Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119807301T>A | CA354055604 | NR1I2 | c.51T>A (p.Cys17Ter) c.*74T>A (n.*74T>A) c.168T>A (p.Cys56Ter) n.339T>A | |
3 | g.119807301T>C | CA435219338 | NR1I2 | c.51T>C (p.Cys17=) c.*74T>C (n.*74T>C) c.168T>C (p.Cys56=) n.339T>C | |
3 | g.119807301T>G | CA2557719 | NR1I2 | c.51T>G (p.Cys17Trp) c.*74T>G (n.*74T>G) c.168T>G (p.Cys56Trp) n.339T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807301T= | CA1396723470 | NR1I2 | c.51T= (p.Cys17=) c.*74T= (n.*74T=) c.168T= (p.Cys56=) n.339T= | |
3 | g.119807302G>A | CA2557720 | NR1I2 | c.52G>A (p.Glu18Lys) c.*75G>A (n.*75G>A) c.169G>A (p.Glu57Lys) n.340G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807302G>C | CA354055607 | NR1I2 | c.52G>C (p.Glu18Gln) c.*75G>C (n.*75G>C) c.169G>C (p.Glu57Gln) n.340G>C | |
3 | g.119807302G= | CA1396723471 | NR1I2 | c.52G= (p.Glu18=) c.*75G= (n.*75G=) c.169G= (p.Glu57=) n.340G= | |
3 | g.119807302G>T | CA354055609 | NR1I2 | c.52G>T (p.Glu18Ter) c.*75G>T (n.*75G>T) c.169G>T (p.Glu57Ter) n.340G>T | |
3 | g.119807302_119807303insTCCTCACAGTGTACAA | CA2839869669 | NR1I2 | c.52_53insTCCTCACAGTGTACAA (p.Glu18ValfsTer21) c.*75_*76insTCCTCACAGTGTACAA (n.*75_*76insTCCTCACAGTGTACAA) c.169_170insTCCTCACAGTGTACAA (p.Glu57ValfsTer21) n.340_341insTCCTCACAGTGTACAA | |
3 | g.119807303A>C | CA354055610 | NR1I2 | c.53A>C (p.Glu18Ala) c.*76A>C (n.*76A>C) c.170A>C (p.Glu57Ala) n.341A>C | |
3 | g.119807303A>G | CA354055612 | NR1I2 | c.53A>G (p.Glu18Gly) c.*76A>G (n.*76A>G) c.170A>G (p.Glu57Gly) n.341A>G | |
3 | g.119807303A>T | CA354055614 | NR1I2 | c.53A>T (p.Glu18Val) c.*76A>T (n.*76A>T) c.170A>T (p.Glu57Val) n.341A>T | |
3 | g.119807304G>A | CA435219348 | NR1I2 | c.54G>A (p.Glu18=) c.*77G>A (n.*77G>A) c.171G>A (p.Glu57=) n.342G>A | gnomAD v4 |
3 | g.119807304G>C | CA354055615 | NR1I2 | c.54G>C (p.Glu18Asp) c.*77G>C (n.*77G>C) c.171G>C (p.Glu57Asp) n.342G>C | |
3 | g.119807304G>T | CA354055616 | NR1I2 | c.54G>T (p.Glu18Asp) c.*77G>T (n.*77G>T) c.171G>T (p.Glu57Asp) n.342G>T | |
3 | g.119807305G>A | CA354055618 | NR1I2 | c.55G>A (p.Asp19Asn) c.*78G>A (n.*78G>A) c.172G>A (p.Asp58Asn) n.343G>A | |
3 | g.119807305G>C | CA354055620 | NR1I2 | c.55G>C (p.Asp19His) c.*78G>C (n.*78G>C) c.172G>C (p.Asp58His) n.343G>C | |
3 | g.119807305G>T | CA354055621 | NR1I2 | c.55G>T (p.Asp19Tyr) c.*78G>T (n.*78G>T) c.172G>T (p.Asp58Tyr) n.343G>T | |
3 | g.119807306A>C | CA354055622 | NR1I2 | c.56A>C (p.Asp19Ala) c.*79A>C (n.*79A>C) c.173A>C (p.Asp58Ala) n.344A>C | |
3 | g.119807306A>G | CA354055624 | NR1I2 | c.56A>G (p.Asp19Gly) c.*79A>G (n.*79A>G) c.173A>G (p.Asp58Gly) n.344A>G | |
3 | g.119807306A>T | CA354055626 | NR1I2 | c.56A>T (p.Asp19Val) c.*79A>T (n.*79A>T) c.173A>T (p.Asp58Val) n.344A>T | |
3 | g.119807309_119807310del | CA2667141649 | NR1I2 | c.59_60del (p.Thr20ArgfsTer13) c.*82_*83del (n.*82_*83del) c.176_177del (p.Thr59ArgfsTer13) n.347_348del | gnomAD v4 |
3 | g.119807307C>A | CA354055628 | NR1I2 | c.57C>A (p.Asp19Glu) c.*80C>A (n.*80C>A) c.174C>A (p.Asp58Glu) n.345C>A | |
3 | g.119807307C= | CA1396723472 | NR1I2 | c.57C= (p.Asp19=) c.*80C= (n.*80C=) c.174C= (p.Asp58=) n.345C= | |
3 | g.119807307C>G | CA354055627 | NR1I2 | c.57C>G (p.Asp19Glu) c.*80C>G (n.*80C>G) c.174C>G (p.Asp58Glu) n.345C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807307C>T | CA435219358 | NR1I2 | c.57C>T (p.Asp19=) c.*80C>T (n.*80C>T) c.174C>T (p.Asp58=) n.345C>T | |
3 | g.119807308A= | CA1396723473 | NR1I2 | c.58A= (p.Thr20=) c.*81A= (n.*81A=) c.175A= (p.Thr59=) n.346A= | |
3 | g.119807308A>C | CA354055629 | NR1I2 | c.58A>C (p.Thr20Pro) c.*81A>C (n.*81A>C) c.175A>C (p.Thr59Pro) n.346A>C | |
3 | g.119807308A>G | CA354055630 | NR1I2 | c.58A>G (p.Thr20Ala) c.*81A>G (n.*81A>G) c.175A>G (p.Thr59Ala) n.346A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.119807308A>T | CA354055632 | NR1I2 | c.58A>T (p.Thr20Ser) c.*81A>T (n.*81A>T) c.175A>T (p.Thr59Ser) n.346A>T | |
3 | g.119807309C>A | CA2557721 | NR1I2 | c.59C>A (p.Thr20Lys) c.*82C>A (n.*82C>A) c.176C>A (p.Thr59Lys) n.347C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807309C= | CA1396723474 | NR1I2 | c.59C= (p.Thr20=) c.*82C= (n.*82C=) c.176C= (p.Thr59=) n.347C= | |
3 | g.119807309C>G | CA354055635 | NR1I2 | c.59C>G (p.Thr20Arg) c.*82C>G (n.*82C>G) c.176C>G (p.Thr59Arg) n.347C>G | |
3 | g.119807309C>T | CA354055636 | NR1I2 | c.59C>T (p.Thr20Ile) c.*82C>T (n.*82C>T) c.176C>T (p.Thr59Ile) n.347C>T | gnomAD v4 |
3 | g.119807310A= | CA1396723475 | NR1I2 | c.60A= (p.Thr20=) c.*83A= (n.*83A=) c.177A= (p.Thr59=) n.348A= | |
3 | g.119807310A>C | CA435219368 | NR1I2 | c.60A>C (p.Thr20=) c.*83A>C (n.*83A>C) c.177A>C (p.Thr59=) n.348A>C | |
3 | g.119807310A>G | CA435219371 | NR1I2 | c.60A>G (p.Thr20=) c.*83A>G (n.*83A>G) c.177A>G (p.Thr59=) n.348A>G | dbSNP gnomAD v4 |
3 | g.119807310A>T | CA435219370 | NR1I2 | c.60A>T (p.Thr20=) c.*83A>T (n.*83A>T) c.177A>T (p.Thr59=) n.348A>T | |
3 | g.119807311G>A | CA354055637 | NR1I2 | c.61G>A (p.Glu21Lys) c.*84G>A (n.*84G>A) c.178G>A (p.Glu60Lys) n.349G>A | gnomAD v4 |
3 | g.119807311G>C | CA354055641 | NR1I2 | c.61G>C (p.Glu21Gln) c.*84G>C (n.*84G>C) c.178G>C (p.Glu60Gln) n.349G>C | dbSNP gnomAD v4 |
3 | g.119807311G>T | CA354055639 | NR1I2 | c.61G>T (p.Glu21Ter) c.*84G>T (n.*84G>T) c.178G>T (p.Glu60Ter) n.349G>T | |
3 | g.119807312A>C | CA354055643 | NR1I2 | c.62A>C (p.Glu21Ala) c.*85A>C (n.*85A>C) c.179A>C (p.Glu60Ala) n.350A>C | |
3 | g.119807312A>G | CA354055644 | NR1I2 | c.62A>G (p.Glu21Gly) c.*85A>G (n.*85A>G) c.179A>G (p.Glu60Gly) n.350A>G | |
3 | g.119807312A>T | CA354055646 | NR1I2 | c.62A>T (p.Glu21Val) c.*85A>T (n.*85A>T) c.179A>T (p.Glu60Val) n.350A>T | |
