OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135446654_135446671del | CA2675371877 | DCANP1,TIFAB | c.*2784_*2801del (n.*2784_*2801del) c.439_456del (p.Ser147_His152del) | gnomAD v4 |
| 5 | g.135446663C>A | CA361020508 | DCANP1,TIFAB | c.*2791G>T (n.*2791G>T) c.446G>T (p.Gly149Val) | |
| 5 | g.135446663C= | CA1584519413 | DCANP1,TIFAB | c.*2791G= (n.*2791G=) c.446G= (p.Gly149=) | |
| 5 | g.135446663C>G | CA361020509 | DCANP1,TIFAB | c.*2791G>C (n.*2791G>C) c.446G>C (p.Gly149Ala) | |
| 5 | g.135446663C>T | CA361020510 | DCANP1,TIFAB | c.*2791G>A (n.*2791G>A) c.446G>A (p.Gly149Glu) | dbSNP |
| 5 | g.135446665del | CA2675371878 | DCANP1,TIFAB | c.*2791del (n.*2791del) c.446del (p.Gly149GlufsTer25) | gnomAD v4 |
| 5 | g.135446664C>A | CA361020511 | DCANP1,TIFAB | c.*2790G>T (n.*2790G>T) c.445G>T (p.Gly149Ter) | |
| 5 | g.135446664C= | CA1584519414 | DCANP1,TIFAB | c.*2790G= (n.*2790G=) c.445G= (p.Gly149=) | |
| 5 | g.135446664C>G | CA361020512 | DCANP1,TIFAB | c.*2790G>C (n.*2790G>C) c.445G>C (p.Gly149Arg) | |
| 5 | g.135446664C>T | CA128012272 | DCANP1,TIFAB | c.*2790G>A (n.*2790G>A) c.445G>A (p.Gly149Arg) | dbSNP |
| 5 | g.135446665C>A | CA446784780 | DCANP1,TIFAB | c.*2789G>T (n.*2789G>T) c.444G>T (p.Pro148=) | |
| 5 | g.135446665C= | CA1584519415 | DCANP1,TIFAB | c.*2789G= (n.*2789G=) c.444G= (p.Pro148=) | |
| 5 | g.135446665C>G | CA446784781 | DCANP1,TIFAB | c.*2789G>C (n.*2789G>C) c.444G>C (p.Pro148=) | |
| 5 | g.135446665C>T | CA3418239 | DCANP1,TIFAB | c.*2789G>A (n.*2789G>A) c.444G>A (p.Pro148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446666G>A | CA128012301 | DCANP1,TIFAB | c.*2788C>T (n.*2788C>T) c.443C>T (p.Pro148Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446666G>C | CA361020513 | DCANP1,TIFAB | c.*2788C>G (n.*2788C>G) c.443C>G (p.Pro148Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446666G= | CA1584519416 | DCANP1,TIFAB | c.*2788C= (n.*2788C=) c.443C= (p.Pro148=) | |
| 5 | g.135446666G>T | CA361020514 | DCANP1,TIFAB | c.*2788C>A (n.*2788C>A) c.443C>A (p.Pro148Gln) | |
| 5 | g.135446667G>A | CA361020515 | DCANP1,TIFAB | c.*2787C>T (n.*2787C>T) c.442C>T (p.Pro148Ser) | gnomAD v4 |
| 5 | g.135446667G>C | CA361020516 | DCANP1,TIFAB | c.*2787C>G (n.*2787C>G) c.442C>G (p.Pro148Ala) | |
| 5 | g.135446667G>T | CA361020517 | DCANP1,TIFAB | c.*2787C>A (n.*2787C>A) c.442C>A (p.Pro148Thr) | |
| 5 | g.135446668T>A | CA446784782 | DCANP1,TIFAB | c.*2786A>T (n.*2786A>T) c.441A>T (p.Ser147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446668T>C | CA446784783 | DCANP1,TIFAB | c.*2786A>G (n.*2786A>G) c.441A>G (p.Ser147=) | |
| 5 | g.135446668T>G | CA446784784 | DCANP1,TIFAB | c.*2786A>C (n.*2786A>C) c.441A>C (p.Ser147=) | dbSNP gnomAD v4 |
| 5 | g.135446668T= | CA1584519417 | DCANP1,TIFAB | c.*2786A= (n.*2786A=) c.441A= (p.Ser147=) | |
| 5 | g.135446669G>A | CA361020518 | DCANP1,TIFAB | c.*2785C>T (n.*2785C>T) c.440C>T (p.Ser147Leu) | gnomAD v4 |
| 5 | g.135446669G>C | CA361020519 | DCANP1,TIFAB | c.*2785C>G (n.*2785C>G) c.440C>G (p.Ser147Ter) | |
| 5 | g.135446669G>T | CA361020520 | DCANP1,TIFAB | c.*2785C>A (n.*2785C>A) c.440C>A (p.Ser147Ter) | |
| 5 | g.135446670A>C | CA361020521 | DCANP1,TIFAB | c.*2784T>G (n.*2784T>G) c.439T>G (p.Ser147Ala) | |
| 5 | g.135446670A>G | CA361020522 | DCANP1,TIFAB | c.*2784T>C (n.*2784T>C) c.439T>C (p.Ser147Pro) | |
