>A | CA516428115 | IQSEC2 | c.2709C>T (p.Ala903=) c.502C>T c.11C>T c.2550C>T (p.Ala850=) n.301C>T c.2520C>T (p.Ala840=) c.1935C>T (p.Ala645=) c.2646C>T (p.Ala882=) c.1872C>T (p.Ala624=) c.1839C>T (p.Ala613=) n.2873C>T c.2052C>T (p.Ala684=) n.2867C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53248146G>C | CA516428116 | IQSEC2 | c.2709C>G (p.Ala903=) c.502C>G c.11C>G c.2550C>G (p.Ala850=) n.301C>G c.2520C>G (p.Ala840=) c.1935C>G (p.Ala645=) c.2646C>G (p.Ala882=) c.1872C>G (p.Ala624=) c.1839C>G (p.Ala613=) n.2873C>G c.2052C>G (p.Ala684=) n.2867C>G | |
X | g.53248146G= | CA2429774922 | IQSEC2 | c.2709C= (p.Ala903=) c.502C= c.11C= c.2550C= (p.Ala850=) n.301C= c.2520C= (p.Ala840=) c.1935C= (p.Ala645=) c.2646C= (p.Ala882=) c.1872C= (p.Ala624=) c.1839C= (p.Ala613=) n.2873C= c.2052C= (p.Ala684=) n.2867C= | |
X | g.53248146G>T | CA516428117 | IQSEC2 | c.2709C>A (p.Ala903=) c.502C>A c.11C>A c.2550C>A (p.Ala850=) n.301C>A c.2520C>A (p.Ala840=) c.1935C>A (p.Ala645=) c.2646C>A (p.Ala882=) c.1872C>A (p.Ala624=) c.1839C>A (p.Ala613=) n.2873C>A c.2052C>A (p.Ala684=) n.2867C>A | |
X | g.53248147G>A | CA413156937 | IQSEC2 | c.2708C>T (p.Ala903Val) c.501C>T c.10C>T c.2549C>T (p.Ala850Val) n.300C>T c.2519C>T (p.Ala840Val) c.1934C>T (p.Ala645Val) c.2645C>T (p.Ala882Val) c.1871C>T (p.Ala624Val) c.1838C>T (p.Ala613Val) n.2872C>T c.2051C>T (p.Ala684Val) n.2866C>T | |
X | g.53248147G>C | CA413156938 | IQSEC2 | c.2708C>G (p.Ala903Gly) c.501C>G c.10C>G c.2549C>G (p.Ala850Gly) n.300C>G c.2519C>G (p.Ala840Gly) c.1934C>G (p.Ala645Gly) c.2645C>G (p.Ala882Gly) c.1871C>G (p.Ala624Gly) c.1838C>G (p.Ala613Gly) n.2872C>G c.2051C>G (p.Ala684Gly) n.2866C>G | |
X | g.53248147G>T | CA413156940 | IQSEC2 | c.2708C>A (p.Ala903Asp) c.501C>A c.10C>A c.2549C>A (p.Ala850Asp) n.300C>A c.2519C>A (p.Ala840Asp) c.1934C>A (p.Ala645Asp) c.2645C>A (p.Ala882Asp) c.1871C>A (p.Ala624Asp) c.1838C>A (p.Ala613Asp) n.2872C>A c.2051C>A (p.Ala684Asp) n.2866C>A | |
X | g.53248148C>A | CA413156942 | IQSEC2 | c.2707G>T (p.Ala903Ser) c.500G>T c.9G>T c.2548G>T (p.Ala850Ser) n.299G>T c.2518G>T (p.Ala840Ser) c.1933G>T (p.Ala645Ser) c.2644G>T (p.Ala882Ser) c.1870G>T (p.Ala624Ser) c.1837G>T (p.Ala613Ser) n.2871G>T c.2050G>T (p.Ala684Ser) n.2865G>T | |
X | g.53248148C>G | CA413156943 | IQSEC2 | c.2707G>C (p.Ala903Pro) c.500G>C c.9G>C c.2548G>C (p.Ala850Pro) n.299G>C c.2518G>C (p.Ala840Pro) c.1933G>C (p.Ala645Pro) c.2644G>C (p.Ala882Pro) c.1870G>C (p.Ala624Pro) c.1837G>C (p.Ala613Pro) n.2871G>C c.2050G>C (p.Ala684Pro) n.2865G>C | |
X | g.53248148C>T | CA413156944 | IQSEC2 | c.2707G>A (p.Ala903Thr) c.500G>A c.9G>A c.2548G>A (p.Ala850Thr) n.299G>A c.2518G>A (p.Ala840Thr) c.1933G>A (p.Ala645Thr) c.2644G>A (p.Ala882Thr) c.1870G>A (p.Ala624Thr) c.1837G>A (p.Ala613Thr) n.2871G>A c.2050G>A (p.Ala684Thr) n.2865G>A | gnomAD v4 |
X | g.53248149C>A | CA413156947 | IQSEC2 | c.2706G>T (p.Glu902Asp) c.499G>T c.8G>T c.2547G>T (p.Glu849Asp) n.298G>T c.2517G>T (p.Glu839Asp) c.1932G>T (p.Glu644Asp) c.2643G>T (p.Glu881Asp) c.1869G>T (p.Glu623Asp) c.1836G>T (p.Glu612Asp) n.2870G>T c.2049G>T (p.Glu683Asp) n.2864G>T | |
X | g.53248149C>G | CA413156949 | IQSEC2 | c.2706G>C (p.Glu902Asp) c.499G>C c.8G>C c.2547G>C (p.Glu849Asp) n.298G>C c.2517G>C (p.Glu839Asp) c.1932G>C (p.Glu644Asp) c.2643G>C (p.Glu881Asp) c.1869G>C (p.Glu623Asp) c.1836G>C (p.Glu612Asp) n.2870G>C c.2049G>C (p.Glu683Asp) n.2864G>C | |
X | g.53248149C>T | CA516428127 | IQSEC2 | c.2706G>A (p.Glu902=) c.499G>A c.8G>A c.2547G>A (p.Glu849=) n.298G>A c.2517G>A (p.Glu839=) c.1932G>A (p.Glu644=) c.2643G>A (p.Glu881=) c.1869G>A (p.Glu623=) c.1836G>A (p.Glu612=) n.2870G>A c.2049G>A (p.Glu683=) n.2864G>A | |
X | g.53248150T>A | CA413156953 | IQSEC2 | c.2705A>T (p.Glu902Val) c.498A>T c.7A>T c.2546A>T (p.Glu849Val) n.297A>T c.2516A>T (p.Glu839Val) c.1931A>T (p.Glu644Val) c.2642A>T (p.Glu881Val) c.1868A>T (p.Glu623Val) c.1835A>T (p.Glu612Val) n.2869A>T c.2048A>T (p.Glu683Val) n.2863A>T | |
X | g.53248150T>C | CA413156955 | IQSEC2 | c.2705A>G (p.Glu902Gly) c.498A>G c.7A>G c.2546A>G (p.Glu849Gly) n.297A>G c.2516A>G (p.Glu839Gly) c.1931A>G (p.Glu644Gly) c.2642A>G (p.Glu881Gly) c.1868A>G (p.Glu623Gly) c.1835A>G (p.Glu612Gly) n.2869A>G c.2048A>G (p.Glu683Gly) n.2863A>G | |
X | g.53248150T>G | CA413156958 | IQSEC2 | c.2705A>C (p.Glu902Ala) c.498A>C c.7A>C c.2546A>C (p.Glu849Ala) n.297A>C c.2516A>C (p.Glu839Ala) c.1931A>C (p.Glu644Ala) c.2642A>C (p.Glu881Ala) c.1868A>C (p.Glu623Ala) c.1835A>C (p.Glu612Ala) n.2869A>C c.2048A>C (p.Glu683Ala) n.2863A>C | |
X | g.53248151C>A | CA413156960 | IQSEC2 | c.2704G>T (p.Glu902Ter) c.497G>T c.6G>T c.2545G>T (p.Glu849Ter) n.296G>T c.2515G>T (p.Glu839Ter) c.1930G>T (p.Glu644Ter) c.2641G>T (p.Glu881Ter) c.1867G>T (p.Glu623Ter) c.1834G>T (p.Glu612Ter) n.2868G>T c.2047G>T (p.Glu683Ter) n.2862G>T | |
X | g.53248151C>G | CA413156963 | IQSEC2 | c.2704G>C (p.Glu902Gln) c.497G>C c.6G>C c.2545G>C (p.Glu849Gln) n.296G>C c.2515G>C (p.Glu839Gln) c.1930G>C (p.Glu644Gln) c.2641G>C (p.Glu881Gln) c.1867G>C (p.Glu623Gln) c.1834G>C (p.Glu612Gln) n.2868G>C c.2047G>C (p.Glu683Gln) n.2862G>C | |
X | g.53248151C>T | CA413156966 | IQSEC2 | c.2704G>A (p.Glu902Lys) c.497G>A c.6G>A c.2545G>A (p.Glu849Lys) n.296G>A c.2515G>A (p.Glu839Lys) c.1930G>A (p.Glu644Lys) c.2641G>A (p.Glu881Lys) c.1867G>A (p.Glu623Lys) c.1834G>A (p.Glu612Lys) n.2868G>A c.2047G>A (p.Glu683Lys) n.2862G>A | |
X | g.53248152A>C | CA516428132 | IQSEC2 | c.2703T>G (p.Gly901=) c.496T>G c.5T>G c.2544T>G (p.Gly848=) n.295T>G c.2514T>G (p.Gly838=) c.1929T>G (p.Gly643=) c.2640T>G (p.Gly880=) c.1866T>G (p.Gly622=) c.1833T>G (p.Gly611=) n.2867T>G c.2046T>G (p.Gly682=) n.2861T>G | |
X | g.53248152A>G | CA516428133 | IQSEC2 | c.2703T>C (p.Gly901=) c.496T>C c.5T>C c.2544T>C (p.Gly848=) n.295T>C c.2514T>C (p.Gly838=) c.1929T>C (p.Gly643=) c.2640T>C (p.Gly880=) c.1866T>C (p.Gly622=) c.1833T>C (p.Gly611=) n.2867T>C c.2046T>C (p.Gly682=) n.2861T>C | |
X | g.53248152A>T | CA516428135 | IQSEC2 | c.2703T>A (p.Gly901=) c.496T>A c.5T>A c.2544T>A (p.Gly848=) n.295T>A c.2514T>A (p.Gly838=) c.1929T>A (p.Gly643=) c.2640T>A (p.Gly880=) c.1866T>A (p.Gly622=) c.1833T>A (p.Gly611=) n.2867T>A c.2046T>A (p.Gly682=) n.2861T>A | |