3 | g.119807313G>A | CA435219378 | NR1I2 | c.63G>A (p.Glu21=) c.*86G>A (n.*86G>A) c.180G>A (p.Glu60=) n.351G>A | |
3 | g.119807313G>C | CA354055648 | NR1I2 | c.63G>C (p.Glu21Asp) c.*86G>C (n.*86G>C) c.180G>C (p.Glu60Asp) n.351G>C | |
3 | g.119807313G= | CA1396723476 | NR1I2 | c.63G= (p.Glu21=) c.*86G= (n.*86G=) c.180G= (p.Glu60=) n.351G= | |
3 | g.119807313G>T | CA354055649 | NR1I2 | c.63G>T (p.Glu21Asp) c.*86G>T (n.*86G>T) c.180G>T (p.Glu60Asp) n.351G>T | dbSNP gnomAD v4 COSMIC |
3 | g.119807314T>A | CA354055651 | NR1I2 | c.64T>A (p.Ser22Thr) c.*87T>A (n.*87T>A) c.181T>A (p.Ser61Thr) n.352T>A | |
3 | g.119807314T>C | CA354055653 | NR1I2 | c.64T>C (p.Ser22Pro) c.*87T>C (n.*87T>C) c.181T>C (p.Ser61Pro) n.352T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807314T>G | CA354055655 | NR1I2 | c.64T>G (p.Ser22Ala) c.*87T>G (n.*87T>G) c.181T>G (p.Ser61Ala) n.352T>G | |
3 | g.119807314T= | CA1396723477 | NR1I2 | c.64T= (p.Ser22=) c.*87T= (n.*87T=) c.181T= (p.Ser61=) n.352T= | |
3 | g.119807315C>A | CA354055656 | NR1I2 | c.65C>A (p.Ser22Tyr) c.*88C>A (n.*88C>A) c.182C>A (p.Ser61Tyr) n.353C>A | |
3 | g.119807315C>G | CA354055658 | NR1I2 | c.65C>G (p.Ser22Cys) c.*88C>G (n.*88C>G) c.182C>G (p.Ser61Cys) n.353C>G | gnomAD v4 COSMIC |
3 | g.119807315C>T | CA354055660 | NR1I2 | c.65C>T (p.Ser22Phe) c.*88C>T (n.*88C>T) c.182C>T (p.Ser61Phe) n.353C>T | |
3 | g.119807316T>A | CA435219386 | NR1I2 | c.66T>A (p.Ser22=) c.*89T>A (n.*89T>A) c.183T>A (p.Ser61=) n.354T>A | |
3 | g.119807316T>C | CA435219387 | NR1I2 | c.66T>C (p.Ser22=) c.*89T>C (n.*89T>C) c.183T>C (p.Ser61=) n.354T>C | dbSNP |
3 | g.119807316T>G | CA435219388 | NR1I2 | c.66T>G (p.Ser22=) c.*89T>G (n.*89T>G) c.183T>G (p.Ser61=) n.354T>G | |
3 | g.119807316T= | CA1396723478 | NR1I2 | c.66T= (p.Ser22=) c.*89T= (n.*89T=) c.183T= (p.Ser61=) n.354T= | |
3 | g.119807317G>A | CA354055664 | NR1I2 | c.67G>A (p.Val23Ile) c.*90G>A (n.*90G>A) c.184G>A (p.Val62Ile) n.355G>A | gnomAD v4 |
3 | g.119807317G>C | CA354055663 | NR1I2 | c.67G>C (p.Val23Leu) c.*90G>C (n.*90G>C) c.184G>C (p.Val62Leu) n.355G>C | |
3 | g.119807317G= | CA1396723479 | NR1I2 | c.67G= (p.Val23=) c.*90G= (n.*90G=) c.184G= (p.Val62=) n.355G= | |
3 | g.119807317G>T | CA354055662 | NR1I2 | c.67G>T (p.Val23Phe) c.*90G>T (n.*90G>T) c.184G>T (p.Val62Phe) n.355G>T | dbSNP |
3 | g.119807318T>A | CA354055666 | NR1I2 | c.68T>A (p.Val23Asp) c.*91T>A (n.*91T>A) c.185T>A (p.Val62Asp) n.356T>A | gnomAD v4 |
3 | g.119807318T>C | CA354055667 | NR1I2 | c.68T>C (p.Val23Ala) c.*91T>C (n.*91T>C) c.185T>C (p.Val62Ala) n.356T>C | |
3 | g.119807318T>G | CA354055668 | NR1I2 | c.68T>G (p.Val23Gly) c.*91T>G (n.*91T>G) c.185T>G (p.Val62Gly) n.356T>G | |
3 | g.119807319del | CA2577909396 | NR1I2 | c.69del (p.Pro24LeufsTer?) c.*92del (n.*92del) c.186del (p.Pro63LeufsTer?) n.357del | gnomAD v4 |
3 | g.119807319T>A | CA435219395 | NR1I2 | c.69T>A (p.Val23=) c.*92T>A (n.*92T>A) c.186T>A (p.Val62=) n.357T>A | |
3 | g.119807319T>C | CA435219393 | NR1I2 | c.69T>C (p.Val23=) c.*92T>C (n.*92T>C) c.186T>C (p.Val62=) n.357T>C | |
3 | g.119807319T>G | CA435219391 | NR1I2 | c.69T>G (p.Val23=) c.*92T>G (n.*92T>G) c.186T>G (p.Val62=) n.357T>G | |
3 | g.119807320C>A | CA354055670 | NR1I2 | c.70C>A (p.Pro24Thr) c.*93C>A (n.*93C>A) c.187C>A (p.Pro63Thr) n.358C>A | |
3 | g.119807320C= | CA1396723480 | NR1I2 | c.70C= (p.Pro24=) c.*93C= (n.*93C=) c.187C= (p.Pro63=) n.358C= | |
3 | g.119807320C>G | CA354055671 | NR1I2 | c.70C>G (p.Pro24Ala) c.*93C>G (n.*93C>G) c.187C>G (p.Pro63Ala) n.358C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807320C>T | CA354055673 | NR1I2 | c.70C>T (p.Pro24Ser) c.*93C>T (n.*93C>T) c.187C>T (p.Pro63Ser) n.358C>T | dbSNP gnomAD v4 |
3 | g.119807321C>A | CA354055675 | NR1I2 | c.71C>A (p.Pro24His) c.*94C>A (n.*94C>A) c.188C>A (p.Pro63His) n.359C>A | |
3 | g.119807321C= | CA1396723481 | NR1I2 | c.71C= (p.Pro24=) c.*94C= (n.*94C=) c.188C= (p.Pro63=) n.359C= | |
3 | g.119807321C>G | CA354055677 | NR1I2 | c.71C>G (p.Pro24Arg) c.*94C>G (n.*94C>G) c.188C>G (p.Pro63Arg) n.359C>G | |
3 | g.119807321C>T | CA354055678 | NR1I2 | c.71C>T (p.Pro24Leu) c.*94C>T (n.*94C>T) c.188C>T (p.Pro63Leu) n.359C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807322T>A | CA435219397 | NR1I2 | c.72T>A (p.Pro24=) c.*95T>A (n.*95T>A) c.189T>A (p.Pro63=) n.360T>A | |
3 | g.119807322T>C | CA2557722 | NR1I2 | c.72T>C (p.Pro24=) c.*95T>C (n.*95T>C) c.189T>C (p.Pro63=) n.360T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807322T>G | CA435219398 | NR1I2 | c.72T>G (p.Pro24=) c.*95T>G (n.*95T>G) c.189T>G (p.Pro63=) n.360T>G | |
3 | g.119807322T= | CA1396723482 | NR1I2 | c.72T= (p.Pro24=) c.*95T= (n.*95T=) c.189T= (p.Pro63=) n.360T= | |
3 | g.119807323G>A | CA354055681 | NR1I2 | c.73G>A (p.Gly25Arg) c.*96G>A (n.*96G>A) c.190G>A (p.Gly64Arg) n.361G>A | COSMIC |
3 | g.119807323G>C | CA354055683 | NR1I2 | c.73G>C (p.Gly25Arg) c.*96G>C (n.*96G>C) c.190G>C (p.Gly64Arg) n.361G>C | |
3 | g.119807323G>T | CA354055684 | NR1I2 | c.73G>T (p.Gly25Ter) c.*96G>T (n.*96G>T) c.190G>T (p.Gly64Ter) n.361G>T | |
3 | g.119807324G>A | CA354055690 | NR1I2 | c.74G>A (p.Gly25Glu) c.*97G>A (n.*97G>A) c.191G>A (p.Gly64Glu) n.362G>A | |
3 | g.119807324G>C | CA354055688 | NR1I2 | c.74G>C (p.Gly25Ala) c.*97G>C (n.*97G>C) c.191G>C (p.Gly64Ala) n.362G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807324G= | CA1396723483 | NR1I2 | c.74G= (p.Gly25=) c.*97G= (n.*97G=) c.191G= (p.Gly64=) n.362G= | |
3 | g.119807324G>T | CA354055686 | NR1I2 | c.74G>T (p.Gly25Val) c.*97G>T (n.*97G>T) c.191G>T (p.Gly64Val) n.362G>T | |
3 | g.119807325A= | CA1396723484 | NR1I2 | c.75A= (p.Gly25=) c.*98A= (n.*98A=) c.192A= (p.Gly64=) n.363A= | |