| 5 | g.135446670A>T | CA361020523 | DCANP1,TIFAB | c.*2784T>A (n.*2784T>A) c.439T>A (p.Ser147Thr) | |
| 5 | g.135446671G>A | CA446784785 | DCANP1,TIFAB | c.*2783C>T (n.*2783C>T) c.438C>T (p.Val146=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446671G>C | CA446784786 | DCANP1,TIFAB | c.*2783C>G (n.*2783C>G) c.438C>G (p.Val146=) | |
| 5 | g.135446671G= | CA1584519418 | DCANP1,TIFAB | c.*2783C= (n.*2783C=) c.438C= (p.Val146=) | |
| 5 | g.135446671G>T | CA446784787 | DCANP1,TIFAB | c.*2783C>A (n.*2783C>A) c.438C>A (p.Val146=) | |
| 5 | g.135446672A= | CA1584519419 | DCANP1,TIFAB | c.*2782T= (n.*2782T=) c.437T= (p.Val146=) | |
| 5 | g.135446672A>C | CA361020524 | DCANP1,TIFAB | c.*2782T>G (n.*2782T>G) c.437T>G (p.Val146Gly) | |
| 5 | g.135446672A>G | CA128012311 | DCANP1,TIFAB | c.*2782T>C (n.*2782T>C) c.437T>C (p.Val146Ala) | dbSNP |
| 5 | g.135446672A>T | CA361020525 | DCANP1,TIFAB | c.*2782T>A (n.*2782T>A) c.437T>A (p.Val146Asp) | |
| 5 | g.135446673C>A | CA361020526 | DCANP1,TIFAB | c.*2781G>T (n.*2781G>T) c.436G>T (p.Val146Phe) | |
| 5 | g.135446673C= | CA1584519420 | DCANP1,TIFAB | c.*2781G= (n.*2781G=) c.436G= (p.Val146=) | |
| 5 | g.135446673C>G | CA361020527 | DCANP1,TIFAB | c.*2781G>C (n.*2781G>C) c.436G>C (p.Val146Leu) | |
| 5 | g.135446673C>T | CA128012315 | DCANP1,TIFAB | c.*2781G>A (n.*2781G>A) c.436G>A (p.Val146Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446674T>A | CA446784790 | DCANP1,TIFAB | c.*2780A>T (n.*2780A>T) c.435A>T (p.Thr145=) | |
| 5 | g.135446674T>C | CA446784788 | DCANP1,TIFAB | c.*2780A>G (n.*2780A>G) c.435A>G (p.Thr145=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135446674T>G | CA446784789 | DCANP1,TIFAB | c.*2780A>C (n.*2780A>C) c.435A>C (p.Thr145=) | gnomAD v4 |
| 5 | g.135446674T= | CA1584519421 | DCANP1,TIFAB | c.*2780A= (n.*2780A=) c.435A= (p.Thr145=) | |
| 5 | g.135446678_135446679del | CA2524783827 | DCANP1,TIFAB | c.*2779_*2780del (n.*2779_*2780del) c.434_435del (p.Thr145SerfsTer15) | gnomAD v4 |
| 5 | g.135446675G>A | CA361020528 | DCANP1,TIFAB | c.*2779C>T (n.*2779C>T) c.434C>T (p.Thr145Ile) | gnomAD v4 |
| 5 | g.135446675G>C | CA361020529 | DCANP1,TIFAB | c.*2779C>G (n.*2779C>G) c.434C>G (p.Thr145Arg) | |
| 5 | g.135446675G>T | CA361020530 | DCANP1,TIFAB | c.*2779C>A (n.*2779C>A) c.434C>A (p.Thr145Lys) | |
| 5 | g.135446676T>A | CA361020531 | DCANP1,TIFAB | c.*2778A>T (n.*2778A>T) c.433A>T (p.Thr145Ser) | |
| 5 | g.135446676T>C | CA361020532 | DCANP1,TIFAB | c.*2778A>G (n.*2778A>G) c.433A>G (p.Thr145Ala) | |
| 5 | g.135446676T>G | CA361020533 | DCANP1,TIFAB | c.*2778A>C (n.*2778A>C) c.433A>C (p.Thr145Pro) | |
| 5 | g.135446676_135446679delinsTGTG | CA1584519422 | DCANP1,TIFAB | c.*2775_*2778delinsCACA (n.*2775_*2778delinsCACA) c.430_433delinsCACA (p.His144=) | |
| 5 | g.135446677G>A | CA446784791 | DCANP1,TIFAB | c.*2777C>T (n.*2777C>T) c.432C>T (p.His144=) | dbSNP gnomAD v4 |
| 5 | g.135446677G>C | CA361020534 | DCANP1,TIFAB | c.*2777C>G (n.*2777C>G) c.432C>G (p.His144Gln) | |
| 5 | g.135446677G= | CA1584519424 | DCANP1,TIFAB | c.*2777C= (n.*2777C=) c.432C= (p.His144=) | |
| 5 | g.135446677G>T | CA361020535 | DCANP1,TIFAB | c.*2777C>A (n.*2777C>A) c.432C>A (p.His144Gln) | |
| 5 | g.135446677_135446679del | CA1584519423 | DCANP1,TIFAB | c.*2775_*2777del (n.*2775_*2777del) c.430_432del (p.His144del) | dbSNP gnomAD v4 |
