Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119811532C>G | CA2577909492 | NR1I2 | c.332-7C>G (n.332-7C>G) c.449-7C>G (n.449-7C>G) n.457C>G | |
3 | g.119811535G>T | CA2667142912 | NR1I2 | c.332-4G>T (n.332-4G>T) c.449-4G>T (n.449-4G>T) n.460G>T | gnomAD v4 |
3 | g.119811536C= | CA1396725499 | NR1I2 | c.332-3C= (n.332-3C=) c.449-3C= (n.449-3C=) n.461C= | |
3 | g.119811536C>T | CA545961522 | NR1I2 | c.332-3C>T (n.332-3C>T) c.449-3C>T (n.449-3C>T) n.461C>T | dbSNP gnomAD v2 |
3 | g.119811537A= | CA1396725500 | NR1I2 | c.332-2A= (n.332-2A=) c.449-2A= (n.449-2A=) n.462A= | |
3 | g.119811537A>C | CA354057535 | NR1I2 | c.332-2A>C (n.332-2A>C) c.449-2A>C (n.449-2A>C) n.462A>C | |
3 | g.119811537A>G | CA81752653 | NR1I2 | c.332-2A>G (n.332-2A>G) c.449-2A>G (n.449-2A>G) n.462A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119811537A>T | CA354057531 | NR1I2 | c.332-2A>T (n.332-2A>T) c.449-2A>T (n.449-2A>T) n.462A>T | |
3 | g.119811538G>A | CA354057540 | NR1I2 | c.332-1G>A (n.332-1G>A) c.449-1G>A (n.449-1G>A) n.463G>A | dbSNP |
3 | g.119811538G>C | CA354057541 | NR1I2 | c.332-1G>C (n.332-1G>C) c.449-1G>C (n.449-1G>C) n.463G>C | |
3 | g.119811538G= | CA1396725501 | NR1I2 | c.332-1G= (n.332-1G=) c.449-1G= (n.449-1G=) n.463G= | |
3 | g.119811538G>T | CA354057543 | NR1I2 | c.332-1G>T (n.332-1G>T) c.449-1G>T (n.449-1G>T) n.463G>T | |
3 | g.119811539T>A | CA354057546 | NR1I2 | c.332T>A (p.Met111Lys) c.449T>A (p.Met150Lys) n.464T>A | |
3 | g.119811539T>C | CA354057549 | NR1I2 | c.332T>C (p.Met111Thr) c.449T>C (p.Met150Thr) n.464T>C | |
3 | g.119811539T>G | CA354057554 | NR1I2 | c.332T>G (p.Met111Arg) c.449T>G (p.Met150Arg) n.464T>G | |
3 | g.119811540G>A | CA354057569 | NR1I2 | c.333G>A (p.Met111Ile) c.450G>A (p.Met150Ile) n.465G>A | dbSNP |
3 | g.119811540G>C | CA354057580 | NR1I2 | c.333G>C (p.Met111Ile) c.450G>C (p.Met150Ile) n.465G>C | |
3 | g.119811540G= | CA1396725502 | NR1I2 | c.333G= (p.Met111=) c.450G= (p.Met150=) n.465G= | |
3 | g.119811540G>T | CA354057582 | NR1I2 | c.333G>T (p.Met111Ile) c.450G>T (p.Met150Ile) n.465G>T | |
3 | g.119811541A= | CA1396725503 | NR1I2 | c.334A= (p.Ile112=) c.451A= (p.Ile151=) n.466A= | |
3 | g.119811541A>C | CA354057588 | NR1I2 | c.334A>C (p.Ile112Leu) c.451A>C (p.Ile151Leu) n.466A>C | |
3 | g.119811541A>G | CA354057591 | NR1I2 | c.334A>G (p.Ile112Val) c.451A>G (p.Ile151Val) n.466A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119811541A>T | CA354057593 | NR1I2 | c.334A>T (p.Ile112Phe) c.451A>T (p.Ile151Phe) n.466A>T | |
3 | g.119811542T>A | CA354057601 | NR1I2 | c.335T>A (p.Ile112Asn) c.452T>A (p.Ile151Asn) n.467T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119811542T>C | CA354057604 | NR1I2 | c.335T>C (p.Ile112Thr) c.452T>C (p.Ile151Thr) n.467T>C | |
