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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150541651G>A | CA174008 | NDST1 | c.1831G>A (p.Gly611Ser) c.559G>A (p.Gly187Ser) c.844G>A (p.Gly282Ser) n.2309G>A n.2339G>A n.2928G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150541651G>C | CA361768343 | NDST1 | c.1831G>C (p.Gly611Arg) c.559G>C (p.Gly187Arg) c.844G>C (p.Gly282Arg) n.2309G>C n.2339G>C n.2928G>C | |
| 5 | g.150541651G= | CA1590995864 | NDST1 | c.1831G= (p.Gly611=) c.559G= (p.Gly187=) c.844G= (p.Gly282=) n.2309G= n.2339G= n.2928G= | |
| 5 | g.150541651G>T | CA361768344 | NDST1 | c.1831G>T (p.Gly611Cys) c.559G>T (p.Gly187Cys) c.844G>T (p.Gly282Cys) n.2309G>T n.2339G>T n.2928G>T | |
| 5 | g.150541652G>A | CA361768345 | NDST1 | c.1832G>A (p.Gly611Asp) c.560G>A (p.Gly187Asp) c.845G>A (p.Gly282Asp) n.2310G>A n.2340G>A n.2929G>A | |
| 5 | g.150541652G>C | CA361768346 | NDST1 | c.1832G>C (p.Gly611Ala) c.560G>C (p.Gly187Ala) c.845G>C (p.Gly282Ala) n.2310G>C n.2340G>C n.2929G>C | |
| 5 | g.150541652G>T | CA361768347 | NDST1 | c.1832G>T (p.Gly611Val) c.560G>T (p.Gly187Val) c.845G>T (p.Gly282Val) n.2310G>T n.2340G>T n.2929G>T | |
| 5 | g.150541653C>A | CA447164197 | NDST1 | c.1833C>A (p.Gly611=) c.561C>A (p.Gly187=) c.846C>A (p.Gly282=) n.2311C>A n.2341C>A n.2930C>A | |
| 5 | g.150541653C= | CA1590995865 | NDST1 | c.1833C= (p.Gly611=) c.561C= (p.Gly187=) c.846C= (p.Gly282=) n.2311C= n.2341C= n.2930C= | |
| 5 | g.150541653C>G | CA447164199 | NDST1 | c.1833C>G (p.Gly611=) c.561C>G (p.Gly187=) c.846C>G (p.Gly282=) n.2311C>G n.2341C>G n.2930C>G | |
| 5 | g.150541653C>T | CA447164200 | NDST1 | c.1833C>T (p.Gly611=) c.561C>T (p.Gly187=) c.846C>T (p.Gly282=) n.2311C>T n.2341C>T n.2930C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150541657dup | CA2832534461 | NDST1 | c.1837dup (p.Gln613ProfsTer17) c.565dup (p.Gln189ProfsTer17) c.850dup (p.Gln284ProfsTer17) n.2315dup n.2345dup n.2934dup | |
| 5 | g.150541657del | CA2768894810 | NDST1 | c.1837del (p.Gln613ArgfsTer18) c.565del (p.Gln189ArgfsTer18) c.850del (p.Gln284ArgfsTer18) n.2315del n.2345del n.2934del | |
| 5 | g.150541654C>A | CA361768348 | NDST1 | c.1834C>A (p.Pro612Thr) c.562C>A (p.Pro188Thr) c.847C>A (p.Pro283Thr) n.2312C>A n.2342C>A n.2931C>A | |
| 5 | g.150541654C>G | CA361768349 | NDST1 | c.1834C>G (p.Pro612Ala) c.562C>G (p.Pro188Ala) c.847C>G (p.Pro283Ala) n.2312C>G n.2342C>G n.2931C>G | |
| 5 | g.150541654C>T | CA361768350 | NDST1 | c.1834C>T (p.Pro612Ser) c.562C>T (p.Pro188Ser) c.847C>T (p.Pro283Ser) n.2312C>T n.2342C>T n.2931C>T | |