3 | g.119807325A>C | CA435219403 | NR1I2 | c.75A>C (p.Gly25=) c.*98A>C (n.*98A>C) c.192A>C (p.Gly64=) n.363A>C | |
3 | g.119807325A>G | CA435219404 | NR1I2 | c.75A>G (p.Gly25=) c.*98A>G (n.*98A>G) c.192A>G (p.Gly64=) n.363A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807325A>T | CA435219406 | NR1I2 | c.75A>T (p.Gly25=) c.*98A>T (n.*98A>T) c.192A>T (p.Gly64=) n.363A>T | |
3 | g.119807326A>C | CA354055691 | NR1I2 | c.76A>C (p.Lys26Gln) c.*99A>C (n.*99A>C) c.193A>C (p.Lys65Gln) n.364A>C | |
3 | g.119807326A>G | CA354055692 | NR1I2 | c.76A>G (p.Lys26Glu) c.*99A>G (n.*99A>G) c.193A>G (p.Lys65Glu) n.364A>G | gnomAD v4 |
3 | g.119807326A>T | CA354055694 | NR1I2 | c.76A>T (p.Lys26Ter) c.*99A>T (n.*99A>T) c.193A>T (p.Lys65Ter) n.364A>T | gnomAD v4 |
3 | g.119807327A>C | CA354055696 | NR1I2 | c.77A>C (p.Lys26Thr) c.*100A>C (n.*100A>C) c.194A>C (p.Lys65Thr) n.365A>C | |
3 | g.119807327A>G | CA354055698 | NR1I2 | c.77A>G (p.Lys26Arg) c.*100A>G (n.*100A>G) c.194A>G (p.Lys65Arg) n.365A>G | |
3 | g.119807327A>T | CA354055699 | NR1I2 | c.77A>T (p.Lys26Met) c.*100A>T (n.*100A>T) c.194A>T (p.Lys65Met) n.365A>T | |
3 | g.119807328G>A | CA435219408 | NR1I2 | c.78G>A (p.Lys26=) c.*101G>A (n.*101G>A) c.195G>A (p.Lys65=) n.366G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807328G>C | CA354055701 | NR1I2 | c.78G>C (p.Lys26Asn) c.*101G>C (n.*101G>C) c.195G>C (p.Lys65Asn) n.366G>C | |
3 | g.119807328G= | CA1396723485 | NR1I2 | c.78G= (p.Lys26=) c.*101G= (n.*101G=) c.195G= (p.Lys65=) n.366G= | |
3 | g.119807328G>T | CA354055702 | NR1I2 | c.78G>T (p.Lys26Asn) c.*101G>T (n.*101G>T) c.195G>T (p.Lys65Asn) n.366G>T | ClinVar dbSNP gnomAD v4 |
3 | g.119807329C>A | CA354055703 | NR1I2 | c.79C>A (p.Pro27Thr) c.*102C>A (n.*102C>A) c.196C>A (p.Pro66Thr) n.367C>A | |
3 | g.119807329C= | CA1396723486 | NR1I2 | c.79C= (p.Pro27=) c.*102C= (n.*102C=) c.196C= (p.Pro66=) n.367C= | |
3 | g.119807329C>G | CA354055705 | NR1I2 | c.79C>G (p.Pro27Ala) c.*102C>G (n.*102C>G) c.196C>G (p.Pro66Ala) n.367C>G | |
3 | g.119807329C>T | CA2557723 | NR1I2 | c.79C>T (p.Pro27Ser) c.*102C>T (n.*102C>T) c.196C>T (p.Pro66Ser) n.367C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807330C>A | CA354055708 | NR1I2 | c.80C>A (p.Pro27His) c.*103C>A (n.*103C>A) c.197C>A (p.Pro66His) n.368C>A | |
3 | g.119807330C>G | CA354055710 | NR1I2 | c.80C>G (p.Pro27Arg) c.*103C>G (n.*103C>G) c.197C>G (p.Pro66Arg) n.368C>G | |
3 | g.119807330C>T | CA354055712 | NR1I2 | c.80C>T (p.Pro27Leu) c.*103C>T (n.*103C>T) c.197C>T (p.Pro66Leu) n.368C>T | |
3 | g.119807331C>A | CA435219413 | NR1I2 | c.81C>A (p.Pro27=) c.*104C>A (n.*104C>A) c.198C>A (p.Pro66=) n.369C>A | |
3 | g.119807331C>G | CA435219415 | NR1I2 | c.81C>G (p.Pro27=) c.*104C>G (n.*104C>G) c.198C>G (p.Pro66=) n.369C>G | |
3 | g.119807331C>T | CA435219416 | NR1I2 | c.81C>T (p.Pro27=) c.*104C>T (n.*104C>T) c.198C>T (p.Pro66=) n.369C>T | |
3 | g.119807332A>C | CA354055717 | NR1I2 | c.82A>C (p.Ser28Arg) c.*105A>C (n.*105A>C) c.199A>C (p.Ser67Arg) n.370A>C | |
3 | g.119807332A>G | CA354055715 | NR1I2 | c.82A>G (p.Ser28Gly) c.*105A>G (n.*105A>G) c.199A>G (p.Ser67Gly) n.370A>G | |
3 | g.119807332A>T | CA354055714 | NR1I2 | c.82A>T (p.Ser28Cys) c.*105A>T (n.*105A>T) c.199A>T (p.Ser67Cys) n.370A>T | |
3 | g.119807333G>A | CA354055719 | NR1I2 | c.83G>A (p.Ser28Asn) c.*106G>A (n.*106G>A) c.200G>A (p.Ser67Asn) n.371G>A | dbSNP |
3 | g.119807333G>C | CA354055721 | NR1I2 | c.83G>C (p.Ser28Thr) c.*106G>C (n.*106G>C) c.200G>C (p.Ser67Thr) n.371G>C | |
3 | g.119807333G= | CA1396723487 | NR1I2 | c.83G= (p.Ser28=) c.*106G= (n.*106G=) c.200G= (p.Ser67=) n.371G= | |
3 | g.119807333G>T | CA354055723 | NR1I2 | c.83G>T (p.Ser28Ile) c.*106G>T (n.*106G>T) c.200G>T (p.Ser67Ile) n.371G>T | |
3 | g.119807334T>A | CA354055724 | NR1I2 | c.84T>A (p.Ser28Arg) c.*107T>A (n.*107T>A) c.201T>A (p.Ser67Arg) n.372T>A | |
3 | g.119807334T>C | CA435219419 | NR1I2 | c.84T>C (p.Ser28=) c.*107T>C (n.*107T>C) c.201T>C (p.Ser67=) n.372T>C | gnomAD v4 |
3 | g.119807334T>G | CA354055726 | NR1I2 | c.84T>G (p.Ser28Arg) c.*107T>G (n.*107T>G) c.201T>G (p.Ser67Arg) n.372T>G | |
3 | g.119807335G>A | CA2557724 | NR1I2 | c.85G>A (p.Val29Ile) c.*108G>A (n.*108G>A) c.202G>A (p.Val68Ile) n.373G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807335G>C | CA354055730 | NR1I2 | c.85G>C (p.Val29Leu) c.*108G>C (n.*108G>C) c.202G>C (p.Val68Leu) n.373G>C | |
3 | g.119807335G= | CA1396723488 | NR1I2 | c.85G= (p.Val29=) c.*108G= (n.*108G=) c.202G= (p.Val68=) n.373G= | |
3 | g.119807335G>T | CA354055728 | NR1I2 | c.85G>T (p.Val29Phe) c.*108G>T (n.*108G>T) c.202G>T (p.Val68Phe) n.373G>T | |
3 | g.119807336T>A | CA2557725 | NR1I2 | c.86T>A (p.Val29Asp) c.*109T>A (n.*109T>A) c.203T>A (p.Val68Asp) n.374T>A | dbSNP ExAC gnomAD v4 |
3 | g.119807336T>C | CA354055733 | NR1I2 | c.86T>C (p.Val29Ala) c.*109T>C (n.*109T>C) c.203T>C (p.Val68Ala) n.374T>C | |
3 | g.119807336T>G | CA354055735 | NR1I2 | c.86T>G (p.Val29Gly) c.*109T>G (n.*109T>G) c.203T>G (p.Val68Gly) n.374T>G | |
3 | g.119807336T= | CA1396723489 | NR1I2 | c.86T= (p.Val29=) c.*109T= (n.*109T=) c.203T= (p.Val68=) n.374T= | |
3 | g.119807337C>A | CA435219422 | NR1I2 | c.87C>A (p.Val29=) c.*110C>A (n.*110C>A) c.204C>A (p.Val68=) n.375C>A | |
3 | g.119807337C= | CA1396723490 | NR1I2 | c.87C= (p.Val29=) c.*110C= (n.*110C=) c.204C= (p.Val68=) n.375C= | |
3 | g.119807337C>G | CA435219423 | NR1I2 | c.87C>G (p.Val29=) c.*110C>G (n.*110C>G) c.204C>G (p.Val68=) n.375C>G | dbSNP |
3 | g.119807337C>T | CA435219424 | NR1I2 | c.87C>T (p.Val29=) c.*110C>T (n.*110C>T) c.204C>T (p.Val68=) n.375C>T | gnomAD v4 |
3 | g.119807338A>C | CA354055737 | NR1I2 | c.88A>C (p.Asn30His) c.*111A>C (n.*111A>C) c.205A>C (p.Asn69His) n.376A>C | |