X | g.53248153C>A | CA413156968 | IQSEC2 | c.2702G>T (p.Gly901Val) c.495G>T c.4G>T c.2543G>T (p.Gly848Val) n.294G>T c.2513G>T (p.Gly838Val) c.1928G>T (p.Gly643Val) c.2639G>T (p.Gly880Val) c.1865G>T (p.Gly622Val) c.1832G>T (p.Gly611Val) n.2866G>T c.2045G>T (p.Gly682Val) n.2860G>T | |
X | g.53248153C>G | CA413156970 | IQSEC2 | c.2702G>C (p.Gly901Ala) c.495G>C c.4G>C c.2543G>C (p.Gly848Ala) n.294G>C c.2513G>C (p.Gly838Ala) c.1928G>C (p.Gly643Ala) c.2639G>C (p.Gly880Ala) c.1865G>C (p.Gly622Ala) c.1832G>C (p.Gly611Ala) n.2866G>C c.2045G>C (p.Gly682Ala) n.2860G>C | |
X | g.53248153C>T | CA413156972 | IQSEC2 | c.2702G>A (p.Gly901Asp) c.495G>A c.4G>A c.2543G>A (p.Gly848Asp) n.294G>A c.2513G>A (p.Gly838Asp) c.1928G>A (p.Gly643Asp) c.2639G>A (p.Gly880Asp) c.1865G>A (p.Gly622Asp) c.1832G>A (p.Gly611Asp) n.2866G>A c.2045G>A (p.Gly682Asp) n.2860G>A | |
X | g.53248154C>A | CA413156975 | IQSEC2 | c.2701G>T (p.Gly901Cys) c.494G>T c.3G>T c.2542G>T (p.Gly848Cys) n.293G>T c.2512G>T (p.Gly838Cys) c.1927G>T (p.Gly643Cys) c.2638G>T (p.Gly880Cys) c.1864G>T (p.Gly622Cys) c.1831G>T (p.Gly611Cys) n.2865G>T c.2044G>T (p.Gly682Cys) n.2859G>T | |
X | g.53248154C>G | CA413156978 | IQSEC2 | c.2701G>C (p.Gly901Arg) c.494G>C c.3G>C c.2542G>C (p.Gly848Arg) n.293G>C c.2512G>C (p.Gly838Arg) c.1927G>C (p.Gly643Arg) c.2638G>C (p.Gly880Arg) c.1864G>C (p.Gly622Arg) c.1831G>C (p.Gly611Arg) n.2865G>C c.2044G>C (p.Gly682Arg) n.2859G>C | |
X | g.53248154C>T | CA413156980 | IQSEC2 | c.2701G>A (p.Gly901Ser) c.494G>A c.3G>A c.2542G>A (p.Gly848Ser) n.293G>A c.2512G>A (p.Gly838Ser) c.1927G>A (p.Gly643Ser) c.2638G>A (p.Gly880Ser) c.1864G>A (p.Gly622Ser) c.1831G>A (p.Gly611Ser) n.2865G>A c.2044G>A (p.Gly682Ser) n.2859G>A | |
X | g.53248155C>A | CA413156982 | IQSEC2 | c.2700G>T (p.Gln900His) c.493G>T c.2G>T c.2541G>T (p.Gln847His) n.292G>T c.2511G>T (p.Gln837His) c.1926G>T (p.Gln642His) c.2637G>T (p.Gln879His) c.1863G>T (p.Gln621His) c.1830G>T (p.Gln610His) n.2864G>T c.2043G>T (p.Gln681His) n.2858G>T | |
X | g.53248155C>G | CA413156985 | IQSEC2 | c.2700G>C (p.Gln900His) c.493G>C c.2G>C c.2541G>C (p.Gln847His) n.292G>C c.2511G>C (p.Gln837His) c.1926G>C (p.Gln642His) c.2637G>C (p.Gln879His) c.1863G>C (p.Gln621His) c.1830G>C (p.Gln610His) n.2864G>C c.2043G>C (p.Gln681His) n.2858G>C | |
X | g.53248155C>T | CA516428139 | IQSEC2 | c.2700G>A (p.Gln900=) c.493G>A c.2G>A c.2541G>A (p.Gln847=) n.292G>A c.2511G>A (p.Gln837=) c.1926G>A (p.Gln642=) c.2637G>A (p.Gln879=) c.1863G>A (p.Gln621=) c.1830G>A (p.Gln610=) n.2864G>A c.2043G>A (p.Gln681=) n.2858G>A | |
X | g.53248156T>A | CA413156988 | IQSEC2 | c.2699A>T (p.Gln900Leu) c.492A>T c.1A>T c.2540A>T (p.Gln847Leu) n.291A>T c.2510A>T (p.Gln837Leu) c.1925A>T (p.Gln642Leu) c.2636A>T (p.Gln879Leu) c.1862A>T (p.Gln621Leu) c.1829A>T (p.Gln610Leu) n.2863A>T c.2042A>T (p.Gln681Leu) n.2857A>T | |
X | g.53248156T>C | CA413156992 | IQSEC2 | c.2699A>G (p.Gln900Arg) c.492A>G c.1A>G c.2540A>G (p.Gln847Arg) n.291A>G c.2510A>G (p.Gln837Arg) c.1925A>G (p.Gln642Arg) c.2636A>G (p.Gln879Arg) c.1862A>G (p.Gln621Arg) c.1829A>G (p.Gln610Arg) n.2863A>G c.2042A>G (p.Gln681Arg) n.2857A>G | |
X | g.53248156T>G | CA413156991 | IQSEC2 | c.2699A>C (p.Gln900Pro) c.492A>C c.1A>C c.2540A>C (p.Gln847Pro) n.291A>C c.2510A>C (p.Gln837Pro) c.1925A>C (p.Gln642Pro) c.2636A>C (p.Gln879Pro) c.1862A>C (p.Gln621Pro) c.1829A>C (p.Gln610Pro) n.2863A>C c.2042A>C (p.Gln681Pro) n.2857A>C | |
X | g.53248157G>A | CA413156995 | IQSEC2 | c.2698C>T (p.Gln900Ter) c.491C>T c.2539C>T (p.Gln847Ter) n.290C>T c.2509C>T (p.Gln837Ter) c.1924C>T (p.Gln642Ter) c.2635C>T (p.Gln879Ter) c.1861C>T (p.Gln621Ter) c.1828C>T (p.Gln610Ter) n.2862C>T c.2041C>T (p.Gln681Ter) n.2856C>T | COSMIC |
X | g.53248157G>C | CA413156999 | IQSEC2 | c.2698C>G (p.Gln900Glu) c.491C>G c.2539C>G (p.Gln847Glu) n.290C>G c.2509C>G (p.Gln837Glu) c.1924C>G (p.Gln642Glu) c.2635C>G (p.Gln879Glu) c.1861C>G (p.Gln621Glu) c.1828C>G (p.Gln610Glu) n.2862C>G c.2041C>G (p.Gln681Glu) n.2856C>G | |
X | g.53248157G>T | CA413156997 | IQSEC2 | c.2698C>A (p.Gln900Lys) c.491C>A c.2539C>A (p.Gln847Lys) n.290C>A c.2509C>A (p.Gln837Lys) c.1924C>A (p.Gln642Lys) c.2635C>A (p.Gln879Lys) c.1861C>A (p.Gln621Lys) c.1828C>A (p.Gln610Lys) n.2862C>A c.2041C>A (p.Gln681Lys) n.2856C>A | ClinVar |
X | g.53248158A>C | CA516428142 | IQSEC2 | c.2697T>G (p.Val899=) c.490T>G c.2538T>G (p.Val846=) n.289T>G c.2508T>G (p.Val836=) c.1923T>G (p.Val641=) c.2634T>G (p.Val878=) c.1860T>G (p.Val620=) c.1827T>G (p.Val609=) n.2861T>G c.2040T>G (p.Val680=) n.2855T>G | |
X | g.53248158A>G | CA516428143 | IQSEC2 | c.2697T>C (p.Val899=) c.490T>C c.2538T>C (p.Val846=) n.289T>C c.2508T>C (p.Val836=) c.1923T>C (p.Val641=) c.2634T>C (p.Val878=) c.1860T>C (p.Val620=) c.1827T>C (p.Val609=) n.2861T>C c.2040T>C (p.Val680=) n.2855T>C | |
X | g.53248158A>T | CA516428144 | IQSEC2 | c.2697T>A (p.Val899=) c.490T>A c.2538T>A (p.Val846=) n.289T>A c.2508T>A (p.Val836=) c.1923T>A (p.Val641=) c.2634T>A (p.Val878=) c.1860T>A (p.Val620=) c.1827T>A (p.Val609=) n.2861T>A c.2040T>A (p.Val680=) n.2855T>A | |
X | g.53248159A>C | CA413157003 | IQSEC2 | c.2696T>G (p.Val899Gly) c.489T>G c.2537T>G (p.Val846Gly) n.288T>G c.2507T>G (p.Val836Gly) c.1922T>G (p.Val641Gly) c.2633T>G (p.Val878Gly) c.1859T>G (p.Val620Gly) c.1826T>G (p.Val609Gly) n.2860T>G c.2039T>G (p.Val680Gly) n.2854T>G | |
X | g.53248159A>G | CA413157005 | IQSEC2 | c.2696T>C (p.Val899Ala) c.489T>C c.2537T>C (p.Val846Ala) n.288T>C c.2507T>C (p.Val836Ala) c.1922T>C (p.Val641Ala) c.2633T>C (p.Val878Ala) c.1859T>C (p.Val620Ala) c.1826T>C (p.Val609Ala) n.2860T>C c.2039T>C (p.Val680Ala) n.2854T>C | |
X | g.53248159A>T | CA413157007 | IQSEC2 | c.2696T>A (p.Val899Asp) c.489T>A c.2537T>A (p.Val846Asp) n.288T>A c.2507T>A (p.Val836Asp) c.1922T>A (p.Val641Asp) c.2633T>A (p.Val878Asp) c.1859T>A (p.Val620Asp) c.1826T>A (p.Val609Asp) n.2860T>A c.2039T>A (p.Val680Asp) n.2854T>A | |
X | g.53248160C>A | CA413157011 | IQSEC2 | c.2695G>T (p.Val899Phe) c.488G>T c.2536G>T (p.Val846Phe) n.287G>T c.2506G>T (p.Val836Phe) c.1921G>T (p.Val641Phe) c.2632G>T (p.Val878Phe) c.1858G>T (p.Val620Phe) c.1825G>T (p.Val609Phe) n.2859G>T c.2038G>T (p.Val680Phe) n.2853G>T | |