3 | g.119811542T>G | CA354057597 | NR1I2 | c.335T>G (p.Ile112Ser) c.452T>G (p.Ile151Ser) n.467T>G | |
3 | g.119811542T= | CA1396725504 | NR1I2 | c.335T= (p.Ile112=) c.452T= (p.Ile151=) n.467T= | |
3 | g.119811543C>A | CA435220134 | NR1I2 | c.336C>A (p.Ile112=) c.453C>A (p.Ile151=) n.468C>A | |
3 | g.119811543C= | CA1396725505 | NR1I2 | c.336C= (p.Ile112=) c.453C= (p.Ile151=) n.468C= | |
3 | g.119811543C>G | CA354057609 | NR1I2 | c.336C>G (p.Ile112Met) c.453C>G (p.Ile151Met) n.468C>G | gnomAD v4 |
3 | g.119811543C>T | CA2557820 | NR1I2 | c.336C>T (p.Ile112=) c.453C>T (p.Ile151=) n.468C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119811544A>C | CA354057616 | NR1I2 | c.337A>C (p.Met113Leu) c.454A>C (p.Met152Leu) n.469A>C | |
3 | g.119811544A>G | CA354057619 | NR1I2 | c.337A>G (p.Met113Val) c.454A>G (p.Met152Val) n.469A>G | |
3 | g.119811544A>T | CA354057620 | NR1I2 | c.337A>T (p.Met113Leu) c.454A>T (p.Met152Leu) n.469A>T | |
3 | g.119811544_119811559delinsATGTCCGACGAGGCCG | CA1396725506 | NR1I2 | c.337_352delinsATGTCCGACGAGGCCG (p.Met113=) c.454_469delinsATGTCCGACGAGGCCG (p.Met152=) n.469_484delinsATGTCCGACGAGGCCG | |
3 | g.119811545T>A | CA354057626 | NR1I2 | c.338T>A (p.Met113Lys) c.455T>A (p.Met152Lys) n.470T>A | |
3 | g.119811545T>C | CA354057629 | NR1I2 | c.338T>C (p.Met113Thr) c.455T>C (p.Met152Thr) n.470T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119811545T>G | CA354057636 | NR1I2 | c.338T>G (p.Met113Arg) c.455T>G (p.Met152Arg) n.470T>G | |
3 | g.119811545T= | CA1396725507 | NR1I2 | c.338T= (p.Met113=) c.455T= (p.Met152=) n.470T= | |
3 | g.119811547_119811561del | CA545961523 | NR1I2 | c.340_354del (p.Ser114_Val118del) c.457_471del (p.Ser153_Val157del) n.472_486del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119811546G>A | CA354057640 | NR1I2 | c.339G>A (p.Met113Ile) c.456G>A (p.Met152Ile) n.471G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119811546G>C | CA354057642 | NR1I2 | c.339G>C (p.Met113Ile) c.456G>C (p.Met152Ile) n.471G>C | |
3 | g.119811546G= | CA1396725508 | NR1I2 | c.339G= (p.Met113=) c.456G= (p.Met152=) n.471G= | |
3 | g.119811546G>T | CA354057644 | NR1I2 | c.339G>T (p.Met113Ile) c.456G>T (p.Met152Ile) n.471G>T | |
3 | g.119811547T>A | CA354057648 | NR1I2 | c.340T>A (p.Ser114Thr) c.457T>A (p.Ser153Thr) n.472T>A | |
3 | g.119811547T>C | CA354057658 | NR1I2 | c.340T>C (p.Ser114Pro) c.457T>C (p.Ser153Pro) n.472T>C | |
3 | g.119811547T>G | CA354057682 | NR1I2 | c.340T>G (p.Ser114Ala) c.457T>G (p.Ser153Ala) n.472T>G | |
3 | g.119811548C>A | CA354057688 | NR1I2 | c.341C>A (p.Ser114Tyr) c.458C>A (p.Ser153Tyr) n.473C>A | |
3 | g.119811548C>G | CA354057687 | NR1I2 | c.341C>G (p.Ser114Cys) c.458C>G (p.Ser153Cys) n.473C>G | |
3 | g.119811548C>T | CA354057686 | NR1I2 | c.341C>T (p.Ser114Phe) c.458C>T (p.Ser153Phe) n.473C>T |