| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30737370C>A | CA494910656 | SRCAP | c.7330C>A (p.Arg2444=) c.1593+17C>A c.6799C>A (p.Arg2267=) c.6553C>A (p.Arg2185=) | |
| 16 | g.30737370C= | CA2216733594 | SRCAP | c.7330C= (p.Arg2444=) c.1593+17C= c.6799C= (p.Arg2267=) c.6553C= (p.Arg2185=) | |
| 16 | g.30737370C>G | CA395632582 | SRCAP | c.7330C>G (p.Arg2444Gly) c.1593+17C>G c.6799C>G (p.Arg2267Gly) c.6553C>G (p.Arg2185Gly) | |
| 16 | g.30737370C>T | CA342761 | SRCAP | c.7330C>T (p.Arg2444Ter) c.1593+17C>T c.6799C>T (p.Arg2267Ter) c.6553C>T (p.Arg2185Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.30737371G>A | CA8012462 | SRCAP | c.7331G>A (p.Arg2444Gln) c.1593+18G>A c.6800G>A (p.Arg2267Gln) c.6554G>A (p.Arg2185Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737371G>C | CA395632584 | SRCAP | c.7331G>C (p.Arg2444Pro) c.1593+18G>C c.6800G>C (p.Arg2267Pro) c.6554G>C (p.Arg2185Pro) | |
| 16 | g.30737371G= | CA2216733601 | SRCAP | c.7331G= (p.Arg2444=) c.1593+18G= c.6800G= (p.Arg2267=) c.6554G= (p.Arg2185=) | |
| 16 | g.30737371G>T | CA395632583 | SRCAP | c.7331G>T (p.Arg2444Leu) c.1593+18G>T c.6800G>T (p.Arg2267Leu) c.6554G>T (p.Arg2185Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737372A>C | CA494910660 | SRCAP | c.7332A>C (p.Arg2444=) c.1593+19A>C c.6801A>C (p.Arg2267=) c.6555A>C (p.Arg2185=) | |
| 16 | g.30737372A>G | CA494910661 | SRCAP | c.7332A>G (p.Arg2444=) c.1593+19A>G c.6801A>G (p.Arg2267=) c.6555A>G (p.Arg2185=) | COSMIC |
| 16 | g.30737372A>T | CA494910662 | SRCAP | c.7332A>T (p.Arg2444=) c.1593+19A>T c.6801A>T (p.Arg2267=) c.6555A>T (p.Arg2185=) | |
| 16 | g.30737373C>A | CA395632585 | SRCAP | c.7333C>A (p.Pro2445Thr) c.1593+20C>A c.6802C>A (p.Pro2268Thr) c.6556C>A (p.Pro2186Thr) | |
| 16 | g.30737373C>G | CA395632586 | SRCAP | c.7333C>G (p.Pro2445Ala) c.1593+20C>G c.6802C>G (p.Pro2268Ala) c.6556C>G (p.Pro2186Ala) | |
| 16 | g.30737373C>T | CA395632587 | SRCAP | c.7333C>T (p.Pro2445Ser) c.1593+20C>T c.6802C>T (p.Pro2268Ser) c.6556C>T (p.Pro2186Ser) | |
| 16 | g.30737374C>A | CA395632588 | SRCAP | c.7334C>A (p.Pro2445His) c.1593+21C>A c.6803C>A (p.Pro2268His) c.6557C>A (p.Pro2186His) | gnomAD v4 |
| 16 | g.30737374C= | CA2216733606 | SRCAP | c.7334C= (p.Pro2445=) c.1593+21C= c.6803C= (p.Pro2268=) c.6557C= (p.Pro2186=) | |
| 16 | g.30737374C>G | CA395632589 | SRCAP | c.7334C>G (p.Pro2445Arg) c.1593+21C>G c.6803C>G (p.Pro2268Arg) c.6557C>G (p.Pro2186Arg) | |
| 16 | g.30737374C>T | CA8012463 | SRCAP | c.7334C>T (p.Pro2445Leu) c.1593+21C>T c.6803C>T (p.Pro2268Leu) c.6557C>T (p.Pro2186Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.30737375C>A | CA494910664 | SRCAP | c.7335C>A (p.Pro2445=) c.1593+22C>A c.6804C>A (p.Pro2268=) c.6558C>A (p.Pro2186=) | |
| 16 | g.30737375C= | CA2216733609 | SRCAP | c.7335C= (p.Pro2445=) c.1593+22C= c.6804C= (p.Pro2268=) c.6558C= (p.Pro2186=) | |
| 16 | g.30737375C>G | CA494910665 | SRCAP | c.7335C>G (p.Pro2445=) c.1593+22C>G c.6804C>G (p.Pro2268=) c.6558C>G (p.Pro2186=) | |
| 16 | g.30737375C>T | CA494910666 | SRCAP | c.7335C>T (p.Pro2445=) c.1593+22C>T c.6804C>T (p.Pro2268=) c.6558C>T (p.Pro2186=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30737376A= | CA2216733612 | SRCAP | c.7336A= (p.Thr2446=) c.1593+23A= c.6805A= (p.Thr2269=) c.6559A= (p.Thr2187=) | |
| 16 | g.30737376A>C | CA395632590 | SRCAP | c.7336A>C (p.Thr2446Pro) c.1593+23A>C c.6805A>C (p.Thr2269Pro) c.6559A>C (p.Thr2187Pro) | |