X | g.53248160C>G | CA413157014 | IQSEC2 | c.2695G>C (p.Val899Leu) c.488G>C c.2536G>C (p.Val846Leu) n.287G>C c.2506G>C (p.Val836Leu) c.1921G>C (p.Val641Leu) c.2632G>C (p.Val878Leu) c.1858G>C (p.Val620Leu) c.1825G>C (p.Val609Leu) n.2859G>C c.2038G>C (p.Val680Leu) n.2853G>C | |
X | g.53248160C>T | CA413157015 | IQSEC2 | c.2695G>A (p.Val899Ile) c.488G>A c.2536G>A (p.Val846Ile) n.287G>A c.2506G>A (p.Val836Ile) c.1921G>A (p.Val641Ile) c.2632G>A (p.Val878Ile) c.1858G>A (p.Val620Ile) c.1825G>A (p.Val609Ile) n.2859G>A c.2038G>A (p.Val680Ile) n.2853G>A | |
X | g.53248161C>A | CA516428155 | IQSEC2 | c.2694G>T (p.Arg898=) c.487G>T c.2535G>T (p.Arg845=) n.286G>T c.2505G>T (p.Arg835=) c.1920G>T (p.Arg640=) c.2631G>T (p.Arg877=) c.1857G>T (p.Arg619=) c.1824G>T (p.Arg608=) n.2858G>T c.2037G>T (p.Arg679=) n.2852G>T | |
X | g.53248161C>G | CA516428156 | IQSEC2 | c.2694G>C (p.Arg898=) c.487G>C c.2535G>C (p.Arg845=) n.286G>C c.2505G>C (p.Arg835=) c.1920G>C (p.Arg640=) c.2631G>C (p.Arg877=) c.1857G>C (p.Arg619=) c.1824G>C (p.Arg608=) n.2858G>C c.2037G>C (p.Arg679=) n.2852G>C | gnomAD v4 |
X | g.53248161C>T | CA516428158 | IQSEC2 | c.2694G>A (p.Arg898=) c.487G>A c.2535G>A (p.Arg845=) n.286G>A c.2505G>A (p.Arg835=) c.1920G>A (p.Arg640=) c.2631G>A (p.Arg877=) c.1857G>A (p.Arg619=) c.1824G>A (p.Arg608=) n.2858G>A c.2037G>A (p.Arg679=) n.2852G>A | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53248162C>A | CA413157018 | IQSEC2 | c.2693G>T (p.Arg898Leu) c.486G>T c.2534G>T (p.Arg845Leu) n.285G>T c.2504G>T (p.Arg835Leu) c.1919G>T (p.Arg640Leu) c.2630G>T (p.Arg877Leu) c.1856G>T (p.Arg619Leu) c.1823G>T (p.Arg608Leu) n.2857G>T c.2036G>T (p.Arg679Leu) n.2851G>T | |
X | g.53248162C= | CA2429774923 | IQSEC2 | c.2693G= (p.Arg898=) c.486G= c.2534G= (p.Arg845=) n.285G= c.2504G= (p.Arg835=) c.1919G= (p.Arg640=) c.2630G= (p.Arg877=) c.1856G= (p.Arg619=) c.1823G= (p.Arg608=) n.2857G= c.2036G= (p.Arg679=) n.2851G= | |
X | g.53248162C>G | CA413157021 | IQSEC2 | c.2693G>C (p.Arg898Pro) c.486G>C c.2534G>C (p.Arg845Pro) n.285G>C c.2504G>C (p.Arg835Pro) c.1919G>C (p.Arg640Pro) c.2630G>C (p.Arg877Pro) c.1856G>C (p.Arg619Pro) c.1823G>C (p.Arg608Pro) n.2857G>C c.2036G>C (p.Arg679Pro) n.2851G>C | |
X | g.53248162C>T | CA413157024 | IQSEC2 | c.2693G>A (p.Arg898Gln) c.486G>A c.2534G>A (p.Arg845Gln) n.285G>A c.2504G>A (p.Arg835Gln) c.1919G>A (p.Arg640Gln) c.2630G>A (p.Arg877Gln) c.1856G>A (p.Arg619Gln) c.1823G>A (p.Arg608Gln) n.2857G>A c.2036G>A (p.Arg679Gln) n.2851G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248163G>A | CA413157026 | IQSEC2 | c.2692C>T (p.Arg898Trp) c.485C>T c.2533C>T (p.Arg845Trp) n.284C>T c.2503C>T (p.Arg835Trp) c.1918C>T (p.Arg640Trp) c.2629C>T (p.Arg877Trp) c.1855C>T (p.Arg619Trp) c.1822C>T (p.Arg608Trp) n.2856C>T c.2035C>T (p.Arg679Trp) n.2850C>T | ClinVar |
X | g.53248163G>C | CA413157028 | IQSEC2 | c.2692C>G (p.Arg898Gly) c.485C>G c.2533C>G (p.Arg845Gly) n.284C>G c.2503C>G (p.Arg835Gly) c.1918C>G (p.Arg640Gly) c.2629C>G (p.Arg877Gly) c.1855C>G (p.Arg619Gly) c.1822C>G (p.Arg608Gly) n.2856C>G c.2035C>G (p.Arg679Gly) n.2850C>G | |
X | g.53248163G>T | CA516428165 | IQSEC2 | c.2692C>A (p.Arg898=) c.485C>A c.2533C>A (p.Arg845=) n.284C>A c.2503C>A (p.Arg835=) c.1918C>A (p.Arg640=) c.2629C>A (p.Arg877=) c.1855C>A (p.Arg619=) c.1822C>A (p.Arg608=) n.2856C>A c.2035C>A (p.Arg679=) n.2850C>A | |
X | g.53248164G>A | CA516428168 | IQSEC2 | c.2691C>T (p.Ile897=) c.484C>T c.2532C>T (p.Ile844=) n.283C>T c.2502C>T (p.Ile834=) c.1917C>T (p.Ile639=) c.2628C>T (p.Ile876=) c.1854C>T (p.Ile618=) c.1821C>T (p.Ile607=) n.2855C>T c.2034C>T (p.Ile678=) n.2849C>T | |
X | g.53248164G>C | CA413157032 | IQSEC2 | c.2691C>G (p.Ile897Met) c.484C>G c.2532C>G (p.Ile844Met) n.283C>G c.2502C>G (p.Ile834Met) c.1917C>G (p.Ile639Met) c.2628C>G (p.Ile876Met) c.1854C>G (p.Ile618Met) c.1821C>G (p.Ile607Met) n.2855C>G c.2034C>G (p.Ile678Met) n.2849C>G | |
X | g.53248164G>T | CA516428169 | IQSEC2 | c.2691C>A (p.Ile897=) c.484C>A c.2532C>A (p.Ile844=) n.283C>A c.2502C>A (p.Ile834=) c.1917C>A (p.Ile639=) c.2628C>A (p.Ile876=) c.1854C>A (p.Ile618=) c.1821C>A (p.Ile607=) n.2855C>A c.2034C>A (p.Ile678=) n.2849C>A | |
X | g.53248165A>C | CA413157036 | IQSEC2 | c.2690T>G (p.Ile897Ser) c.483T>G c.2531T>G (p.Ile844Ser) n.282T>G c.2501T>G (p.Ile834Ser) c.1916T>G (p.Ile639Ser) c.2627T>G (p.Ile876Ser) c.1853T>G (p.Ile618Ser) c.1820T>G (p.Ile607Ser) n.2854T>G c.2033T>G (p.Ile678Ser) n.2848T>G | |
X | g.53248165A>G | CA413157037 | IQSEC2 | c.2690T>C (p.Ile897Thr) c.483T>C c.2531T>C (p.Ile844Thr) n.282T>C c.2501T>C (p.Ile834Thr) c.1916T>C (p.Ile639Thr) c.2627T>C (p.Ile876Thr) c.1853T>C (p.Ile618Thr) c.1820T>C (p.Ile607Thr) n.2854T>C c.2033T>C (p.Ile678Thr) n.2848T>C | |
X | g.53248165A>T | CA413157039 | IQSEC2 | c.2690T>A (p.Ile897Asn) c.483T>A c.2531T>A (p.Ile844Asn) n.282T>A c.2501T>A (p.Ile834Asn) c.1916T>A (p.Ile639Asn) c.2627T>A (p.Ile876Asn) c.1853T>A (p.Ile618Asn) c.1820T>A (p.Ile607Asn) n.2854T>A c.2033T>A (p.Ile678Asn) n.2848T>A | ClinVar |
X | g.53248166T>A | CA413157042 | IQSEC2 | c.2689A>T (p.Ile897Phe) c.482A>T c.2530A>T (p.Ile844Phe) n.281A>T c.2500A>T (p.Ile834Phe) c.1915A>T (p.Ile639Phe) c.2626A>T (p.Ile876Phe) c.1852A>T (p.Ile618Phe) c.1819A>T (p.Ile607Phe) n.2853A>T c.2032A>T (p.Ile678Phe) n.2847A>T | |
X | g.53248166T>C | CA413157044 | IQSEC2 | c.2689A>G (p.Ile897Val) c.482A>G c.2530A>G (p.Ile844Val) n.281A>G c.2500A>G (p.Ile834Val) c.1915A>G (p.Ile639Val) c.2626A>G (p.Ile876Val) c.1852A>G (p.Ile618Val) c.1819A>G (p.Ile607Val) n.2853A>G c.2032A>G (p.Ile678Val) n.2847A>G | |
X | g.53248166T>G | CA413157047 | IQSEC2 | c.2689A>C (p.Ile897Leu) c.482A>C c.2530A>C (p.Ile844Leu) n.281A>C c.2500A>C (p.Ile834Leu) c.1915A>C (p.Ile639Leu) c.2626A>C (p.Ile876Leu) c.1852A>C (p.Ile618Leu) c.1819A>C (p.Ile607Leu) n.2853A>C c.2032A>C (p.Ile678Leu) n.2847A>C | |
X | g.53248167A>C | CA413157049 | IQSEC2 | c.2688T>G (p.His896Gln) c.481T>G c.2529T>G (p.His843Gln) n.280T>G c.2499T>G (p.His833Gln) c.1914T>G (p.His638Gln) c.2625T>G (p.His875Gln) c.1851T>G (p.His617Gln) c.1818T>G (p.His606Gln) n.2852T>G c.2031T>G (p.His677Gln) n.2846T>G | |