3 | g.119807338A>G | CA354055739 | NR1I2 | c.88A>G (p.Asn30Asp) c.*111A>G (n.*111A>G) c.205A>G (p.Asn69Asp) n.376A>G | |
3 | g.119807338A>T | CA354055741 | NR1I2 | c.88A>T (p.Asn30Tyr) c.*111A>T (n.*111A>T) c.205A>T (p.Asn69Tyr) n.376A>T | |
3 | g.119807339A>C | CA354055746 | NR1I2 | c.89A>C (p.Asn30Thr) c.*112A>C (n.*112A>C) c.206A>C (p.Asn69Thr) n.377A>C | |
3 | g.119807339A>G | CA354055743 | NR1I2 | c.89A>G (p.Asn30Ser) c.*112A>G (n.*112A>G) c.206A>G (p.Asn69Ser) n.377A>G | |
3 | g.119807339A>T | CA354055744 | NR1I2 | c.89A>T (p.Asn30Ile) c.*112A>T (n.*112A>T) c.206A>T (p.Asn69Ile) n.377A>T | |
3 | g.119807340C>A | CA354055748 | NR1I2 | c.90C>A (p.Asn30Lys) c.*113C>A (n.*113C>A) c.207C>A (p.Asn69Lys) n.378C>A | |
3 | g.119807340C= | CA1396723491 | NR1I2 | c.90C= (p.Asn30=) c.*113C= (n.*113C=) c.207C= (p.Asn69=) n.378C= | |
3 | g.119807340C>G | CA354055750 | NR1I2 | c.90C>G (p.Asn30Lys) c.*113C>G (n.*113C>G) c.207C>G (p.Asn69Lys) n.378C>G | |
3 | g.119807340C>T | CA2557726 | NR1I2 | c.90C>T (p.Asn30=) c.*113C>T (n.*113C>T) c.207C>T (p.Asn69=) n.378C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119807341G>A | CA2557727 | NR1I2 | c.91G>A (p.Ala31Thr) c.*114G>A (n.*114G>A) c.208G>A (p.Ala70Thr) n.379G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807341G>C | CA354055753 | NR1I2 | c.91G>C (p.Ala31Pro) c.*114G>C (n.*114G>C) c.208G>C (p.Ala70Pro) n.379G>C | |
3 | g.119807341G= | CA1396723492 | NR1I2 | c.91G= (p.Ala31=) c.*114G= (n.*114G=) c.208G= (p.Ala70=) n.379G= | |
3 | g.119807341G>T | CA354055754 | NR1I2 | c.91G>T (p.Ala31Ser) c.*114G>T (n.*114G>T) c.208G>T (p.Ala70Ser) n.379G>T | |
3 | g.119807342C>A | CA354055756 | NR1I2 | c.92C>A (p.Ala31Glu) c.*115C>A (n.*115C>A) c.209C>A (p.Ala70Glu) n.380C>A | |
3 | g.119807342C>G | CA354055757 | NR1I2 | c.92C>G (p.Ala31Gly) c.*115C>G (n.*115C>G) c.209C>G (p.Ala70Gly) n.380C>G | |
3 | g.119807342C>T | CA354055759 | NR1I2 | c.92C>T (p.Ala31Val) c.*115C>T (n.*115C>T) c.209C>T (p.Ala70Val) n.380C>T | |
3 | g.119807343A>C | CA435219430 | NR1I2 | c.93A>C (p.Ala31=) c.*116A>C (n.*116A>C) c.210A>C (p.Ala70=) n.381A>C | |
3 | g.119807343A>G | CA435219432 | NR1I2 | c.93A>G (p.Ala31=) c.*116A>G (n.*116A>G) c.210A>G (p.Ala70=) n.381A>G | |
3 | g.119807343A>T | CA435219434 | NR1I2 | c.93A>T (p.Ala31=) c.*116A>T (n.*116A>T) c.210A>T (p.Ala70=) n.381A>T | |
3 | g.119807344G>A | CA354055761 | NR1I2 | c.94G>A (p.Asp32Asn) c.*117G>A (n.*117G>A) c.211G>A (p.Asp71Asn) n.382G>A | |
3 | g.119807344G>C | CA354055762 | NR1I2 | c.94G>C (p.Asp32His) c.*117G>C (n.*117G>C) c.211G>C (p.Asp71His) n.382G>C | |
3 | g.119807344G= | CA1396723493 | NR1I2 | c.94G= (p.Asp32=) c.*117G= (n.*117G=) c.211G= (p.Asp71=) n.382G= | |
3 | g.119807344G>T | CA2557728 | NR1I2 | c.94G>T (p.Asp32Tyr) c.*117G>T (n.*117G>T) c.211G>T (p.Asp71Tyr) n.382G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807345A= | CA1396723494 | NR1I2 | c.95A= (p.Asp32=) c.*118A= (n.*118A=) c.212A= (p.Asp71=) n.383A= | |
3 | g.119807345A>C | CA354055764 | NR1I2 | c.95A>C (p.Asp32Ala) c.*118A>C (n.*118A>C) c.212A>C (p.Asp71Ala) n.383A>C | |
3 | g.119807345A>G | CA2557729 | NR1I2 | c.95A>G (p.Asp32Gly) c.*118A>G (n.*118A>G) c.212A>G (p.Asp71Gly) n.383A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807345A>T | CA354055765 | NR1I2 | c.95A>T (p.Asp32Val) c.*118A>T (n.*118A>T) c.212A>T (p.Asp71Val) n.383A>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807346T>A | CA354055767 | NR1I2 | c.96T>A (p.Asp32Glu) c.*119T>A (n.*119T>A) c.213T>A (p.Asp71Glu) n.384T>A | |
3 | g.119807346T>C | CA435219439 | NR1I2 | c.96T>C (p.Asp32=) c.*119T>C (n.*119T>C) c.213T>C (p.Asp71=) n.384T>C | |
3 | g.119807346T>G | CA354055769 | NR1I2 | c.96T>G (p.Asp32Glu) c.*119T>G (n.*119T>G) c.213T>G (p.Asp71Glu) n.384T>G | |
3 | g.119807347G>A | CA2557730 | NR1I2 | c.97G>A (p.Glu33Lys) c.*120G>A (n.*120G>A) c.214G>A (p.Glu72Lys) n.385G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807347G>C | CA354055772 | NR1I2 | c.97G>C (p.Glu33Gln) c.*120G>C (n.*120G>C) c.214G>C (p.Glu72Gln) n.385G>C | |
3 | g.119807347G= | CA1396723495 | NR1I2 | c.97G= (p.Glu33=) c.*120G= (n.*120G=) c.214G= (p.Glu72=) n.385G= | |
3 | g.119807347G>T | CA354055773 | NR1I2 | c.97G>T (p.Glu33Ter) c.*120G>T (n.*120G>T) c.214G>T (p.Glu72Ter) n.385G>T | dbSNP |
3 | g.119807348del | CA2667141650 | NR1I2 | c.98del (p.Glu33GlyfsTer24) c.*121del (n.*121del) c.215del (p.Glu72GlyfsTer24) n.386del | gnomAD v4 |
3 | g.119807348A>C | CA354055775 | NR1I2 | c.98A>C (p.Glu33Ala) c.*121A>C (n.*121A>C) c.215A>C (p.Glu72Ala) n.386A>C | |
3 | g.119807348A>G | CA354055777 | NR1I2 | c.98A>G (p.Glu33Gly) c.*121A>G (n.*121A>G) c.215A>G (p.Glu72Gly) n.386A>G | |
3 | g.119807348A>T | CA354055779 | NR1I2 | c.98A>T (p.Glu33Val) c.*121A>T (n.*121A>T) c.215A>T (p.Glu72Val) n.386A>T | |
3 | g.119807349G>A | CA435219442 | NR1I2 | c.99G>A (p.Glu33=) c.*122G>A (n.*122G>A) c.216G>A (p.Glu72=) n.387G>A | dbSNP gnomAD v4 |
3 | g.119807349G>C | CA354055781 | NR1I2 | c.99G>C (p.Glu33Asp) c.*122G>C (n.*122G>C) c.216G>C (p.Glu72Asp) n.387G>C | |
3 | g.119807349G= | CA1396723496 | NR1I2 | c.99G= (p.Glu33=) c.*122G= (n.*122G=) c.216G= (p.Glu72=) n.387G= | |
3 | g.119807349G>T | CA354055783 | NR1I2 | c.99G>T (p.Glu33Asp) c.*122G>T (n.*122G>T) c.216G>T (p.Glu72Asp) n.387G>T | |
3 | g.119807350dup | CA2667141651 | NR1I2 | c.100dup (p.Glu34GlyfsTer26) c.*123dup (n.*123dup) c.217dup (p.Glu73GlyfsTer26) n.388dup | gnomAD v4 |
3 | g.119807350G>A | CA2557731 | NR1I2 | c.100G>A (p.Glu34Lys) c.*123G>A (n.*123G>A) c.217G>A (p.Glu73Lys) n.388G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807350G>C | CA354055786 | NR1I2 | c.100G>C (p.Glu34Gln) c.*123G>C (n.*123G>C) c.217G>C (p.Glu73Gln) n.388G>C | |