| 5 | g.135446678T>A | CA361020536 | DCANP1,TIFAB | c.*2776A>T (n.*2776A>T) c.431A>T (p.His144Leu) | gnomAD v4 |
| 5 | g.135446678T>C | CA361020537 | DCANP1,TIFAB | c.*2776A>G (n.*2776A>G) c.431A>G (p.His144Arg) | |
| 5 | g.135446678T>G | CA361020538 | DCANP1,TIFAB | c.*2776A>C (n.*2776A>C) c.431A>C (p.His144Pro) | gnomAD v4 |
| 5 | g.135446679G>A | CA361020539 | DCANP1,TIFAB | c.*2775C>T (n.*2775C>T) c.430C>T (p.His144Tyr) | gnomAD v4 |
| 5 | g.135446679G>C | CA361020540 | DCANP1,TIFAB | c.*2775C>G (n.*2775C>G) c.430C>G (p.His144Asp) | |
| 5 | g.135446679G>T | CA361020541 | DCANP1,TIFAB | c.*2775C>A (n.*2775C>A) c.430C>A (p.His144Asn) | |
| 5 | g.135446680A>C | CA446784792 | DCANP1,TIFAB | c.*2774T>G (n.*2774T>G) c.429T>G (p.Val143=) | |
| 5 | g.135446680A>G | CA446784794 | DCANP1,TIFAB | c.*2774T>C (n.*2774T>C) c.429T>C (p.Val143=) | |
| 5 | g.135446680A>T | CA446784793 | DCANP1,TIFAB | c.*2774T>A (n.*2774T>A) c.429T>A (p.Val143=) | |
| 5 | g.135446681A>C | CA361020544 | DCANP1,TIFAB | c.*2773T>G (n.*2773T>G) c.428T>G (p.Val143Gly) | |
| 5 | g.135446681A>G | CA361020543 | DCANP1,TIFAB | c.*2773T>C (n.*2773T>C) c.428T>C (p.Val143Ala) | |
| 5 | g.135446681A>T | CA361020542 | DCANP1,TIFAB | c.*2773T>A (n.*2773T>A) c.428T>A (p.Val143Asp) | |
| 5 | g.135446682C>A | CA3418240 | DCANP1,TIFAB | c.*2772G>T (n.*2772G>T) c.427G>T (p.Val143Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446682C= | CA1584519425 | DCANP1,TIFAB | c.*2772G= (n.*2772G=) c.427G= (p.Val143=) | |
| 5 | g.135446682C>G | CA361020545 | DCANP1,TIFAB | c.*2772G>C (n.*2772G>C) c.427G>C (p.Val143Leu) | |
| 5 | g.135446682C>T | CA361020546 | DCANP1,TIFAB | c.*2772G>A (n.*2772G>A) c.427G>A (p.Val143Ile) | gnomAD v4 |
| 5 | g.135446683T>A | CA446784795 | DCANP1,TIFAB | c.*2771A>T (n.*2771A>T) c.426A>T (p.Thr142=) | |
| 5 | g.135446683T>C | CA446784796 | DCANP1,TIFAB | c.*2771A>G (n.*2771A>G) c.426A>G (p.Thr142=) | |
| 5 | g.135446683T>G | CA446784797 | DCANP1,TIFAB | c.*2771A>C (n.*2771A>C) c.426A>C (p.Thr142=) | |
| 5 | g.135446684G>A | CA361020547 | DCANP1,TIFAB | c.*2770C>T (n.*2770C>T) c.425C>T (p.Thr142Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135446684G>C | CA361020548 | DCANP1,TIFAB | c.*2770C>G (n.*2770C>G) c.425C>G (p.Thr142Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446684G= | CA1584519426 | DCANP1,TIFAB | c.*2770C= (n.*2770C=) c.425C= (p.Thr142=) | |
| 5 | g.135446684G>T | CA361020549 | DCANP1,TIFAB | c.*2770C>A (n.*2770C>A) c.425C>A (p.Thr142Lys) | |
| 5 | g.135446685T>A | CA361020550 | DCANP1,TIFAB | c.*2769A>T (n.*2769A>T) c.424A>T (p.Thr142Ser) | |
| 5 | g.135446685T>C | CA361020551 | DCANP1,TIFAB | c.*2769A>G (n.*2769A>G) c.424A>G (p.Thr142Ala) | gnomAD v4 |
| 5 | g.135446685T>G | CA361020552 | DCANP1,TIFAB | c.*2769A>C (n.*2769A>C) c.424A>C (p.Thr142Pro) | gnomAD v4 |
| 5 | g.135446686G>A | CA446784798 | DCANP1,TIFAB | c.*2768C>T (n.*2768C>T) c.423C>T (p.Phe141=) | |
| 5 | g.135446686G>C | CA361020553 | DCANP1,TIFAB | c.*2768C>G (n.*2768C>G) c.423C>G (p.Phe141Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446686G= | CA1584519427 | DCANP1,TIFAB | c.*2768C= (n.*2768C=) c.423C= (p.Phe141=) | |
| 5 | g.135446686G>T | CA361020554 | DCANP1,TIFAB | c.*2768C>A (n.*2768C>A) c.423C>A (p.Phe141Leu) | |