X | g.53248167A>G | CA516428175 | IQSEC2 | c.2688T>C (p.His896=) c.481T>C c.2529T>C (p.His843=) n.280T>C c.2499T>C (p.His833=) c.1914T>C (p.His638=) c.2625T>C (p.His875=) c.1851T>C (p.His617=) c.1818T>C (p.His606=) n.2852T>C c.2031T>C (p.His677=) n.2846T>C | ClinVar dbSNP |
X | g.53248167A>T | CA413157050 | IQSEC2 | c.2688T>A (p.His896Gln) c.481T>A c.2529T>A (p.His843Gln) n.280T>A c.2499T>A (p.His833Gln) c.1914T>A (p.His638Gln) c.2625T>A (p.His875Gln) c.1851T>A (p.His617Gln) c.1818T>A (p.His606Gln) n.2852T>A c.2031T>A (p.His677Gln) n.2846T>A | |
X | g.53248168T>A | CA413157056 | IQSEC2 | c.2687A>T (p.His896Leu) c.480A>T c.2528A>T (p.His843Leu) n.279A>T c.2498A>T (p.His833Leu) c.1913A>T (p.His638Leu) c.2624A>T (p.His875Leu) c.1850A>T (p.His617Leu) c.1817A>T (p.His606Leu) n.2851A>T c.2030A>T (p.His677Leu) n.2845A>T | |
X | g.53248168T>C | CA413157057 | IQSEC2 | c.2687A>G (p.His896Arg) c.480A>G c.2528A>G (p.His843Arg) n.279A>G c.2498A>G (p.His833Arg) c.1913A>G (p.His638Arg) c.2624A>G (p.His875Arg) c.1850A>G (p.His617Arg) c.1817A>G (p.His606Arg) n.2851A>G c.2030A>G (p.His677Arg) n.2845A>G | |
X | g.53248168T>G | CA413157059 | IQSEC2 | c.2687A>C (p.His896Pro) c.480A>C c.2528A>C (p.His843Pro) n.279A>C c.2498A>C (p.His833Pro) c.1913A>C (p.His638Pro) c.2624A>C (p.His875Pro) c.1850A>C (p.His617Pro) c.1817A>C (p.His606Pro) n.2851A>C c.2030A>C (p.His677Pro) n.2845A>C | |
X | g.53248169G>A | CA413157066 | IQSEC2 | c.2686C>T (p.His896Tyr) c.479C>T c.2527C>T (p.His843Tyr) n.278C>T c.2497C>T (p.His833Tyr) c.1912C>T (p.His638Tyr) c.2623C>T (p.His875Tyr) c.1849C>T (p.His617Tyr) c.1816C>T (p.His606Tyr) n.2850C>T c.2029C>T (p.His677Tyr) n.2844C>T | gnomAD v4 |
X | g.53248169G>C | CA413157068 | IQSEC2 | c.2686C>G (p.His896Asp) c.479C>G c.2527C>G (p.His843Asp) n.278C>G c.2497C>G (p.His833Asp) c.1912C>G (p.His638Asp) c.2623C>G (p.His875Asp) c.1849C>G (p.His617Asp) c.1816C>G (p.His606Asp) n.2850C>G c.2029C>G (p.His677Asp) n.2844C>G | |
X | g.53248169G>T | CA413157064 | IQSEC2 | c.2686C>A (p.His896Asn) c.479C>A c.2527C>A (p.His843Asn) n.278C>A c.2497C>A (p.His833Asn) c.1912C>A (p.His638Asn) c.2623C>A (p.His875Asn) c.1849C>A (p.His617Asn) c.1816C>A (p.His606Asn) n.2850C>A c.2029C>A (p.His677Asn) n.2844C>A | |
X | g.53248170G>A | CA516428179 | IQSEC2 | c.2685C>T (p.Ser895=) c.478C>T c.2526C>T (p.Ser842=) n.277C>T c.2496C>T (p.Ser832=) c.1911C>T (p.Ser637=) c.2622C>T (p.Ser874=) c.1848C>T (p.Ser616=) c.1815C>T (p.Ser605=) n.2849C>T c.2028C>T (p.Ser676=) n.2843C>T | |
X | g.53248170G>C | CA516428183 | IQSEC2 | c.2685C>G (p.Ser895=) c.478C>G c.2526C>G (p.Ser842=) n.277C>G c.2496C>G (p.Ser832=) c.1911C>G (p.Ser637=) c.2622C>G (p.Ser874=) c.1848C>G (p.Ser616=) c.1815C>G (p.Ser605=) n.2849C>G c.2028C>G (p.Ser676=) n.2843C>G | |
X | g.53248170G>T | CA516428187 | IQSEC2 | c.2685C>A (p.Ser895=) c.478C>A c.2526C>A (p.Ser842=) n.277C>A c.2496C>A (p.Ser832=) c.1911C>A (p.Ser637=) c.2622C>A (p.Ser874=) c.1848C>A (p.Ser616=) c.1815C>A (p.Ser605=) n.2849C>A c.2028C>A (p.Ser676=) n.2843C>A | |
X | g.53248171G>A | CA413157073 | IQSEC2 | c.2684C>T (p.Ser895Phe) c.477C>T c.2525C>T (p.Ser842Phe) n.276C>T c.2495C>T (p.Ser832Phe) c.1910C>T (p.Ser637Phe) c.2621C>T (p.Ser874Phe) c.1847C>T (p.Ser616Phe) c.1814C>T (p.Ser605Phe) n.2848C>T c.2027C>T (p.Ser676Phe) n.2842C>T | |
X | g.53248171G>C | CA413157074 | IQSEC2 | c.2684C>G (p.Ser895Cys) c.477C>G c.2525C>G (p.Ser842Cys) n.276C>G c.2495C>G (p.Ser832Cys) c.1910C>G (p.Ser637Cys) c.2621C>G (p.Ser874Cys) c.1847C>G (p.Ser616Cys) c.1814C>G (p.Ser605Cys) n.2848C>G c.2027C>G (p.Ser676Cys) n.2842C>G | ClinVar dbSNP |
X | g.53248171G= | CA2429774924 | IQSEC2 | c.2684C= (p.Ser895=) c.477C= c.2525C= (p.Ser842=) n.276C= c.2495C= (p.Ser832=) c.1910C= (p.Ser637=) c.2621C= (p.Ser874=) c.1847C= (p.Ser616=) c.1814C= (p.Ser605=) n.2848C= c.2027C= (p.Ser676=) n.2842C= | |
X | g.53248171G>T | CA413157075 | IQSEC2 | c.2684C>A (p.Ser895Tyr) c.477C>A c.2525C>A (p.Ser842Tyr) n.276C>A c.2495C>A (p.Ser832Tyr) c.1910C>A (p.Ser637Tyr) c.2621C>A (p.Ser874Tyr) c.1847C>A (p.Ser616Tyr) c.1814C>A (p.Ser605Tyr) n.2848C>A c.2027C>A (p.Ser676Tyr) n.2842C>A | |
X | g.53248172A>C | CA413157077 | IQSEC2 | c.2683T>G (p.Ser895Ala) c.476T>G c.2524T>G (p.Ser842Ala) n.275T>G c.2494T>G (p.Ser832Ala) c.1909T>G (p.Ser637Ala) c.2620T>G (p.Ser874Ala) c.1846T>G (p.Ser616Ala) c.1813T>G (p.Ser605Ala) n.2847T>G c.2026T>G (p.Ser676Ala) n.2841T>G | |
X | g.53248172A>G | CA413157080 | IQSEC2 | c.2683T>C (p.Ser895Pro) c.476T>C c.2524T>C (p.Ser842Pro) n.275T>C c.2494T>C (p.Ser832Pro) c.1909T>C (p.Ser637Pro) c.2620T>C (p.Ser874Pro) c.1846T>C (p.Ser616Pro) c.1813T>C (p.Ser605Pro) n.2847T>C c.2026T>C (p.Ser676Pro) n.2841T>C | |
X | g.53248172A>T | CA413157082 | IQSEC2 | c.2683T>A (p.Ser895Thr) c.476T>A c.2524T>A (p.Ser842Thr) n.275T>A c.2494T>A (p.Ser832Thr) c.1909T>A (p.Ser637Thr) c.2620T>A (p.Ser874Thr) c.1846T>A (p.Ser616Thr) c.1813T>A (p.Ser605Thr) n.2847T>A c.2026T>A (p.Ser676Thr) n.2841T>A | |
X | g.53248173C>A | CA413157086 | IQSEC2 | c.2682G>T (p.Gln894His) c.475G>T c.2523G>T (p.Gln841His) n.274G>T c.2493G>T (p.Gln831His) c.1908G>T (p.Gln636His) c.2619G>T (p.Gln873His) c.1845G>T (p.Gln615His) c.1812G>T (p.Gln604His) n.2846G>T c.2025G>T (p.Gln675His) n.2840G>T | |
X | g.53248173C>G | CA413157087 | IQSEC2 | c.2682G>C (p.Gln894His) c.475G>C c.2523G>C (p.Gln841His) n.274G>C c.2493G>C (p.Gln831His) c.1908G>C (p.Gln636His) c.2619G>C (p.Gln873His) c.1845G>C (p.Gln615His) c.1812G>C (p.Gln604His) n.2846G>C c.2025G>C (p.Gln675His) n.2840G>C | |
X | g.53248173C>T | CA516428197 | IQSEC2 | c.2682G>A (p.Gln894=) c.475G>A c.2523G>A (p.Gln841=) n.274G>A c.2493G>A (p.Gln831=) c.1908G>A (p.Gln636=) c.2619G>A (p.Gln873=) c.1845G>A (p.Gln615=) c.1812G>A (p.Gln604=) n.2846G>A c.2025G>A (p.Gln675=) n.2840G>A | |
X | g.53248174T>A | CA413157089 | IQSEC2 | c.2681A>T (p.Gln894Leu) c.474A>T c.2522A>T (p.Gln841Leu) n.273A>T c.2492A>T (p.Gln831Leu) c.1907A>T (p.Gln636Leu) c.2618A>T (p.Gln873Leu) c.1844A>T (p.Gln615Leu) c.1811A>T (p.Gln604Leu) n.2845A>T c.2024A>T (p.Gln675Leu) n.2839A>T | |