| 5 | g.150541655C>A | CA361768352 | NDST1 | c.1835C>A (p.Pro612His) c.563C>A (p.Pro188His) c.848C>A (p.Pro283His) n.2313C>A n.2343C>A n.2932C>A | |
| 5 | g.150541655C>G | CA361768353 | NDST1 | c.1835C>G (p.Pro612Arg) c.563C>G (p.Pro188Arg) c.848C>G (p.Pro283Arg) n.2313C>G n.2343C>G n.2932C>G | |
| 5 | g.150541655C>T | CA361768351 | NDST1 | c.1835C>T (p.Pro612Leu) c.563C>T (p.Pro188Leu) c.848C>T (p.Pro283Leu) n.2313C>T n.2343C>T n.2932C>T | gnomAD v4 |
| 5 | g.150541656C>A | CA447164201 | NDST1 | c.1836C>A (p.Pro612=) c.564C>A (p.Pro188=) c.849C>A (p.Pro283=) n.2314C>A n.2344C>A n.2933C>A | |
| 5 | g.150541656C>G | CA447164203 | NDST1 | c.1836C>G (p.Pro612=) c.564C>G (p.Pro188=) c.849C>G (p.Pro283=) n.2314C>G n.2344C>G n.2933C>G | gnomAD v4 |
| 5 | g.150541656C>T | CA447164204 | NDST1 | c.1836C>T (p.Pro612=) c.564C>T (p.Pro188=) c.849C>T (p.Pro283=) n.2314C>T n.2344C>T n.2933C>T | |
| 5 | g.150541657C>A | CA361768354 | NDST1 | c.1837C>A (p.Gln613Lys) c.565C>A (p.Gln189Lys) c.850C>A (p.Gln284Lys) n.2315C>A n.2345C>A n.2934C>A | |
| 5 | g.150541657C>G | CA361768355 | NDST1 | c.1837C>G (p.Gln613Glu) c.565C>G (p.Gln189Glu) c.850C>G (p.Gln284Glu) n.2315C>G n.2345C>G n.2934C>G | |
| 5 | g.150541657C>T | CA361768356 | NDST1 | c.1837C>T (p.Gln613Ter) c.565C>T (p.Gln189Ter) c.850C>T (p.Gln284Ter) n.2315C>T n.2345C>T n.2934C>T | |
| 5 | g.150541658A>C | CA361768357 | NDST1 | c.1838A>C (p.Gln613Pro) c.566A>C (p.Gln189Pro) c.851A>C (p.Gln284Pro) n.2316A>C n.2346A>C n.2935A>C | |
| 5 | g.150541658A>G | CA361768358 | NDST1 | c.1838A>G (p.Gln613Arg) c.566A>G (p.Gln189Arg) c.851A>G (p.Gln284Arg) n.2316A>G n.2346A>G n.2935A>G | gnomAD v4 |
| 5 | g.150541658A>T | CA361768359 | NDST1 | c.1838A>T (p.Gln613Leu) c.566A>T (p.Gln189Leu) c.851A>T (p.Gln284Leu) n.2316A>T n.2346A>T n.2935A>T | |
| 5 | g.150541659G>A | CA447164208 | NDST1 | c.1839G>A (p.Gln613=) c.567G>A (p.Gln189=) c.852G>A (p.Gln284=) n.2317G>A n.2347G>A n.2936G>A | |
| 5 | g.150541659G>C | CA361768360 | NDST1 | c.1839G>C (p.Gln613His) c.567G>C (p.Gln189His) c.852G>C (p.Gln284His) n.2317G>C n.2347G>C n.2936G>C | |
| 5 | g.150541659G>T | CA361768361 | NDST1 | c.1839G>T (p.Gln613His) c.567G>T (p.Gln189His) c.852G>T (p.Gln284His) n.2317G>T n.2347G>T n.2936G>T | |
| 5 | g.150541660A>C | CA361768362 | NDST1 | c.1840A>C (p.Lys614Gln) c.568A>C (p.Lys190Gln) c.853A>C (p.Lys285Gln) n.2318A>C n.2348A>C n.2937A>C | |
| 5 | g.150541660A>G | CA361768363 | NDST1 | c.1840A>G (p.Lys614Glu) c.568A>G (p.Lys190Glu) c.853A>G (p.Lys285Glu) n.2318A>G n.2348A>G n.2937A>G | gnomAD v4 |