| 5 | g.135446687A>C | CA361020555 | DCANP1,TIFAB | c.*2767T>G (n.*2767T>G) c.422T>G (p.Phe141Cys) | |
| 5 | g.135446687A>G | CA361020556 | DCANP1,TIFAB | c.*2767T>C (n.*2767T>C) c.422T>C (p.Phe141Ser) | |
| 5 | g.135446687A>T | CA361020557 | DCANP1,TIFAB | c.*2767T>A (n.*2767T>A) c.422T>A (p.Phe141Tyr) | |
| 5 | g.135446688A>C | CA361020559 | DCANP1,TIFAB | c.*2766T>G (n.*2766T>G) c.421T>G (p.Phe141Val) | |
| 5 | g.135446688A>G | CA361020560 | DCANP1,TIFAB | c.*2766T>C (n.*2766T>C) c.421T>C (p.Phe141Leu) | |
| 5 | g.135446688A>T | CA361020558 | DCANP1,TIFAB | c.*2766T>A (n.*2766T>A) c.421T>A (p.Phe141Ile) | |
| 5 | g.135446689C>A | CA3418242 | DCANP1,TIFAB | c.*2765G>T (n.*2765G>T) c.420G>T (p.Pro140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446689C= | CA1584519428 | DCANP1,TIFAB | c.*2765G= (n.*2765G=) c.420G= (p.Pro140=) | |
| 5 | g.135446689C>G | CA446784799 | DCANP1,TIFAB | c.*2765G>C (n.*2765G>C) c.420G>C (p.Pro140=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135446689C>T | CA3418241 | DCANP1,TIFAB | c.*2765G>A (n.*2765G>A) c.420G>A (p.Pro140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135446689_135446690insT | CA2675371879 | DCANP1,TIFAB | c.*2764_*2765insA (n.*2764_*2765insA) c.419_420insA (p.Phe141ValfsTer20) | gnomAD v4 |
| 5 | g.135446690G>A | CA3418243 | DCANP1,TIFAB | c.*2764C>T (n.*2764C>T) c.419C>T (p.Pro140Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446690G>C | CA361020561 | DCANP1,TIFAB | c.*2764C>G (n.*2764C>G) c.419C>G (p.Pro140Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135446690G= | CA1584519429 | DCANP1,TIFAB | c.*2764C= (n.*2764C=) c.419C= (p.Pro140=) | |
| 5 | g.135446690G>T | CA361020562 | DCANP1,TIFAB | c.*2764C>A (n.*2764C>A) c.419C>A (p.Pro140Gln) | gnomAD v4 |
| 5 | g.135446690_135446691insT | CA2675371880 | DCANP1,TIFAB | c.*2763_*2764insA (n.*2763_*2764insA) c.418_419insA (p.Pro140HisfsTer21) | gnomAD v4 |
| 5 | g.135446691G>A | CA361020563 | DCANP1,TIFAB | c.*2763C>T (n.*2763C>T) c.418C>T (p.Pro140Ser) | |
| 5 | g.135446691G>C | CA361020565 | DCANP1,TIFAB | c.*2763C>G (n.*2763C>G) c.418C>G (p.Pro140Ala) | |
| 5 | g.135446691G>T | CA361020564 | DCANP1,TIFAB | c.*2763C>A (n.*2763C>A) c.418C>A (p.Pro140Thr) | gnomAD v4 |
| 5 | g.135446692G>A | CA446784800 | DCANP1,TIFAB | c.*2762C>T (n.*2762C>T) c.417C>T (p.Tyr139=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446692G>C | CA361020566 | DCANP1,TIFAB | c.*2762C>G (n.*2762C>G) c.417C>G (p.Tyr139Ter) | |
| 5 | g.135446692G= | CA1584519430 | DCANP1,TIFAB | c.*2762C= (n.*2762C=) c.417C= (p.Tyr139=) | |
| 5 | g.135446692G>T | CA361020567 | DCANP1,TIFAB | c.*2762C>A (n.*2762C>A) c.417C>A (p.Tyr139Ter) | gnomAD v4 |
| 5 | g.135446693T>A | CA361020568 | DCANP1,TIFAB | c.*2761A>T (n.*2761A>T) c.416A>T (p.Tyr139Phe) | COSMIC |
| 5 | g.135446693T>C | CA361020569 | DCANP1,TIFAB | c.*2761A>G (n.*2761A>G) c.416A>G (p.Tyr139Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446693T>G | CA361020570 | DCANP1,TIFAB | c.*2761A>C (n.*2761A>C) c.416A>C (p.Tyr139Ser) | |
| 5 | g.135446693T= | CA1584519431 | DCANP1,TIFAB | c.*2761A= (n.*2761A=) c.416A= (p.Tyr139=) | |
| 5 | g.135446694A>C | CA361020571 | DCANP1,TIFAB | c.*2760T>G (n.*2760T>G) c.415T>G (p.Tyr139Asp) | |
| 5 | g.135446694A>G | CA361020572 | DCANP1,TIFAB | c.*2760T>C (n.*2760T>C) c.415T>C (p.Tyr139His) | |