X | g.53248174T>C | CA413157092 | IQSEC2 | c.2681A>G (p.Gln894Arg) c.474A>G c.2522A>G (p.Gln841Arg) n.273A>G c.2492A>G (p.Gln831Arg) c.1907A>G (p.Gln636Arg) c.2618A>G (p.Gln873Arg) c.1844A>G (p.Gln615Arg) c.1811A>G (p.Gln604Arg) n.2845A>G c.2024A>G (p.Gln675Arg) n.2839A>G | |
X | g.53248174T>G | CA413157095 | IQSEC2 | c.2681A>C (p.Gln894Pro) c.474A>C c.2522A>C (p.Gln841Pro) n.273A>C c.2492A>C (p.Gln831Pro) c.1907A>C (p.Gln636Pro) c.2618A>C (p.Gln873Pro) c.1844A>C (p.Gln615Pro) c.1811A>C (p.Gln604Pro) n.2845A>C c.2024A>C (p.Gln675Pro) n.2839A>C | |
X | g.53248175G>A | CA413157102 | IQSEC2 | c.2680C>T (p.Gln894Ter) c.473C>T c.2521C>T (p.Gln841Ter) n.272C>T c.2491C>T (p.Gln831Ter) c.1906C>T (p.Gln636Ter) c.2617C>T (p.Gln873Ter) c.1843C>T (p.Gln615Ter) c.1810C>T (p.Gln604Ter) n.2844C>T c.2023C>T (p.Gln675Ter) n.2838C>T | |
X | g.53248175G>C | CA413157105 | IQSEC2 | c.2680C>G (p.Gln894Glu) c.473C>G c.2521C>G (p.Gln841Glu) n.272C>G c.2491C>G (p.Gln831Glu) c.1906C>G (p.Gln636Glu) c.2617C>G (p.Gln873Glu) c.1843C>G (p.Gln615Glu) c.1810C>G (p.Gln604Glu) n.2844C>G c.2023C>G (p.Gln675Glu) n.2838C>G | |
X | g.53248175G>T | CA413157099 | IQSEC2 | c.2680C>A (p.Gln894Lys) c.473C>A c.2521C>A (p.Gln841Lys) n.272C>A c.2491C>A (p.Gln831Lys) c.1906C>A (p.Gln636Lys) c.2617C>A (p.Gln873Lys) c.1843C>A (p.Gln615Lys) c.1810C>A (p.Gln604Lys) n.2844C>A c.2023C>A (p.Gln675Lys) n.2838C>A | |
X | g.53248176G>A | CA516428206 | IQSEC2 | c.2679C>T (p.Phe893=) c.472C>T c.2520C>T (p.Phe840=) n.271C>T c.2490C>T (p.Phe830=) c.1905C>T (p.Phe635=) c.2616C>T (p.Phe872=) c.1842C>T (p.Phe614=) c.1809C>T (p.Phe603=) n.2843C>T c.2022C>T (p.Phe674=) n.2837C>T | COSMIC COSMIC COSMIC |
X | g.53248176G>C | CA413157107 | IQSEC2 | c.2679C>G (p.Phe893Leu) c.472C>G c.2520C>G (p.Phe840Leu) n.271C>G c.2490C>G (p.Phe830Leu) c.1905C>G (p.Phe635Leu) c.2616C>G (p.Phe872Leu) c.1842C>G (p.Phe614Leu) c.1809C>G (p.Phe603Leu) n.2843C>G c.2022C>G (p.Phe674Leu) n.2837C>G | |
X | g.53248176G>T | CA413157109 | IQSEC2 | c.2679C>A (p.Phe893Leu) c.472C>A c.2520C>A (p.Phe840Leu) n.271C>A c.2490C>A (p.Phe830Leu) c.1905C>A (p.Phe635Leu) c.2616C>A (p.Phe872Leu) c.1842C>A (p.Phe614Leu) c.1809C>A (p.Phe603Leu) n.2843C>A c.2022C>A (p.Phe674Leu) n.2837C>A | |
X | g.53248177A= | CA2429774925 | IQSEC2 | c.2678T= (p.Phe893=) c.471T= c.2519T= (p.Phe840=) n.270T= c.2489T= (p.Phe830=) c.1904T= (p.Phe635=) c.2615T= (p.Phe872=) c.1841T= (p.Phe614=) c.1808T= (p.Phe603=) n.2842T= c.2021T= (p.Phe674=) n.2836T= | |
X | g.53248177A>C | CA413157111 | IQSEC2 | c.2678T>G (p.Phe893Cys) c.471T>G c.2519T>G (p.Phe840Cys) n.270T>G c.2489T>G (p.Phe830Cys) c.1904T>G (p.Phe635Cys) c.2615T>G (p.Phe872Cys) c.1841T>G (p.Phe614Cys) c.1808T>G (p.Phe603Cys) n.2842T>G c.2021T>G (p.Phe674Cys) n.2836T>G | |
X | g.53248177A>G | CA413157113 | IQSEC2 | c.2678T>C (p.Phe893Ser) c.471T>C c.2519T>C (p.Phe840Ser) n.270T>C c.2489T>C (p.Phe830Ser) c.1904T>C (p.Phe635Ser) c.2615T>C (p.Phe872Ser) c.1841T>C (p.Phe614Ser) c.1808T>C (p.Phe603Ser) n.2842T>C c.2021T>C (p.Phe674Ser) n.2836T>C | ClinVar dbSNP |
X | g.53248177A>T | CA413157115 | IQSEC2 | c.2678T>A (p.Phe893Tyr) c.471T>A c.2519T>A (p.Phe840Tyr) n.270T>A c.2489T>A (p.Phe830Tyr) c.1904T>A (p.Phe635Tyr) c.2615T>A (p.Phe872Tyr) c.1841T>A (p.Phe614Tyr) c.1808T>A (p.Phe603Tyr) n.2842T>A c.2021T>A (p.Phe674Tyr) n.2836T>A | |
X | g.53248178A>C | CA413157123 | IQSEC2 | c.2677T>G (p.Phe893Val) c.470T>G c.2518T>G (p.Phe840Val) n.269T>G c.2488T>G (p.Phe830Val) c.1903T>G (p.Phe635Val) c.2614T>G (p.Phe872Val) c.1840T>G (p.Phe614Val) c.1807T>G (p.Phe603Val) n.2841T>G c.2020T>G (p.Phe674Val) n.2835T>G | |
X | g.53248178A>G | CA413157117 | IQSEC2 | c.2677T>C (p.Phe893Leu) c.470T>C c.2518T>C (p.Phe840Leu) n.269T>C c.2488T>C (p.Phe830Leu) c.1903T>C (p.Phe635Leu) c.2614T>C (p.Phe872Leu) c.1840T>C (p.Phe614Leu) c.1807T>C (p.Phe603Leu) n.2841T>C c.2020T>C (p.Phe674Leu) n.2835T>C | |
X | g.53248178A>T | CA413157119 | IQSEC2 | c.2677T>A (p.Phe893Ile) c.470T>A c.2518T>A (p.Phe840Ile) n.269T>A c.2488T>A (p.Phe830Ile) c.1903T>A (p.Phe635Ile) c.2614T>A (p.Phe872Ile) c.1840T>A (p.Phe614Ile) c.1807T>A (p.Phe603Ile) n.2841T>A c.2020T>A (p.Phe674Ile) n.2835T>A | |
X | g.53248179C>A | CA413157125 | IQSEC2 | c.2676G>T (p.Lys892Asn) c.469G>T c.2517G>T (p.Lys839Asn) n.268G>T c.2487G>T (p.Lys829Asn) c.1902G>T (p.Lys634Asn) c.2613G>T (p.Lys871Asn) c.1839G>T (p.Lys613Asn) c.1806G>T (p.Lys602Asn) n.2840G>T c.2019G>T (p.Lys673Asn) n.2834G>T | |
X | g.53248179C= | CA2429774926 | IQSEC2 | c.2676G= (p.Lys892=) c.469G= c.2517G= (p.Lys839=) n.268G= c.2487G= (p.Lys829=) c.1902G= (p.Lys634=) c.2613G= (p.Lys871=) c.1839G= (p.Lys613=) c.1806G= (p.Lys602=) n.2840G= c.2019G= (p.Lys673=) n.2834G= | |
X | g.53248179C>G | CA413157127 | IQSEC2 | c.2676G>C (p.Lys892Asn) c.469G>C c.2517G>C (p.Lys839Asn) n.268G>C c.2487G>C (p.Lys829Asn) c.1902G>C (p.Lys634Asn) c.2613G>C (p.Lys871Asn) c.1839G>C (p.Lys613Asn) c.1806G>C (p.Lys602Asn) n.2840G>C c.2019G>C (p.Lys673Asn) n.2834G>C | gnomAD v4 |
X | g.53248179C>T | CA10419926 | IQSEC2 | c.2676G>A (p.Lys892=) c.469G>A c.2517G>A (p.Lys839=) n.268G>A c.2487G>A (p.Lys829=) c.1902G>A (p.Lys634=) c.2613G>A (p.Lys871=) c.1839G>A (p.Lys613=) c.1806G>A (p.Lys602=) n.2840G>A c.2019G>A (p.Lys673=) n.2834G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248180T>A | CA413157134 | IQSEC2 | c.2675A>T (p.Lys892Met) c.468A>T c.2516A>T (p.Lys839Met) n.267A>T c.2486A>T (p.Lys829Met) c.1901A>T (p.Lys634Met) c.2612A>T (p.Lys871Met) c.1838A>T (p.Lys613Met) c.1805A>T (p.Lys602Met) n.2839A>T c.2018A>T (p.Lys673Met) n.2833A>T | |
X | g.53248180T>C | CA413157135 | IQSEC2 | c.2675A>G (p.Lys892Arg) c.468A>G c.2516A>G (p.Lys839Arg) n.267A>G c.2486A>G (p.Lys829Arg) c.1901A>G (p.Lys634Arg) c.2612A>G (p.Lys871Arg) c.1838A>G (p.Lys613Arg) c.1805A>G (p.Lys602Arg) n.2839A>G c.2018A>G (p.Lys673Arg) n.2833A>G | |
X | g.53248180T>G | CA413157138 | IQSEC2 | c.2675A>C (p.Lys892Thr) c.468A>C c.2516A>C (p.Lys839Thr) n.267A>C c.2486A>C (p.Lys829Thr) c.1901A>C (p.Lys634Thr) c.2612A>C (p.Lys871Thr) c.1838A>C (p.Lys613Thr) c.1805A>C (p.Lys602Thr) n.2839A>C c.2018A>C (p.Lys673Thr) n.2833A>C | |