| 5 | g.150541660A>T | CA361768364 | NDST1 | c.1840A>T (p.Lys614Ter) c.568A>T (p.Lys190Ter) c.853A>T (p.Lys285Ter) n.2318A>T n.2348A>T n.2937A>T | |
| 5 | g.150541661A>C | CA361768365 | NDST1 | c.1841A>C (p.Lys614Thr) c.569A>C (p.Lys190Thr) c.854A>C (p.Lys285Thr) n.2319A>C n.2349A>C n.2938A>C | |
| 5 | g.150541661A>G | CA361768366 | NDST1 | c.1841A>G (p.Lys614Arg) c.569A>G (p.Lys190Arg) c.854A>G (p.Lys285Arg) n.2319A>G n.2349A>G n.2938A>G | gnomAD v4 |
| 5 | g.150541661A>T | CA361768367 | NDST1 | c.1841A>T (p.Lys614Ile) c.569A>T (p.Lys190Ile) c.854A>T (p.Lys285Ile) n.2319A>T n.2349A>T n.2938A>T | |
| 5 | g.150541662A>C | CA361768368 | NDST1 | c.1842A>C (p.Lys614Asn) c.570A>C (p.Lys190Asn) c.855A>C (p.Lys285Asn) n.2320A>C n.2350A>C n.2939A>C | |
| 5 | g.150541662A>G | CA447164211 | NDST1 | c.1842A>G (p.Lys614=) c.570A>G (p.Lys190=) c.855A>G (p.Lys285=) n.2320A>G n.2350A>G n.2939A>G | |
| 5 | g.150541662A>T | CA361768369 | NDST1 | c.1842A>T (p.Lys614Asn) c.570A>T (p.Lys190Asn) c.855A>T (p.Lys285Asn) n.2320A>T n.2350A>T n.2939A>T | |
| 5 | g.150541663A>C | CA361768370 | NDST1 | c.1843A>C (p.Thr615Pro) c.571A>C (p.Thr191Pro) c.856A>C (p.Thr286Pro) n.2321A>C n.2351A>C n.2940A>C | |
| 5 | g.150541663A>G | CA361768371 | NDST1 | c.1843A>G (p.Thr615Ala) c.571A>G (p.Thr191Ala) c.856A>G (p.Thr286Ala) n.2321A>G n.2351A>G n.2940A>G | |
| 5 | g.150541663A>T | CA361768372 | NDST1 | c.1843A>T (p.Thr615Ser) c.571A>T (p.Thr191Ser) c.856A>T (p.Thr286Ser) n.2321A>T n.2351A>T n.2940A>T | |
| 5 | g.150541664C>A | CA361768373 | NDST1 | c.1844C>A (p.Thr615Lys) c.572C>A (p.Thr191Lys) c.857C>A (p.Thr286Lys) n.2322C>A n.2352C>A n.2941C>A | |
| 5 | g.150541664C>G | CA361768374 | NDST1 | c.1844C>G (p.Thr615Arg) c.572C>G (p.Thr191Arg) c.857C>G (p.Thr286Arg) n.2322C>G n.2352C>G n.2941C>G | |
| 5 | g.150541664C>T | CA361768375 | NDST1 | c.1844C>T (p.Thr615Ile) c.572C>T (p.Thr191Ile) c.857C>T (p.Thr286Ile) n.2322C>T n.2352C>T n.2941C>T | |
| 5 | g.150541665del | CA2578454364 | NDST1 | c.1845del (p.Gly616AlafsTer15) c.573del (p.Gly192AlafsTer15) c.858del (p.Gly287AlafsTer15) n.2323del n.2353del n.2942del | |
| 5 | g.150541665A>C | CA447164215 | NDST1 | c.1845A>C (p.Thr615=) c.573A>C (p.Thr191=) c.858A>C (p.Thr286=) n.2323A>C n.2353A>C n.2942A>C | |
| 5 | g.150541665A>G | CA447164213 | NDST1 | c.1845A>G (p.Thr615=) c.573A>G (p.Thr191=) c.858A>G (p.Thr286=) n.2323A>G n.2353A>G n.2942A>G | |
| 5 | g.150541665A>T | CA447164214 | NDST1 | c.1845A>T (p.Thr615=) c.573A>T (p.Thr191=) c.858A>T (p.Thr286=) n.2323A>T n.2353A>T n.2942A>T |