| 5 | g.135446694A>T | CA361020573 | DCANP1,TIFAB | c.*2760T>A (n.*2760T>A) c.415T>A (p.Tyr139Asn) | |
| 5 | g.135446695G>A | CA446784801 | DCANP1,TIFAB | c.*2759C>T (n.*2759C>T) c.414C>T (p.Leu138=) | |
| 5 | g.135446695G>C | CA128012340 | DCANP1,TIFAB | c.*2759C>G (n.*2759C>G) c.414C>G (p.Leu138=) | dbSNP |
| 5 | g.135446695G= | CA1584519432 | DCANP1,TIFAB | c.*2759C= (n.*2759C=) c.414C= (p.Leu138=) | |
| 5 | g.135446695G>T | CA446784802 | DCANP1,TIFAB | c.*2759C>A (n.*2759C>A) c.414C>A (p.Leu138=) | gnomAD v4 |
| 5 | g.135446696A>C | CA361020574 | DCANP1,TIFAB | c.*2758T>G (n.*2758T>G) c.413T>G (p.Leu138Arg) | |
| 5 | g.135446696A>G | CA361020575 | DCANP1,TIFAB | c.*2758T>C (n.*2758T>C) c.413T>C (p.Leu138Pro) | |
| 5 | g.135446696A>T | CA361020576 | DCANP1,TIFAB | c.*2758T>A (n.*2758T>A) c.413T>A (p.Leu138His) | |
| 5 | g.135446697G>A | CA128012341 | DCANP1,TIFAB | c.*2757C>T (n.*2757C>T) c.412C>T (p.Leu138Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135446697G>C | CA361020578 | DCANP1,TIFAB | c.*2757C>G (n.*2757C>G) c.412C>G (p.Leu138Val) | |
| 5 | g.135446697G= | CA1584519433 | DCANP1,TIFAB | c.*2757C= (n.*2757C=) c.412C= (p.Leu138=) | |
| 5 | g.135446697G>T | CA361020577 | DCANP1,TIFAB | c.*2757C>A (n.*2757C>A) c.412C>A (p.Leu138Ile) | |
| 5 | g.135446698T>A | CA361020579 | DCANP1,TIFAB | c.*2756A>T (n.*2756A>T) c.411A>T (p.Arg137Ser) | |
| 5 | g.135446698T>C | CA446784803 | DCANP1,TIFAB | c.*2756A>G (n.*2756A>G) c.411A>G (p.Arg137=) | |
| 5 | g.135446698T>G | CA361020580 | DCANP1,TIFAB | c.*2756A>C (n.*2756A>C) c.411A>C (p.Arg137Ser) | |
| 5 | g.135446699C>A | CA361020581 | DCANP1,TIFAB | c.*2755G>T (n.*2755G>T) c.410G>T (p.Arg137Ile) | gnomAD v4 |
| 5 | g.135446699C>G | CA361020582 | DCANP1,TIFAB | c.*2755G>C (n.*2755G>C) c.410G>C (p.Arg137Thr) | |
| 5 | g.135446699C>T | CA361020583 | DCANP1,TIFAB | c.*2755G>A (n.*2755G>A) c.410G>A (p.Arg137Lys) | |
| 5 | g.135446700T>A | CA361020584 | DCANP1,TIFAB | c.*2754A>T (n.*2754A>T) c.409A>T (p.Arg137Ter) | |
| 5 | g.135446700T>C | CA128012342 | DCANP1,TIFAB | c.*2754A>G (n.*2754A>G) c.409A>G (p.Arg137Gly) | dbSNP gnomAD v4 |
| 5 | g.135446700T>G | CA446784804 | DCANP1,TIFAB | c.*2754A>C (n.*2754A>C) c.409A>C (p.Arg137=) | |
| 5 | g.135446700T= | CA1584519434 | DCANP1,TIFAB | c.*2754A= (n.*2754A=) c.409A= (p.Arg137=) | |
| 5 | g.135446701G>A | CA446784805 | DCANP1,TIFAB | c.*2753C>T (n.*2753C>T) c.408C>T (p.Phe136=) | |
| 5 | g.135446701G>C | CA361020585 | DCANP1,TIFAB | c.*2753C>G (n.*2753C>G) c.408C>G (p.Phe136Leu) | |
| 5 | g.135446701G>T | CA361020586 | DCANP1,TIFAB | c.*2753C>A (n.*2753C>A) c.408C>A (p.Phe136Leu) | |
| 5 | g.135446701_135446702delinsGA | CA1584519435 | DCANP1,TIFAB | c.*2752_*2753delinsTC (n.*2752_*2753delinsTC) c.407_408delinsTC (p.Phe136=) | |
| 5 | g.135446702A>C | CA361020588 | DCANP1,TIFAB | c.*2752T>G (n.*2752T>G) c.407T>G (p.Phe136Cys) | |
| 5 | g.135446702A>G | CA361020589 | DCANP1,TIFAB | c.*2752T>C (n.*2752T>C) c.407T>C (p.Phe136Ser) | |
| 5 | g.135446702A>T | CA361020587 | DCANP1,TIFAB | c.*2752T>A (n.*2752T>A) c.407T>A (p.Phe136Tyr) | |
| 5 | g.135446704del | CA1584519436 | DCANP1,TIFAB | c.*2752del (n.*2752del) c.407del (p.Phe136SerfsTer?) | dbSNP |
| 5 | g.135446703A>C | CA361020590 | DCANP1,TIFAB | c.*2751T>G (n.*2751T>G) c.406T>G (p.Phe136Val) | |