| 16 | g.30737376A>G | CA8012464 | SRCAP | c.7336A>G (p.Thr2446Ala) c.1593+23A>G c.6805A>G (p.Thr2269Ala) c.6559A>G (p.Thr2187Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737376A>T | CA395632591 | SRCAP | c.7336A>T (p.Thr2446Ser) c.1593+23A>T c.6805A>T (p.Thr2269Ser) c.6559A>T (p.Thr2187Ser) | |
| 16 | g.30737377C>A | CA395632592 | SRCAP | c.7337C>A (p.Thr2446Asn) c.1593+24C>A c.6806C>A (p.Thr2269Asn) c.6560C>A (p.Thr2187Asn) | |
| 16 | g.30737377C>G | CA395632593 | SRCAP | c.7337C>G (p.Thr2446Ser) c.1593+24C>G c.6806C>G (p.Thr2269Ser) c.6560C>G (p.Thr2187Ser) | |
| 16 | g.30737377C>T | CA395632594 | SRCAP | c.7337C>T (p.Thr2446Ile) c.1593+24C>T c.6806C>T (p.Thr2269Ile) c.6560C>T (p.Thr2187Ile) | |
| 16 | g.30737378T>A | CA494910671 | SRCAP | c.7338T>A (p.Thr2446=) c.1593+25T>A c.6807T>A (p.Thr2269=) c.6561T>A (p.Thr2187=) | |
| 16 | g.30737378T>C | CA494910670 | SRCAP | c.7338T>C (p.Thr2446=) c.1593+25T>C c.6807T>C (p.Thr2269=) c.6561T>C (p.Thr2187=) | |
| 16 | g.30737378T>G | CA494910669 | SRCAP | c.7338T>G (p.Thr2446=) c.1593+25T>G c.6807T>G (p.Thr2269=) c.6561T>G (p.Thr2187=) | |
| 16 | g.30737379C>A | CA395632596 | SRCAP | c.7339C>A (p.Pro2447Thr) c.1593+26C>A c.6808C>A (p.Pro2270Thr) c.6562C>A (p.Pro2188Thr) | |
| 16 | g.30737379C>G | CA395632597 | SRCAP | c.7339C>G (p.Pro2447Ala) c.1593+26C>G c.6808C>G (p.Pro2270Ala) c.6562C>G (p.Pro2188Ala) | |
| 16 | g.30737379C>T | CA395632595 | SRCAP | c.7339C>T (p.Pro2447Ser) c.1593+26C>T c.6808C>T (p.Pro2270Ser) c.6562C>T (p.Pro2188Ser) | |
| 16 | g.30737380C>A | CA395632598 | SRCAP | c.7340C>A (p.Pro2447Gln) c.1593+27C>A c.6809C>A (p.Pro2270Gln) c.6563C>A (p.Pro2188Gln) | |
| 16 | g.30737380C>G | CA395632599 | SRCAP | c.7340C>G (p.Pro2447Arg) c.1593+27C>G c.6809C>G (p.Pro2270Arg) c.6563C>G (p.Pro2188Arg) | |
| 16 | g.30737380C>T | CA395632600 | SRCAP | c.7340C>T (p.Pro2447Leu) c.1593+27C>T c.6809C>T (p.Pro2270Leu) c.6563C>T (p.Pro2188Leu) | |
| 16 | g.30737381A= | CA2216733615 | SRCAP | c.7341A= (p.Pro2447=) c.1593+28A= c.6810A= (p.Pro2270=) c.6564A= (p.Pro2188=) | |
| 16 | g.30737381A>C | CA494910675 | SRCAP | c.7341A>C (p.Pro2447=) c.1593+28A>C c.6810A>C (p.Pro2270=) c.6564A>C (p.Pro2188=) | |
| 16 | g.30737381A>G | CA494910676 | SRCAP | c.7341A>G (p.Pro2447=) c.1593+28A>G c.6810A>G (p.Pro2270=) c.6564A>G (p.Pro2188=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737381A>T | CA494910677 | SRCAP | c.7341A>T (p.Pro2447=) c.1593+28A>T c.6810A>T (p.Pro2270=) c.6564A>T (p.Pro2188=) | |
| 16 | g.30737382G>A | CA280523803 | SRCAP | c.7342G>A (p.Ala2448Thr) c.1593+29G>A c.6811G>A (p.Ala2271Thr) c.6565G>A (p.Ala2189Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737382G>C | CA395632601 | SRCAP | c.7342G>C (p.Ala2448Pro) c.1593+29G>C c.6811G>C (p.Ala2271Pro) c.6565G>C (p.Ala2189Pro) | gnomAD v4 |
| 16 | g.30737382G= | CA2216733621 | SRCAP | c.7342G= (p.Ala2448=) c.1593+29G= c.6811G= (p.Ala2271=) c.6565G= (p.Ala2189=) | |
| 16 | g.30737382G>T | CA395632602 | SRCAP | c.7342G>T (p.Ala2448Ser) c.1593+29G>T c.6811G>T (p.Ala2271Ser) c.6565G>T (p.Ala2189Ser) | |
| 16 | g.30737383C>A | CA395632604 | SRCAP | c.7343C>A (p.Ala2448Asp) c.1593+30C>A c.6812C>A (p.Ala2271Asp) c.6566C>A (p.Ala2189Asp) | |
| 16 | g.30737383C= | CA2216733627 | SRCAP | c.7343C= (p.Ala2448=) c.1593+30C= c.6812C= (p.Ala2271=) c.6566C= (p.Ala2189=) | |
| 16 | g.30737383C>G | CA395632603 | SRCAP | c.7343C>G (p.Ala2448Gly) c.1593+30C>G c.6812C>G (p.Ala2271Gly) c.6566C>G (p.Ala2189Gly) | |
| 16 | g.30737383C>T | CA280523806 | SRCAP | c.7343C>T (p.Ala2448Val) c.1593+30C>T c.6812C>T (p.Ala2271Val) c.6566C>T (p.Ala2189Val) | dbSNP gnomAD v4 |