3 | g.119807350G= | CA1396723497 | NR1I2 | c.100G= (p.Glu34=) c.*123G= (n.*123G=) c.217G= (p.Glu73=) n.388G= | |
3 | g.119807350G>T | CA354055787 | NR1I2 | c.100G>T (p.Glu34Ter) c.*123G>T (n.*123G>T) c.217G>T (p.Glu73Ter) n.388G>T | |
3 | g.119807351A>C | CA354055792 | NR1I2 | c.101A>C (p.Glu34Ala) c.*124A>C (n.*124A>C) c.218A>C (p.Glu73Ala) n.389A>C | |
3 | g.119807351A>G | CA354055790 | NR1I2 | c.101A>G (p.Glu34Gly) c.*124A>G (n.*124A>G) c.218A>G (p.Glu73Gly) n.389A>G | |
3 | g.119807351A>T | CA354055789 | NR1I2 | c.101A>T (p.Glu34Val) c.*124A>T (n.*124A>T) c.218A>T (p.Glu73Val) n.389A>T | |
3 | g.119807352A= | CA1396723498 | NR1I2 | c.102A= (p.Glu34=) c.*125A= (n.*125A=) c.219A= (p.Glu73=) n.390A= | |
3 | g.119807352A>C | CA354055794 | NR1I2 | c.102A>C (p.Glu34Asp) c.*125A>C (n.*125A>C) c.219A>C (p.Glu73Asp) n.390A>C | |
3 | g.119807352A>G | CA435219448 | NR1I2 | c.102A>G (p.Glu34=) c.*125A>G (n.*125A>G) c.219A>G (p.Glu73=) n.390A>G | |
3 | g.119807352A>T | CA2557732 | NR1I2 | c.102A>T (p.Glu34Asp) c.*125A>T (n.*125A>T) c.219A>T (p.Glu73Asp) n.390A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807353G>A | CA354055797 | NR1I2 | c.103G>A (p.Val35Ile) c.*126G>A (n.*126G>A) c.220G>A (p.Val74Ile) n.391G>A | |
3 | g.119807353G>C | CA354055798 | NR1I2 | c.103G>C (p.Val35Leu) c.*126G>C (n.*126G>C) c.220G>C (p.Val74Leu) n.391G>C | gnomAD v4 |
3 | g.119807353G>T | CA354055800 | NR1I2 | c.103G>T (p.Val35Phe) c.*126G>T (n.*126G>T) c.220G>T (p.Val74Phe) n.391G>T | |
3 | g.119807354T>A | CA354055802 | NR1I2 | c.104T>A (p.Val35Asp) c.*127T>A (n.*127T>A) c.221T>A (p.Val74Asp) n.392T>A | gnomAD v4 |
3 | g.119807354T>C | CA354055804 | NR1I2 | c.104T>C (p.Val35Ala) c.*127T>C (n.*127T>C) c.221T>C (p.Val74Ala) n.392T>C | |
3 | g.119807354T>G | CA354055805 | NR1I2 | c.104T>G (p.Val35Gly) c.*127T>G (n.*127T>G) c.221T>G (p.Val74Gly) n.392T>G | |
3 | g.119807355C>A | CA435219453 | NR1I2 | c.105C>A (p.Val35=) c.*128C>A (n.*128C>A) c.222C>A (p.Val74=) n.393C>A | |
3 | g.119807355C= | CA1396723499 | NR1I2 | c.105C= (p.Val35=) c.*128C= (n.*128C=) c.222C= (p.Val74=) n.393C= | |
3 | g.119807355C>G | CA435219455 | NR1I2 | c.105C>G (p.Val35=) c.*128C>G (n.*128C>G) c.222C>G (p.Val74=) n.393C>G | |
3 | g.119807355C>T | CA2557733 | NR1I2 | c.105C>T (p.Val35=) c.*128C>T (n.*128C>T) c.222C>T (p.Val74=) n.393C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807356G>A | CA2557734 | NR1I2 | c.106G>A (p.Gly36Arg) c.*129G>A (n.*129G>A) c.223G>A (p.Gly75Arg) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807356G>C | CA354055808 | NR1I2 | c.106G>C (p.Gly36Arg) c.*129G>C (n.*129G>C) c.223G>C (p.Gly75Arg) n.394G>C | |
3 | g.119807356G= | CA1396723500 | NR1I2 | c.106G= (p.Gly36=) c.*129G= (n.*129G=) c.223G= (p.Gly75=) n.394G= | |
3 | g.119807356G>T | CA354055809 | NR1I2 | c.106G>T (p.Gly36Ter) c.*129G>T (n.*129G>T) c.223G>T (p.Gly75Ter) n.394G>T | |
3 | g.119807357G>A | CA2557735 | NR1I2 | c.107G>A (p.Gly36Glu) c.*130G>A (n.*130G>A) c.224G>A (p.Gly75Glu) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807357G>C | CA354055813 | NR1I2 | c.107G>C (p.Gly36Ala) c.*130G>C (n.*130G>C) c.224G>C (p.Gly75Ala) n.395G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807357G= | CA1396723501 | NR1I2 | c.107G= (p.Gly36=) c.*130G= (n.*130G=) c.224G= (p.Gly75=) n.395G= | |
3 | g.119807357G>T | CA354055812 | NR1I2 | c.107G>T (p.Gly36Val) c.*130G>T (n.*130G>T) c.224G>T (p.Gly75Val) n.395G>T | |
3 | g.119807358A>C | CA435219458 | NR1I2 | c.108A>C (p.Gly36=) c.*131A>C (n.*131A>C) c.225A>C (p.Gly75=) n.396A>C | |
3 | g.119807358A>G | CA435219457 | NR1I2 | c.108A>G (p.Gly36=) c.*131A>G (n.*131A>G) c.225A>G (p.Gly75=) n.396A>G | |
3 | g.119807358A>T | CA435219456 | NR1I2 | c.108A>T (p.Gly36=) c.*131A>T (n.*131A>T) c.225A>T (p.Gly75=) n.396A>T | |
3 | g.119807359G>A | CA81750853 | NR1I2 | c.109G>A (p.Gly37Ser) c.*132G>A (n.*132G>A) c.226G>A (p.Gly76Ser) n.397G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807359G>C | CA354055817 | NR1I2 | c.109G>C (p.Gly37Arg) c.*132G>C (n.*132G>C) c.226G>C (p.Gly76Arg) n.397G>C | |
3 | g.119807359G= | CA1396723502 | NR1I2 | c.109G= (p.Gly37=) c.*132G= (n.*132G=) c.226G= (p.Gly76=) n.397G= | |
3 | g.119807359G>T | CA354055818 | NR1I2 | c.109G>T (p.Gly37Cys) c.*132G>T (n.*132G>T) c.226G>T (p.Gly76Cys) n.397G>T | |
3 | g.119807360G>A | CA354055820 | NR1I2 | c.110G>A (p.Gly37Asp) c.*133G>A (n.*133G>A) c.227G>A (p.Gly76Asp) n.398G>A | gnomAD v4 COSMIC |
3 | g.119807360G>C | CA354055822 | NR1I2 | c.110G>C (p.Gly37Ala) c.*133G>C (n.*133G>C) c.227G>C (p.Gly76Ala) n.398G>C | |
3 | g.119807360G>T | CA354055823 | NR1I2 | c.110G>T (p.Gly37Val) c.*133G>T (n.*133G>T) c.227G>T (p.Gly76Val) n.398G>T | COSMIC |
3 | g.119807361T>A | CA435219465 | NR1I2 | c.111T>A (p.Gly37=) c.*134T>A (n.*134T>A) c.228T>A (p.Gly76=) n.399T>A | |
3 | g.119807361T>C | CA435219467 | NR1I2 | c.111T>C (p.Gly37=) c.*134T>C (n.*134T>C) c.228T>C (p.Gly76=) n.399T>C | |
3 | g.119807361T>G | CA435219466 | NR1I2 | c.111T>G (p.Gly37=) c.*134T>G (n.*134T>G) c.228T>G (p.Gly76=) n.399T>G | |
3 | g.119807362C>A | CA354055825 | NR1I2 | c.112C>A (p.Pro38Thr) c.*135C>A (n.*135C>A) c.229C>A (p.Pro77Thr) n.400C>A | |
3 | g.119807362C>G | CA354055827 | NR1I2 | c.112C>G (p.Pro38Ala) c.*135C>G (n.*135C>G) c.229C>G (p.Pro77Ala) n.400C>G | |
3 | g.119807362C>T | CA354055829 | NR1I2 | c.112C>T (p.Pro38Ser) c.*135C>T (n.*135C>T) c.229C>T (p.Pro77Ser) n.400C>T | gnomAD v4 |
3 | g.119807365del | CA2667141652 | NR1I2 | c.115del (p.Gln39LysfsTer18) c.*138del (n.*138del) c.232del (p.Gln78LysfsTer18) n.403del | gnomAD v4 |
3 | g.119807363C>A | CA354055830 | NR1I2 | c.113C>A (p.Pro38His) c.*136C>A (n.*136C>A) c.230C>A (p.Pro77His) n.401C>A | |