X | g.53248181T>A | CA413157146 | IQSEC2 | c.2674A>T (p.Lys892Ter) c.467A>T c.2515A>T (p.Lys839Ter) n.266A>T c.2485A>T (p.Lys829Ter) c.1900A>T (p.Lys634Ter) c.2611A>T (p.Lys871Ter) c.1837A>T (p.Lys613Ter) c.1804A>T (p.Lys602Ter) n.2838A>T c.2017A>T (p.Lys673Ter) n.2832A>T | |
X | g.53248181T>C | CA413157149 | IQSEC2 | c.2674A>G (p.Lys892Glu) c.467A>G c.2515A>G (p.Lys839Glu) n.266A>G c.2485A>G (p.Lys829Glu) c.1900A>G (p.Lys634Glu) c.2611A>G (p.Lys871Glu) c.1837A>G (p.Lys613Glu) c.1804A>G (p.Lys602Glu) n.2838A>G c.2017A>G (p.Lys673Glu) n.2832A>G | |
X | g.53248181T>G | CA413157143 | IQSEC2 | c.2674A>C (p.Lys892Gln) c.467A>C c.2515A>C (p.Lys839Gln) n.266A>C c.2485A>C (p.Lys829Gln) c.1900A>C (p.Lys634Gln) c.2611A>C (p.Lys871Gln) c.1837A>C (p.Lys613Gln) c.1804A>C (p.Lys602Gln) n.2838A>C c.2017A>C (p.Lys673Gln) n.2832A>C | |
X | g.53248182C>A | CA516428217 | IQSEC2 | c.2673G>T (p.Arg891=) c.466G>T c.2514G>T (p.Arg838=) n.265G>T c.2484G>T (p.Arg828=) c.1899G>T (p.Arg633=) c.2610G>T (p.Arg870=) c.1836G>T (p.Arg612=) c.1803G>T (p.Arg601=) n.2837G>T c.2016G>T (p.Arg672=) n.2831G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53248182C= | CA2429774927 | IQSEC2 | c.2673G= (p.Arg891=) c.466G= c.2514G= (p.Arg838=) n.265G= c.2484G= (p.Arg828=) c.1899G= (p.Arg633=) c.2610G= (p.Arg870=) c.1836G= (p.Arg612=) c.1803G= (p.Arg601=) n.2837G= c.2016G= (p.Arg672=) n.2831G= | |
X | g.53248182C>G | CA516428219 | IQSEC2 | c.2673G>C (p.Arg891=) c.466G>C c.2514G>C (p.Arg838=) n.265G>C c.2484G>C (p.Arg828=) c.1899G>C (p.Arg633=) c.2610G>C (p.Arg870=) c.1836G>C (p.Arg612=) c.1803G>C (p.Arg601=) n.2837G>C c.2016G>C (p.Arg672=) n.2831G>C | |
X | g.53248182C>T | CA516428221 | IQSEC2 | c.2673G>A (p.Arg891=) c.466G>A c.2514G>A (p.Arg838=) n.265G>A c.2484G>A (p.Arg828=) c.1899G>A (p.Arg633=) c.2610G>A (p.Arg870=) c.1836G>A (p.Arg612=) c.1803G>A (p.Arg601=) n.2837G>A c.2016G>A (p.Arg672=) n.2831G>A | |
X | g.53248183C>A | CA413157157 | IQSEC2 | c.2672G>T (p.Arg891Leu) c.465G>T c.2513G>T (p.Arg838Leu) n.264G>T c.2483G>T (p.Arg828Leu) c.1898G>T (p.Arg633Leu) c.2609G>T (p.Arg870Leu) c.1835G>T (p.Arg612Leu) c.1802G>T (p.Arg601Leu) n.2836G>T c.2015G>T (p.Arg672Leu) n.2830G>T | |
X | g.53248183C= | CA2429774928 | IQSEC2 | c.2672G= (p.Arg891=) c.465G= c.2513G= (p.Arg838=) n.264G= c.2483G= (p.Arg828=) c.1898G= (p.Arg633=) c.2609G= (p.Arg870=) c.1835G= (p.Arg612=) c.1802G= (p.Arg601=) n.2836G= c.2015G= (p.Arg672=) n.2830G= | |
X | g.53248183C>G | CA413157152 | IQSEC2 | c.2672G>C (p.Arg891Pro) c.465G>C c.2513G>C (p.Arg838Pro) n.264G>C c.2483G>C (p.Arg828Pro) c.1898G>C (p.Arg633Pro) c.2609G>C (p.Arg870Pro) c.1835G>C (p.Arg612Pro) c.1802G>C (p.Arg601Pro) n.2836G>C c.2015G>C (p.Arg672Pro) n.2830G>C | |
X | g.53248183C>T | CA413157155 | IQSEC2 | c.2672G>A (p.Arg891Gln) c.465G>A c.2513G>A (p.Arg838Gln) n.264G>A c.2483G>A (p.Arg828Gln) c.1898G>A (p.Arg633Gln) c.2609G>A (p.Arg870Gln) c.1835G>A (p.Arg612Gln) c.1802G>A (p.Arg601Gln) n.2836G>A c.2015G>A (p.Arg672Gln) n.2830G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53248184G>A | CA413157159 | IQSEC2 | c.2671C>T (p.Arg891Trp) c.464C>T c.2512C>T (p.Arg838Trp) n.263C>T c.2482C>T (p.Arg828Trp) c.1897C>T (p.Arg633Trp) c.2608C>T (p.Arg870Trp) c.1834C>T (p.Arg612Trp) c.1801C>T (p.Arg601Trp) n.2835C>T c.2014C>T (p.Arg672Trp) n.2829C>T | dbSNP gnomAD v4 |
X | g.53248184G>C | CA413157162 | IQSEC2 | c.2671C>G (p.Arg891Gly) c.464C>G c.2512C>G (p.Arg838Gly) n.263C>G c.2482C>G (p.Arg828Gly) c.1897C>G (p.Arg633Gly) c.2608C>G (p.Arg870Gly) c.1834C>G (p.Arg612Gly) c.1801C>G (p.Arg601Gly) n.2835C>G c.2014C>G (p.Arg672Gly) n.2829C>G | |
X | g.53248184G= | CA2429774929 | IQSEC2 | c.2671C= (p.Arg891=) c.464C= c.2512C= (p.Arg838=) n.263C= c.2482C= (p.Arg828=) c.1897C= (p.Arg633=) c.2608C= (p.Arg870=) c.1834C= (p.Arg612=) c.1801C= (p.Arg601=) n.2835C= c.2014C= (p.Arg672=) n.2829C= | |
X | g.53248184G>T | CA516428222 | IQSEC2 | c.2671C>A (p.Arg891=) c.464C>A c.2512C>A (p.Arg838=) n.263C>A c.2482C>A (p.Arg828=) c.1897C>A (p.Arg633=) c.2608C>A (p.Arg870=) c.1834C>A (p.Arg612=) c.1801C>A (p.Arg601=) n.2835C>A c.2014C>A (p.Arg672=) n.2829C>A | |
X | g.53248185G>A | CA516428224 | IQSEC2 | c.2670C>T (p.Leu890=) c.463C>T c.2511C>T (p.Leu837=) n.262C>T c.2481C>T (p.Leu827=) c.1896C>T (p.Leu632=) c.2607C>T (p.Leu869=) c.1833C>T (p.Leu611=) c.1800C>T (p.Leu600=) n.2834C>T c.2013C>T (p.Leu671=) n.2828C>T | |
X | g.53248185G>C | CA516428225 | IQSEC2 | c.2670C>G (p.Leu890=) c.463C>G c.2511C>G (p.Leu837=) n.262C>G c.2481C>G (p.Leu827=) c.1896C>G (p.Leu632=) c.2607C>G (p.Leu869=) c.1833C>G (p.Leu611=) c.1800C>G (p.Leu600=) n.2834C>G c.2013C>G (p.Leu671=) n.2828C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.53248185G= | CA2429774930 | IQSEC2 | c.2670C= (p.Leu890=) c.463C= c.2511C= (p.Leu837=) n.262C= c.2481C= (p.Leu827=) c.1896C= (p.Leu632=) c.2607C= (p.Leu869=) c.1833C= (p.Leu611=) c.1800C= (p.Leu600=) n.2834C= c.2013C= (p.Leu671=) n.2828C= | |
X | g.53248185G>T | CA516428226 | IQSEC2 | c.2670C>A (p.Leu890=) c.463C>A c.2511C>A (p.Leu837=) n.262C>A c.2481C>A (p.Leu827=) c.1896C>A (p.Leu632=) c.2607C>A (p.Leu869=) c.1833C>A (p.Leu611=) c.1800C>A (p.Leu600=) n.2834C>A c.2013C>A (p.Leu671=) n.2828C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53248186A>C | CA413157165 | IQSEC2 | c.2669T>G (p.Leu890Arg) c.462T>G c.2510T>G (p.Leu837Arg) n.261T>G c.2480T>G (p.Leu827Arg) c.1895T>G (p.Leu632Arg) c.2606T>G (p.Leu869Arg) c.1832T>G (p.Leu611Arg) c.1799T>G (p.Leu600Arg) n.2833T>G c.2012T>G (p.Leu671Arg) n.2827T>G | |
X | g.53248186A>G | CA413157166 | IQSEC2 | c.2669T>C (p.Leu890Pro) c.462T>C c.2510T>C (p.Leu837Pro) n.261T>C c.2480T>C (p.Leu827Pro) c.1895T>C (p.Leu632Pro) c.2606T>C (p.Leu869Pro) c.1832T>C (p.Leu611Pro) c.1799T>C (p.Leu600Pro) n.2833T>C c.2012T>C (p.Leu671Pro) n.2827T>C | |
X | g.53248186A>T | CA413157169 | IQSEC2 | c.2669T>A (p.Leu890His) c.462T>A c.2510T>A (p.Leu837His) n.261T>A c.2480T>A (p.Leu827His) c.1895T>A (p.Leu632His) c.2606T>A (p.Leu869His) c.1832T>A (p.Leu611His) c.1799T>A (p.Leu600His) n.2833T>A c.2012T>A (p.Leu671His) n.2827T>A | |
X | g.53248187G>A | CA413157173 | IQSEC2 | c.2668C>T (p.Leu890Phe) c.461C>T c.2509C>T (p.Leu837Phe) n.260C>T c.2479C>T (p.Leu827Phe) c.1894C>T (p.Leu632Phe) c.2605C>T (p.Leu869Phe) c.1831C>T (p.Leu611Phe) c.1798C>T (p.Leu600Phe) n.2832C>T c.2011C>T (p.Leu671Phe) n.2826C>T | |