| 5 | g.135446703A>G | CA361020591 | DCANP1,TIFAB | c.*2751T>C (n.*2751T>C) c.406T>C (p.Phe136Leu) | |
| 5 | g.135446703A>T | CA361020592 | DCANP1,TIFAB | c.*2751T>A (n.*2751T>A) c.406T>A (p.Phe136Ile) | |
| 5 | g.135446704A= | CA1584519437 | DCANP1,TIFAB | c.*2750T= (n.*2750T=) c.405T= (p.Ser135=) | |
| 5 | g.135446704A>C | CA361020593 | DCANP1,TIFAB | c.*2750T>G (n.*2750T>G) c.405T>G (p.Ser135Arg) | |
| 5 | g.135446704A>G | CA446784810 | DCANP1,TIFAB | c.*2750T>C (n.*2750T>C) c.405T>C (p.Ser135=) | |
| 5 | g.135446704A>T | CA3418244 | DCANP1,TIFAB | c.*2750T>A (n.*2750T>A) c.405T>A (p.Ser135Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446705C>A | CA361020596 | DCANP1,TIFAB | c.*2749G>T (n.*2749G>T) c.404G>T (p.Ser135Ile) | |
| 5 | g.135446705C= | CA1584519438 | DCANP1,TIFAB | c.*2749G= (n.*2749G=) c.404G= (p.Ser135=) | |
| 5 | g.135446705C>G | CA361020594 | DCANP1,TIFAB | c.*2749G>C (n.*2749G>C) c.404G>C (p.Ser135Thr) | |
| 5 | g.135446705C>T | CA361020595 | DCANP1,TIFAB | c.*2749G>A (n.*2749G>A) c.404G>A (p.Ser135Asn) | dbSNP gnomAD v4 |
| 5 | g.135446706T>A | CA3418245 | DCANP1,TIFAB | c.*2748A>T (n.*2748A>T) c.403A>T (p.Ser135Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446706T>C | CA361020597 | DCANP1,TIFAB | c.*2748A>G (n.*2748A>G) c.403A>G (p.Ser135Gly) | gnomAD v4 |
| 5 | g.135446706T>G | CA361020598 | DCANP1,TIFAB | c.*2748A>C (n.*2748A>C) c.403A>C (p.Ser135Arg) | |
| 5 | g.135446706T= | CA1584519439 | DCANP1,TIFAB | c.*2748A= (n.*2748A=) c.403A= (p.Ser135=) | |
| 5 | g.135446707A>C | CA361020599 | DCANP1,TIFAB | c.*2747T>G (n.*2747T>G) c.402T>G (p.Cys134Trp) | |
| 5 | g.135446707A>G | CA446784811 | DCANP1,TIFAB | c.*2747T>C (n.*2747T>C) c.402T>C (p.Cys134=) | gnomAD v4 |
| 5 | g.135446707A>T | CA361020600 | DCANP1,TIFAB | c.*2747T>A (n.*2747T>A) c.402T>A (p.Cys134Ter) | |
| 5 | g.135446708C>A | CA361020601 | DCANP1,TIFAB | c.*2746G>T (n.*2746G>T) c.401G>T (p.Cys134Phe) | |
| 5 | g.135446708C>G | CA361020603 | DCANP1,TIFAB | c.*2746G>C (n.*2746G>C) c.401G>C (p.Cys134Ser) | |
| 5 | g.135446708C>T | CA361020602 | DCANP1,TIFAB | c.*2746G>A (n.*2746G>A) c.401G>A (p.Cys134Tyr) | |
| 5 | g.135446709A>C | CA361020604 | DCANP1,TIFAB | c.*2745T>G (n.*2745T>G) c.400T>G (p.Cys134Gly) | |
| 5 | g.135446709A>G | CA361020605 | DCANP1,TIFAB | c.*2745T>C (n.*2745T>C) c.400T>C (p.Cys134Arg) | |
| 5 | g.135446709A>T | CA361020606 | DCANP1,TIFAB | c.*2745T>A (n.*2745T>A) c.400T>A (p.Cys134Ser) | |
| 5 | g.135446710A>C | CA446784812 | DCANP1,TIFAB | c.*2744T>G (n.*2744T>G) c.399T>G (p.Val133=) | |
| 5 | g.135446710A>G | CA446784813 | DCANP1,TIFAB | c.*2744T>C (n.*2744T>C) c.399T>C (p.Val133=) | |
| 5 | g.135446710A>T | CA446784814 | DCANP1,TIFAB | c.*2744T>A (n.*2744T>A) c.399T>A (p.Val133=) | |
| 5 | g.135446711A>C | CA361020607 | DCANP1,TIFAB | c.*2743T>G (n.*2743T>G) c.398T>G (p.Val133Gly) | gnomAD v4 |
| 5 | g.135446711A>G | CA361020608 | DCANP1,TIFAB | c.*2743T>C (n.*2743T>C) c.398T>C (p.Val133Ala) | |
| 5 | g.135446711A>T | CA361020609 | DCANP1,TIFAB | c.*2743T>A (n.*2743T>A) c.398T>A (p.Val133Asp) | |
| 5 | g.135446712C>A | CA361020610 | DCANP1,TIFAB | c.*2742G>T (n.*2742G>T) c.397G>T (p.Val133Phe) | dbSNP gnomAD v2 |
| 5 | g.135446712C= | CA1584519440 | DCANP1,TIFAB | c.*2742G= (n.*2742G=) c.397G= (p.Val133=) | |