3 | g.119807363C>G | CA354055831 | NR1I2 | c.113C>G (p.Pro38Arg) c.*136C>G (n.*136C>G) c.230C>G (p.Pro77Arg) n.401C>G | |
3 | g.119807363C>T | CA354055832 | NR1I2 | c.113C>T (p.Pro38Leu) c.*136C>T (n.*136C>T) c.230C>T (p.Pro77Leu) n.401C>T | |
3 | g.119807364C>A | CA435219529 | NR1I2 | c.114C>A (p.Pro38=) c.*137C>A (n.*137C>A) c.231C>A (p.Pro77=) n.402C>A | |
3 | g.119807364C>G | CA435219530 | NR1I2 | c.114C>G (p.Pro38=) c.*137C>G (n.*137C>G) c.231C>G (p.Pro77=) n.402C>G | gnomAD v4 |
3 | g.119807364C>T | CA435219531 | NR1I2 | c.114C>T (p.Pro38=) c.*137C>T (n.*137C>T) c.231C>T (p.Pro77=) n.402C>T | |
3 | g.119807365C>A | CA354055835 | NR1I2 | c.115C>A (p.Gln39Lys) c.*138C>A (n.*138C>A) c.232C>A (p.Gln78Lys) n.403C>A | gnomAD v4 |
3 | g.119807365C>G | CA354055834 | NR1I2 | c.115C>G (p.Gln39Glu) c.*138C>G (n.*138C>G) c.232C>G (p.Gln78Glu) n.403C>G | |
3 | g.119807365C>T | CA354055833 | NR1I2 | c.115C>T (p.Gln39Ter) c.*138C>T (n.*138C>T) c.232C>T (p.Gln78Ter) n.403C>T | |
3 | g.119807366A>C | CA354055837 | NR1I2 | c.116A>C (p.Gln39Pro) c.*139A>C (n.*139A>C) c.233A>C (p.Gln78Pro) n.404A>C | |
3 | g.119807366A>G | CA354055839 | NR1I2 | c.116A>G (p.Gln39Arg) c.*139A>G (n.*139A>G) c.233A>G (p.Gln78Arg) n.404A>G | |
3 | g.119807366A>T | CA354055840 | NR1I2 | c.116A>T (p.Gln39Leu) c.*139A>T (n.*139A>T) c.233A>T (p.Gln78Leu) n.404A>T | |
3 | g.119807368del | CA2667141653 | NR1I2 | c.118del (p.Ile40SerfsTer17) c.*141del (n.*141del) c.235del (p.Ile79SerfsTer17) n.406del | gnomAD v4 |
3 | g.119807367A>C | CA354055842 | NR1I2 | c.117A>C (p.Gln39His) c.*140A>C (n.*140A>C) c.234A>C (p.Gln78His) n.405A>C | |
3 | g.119807367A>G | CA435219533 | NR1I2 | c.117A>G (p.Gln39=) c.*140A>G (n.*140A>G) c.234A>G (p.Gln78=) n.405A>G | gnomAD v4 |
3 | g.119807367A>T | CA354055843 | NR1I2 | c.117A>T (p.Gln39His) c.*140A>T (n.*140A>T) c.234A>T (p.Gln78His) n.405A>T | |
3 | g.119807368A= | CA1396723503 | NR1I2 | c.118A= (p.Ile40=) c.*141A= (n.*141A=) c.235A= (p.Ile79=) n.406A= | |
3 | g.119807368A>C | CA354055845 | NR1I2 | c.118A>C (p.Ile40Leu) c.*141A>C (n.*141A>C) c.235A>C (p.Ile79Leu) n.406A>C | |
3 | g.119807368A>G | CA354055848 | NR1I2 | c.118A>G (p.Ile40Val) c.*141A>G (n.*141A>G) c.235A>G (p.Ile79Val) n.406A>G | |
3 | g.119807368A>T | CA2557736 | NR1I2 | c.118A>T (p.Ile40Phe) c.*141A>T (n.*141A>T) c.235A>T (p.Ile79Phe) n.406A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807369T>A | CA354055849 | NR1I2 | c.119T>A (p.Ile40Asn) c.*142T>A (n.*142T>A) c.236T>A (p.Ile79Asn) n.407T>A | |
3 | g.119807369T>C | CA354055851 | NR1I2 | c.119T>C (p.Ile40Thr) c.*142T>C (n.*142T>C) c.236T>C (p.Ile79Thr) n.407T>C | dbSNP |
3 | g.119807369T>G | CA354055853 | NR1I2 | c.119T>G (p.Ile40Ser) c.*142T>G (n.*142T>G) c.236T>G (p.Ile79Ser) n.407T>G | |
3 | g.119807369T= | CA1396723504 | NR1I2 | c.119T= (p.Ile40=) c.*142T= (n.*142T=) c.236T= (p.Ile79=) n.407T= | |
3 | g.119807370C>A | CA435219537 | NR1I2 | c.120C>A (p.Ile40=) c.*143C>A (n.*143C>A) c.237C>A (p.Ile79=) n.408C>A | |
3 | g.119807370C>G | CA354055854 | NR1I2 | c.120C>G (p.Ile40Met) c.*143C>G (n.*143C>G) c.237C>G (p.Ile79Met) n.408C>G | |
3 | g.119807370C>T | CA435219538 | NR1I2 | c.120C>T (p.Ile40=) c.*143C>T (n.*143C>T) c.237C>T (p.Ile79=) n.408C>T | gnomAD v4 |
3 | g.119807371T>A | CA354055860 | NR1I2 | c.121T>A (p.Cys41Ser) c.*144T>A (n.*144T>A) c.238T>A (p.Cys80Ser) n.409T>A | |
3 | g.119807371T>C | CA354055858 | NR1I2 | c.121T>C (p.Cys41Arg) c.*144T>C (n.*144T>C) c.238T>C (p.Cys80Arg) n.409T>C | gnomAD v4 |
3 | g.119807371T>G | CA354055857 | NR1I2 | c.121T>G (p.Cys41Gly) c.*144T>G (n.*144T>G) c.238T>G (p.Cys80Gly) n.409T>G | |
3 | g.119807372G>A | CA354055861 | NR1I2 | c.122G>A (p.Cys41Tyr) c.*145G>A (n.*145G>A) c.239G>A (p.Cys80Tyr) n.410G>A | gnomAD v4 |
3 | g.119807372G>C | CA354055864 | NR1I2 | c.122G>C (p.Cys41Ser) c.*145G>C (n.*145G>C) c.239G>C (p.Cys80Ser) n.410G>C | |
3 | g.119807372G>T | CA354055862 | NR1I2 | c.122G>T (p.Cys41Phe) c.*145G>T (n.*145G>T) c.239G>T (p.Cys80Phe) n.410G>T | |
3 | g.119807373C>A | CA354055866 | NR1I2 | c.123C>A (p.Cys41Ter) c.*146C>A (n.*146C>A) c.240C>A (p.Cys80Ter) n.411C>A | |
3 | g.119807373C= | CA1396723505 | NR1I2 | c.123C= (p.Cys41=) c.*146C= (n.*146C=) c.240C= (p.Cys80=) n.411C= | |
3 | g.119807373C>G | CA354055868 | NR1I2 | c.123C>G (p.Cys41Trp) c.*146C>G (n.*146C>G) c.240C>G (p.Cys80Trp) n.411C>G | |
3 | g.119807373C>T | CA435219540 | NR1I2 | c.123C>T (p.Cys41=) c.*146C>T (n.*146C>T) c.240C>T (p.Cys80=) n.411C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807374C>A | CA354055869 | NR1I2 | c.124C>A (p.Arg42Ser) c.*147C>A (n.*147C>A) c.241C>A (p.Arg81Ser) n.412C>A | |
3 | g.119807374C= | CA1396723506 | NR1I2 | c.124C= (p.Arg42=) c.*147C= (n.*147C=) c.241C= (p.Arg81=) n.412C= | |
3 | g.119807374C>G | CA354055871 | NR1I2 | c.124C>G (p.Arg42Gly) c.*147C>G (n.*147C>G) c.241C>G (p.Arg81Gly) n.412C>G | |
3 | g.119807374C>T | CA2557737 | NR1I2 | c.124C>T (p.Arg42Cys) c.*147C>T (n.*147C>T) c.241C>T (p.Arg81Cys) n.412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807375G>A | CA2557738 | NR1I2 | c.125G>A (p.Arg42His) c.*148G>A (n.*148G>A) c.242G>A (p.Arg81His) n.413G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807375G>C | CA354055874 | NR1I2 | c.125G>C (p.Arg42Pro) c.*148G>C (n.*148G>C) c.242G>C (p.Arg81Pro) n.413G>C | gnomAD v4 |
3 | g.119807375G= | CA1396723507 | NR1I2 | c.125G= (p.Arg42=) c.*148G= (n.*148G=) c.242G= (p.Arg81=) n.413G= | |
3 | g.119807375G>T | CA354055875 | NR1I2 | c.125G>T (p.Arg42Leu) c.*148G>T (n.*148G>T) c.242G>T (p.Arg81Leu) n.413G>T | dbSNP COSMIC |
3 | g.119807376T>A | CA435219541 | NR1I2 | c.126T>A (p.Arg42=) c.*149T>A (n.*149T>A) c.243T>A (p.Arg81=) n.414T>A | |