X | g.53248187G>C | CA413157175 | IQSEC2 | c.2668C>G (p.Leu890Val) c.461C>G c.2509C>G (p.Leu837Val) n.260C>G c.2479C>G (p.Leu827Val) c.1894C>G (p.Leu632Val) c.2605C>G (p.Leu869Val) c.1831C>G (p.Leu611Val) c.1798C>G (p.Leu600Val) n.2832C>G c.2011C>G (p.Leu671Val) n.2826C>G | |
X | g.53248187G>T | CA413157178 | IQSEC2 | c.2668C>A (p.Leu890Ile) c.461C>A c.2509C>A (p.Leu837Ile) n.260C>A c.2479C>A (p.Leu827Ile) c.1894C>A (p.Leu632Ile) c.2605C>A (p.Leu869Ile) c.1831C>A (p.Leu611Ile) c.1798C>A (p.Leu600Ile) n.2832C>A c.2011C>A (p.Leu671Ile) n.2826C>A | |
X | g.53248188C>A | CA516428232 | IQSEC2 | c.2667G>T (p.Ala889=) c.460G>T c.2508G>T (p.Ala836=) n.259G>T c.2478G>T (p.Ala826=) c.1893G>T (p.Ala631=) c.2604G>T (p.Ala868=) c.1830G>T (p.Ala610=) c.1797G>T (p.Ala599=) n.2831G>T c.2010G>T (p.Ala670=) n.2825G>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53248188C= | CA2429774931 | IQSEC2 | c.2667G= (p.Ala889=) c.460G= c.2508G= (p.Ala836=) n.259G= c.2478G= (p.Ala826=) c.1893G= (p.Ala631=) c.2604G= (p.Ala868=) c.1830G= (p.Ala610=) c.1797G= (p.Ala599=) n.2831G= c.2010G= (p.Ala670=) n.2825G= | |
X | g.53248188C>G | CA10419928 | IQSEC2 | c.2667G>C (p.Ala889=) c.460G>C c.2508G>C (p.Ala836=) n.259G>C c.2478G>C (p.Ala826=) c.1893G>C (p.Ala631=) c.2604G>C (p.Ala868=) c.1830G>C (p.Ala610=) c.1797G>C (p.Ala599=) n.2831G>C c.2010G>C (p.Ala670=) n.2825G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53248188C>T | CA10419927 | IQSEC2 | c.2667G>A (p.Ala889=) c.460G>A c.2508G>A (p.Ala836=) n.259G>A c.2478G>A (p.Ala826=) c.1893G>A (p.Ala631=) c.2604G>A (p.Ala868=) c.1830G>A (p.Ala610=) c.1797G>A (p.Ala599=) n.2831G>A c.2010G>A (p.Ala670=) n.2825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53248189G>A | CA10419929 | IQSEC2 | c.2666C>T (p.Ala889Val) c.459C>T c.2507C>T (p.Ala836Val) n.258C>T c.2477C>T (p.Ala826Val) c.1892C>T (p.Ala631Val) c.2603C>T (p.Ala868Val) c.1829C>T (p.Ala610Val) c.1796C>T (p.Ala599Val) n.2830C>T c.2009C>T (p.Ala670Val) n.2824C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53248189G>C | CA413157186 | IQSEC2 | c.2666C>G (p.Ala889Gly) c.459C>G c.2507C>G (p.Ala836Gly) n.258C>G c.2477C>G (p.Ala826Gly) c.1892C>G (p.Ala631Gly) c.2603C>G (p.Ala868Gly) c.1829C>G (p.Ala610Gly) c.1796C>G (p.Ala599Gly) n.2830C>G c.2009C>G (p.Ala670Gly) n.2824C>G | |
X | g.53248189G= | CA2429774932 | IQSEC2 | c.2666C= (p.Ala889=) c.459C= c.2507C= (p.Ala836=) n.258C= c.2477C= (p.Ala826=) c.1892C= (p.Ala631=) c.2603C= (p.Ala868=) c.1829C= (p.Ala610=) c.1796C= (p.Ala599=) n.2830C= c.2009C= (p.Ala670=) n.2824C= | |
X | g.53248189G>T | CA413157183 | IQSEC2 | c.2666C>A (p.Ala889Glu) c.459C>A c.2507C>A (p.Ala836Glu) n.258C>A c.2477C>A (p.Ala826Glu) c.1892C>A (p.Ala631Glu) c.2603C>A (p.Ala868Glu) c.1829C>A (p.Ala610Glu) c.1796C>A (p.Ala599Glu) n.2830C>A c.2009C>A (p.Ala670Glu) n.2824C>A | |
X | g.53248190C>A | CA413157189 | IQSEC2 | c.2665G>T (p.Ala889Ser) c.458G>T c.2506G>T (p.Ala836Ser) n.257G>T c.2476G>T (p.Ala826Ser) c.1891G>T (p.Ala631Ser) c.2602G>T (p.Ala868Ser) c.1828G>T (p.Ala610Ser) c.1795G>T (p.Ala599Ser) n.2829G>T c.2008G>T (p.Ala670Ser) n.2823G>T | |
X | g.53248190C>G | CA413157192 | IQSEC2 | c.2665G>C (p.Ala889Pro) c.458G>C c.2506G>C (p.Ala836Pro) n.257G>C c.2476G>C (p.Ala826Pro) c.1891G>C (p.Ala631Pro) c.2602G>C (p.Ala868Pro) c.1828G>C (p.Ala610Pro) c.1795G>C (p.Ala599Pro) n.2829G>C c.2008G>C (p.Ala670Pro) n.2823G>C | |
X | g.53248190C>T | CA413157194 | IQSEC2 | c.2665G>A (p.Ala889Thr) c.458G>A c.2506G>A (p.Ala836Thr) n.257G>A c.2476G>A (p.Ala826Thr) c.1891G>A (p.Ala631Thr) c.2602G>A (p.Ala868Thr) c.1828G>A (p.Ala610Thr) c.1795G>A (p.Ala599Thr) n.2829G>A c.2008G>A (p.Ala670Thr) n.2823G>A | |
X | g.53248191A>C | CA413157197 | IQSEC2 | c.2664T>G (p.Asp888Glu) c.457T>G c.2505T>G (p.Asp835Glu) n.256T>G c.2475T>G (p.Asp825Glu) c.1890T>G (p.Asp630Glu) c.2601T>G (p.Asp867Glu) c.1827T>G (p.Asp609Glu) c.1794T>G (p.Asp598Glu) n.2828T>G c.2007T>G (p.Asp669Glu) n.2822T>G | |
X | g.53248191A>G | CA516428242 | IQSEC2 | c.2664T>C (p.Asp888=) c.457T>C c.2505T>C (p.Asp835=) n.256T>C c.2475T>C (p.Asp825=) c.1890T>C (p.Asp630=) c.2601T>C (p.Asp867=) c.1827T>C (p.Asp609=) c.1794T>C (p.Asp598=) n.2828T>C c.2007T>C (p.Asp669=) n.2822T>C | |
X | g.53248191A>T | CA413157199 | IQSEC2 | c.2664T>A (p.Asp888Glu) c.457T>A c.2505T>A (p.Asp835Glu) n.256T>A c.2475T>A (p.Asp825Glu) c.1890T>A (p.Asp630Glu) c.2601T>A (p.Asp867Glu) c.1827T>A (p.Asp609Glu) c.1794T>A (p.Asp598Glu) n.2828T>A c.2007T>A (p.Asp669Glu) n.2822T>A | |
X | g.53248192T>A | CA413157206 | IQSEC2 | c.2663A>T (p.Asp888Val) c.456A>T c.2504A>T (p.Asp835Val) n.255A>T c.2474A>T (p.Asp825Val) c.1889A>T (p.Asp630Val) c.2600A>T (p.Asp867Val) c.1826A>T (p.Asp609Val) c.1793A>T (p.Asp598Val) n.2827A>T c.2006A>T (p.Asp669Val) n.2821A>T | |
X | g.53248192T>C | CA413157202 | IQSEC2 | c.2663A>G (p.Asp888Gly) c.456A>G c.2504A>G (p.Asp835Gly) n.255A>G c.2474A>G (p.Asp825Gly) c.1889A>G (p.Asp630Gly) c.2600A>G (p.Asp867Gly) c.1826A>G (p.Asp609Gly) c.1793A>G (p.Asp598Gly) n.2827A>G c.2006A>G (p.Asp669Gly) n.2821A>G | |
X | g.53248192T>G | CA413157204 | IQSEC2 | c.2663A>C (p.Asp888Ala) c.456A>C c.2504A>C (p.Asp835Ala) n.255A>C c.2474A>C (p.Asp825Ala) c.1889A>C (p.Asp630Ala) c.2600A>C (p.Asp867Ala) c.1826A>C (p.Asp609Ala) c.1793A>C (p.Asp598Ala) n.2827A>C c.2006A>C (p.Asp669Ala) n.2821A>C | |
X | g.53248193C>A | CA413157210 | IQSEC2 | c.2662G>T (p.Asp888Tyr) c.455G>T c.2503G>T (p.Asp835Tyr) n.254G>T c.2473G>T (p.Asp825Tyr) c.1888G>T (p.Asp630Tyr) c.2599G>T (p.Asp867Tyr) c.1825G>T (p.Asp609Tyr) c.1792G>T (p.Asp598Tyr) n.2826G>T c.2005G>T (p.Asp669Tyr) n.2820G>T | |
X | g.53248193C>G | CA413157211 | IQSEC2 | c.2662G>C (p.Asp888His) c.455G>C c.2503G>C (p.Asp835His) n.254G>C c.2473G>C (p.Asp825His) c.1888G>C (p.Asp630His) c.2599G>C (p.Asp867His) c.1825G>C (p.Asp609His) c.1792G>C (p.Asp598His) n.2826G>C c.2005G>C (p.Asp669His) n.2820G>C | |
X | g.53248193C>T | CA413157214 | IQSEC2 | c.2662G>A (p.Asp888Asn) c.455G>A c.2503G>A (p.Asp835Asn) n.254G>A c.2473G>A (p.Asp825Asn) c.1888G>A (p.Asp630Asn) c.2599G>A (p.Asp867Asn) c.1825G>A (p.Asp609Asn) c.1792G>A (p.Asp598Asn) n.2826G>A c.2005G>A (p.Asp669Asn) n.2820G>A | |