| 5 | g.135446712C>G | CA361020611 | DCANP1,TIFAB | c.*2742G>C (n.*2742G>C) c.397G>C (p.Val133Leu) | |
| 5 | g.135446712C>T | CA361020612 | DCANP1,TIFAB | c.*2742G>A (n.*2742G>A) c.397G>A (p.Val133Ile) | |
| 5 | g.135446713C>A | CA446784815 | DCANP1,TIFAB | c.*2741G>T (n.*2741G>T) c.396G>T (p.Leu132=) | |
| 5 | g.135446713C>G | CA446784816 | DCANP1,TIFAB | c.*2741G>C (n.*2741G>C) c.396G>C (p.Leu132=) | |
| 5 | g.135446713C>T | CA446784817 | DCANP1,TIFAB | c.*2741G>A (n.*2741G>A) c.396G>A (p.Leu132=) | gnomAD v4 |
| 5 | g.135446713_135446715delinsCAG | CA1584519441 | DCANP1,TIFAB | c.*2739_*2741delinsCTG (n.*2739_*2741delinsCTG) c.394_396delinsCTG (p.Leu132=) | |
| 5 | g.135446714A>C | CA361020613 | DCANP1,TIFAB | c.*2740T>G (n.*2740T>G) c.395T>G (p.Leu132Arg) | |
| 5 | g.135446714A>G | CA361020614 | DCANP1,TIFAB | c.*2740T>C (n.*2740T>C) c.395T>C (p.Leu132Pro) | |
| 5 | g.135446714A>T | CA361020615 | DCANP1,TIFAB | c.*2740T>A (n.*2740T>A) c.395T>A (p.Leu132Gln) | |
| 5 | g.135446715_135446716del | CA1584519442 | DCANP1,TIFAB | c.*2739_*2740del (n.*2739_*2740del) c.394_395del (p.Leu132GlyfsTer3) | dbSNP |
| 5 | g.135446715G>A | CA446784818 | DCANP1,TIFAB | c.*2739C>T (n.*2739C>T) c.394C>T (p.Leu132=) | |
| 5 | g.135446715G>C | CA128012348 | DCANP1,TIFAB | c.*2739C>G (n.*2739C>G) c.394C>G (p.Leu132Val) | dbSNP gnomAD v4 |
| 5 | g.135446715G= | CA1584519443 | DCANP1,TIFAB | c.*2739C= (n.*2739C=) c.394C= (p.Leu132=) | |
| 5 | g.135446715G>T | CA361020616 | DCANP1,TIFAB | c.*2739C>A (n.*2739C>A) c.394C>A (p.Leu132Met) | |
| 5 | g.135446716A>C | CA361020617 | DCANP1,TIFAB | c.*2738T>G (n.*2738T>G) c.393T>G (p.His131Gln) | |
| 5 | g.135446716A>G | CA446784819 | DCANP1,TIFAB | c.*2738T>C (n.*2738T>C) c.393T>C (p.His131=) | |
| 5 | g.135446716A>T | CA361020618 | DCANP1,TIFAB | c.*2738T>A (n.*2738T>A) c.393T>A (p.His131Gln) | gnomAD v4 |
| 5 | g.135446717T>A | CA361020619 | DCANP1,TIFAB | c.*2737A>T (n.*2737A>T) c.392A>T (p.His131Leu) | gnomAD v4 |
| 5 | g.135446717T>C | CA361020620 | DCANP1,TIFAB | c.*2737A>G (n.*2737A>G) c.392A>G (p.His131Arg) | |
| 5 | g.135446717T>G | CA361020621 | DCANP1,TIFAB | c.*2737A>C (n.*2737A>C) c.392A>C (p.His131Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446717T= | CA1584519444 | DCANP1,TIFAB | c.*2737A= (n.*2737A=) c.392A= (p.His131=) | |
| 5 | g.135446718G>A | CA361020622 | DCANP1,TIFAB | c.*2736C>T (n.*2736C>T) c.391C>T (p.His131Tyr) | |
| 5 | g.135446718G>C | CA361020623 | DCANP1,TIFAB | c.*2736C>G (n.*2736C>G) c.391C>G (p.His131Asp) | |
| 5 | g.135446718G>T | CA361020624 | DCANP1,TIFAB | c.*2736C>A (n.*2736C>A) c.391C>A (p.His131Asn) | |
| 5 | g.135446719T>A | CA361020625 | DCANP1,TIFAB | c.*2735A>T (n.*2735A>T) c.390A>T (p.Lys130Asn) | |
| 5 | g.135446719T>C | CA446784820 | DCANP1,TIFAB | c.*2735A>G (n.*2735A>G) c.390A>G (p.Lys130=) | |
| 5 | g.135446719T>G | CA361020626 | DCANP1,TIFAB | c.*2735A>C (n.*2735A>C) c.390A>C (p.Lys130Asn) | |
| 5 | g.135446720T>A | CA361020627 | DCANP1,TIFAB | c.*2734A>T (n.*2734A>T) c.389A>T (p.Lys130Ile) | |
| 5 | g.135446720T>C | CA128012352 | DCANP1,TIFAB | c.*2734A>G (n.*2734A>G) c.389A>G (p.Lys130Arg) | dbSNP gnomAD v4 |
| 5 | g.135446720T>G | CA361020628 | DCANP1,TIFAB | c.*2734A>C (n.*2734A>C) c.389A>C (p.Lys130Thr) | |