3 | g.119807376T>C | CA435219543 | NR1I2 | c.126T>C (p.Arg42=) c.*149T>C (n.*149T>C) c.243T>C (p.Arg81=) n.414T>C | dbSNP |
3 | g.119807376T>G | CA435219542 | NR1I2 | c.126T>G (p.Arg42=) c.*149T>G (n.*149T>G) c.243T>G (p.Arg81=) n.414T>G | |
3 | g.119807376T= | CA1396723508 | NR1I2 | c.126T= (p.Arg42=) c.*149T= (n.*149T=) c.243T= (p.Arg81=) n.414T= | |
3 | g.119807377G>A | CA354055877 | NR1I2 | c.127G>A (p.Val43Ile) c.*150G>A (n.*150G>A) c.244G>A (p.Val82Ile) n.415G>A | |
3 | g.119807377G>C | CA354055878 | NR1I2 | c.127G>C (p.Val43Leu) c.*150G>C (n.*150G>C) c.244G>C (p.Val82Leu) n.415G>C | |
3 | g.119807377G>T | CA354055879 | NR1I2 | c.127G>T (p.Val43Leu) c.*150G>T (n.*150G>T) c.244G>T (p.Val82Leu) n.415G>T | |
3 | g.119807378T>A | CA354055880 | NR1I2 | c.128T>A (p.Val43Glu) c.*151T>A (n.*151T>A) c.245T>A (p.Val82Glu) n.416T>A | |
3 | g.119807378T>C | CA354055881 | NR1I2 | c.128T>C (p.Val43Ala) c.*151T>C (n.*151T>C) c.245T>C (p.Val82Ala) n.416T>C | |
3 | g.119807378T>G | CA354055882 | NR1I2 | c.128T>G (p.Val43Gly) c.*151T>G (n.*151T>G) c.245T>G (p.Val82Gly) n.416T>G | gnomAD v4 |
3 | g.119807379A>C | CA435219546 | NR1I2 | c.129A>C (p.Val43=) c.*152A>C (n.*152A>C) c.246A>C (p.Val82=) n.417A>C | |
3 | g.119807379A>G | CA435219547 | NR1I2 | c.129A>G (p.Val43=) c.*152A>G (n.*152A>G) c.246A>G (p.Val82=) n.417A>G | |
3 | g.119807379A>T | CA435219548 | NR1I2 | c.129A>T (p.Val43=) c.*152A>T (n.*152A>T) c.246A>T (p.Val82=) n.417A>T | |
3 | g.119807380T>A | CA354055883 | NR1I2 | c.130T>A (p.Cys44Ser) c.*153T>A (n.*153T>A) c.247T>A (p.Cys83Ser) n.418T>A | |
3 | g.119807380T>C | CA354055884 | NR1I2 | c.130T>C (p.Cys44Arg) c.*153T>C (n.*153T>C) c.247T>C (p.Cys83Arg) n.418T>C | gnomAD v4 |
3 | g.119807380T>G | CA354055885 | NR1I2 | c.130T>G (p.Cys44Gly) c.*153T>G (n.*153T>G) c.247T>G (p.Cys83Gly) n.418T>G | |
3 | g.119807381G>A | CA81750872 | NR1I2 | c.131G>A (p.Cys44Tyr) c.*154G>A (n.*154G>A) c.248G>A (p.Cys83Tyr) n.419G>A | dbSNP gnomAD v4 |
3 | g.119807381G>C | CA354055887 | NR1I2 | c.131G>C (p.Cys44Ser) c.*154G>C (n.*154G>C) c.248G>C (p.Cys83Ser) n.419G>C | |
3 | g.119807381G= | CA1396723509 | NR1I2 | c.131G= (p.Cys44=) c.*154G= (n.*154G=) c.248G= (p.Cys83=) n.419G= | |
3 | g.119807381G>T | CA354055886 | NR1I2 | c.131G>T (p.Cys44Phe) c.*154G>T (n.*154G>T) c.248G>T (p.Cys83Phe) n.419G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807382T>A | CA354055888 | NR1I2 | c.132T>A (p.Cys44Ter) c.*155T>A (n.*155T>A) c.249T>A (p.Cys83Ter) n.420T>A | |
3 | g.119807382T>C | CA2557739 | NR1I2 | c.132T>C (p.Cys44=) c.*155T>C (n.*155T>C) c.249T>C (p.Cys83=) n.420T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807382T>G | CA354055891 | NR1I2 | c.132T>G (p.Cys44Trp) c.*155T>G (n.*155T>G) c.249T>G (p.Cys83Trp) n.420T>G | |
3 | g.119807382T= | CA1396723510 | NR1I2 | c.132T= (p.Cys44=) c.*155T= (n.*155T=) c.249T= (p.Cys83=) n.420T= | |
3 | g.119807383G>A | CA354055892 | NR1I2 | c.133G>A (p.Gly45Arg) c.*156G>A (n.*156G>A) c.250G>A (p.Gly84Arg) n.421G>A | gnomAD v4 |
3 | g.119807383G>C | CA354055893 | NR1I2 | c.133G>C (p.Gly45Arg) c.*156G>C (n.*156G>C) c.250G>C (p.Gly84Arg) n.421G>C | |
3 | g.119807383G>T | CA354055895 | NR1I2 | c.133G>T (p.Gly45Trp) c.*156G>T (n.*156G>T) c.250G>T (p.Gly84Trp) n.421G>T | |
3 | g.119807386dup | CA2667141654 | NR1I2 | c.136dup (p.Asp46GlyfsTer14) c.*159dup (n.*159dup) c.253dup (p.Asp85GlyfsTer14) n.424dup | gnomAD v4 |
3 | g.119807384G>A | CA2557740 | NR1I2 | c.134G>A (p.Gly45Glu) c.*157G>A (n.*157G>A) c.251G>A (p.Gly84Glu) n.422G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119807384G>C | CA354055897 | NR1I2 | c.134G>C (p.Gly45Ala) c.*157G>C (n.*157G>C) c.251G>C (p.Gly84Ala) n.422G>C | |
3 | g.119807384G= | CA1396723511 | NR1I2 | c.134G= (p.Gly45=) c.*157G= (n.*157G=) c.251G= (p.Gly84=) n.422G= | |
3 | g.119807384G>T | CA354055898 | NR1I2 | c.134G>T (p.Gly45Val) c.*157G>T (n.*157G>T) c.251G>T (p.Gly84Val) n.422G>T | |
3 | g.119807385G>A | CA435219549 | NR1I2 | c.135G>A (p.Gly45=) c.*158G>A (n.*158G>A) c.252G>A (p.Gly84=) n.423G>A | dbSNP gnomAD v4 |
3 | g.119807385G>C | CA435219550 | NR1I2 | c.135G>C (p.Gly45=) c.*158G>C (n.*158G>C) c.252G>C (p.Gly84=) n.423G>C | |
3 | g.119807385G= | CA1396723512 | NR1I2 | c.135G= (p.Gly45=) c.*158G= (n.*158G=) c.252G= (p.Gly84=) n.423G= | |
3 | g.119807385G>T | CA435219551 | NR1I2 | c.135G>T (p.Gly45=) c.*158G>T (n.*158G>T) c.252G>T (p.Gly84=) n.423G>T | gnomAD v4 |
3 | g.119807386G>A | CA2557742 | NR1I2 | c.136G>A (p.Asp46Asn) c.*159G>A (n.*159G>A) c.253G>A (p.Asp85Asn) n.424G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807386G>C | CA354055902 | NR1I2 | c.136G>C (p.Asp46His) c.*159G>C (n.*159G>C) c.253G>C (p.Asp85His) n.424G>C | |
3 | g.119807386G= | CA1396723513 | NR1I2 | c.136G= (p.Asp46=) c.*159G= (n.*159G=) c.253G= (p.Asp85=) n.424G= | |
3 | g.119807386G>T | CA2557741 | NR1I2 | c.136G>T (p.Asp46Tyr) c.*159G>T (n.*159G>T) c.253G>T (p.Asp85Tyr) n.424G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807387A>C | CA354055904 | NR1I2 | c.137A>C (p.Asp46Ala) c.*160A>C (n.*160A>C) c.254A>C (p.Asp85Ala) n.425A>C | |
3 | g.119807387A>G | CA354055907 | NR1I2 | c.137A>G (p.Asp46Gly) c.*160A>G (n.*160A>G) c.254A>G (p.Asp85Gly) n.425A>G | |
3 | g.119807387A>T | CA354055908 | NR1I2 | c.137A>T (p.Asp46Val) c.*160A>T (n.*160A>T) c.254A>T (p.Asp85Val) n.425A>T | |
3 | g.119807388C>A | CA354055910 | NR1I2 | c.138C>A (p.Asp46Glu) c.*161C>A (n.*161C>A) c.255C>A (p.Asp85Glu) n.426C>A | |
3 | g.119807388C>G | CA354055912 | NR1I2 | c.138C>G (p.Asp46Glu) c.*161C>G (n.*161C>G) c.255C>G (p.Asp85Glu) n.426C>G | |
3 | g.119807388C>T | CA435219553 | NR1I2 | c.138C>T (p.Asp46=) c.*161C>T (n.*161C>T) c.255C>T (p.Asp85=) n.426C>T | gnomAD v3 gnomAD v4 |