X | g.53248194A>C | CA413157216 | IQSEC2 | c.2661T>G (p.Asp887Glu) c.454T>G c.2502T>G (p.Asp834Glu) n.253T>G c.2472T>G (p.Asp824Glu) c.1887T>G (p.Asp629Glu) c.2598T>G (p.Asp866Glu) c.1824T>G (p.Asp608Glu) c.1791T>G (p.Asp597Glu) n.2825T>G c.2004T>G (p.Asp668Glu) n.2819T>G | |
X | g.53248194A>G | CA516428247 | IQSEC2 | c.2661T>C (p.Asp887=) c.454T>C c.2502T>C (p.Asp834=) n.253T>C c.2472T>C (p.Asp824=) c.1887T>C (p.Asp629=) c.2598T>C (p.Asp866=) c.1824T>C (p.Asp608=) c.1791T>C (p.Asp597=) n.2825T>C c.2004T>C (p.Asp668=) n.2819T>C | |
X | g.53248194A>T | CA413157219 | IQSEC2 | c.2661T>A (p.Asp887Glu) c.454T>A c.2502T>A (p.Asp834Glu) n.253T>A c.2472T>A (p.Asp824Glu) c.1887T>A (p.Asp629Glu) c.2598T>A (p.Asp866Glu) c.1824T>A (p.Asp608Glu) c.1791T>A (p.Asp597Glu) n.2825T>A c.2004T>A (p.Asp668Glu) n.2819T>A | |
X | g.53248195T>A | CA329165561 | IQSEC2 | c.2660A>T (p.Asp887Val) c.453A>T c.2501A>T (p.Asp834Val) n.252A>T c.2471A>T (p.Asp824Val) c.1886A>T (p.Asp629Val) c.2597A>T (p.Asp866Val) c.1823A>T (p.Asp608Val) c.1790A>T (p.Asp597Val) n.2824A>T c.2003A>T (p.Asp668Val) n.2818A>T | dbSNP gnomAD v4 |
X | g.53248195T>C | CA413157225 | IQSEC2 | c.2660A>G (p.Asp887Gly) c.453A>G c.2501A>G (p.Asp834Gly) n.252A>G c.2471A>G (p.Asp824Gly) c.1886A>G (p.Asp629Gly) c.2597A>G (p.Asp866Gly) c.1823A>G (p.Asp608Gly) c.1790A>G (p.Asp597Gly) n.2824A>G c.2003A>G (p.Asp668Gly) n.2818A>G | |
X | g.53248195T>G | CA413157223 | IQSEC2 | c.2660A>C (p.Asp887Ala) c.453A>C c.2501A>C (p.Asp834Ala) n.252A>C c.2471A>C (p.Asp824Ala) c.1886A>C (p.Asp629Ala) c.2597A>C (p.Asp866Ala) c.1823A>C (p.Asp608Ala) c.1790A>C (p.Asp597Ala) n.2824A>C c.2003A>C (p.Asp668Ala) n.2818A>C | |
X | g.53248195T= | CA2429774933 | IQSEC2 | c.2660A= (p.Asp887=) c.453A= c.2501A= (p.Asp834=) n.252A= c.2471A= (p.Asp824=) c.1886A= (p.Asp629=) c.2597A= (p.Asp866=) c.1823A= (p.Asp608=) c.1790A= (p.Asp597=) n.2824A= c.2003A= (p.Asp668=) n.2818A= | |
X | g.53248196C>A | CA413157229 | IQSEC2 | c.2659G>T (p.Asp887Tyr) c.452G>T c.2500G>T (p.Asp834Tyr) n.251G>T c.2470G>T (p.Asp824Tyr) c.1885G>T (p.Asp629Tyr) c.2596G>T (p.Asp866Tyr) c.1822G>T (p.Asp608Tyr) c.1789G>T (p.Asp597Tyr) n.2823G>T c.2002G>T (p.Asp668Tyr) n.2817G>T | |
X | g.53248196C>G | CA413157232 | IQSEC2 | c.2659G>C (p.Asp887His) c.452G>C c.2500G>C (p.Asp834His) n.251G>C c.2470G>C (p.Asp824His) c.1885G>C (p.Asp629His) c.2596G>C (p.Asp866His) c.1822G>C (p.Asp608His) c.1789G>C (p.Asp597His) n.2823G>C c.2002G>C (p.Asp668His) n.2817G>C | |
X | g.53248196C>T | CA413157234 | IQSEC2 | c.2659G>A (p.Asp887Asn) c.452G>A c.2500G>A (p.Asp834Asn) n.251G>A c.2470G>A (p.Asp824Asn) c.1885G>A (p.Asp629Asn) c.2596G>A (p.Asp866Asn) c.1822G>A (p.Asp608Asn) c.1789G>A (p.Asp597Asn) n.2823G>A c.2002G>A (p.Asp668Asn) n.2817G>A | |
X | g.53248197C>A | CA516428256 | IQSEC2 | c.2658G>T (p.Leu886=) c.451G>T c.2499G>T (p.Leu833=) n.250G>T c.2469G>T (p.Leu823=) c.1884G>T (p.Leu628=) c.2595G>T (p.Leu865=) c.1821G>T (p.Leu607=) c.1788G>T (p.Leu596=) n.2822G>T c.2001G>T (p.Leu667=) n.2816G>T | |
X | g.53248197C>G | CA516428254 | IQSEC2 | c.2658G>C (p.Leu886=) c.451G>C c.2499G>C (p.Leu833=) n.250G>C c.2469G>C (p.Leu823=) c.1884G>C (p.Leu628=) c.2595G>C (p.Leu865=) c.1821G>C (p.Leu607=) c.1788G>C (p.Leu596=) n.2822G>C c.2001G>C (p.Leu667=) n.2816G>C | |
X | g.53248197C>T | CA516428253 | IQSEC2 | c.2658G>A (p.Leu886=) c.451G>A c.2499G>A (p.Leu833=) n.250G>A c.2469G>A (p.Leu823=) c.1884G>A (p.Leu628=) c.2595G>A (p.Leu865=) c.1821G>A (p.Leu607=) c.1788G>A (p.Leu596=) n.2822G>A c.2001G>A (p.Leu667=) n.2816G>A | |
X | g.53248198A>C | CA413157237 | IQSEC2 | c.2657T>G (p.Leu886Arg) c.450T>G c.2498T>G (p.Leu833Arg) n.249T>G c.2468T>G (p.Leu823Arg) c.1883T>G (p.Leu628Arg) c.2594T>G (p.Leu865Arg) c.1820T>G (p.Leu607Arg) c.1787T>G (p.Leu596Arg) n.2821T>G c.2000T>G (p.Leu667Arg) n.2815T>G | |
X | g.53248198A>G | CA413157238 | IQSEC2 | c.2657T>C (p.Leu886Pro) c.450T>C c.2498T>C (p.Leu833Pro) n.249T>C c.2468T>C (p.Leu823Pro) c.1883T>C (p.Leu628Pro) c.2594T>C (p.Leu865Pro) c.1820T>C (p.Leu607Pro) c.1787T>C (p.Leu596Pro) n.2821T>C c.2000T>C (p.Leu667Pro) n.2815T>C | |
X | g.53248198A>T | CA413157239 | IQSEC2 | c.2657T>A (p.Leu886Gln) c.450T>A c.2498T>A (p.Leu833Gln) n.249T>A c.2468T>A (p.Leu823Gln) c.1883T>A (p.Leu628Gln) c.2594T>A (p.Leu865Gln) c.1820T>A (p.Leu607Gln) c.1787T>A (p.Leu596Gln) n.2821T>A c.2000T>A (p.Leu667Gln) n.2815T>A | |
X | g.53248199G>A | CA516428259 | IQSEC2 | c.2656C>T (p.Leu886=) c.449C>T c.2497C>T (p.Leu833=) n.248C>T c.2467C>T (p.Leu823=) c.1882C>T (p.Leu628=) c.2593C>T (p.Leu865=) c.1819C>T (p.Leu607=) c.1786C>T (p.Leu596=) n.2820C>T c.1999C>T (p.Leu667=) n.2814C>T | |
X | g.53248199G>C | CA413157242 | IQSEC2 | c.2656C>G (p.Leu886Val) c.449C>G c.2497C>G (p.Leu833Val) n.248C>G c.2467C>G (p.Leu823Val) c.1882C>G (p.Leu628Val) c.2593C>G (p.Leu865Val) c.1819C>G (p.Leu607Val) c.1786C>G (p.Leu596Val) n.2820C>G c.1999C>G (p.Leu667Val) n.2814C>G | |
X | g.53248199G>T | CA413157244 | IQSEC2 | c.2656C>A (p.Leu886Met) c.449C>A c.2497C>A (p.Leu833Met) n.248C>A c.2467C>A (p.Leu823Met) c.1882C>A (p.Leu628Met) c.2593C>A (p.Leu865Met) c.1819C>A (p.Leu607Met) c.1786C>A (p.Leu596Met) n.2820C>A c.1999C>A (p.Leu667Met) n.2814C>A | |
X | g.53248200A>C | CA413157246 | IQSEC2 | c.2655T>G (p.Asp885Glu) c.448T>G c.2496T>G (p.Asp832Glu) n.247T>G c.2466T>G (p.Asp822Glu) c.1881T>G (p.Asp627Glu) c.2592T>G (p.Asp864Glu) c.1818T>G (p.Asp606Glu) c.1785T>G (p.Asp595Glu) n.2819T>G c.1998T>G (p.Asp666Glu) n.2813T>G | |
X | g.53248200A>G | CA516428263 | IQSEC2 | c.2655T>C (p.Asp885=) c.448T>C c.2496T>C (p.Asp832=) n.247T>C c.2466T>C (p.Asp822=) c.1881T>C (p.Asp627=) c.2592T>C (p.Asp864=) c.1818T>C (p.Asp606=) c.1785T>C (p.Asp595=) n.2819T>C c.1998T>C (p.Asp666=) n.2813T>C | |
X | g.53248200A>T | CA413157249 | IQSEC2 | c.2655T>A (p.Asp885Glu) c.448T>A c.2496T>A (p.Asp832Glu) n.247T>A c.2466T>A (p.Asp822Glu) c.1881T>A (p.Asp627Glu) c.2592T>A (p.Asp864Glu) c.1818T>A (p.Asp606Glu) c.1785T>A (p.Asp595Glu) n.2819T>A c.1998T>A (p.Asp666Glu) n.2813T>A |