3 | g.119807389A= | CA1396723514 | NR1I2 | c.139A= (p.Lys47=) c.*162A= (n.*162A=) c.256A= (p.Lys86=) n.427A= | |
3 | g.119807389A>C | CA354055917 | NR1I2 | c.139A>C (p.Lys47Gln) c.*162A>C (n.*162A>C) c.256A>C (p.Lys86Gln) n.427A>C | |
3 | g.119807389A>G | CA354055915 | NR1I2 | c.139A>G (p.Lys47Glu) c.*162A>G (n.*162A>G) c.256A>G (p.Lys86Glu) n.427A>G | |
3 | g.119807389A>T | CA354055913 | NR1I2 | c.139A>T (p.Lys47Ter) c.*162A>T (n.*162A>T) c.256A>T (p.Lys86Ter) n.427A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807390A>C | CA354055919 | NR1I2 | c.140A>C (p.Lys47Thr) c.*163A>C (n.*163A>C) c.257A>C (p.Lys86Thr) n.428A>C | COSMIC |
3 | g.119807390A>G | CA354055920 | NR1I2 | c.140A>G (p.Lys47Arg) c.*163A>G (n.*163A>G) c.257A>G (p.Lys86Arg) n.428A>G | dbSNP |
3 | g.119807390A>T | CA354055922 | NR1I2 | c.140A>T (p.Lys47Met) c.*163A>T (n.*163A>T) c.257A>T (p.Lys86Met) n.428A>T | |
3 | g.119807391G>A | CA2557743 | NR1I2 | c.141G>A (p.Lys47=) c.*164G>A (n.*164G>A) c.258G>A (p.Lys86=) n.429G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807391G>C | CA354055924 | NR1I2 | c.141G>C (p.Lys47Asn) c.*164G>C (n.*164G>C) c.258G>C (p.Lys86Asn) n.429G>C | |
3 | g.119807391G= | CA1396723515 | NR1I2 | c.141G= (p.Lys47=) c.*164G= (n.*164G=) c.258G= (p.Lys86=) n.429G= | |
3 | g.119807391G>T | CA354055926 | NR1I2 | c.141G>T (p.Lys47Asn) c.*164G>T (n.*164G>T) c.258G>T (p.Lys86Asn) n.429G>T | |
3 | g.119807392G>A | CA354055928 | NR1I2 | c.142G>A (p.Ala48Thr) c.*165G>A (n.*165G>A) c.259G>A (p.Ala87Thr) n.430G>A | |
3 | g.119807392G>C | CA354055931 | NR1I2 | c.142G>C (p.Ala48Pro) c.*165G>C (n.*165G>C) c.259G>C (p.Ala87Pro) n.430G>C | |
3 | g.119807392G>T | CA354055929 | NR1I2 | c.142G>T (p.Ala48Ser) c.*165G>T (n.*165G>T) c.259G>T (p.Ala87Ser) n.430G>T | |
3 | g.119807393C>A | CA354055932 | NR1I2 | c.143C>A (p.Ala48Asp) c.*166C>A (n.*166C>A) c.260C>A (p.Ala87Asp) n.431C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807393C= | CA1396723516 | NR1I2 | c.143C= (p.Ala48=) c.*166C= (n.*166C=) c.260C= (p.Ala87=) n.431C= | |
3 | g.119807393C>G | CA354055934 | NR1I2 | c.143C>G (p.Ala48Gly) c.*166C>G (n.*166C>G) c.260C>G (p.Ala87Gly) n.431C>G | |
3 | g.119807393C>T | CA354055936 | NR1I2 | c.143C>T (p.Ala48Val) c.*166C>T (n.*166C>T) c.260C>T (p.Ala87Val) n.431C>T | gnomAD v4 |
3 | g.119807394C>A | CA435219556 | NR1I2 | c.144C>A (p.Ala48=) c.*167C>A (n.*167C>A) c.261C>A (p.Ala87=) n.432C>A | |
3 | g.119807394C>G | CA435219557 | NR1I2 | c.144C>G (p.Ala48=) c.*167C>G (n.*167C>G) c.261C>G (p.Ala87=) n.432C>G | |
3 | g.119807394C>T | CA435219558 | NR1I2 | c.144C>T (p.Ala48=) c.*167C>T (n.*167C>T) c.261C>T (p.Ala87=) n.432C>T | |
3 | g.119807395A>C | CA354055937 | NR1I2 | c.145A>C (p.Thr49Pro) c.*168A>C (n.*168A>C) c.262A>C (p.Thr88Pro) n.433A>C | |
3 | g.119807395A>G | CA354055939 | NR1I2 | c.145A>G (p.Thr49Ala) c.*168A>G (n.*168A>G) c.262A>G (p.Thr88Ala) n.433A>G | |
3 | g.119807395A>T | CA354055941 | NR1I2 | c.145A>T (p.Thr49Ser) c.*168A>T (n.*168A>T) c.262A>T (p.Thr88Ser) n.433A>T | |
3 | g.119807396C>A | CA354055943 | NR1I2 | c.146C>A (p.Thr49Asn) c.*169C>A (n.*169C>A) c.263C>A (p.Thr88Asn) n.434C>A | |
3 | g.119807396C>G | CA354055945 | NR1I2 | c.146C>G (p.Thr49Ser) c.*169C>G (n.*169C>G) c.263C>G (p.Thr88Ser) n.434C>G | |
3 | g.119807396C>T | CA354055947 | NR1I2 | c.146C>T (p.Thr49Ile) c.*169C>T (n.*169C>T) c.263C>T (p.Thr88Ile) n.434C>T | |
3 | g.119807397T>A | CA435219563 | NR1I2 | c.147T>A (p.Thr49=) c.*170T>A (n.*170T>A) c.264T>A (p.Thr88=) n.435T>A | |
3 | g.119807397T>C | CA435219562 | NR1I2 | c.147T>C (p.Thr49=) c.*170T>C (n.*170T>C) c.264T>C (p.Thr88=) n.435T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807397T>G | CA435219564 | NR1I2 | c.147T>G (p.Thr49=) c.*170T>G (n.*170T>G) c.264T>G (p.Thr88=) n.435T>G | |
3 | g.119807397T= | CA1396723517 | NR1I2 | c.147T= (p.Thr49=) c.*170T= (n.*170T=) c.264T= (p.Thr88=) n.435T= | |
3 | g.119807398G>A | CA354055948 | NR1I2 | c.148G>A (p.Gly50Ser) c.*171G>A (n.*171G>A) c.265G>A (p.Gly89Ser) n.436G>A | dbSNP COSMIC |
3 | g.119807398G>C | CA354055950 | NR1I2 | c.148G>C (p.Gly50Arg) c.*171G>C (n.*171G>C) c.265G>C (p.Gly89Arg) n.436G>C | |
3 | g.119807398G= | CA1396723518 | NR1I2 | c.148G= (p.Gly50=) c.*171G= (n.*171G=) c.265G= (p.Gly89=) n.436G= | |
3 | g.119807398G>T | CA2557744 | NR1I2 | c.148G>T (p.Gly50Cys) c.*171G>T (n.*171G>T) c.265G>T (p.Gly89Cys) n.436G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807399G>A | CA354055955 | NR1I2 | c.149G>A (p.Gly50Asp) c.*172G>A (n.*172G>A) c.266G>A (p.Gly89Asp) n.437G>A | |
3 | g.119807399G>C | CA354055953 | NR1I2 | c.149G>C (p.Gly50Ala) c.*172G>C (n.*172G>C) c.266G>C (p.Gly89Ala) n.437G>C | |
3 | g.119807399G= | CA1396723519 | NR1I2 | c.149G= (p.Gly50=) c.*172G= (n.*172G=) c.266G= (p.Gly89=) n.437G= | |
3 | g.119807399G>T | CA81750892 | NR1I2 | c.149G>T (p.Gly50Val) c.*172G>T (n.*172G>T) c.266G>T (p.Gly89Val) n.437G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807400C>A | CA435219565 | NR1I2 | c.150C>A (p.Gly50=) c.*173C>A (n.*173C>A) c.267C>A (p.Gly89=) n.438C>A | |
3 | g.119807400C>G | CA435219567 | NR1I2 | c.150C>G (p.Gly50=) c.*173C>G (n.*173C>G) c.267C>G (p.Gly89=) n.438C>G | |
3 | g.119807400C>T | CA435219568 | NR1I2 | c.150C>T (p.Gly50=) c.*173C>T (n.*173C>T) c.267C>T (p.Gly89=) n.438C>T | |
3 | g.119807401T>A | CA354055957 | NR1I2 | c.151T>A (p.Tyr51Asn) c.*174T>A (n.*174T>A) c.268T>A (p.Tyr90Asn) n.439T>A | |
3 | g.119807401T>C | CA354055956 | NR1I2 | c.151T>C (p.Tyr51His) c.*174T>C (n.*174T>C) c.268T>C (p.Tyr90His) n.439T>C | |
3 | g.119807401T>G | CA354055958 | NR1I2 | c.151T>G (p.Tyr51Asp) c.*174T>G (n.*174T>G) c.268T>G (p.Tyr90Asp) n.439T>G |