| 5 | g.135446720T= | CA1584519445 | DCANP1,TIFAB | c.*2734A= (n.*2734A=) c.389A= (p.Lys130=) | |
| 5 | g.135446721T>A | CA361020629 | DCANP1,TIFAB | c.*2733A>T (n.*2733A>T) c.388A>T (p.Lys130Ter) | |
| 5 | g.135446721T>C | CA361020630 | DCANP1,TIFAB | c.*2733A>G (n.*2733A>G) c.388A>G (p.Lys130Glu) | |
| 5 | g.135446721T>G | CA361020631 | DCANP1,TIFAB | c.*2733A>C (n.*2733A>C) c.388A>C (p.Lys130Gln) | |
| 5 | g.135446722C>A | CA446784821 | DCANP1,TIFAB | c.*2732G>T (n.*2732G>T) c.387G>T (p.Arg129=) | |
| 5 | g.135446722C= | CA1584519446 | DCANP1,TIFAB | c.*2732G= (n.*2732G=) c.387G= (p.Arg129=) | |
| 5 | g.135446722C>G | CA446784822 | DCANP1,TIFAB | c.*2732G>C (n.*2732G>C) c.387G>C (p.Arg129=) | |
| 5 | g.135446722C>T | CA3418246 | DCANP1,TIFAB | c.*2732G>A (n.*2732G>A) c.387G>A (p.Arg129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446723C>A | CA361020632 | DCANP1,TIFAB | c.*2731G>T (n.*2731G>T) c.386G>T (p.Arg129Leu) | |
| 5 | g.135446723C= | CA1584519447 | DCANP1,TIFAB | c.*2731G= (n.*2731G=) c.386G= (p.Arg129=) | |
| 5 | g.135446723C>G | CA361020633 | DCANP1,TIFAB | c.*2731G>C (n.*2731G>C) c.386G>C (p.Arg129Pro) | |
| 5 | g.135446723C>T | CA3418247 | DCANP1,TIFAB | c.*2731G>A (n.*2731G>A) c.386G>A (p.Arg129Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446724G>A | CA3418249 | DCANP1,TIFAB | c.*2730C>T (n.*2730C>T) c.385C>T (p.Arg129Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446724G>C | CA3418250 | DCANP1,TIFAB | c.*2730C>G (n.*2730C>G) c.385C>G (p.Arg129Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446724G= | CA1584519448 | DCANP1,TIFAB | c.*2730C= (n.*2730C=) c.385C= (p.Arg129=) | |
| 5 | g.135446724G>T | CA3418248 | DCANP1,TIFAB | c.*2730C>A (n.*2730C>A) c.385C>A (p.Arg129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446725G>A | CA446784823 | DCANP1,TIFAB | c.*2729C>T (n.*2729C>T) c.384C>T (p.Ala128=) | |
| 5 | g.135446725G>C | CA446784824 | DCANP1,TIFAB | c.*2729C>G (n.*2729C>G) c.384C>G (p.Ala128=) | |
| 5 | g.135446725G>T | CA446784825 | DCANP1,TIFAB | c.*2729C>A (n.*2729C>A) c.384C>A (p.Ala128=) | |
| 5 | g.135446726G>A | CA361020634 | DCANP1,TIFAB | c.*2728C>T (n.*2728C>T) c.383C>T (p.Ala128Val) | |
| 5 | g.135446726G>C | CA361020635 | DCANP1,TIFAB | c.*2728C>G (n.*2728C>G) c.383C>G (p.Ala128Gly) | |
| 5 | g.135446726G>T | CA361020636 | DCANP1,TIFAB | c.*2728C>A (n.*2728C>A) c.383C>A (p.Ala128Asp) | |
| 5 | g.135446727C>A | CA361020637 | DCANP1,TIFAB | c.*2727G>T (n.*2727G>T) c.382G>T (p.Ala128Ser) | |
| 5 | g.135446727C>G | CA361020638 | DCANP1,TIFAB | c.*2727G>C (n.*2727G>C) c.382G>C (p.Ala128Pro) | |
| 5 | g.135446727C>T | CA361020639 | DCANP1,TIFAB | c.*2727G>A (n.*2727G>A) c.382G>A (p.Ala128Thr) | gnomAD v4 |
| 5 | g.135446728T>A | CA446784826 | DCANP1,TIFAB | c.*2726A>T (n.*2726A>T) c.381A>T (p.Gly127=) | |
| 5 | g.135446728T>C | CA446784827 | DCANP1,TIFAB | c.*2726A>G (n.*2726A>G) c.381A>G (p.Gly127=) | gnomAD v4 |
| 5 | g.135446728T>G | CA446784828 | DCANP1,TIFAB | c.*2726A>C (n.*2726A>C) c.381A>C (p.Gly127=) | |
| 5 | g.135446729C>A | CA361020642 | DCANP1,TIFAB | c.*2725G>T (n.*2725G>T) c.380G>T (p.Gly127Val) | |
| 5 | g.135446729C>G | CA361020641 | DCANP1,TIFAB | c.*2725G>C (n.*2725G>C) c.380G>C (p.Gly127Ala) | gnomAD v4 |
| 5 | g.135446729C>T | CA361020640 | DCANP1,TIFAB | c.*2725G>A (n.*2725G>A) c.380G>A (p.Gly127Glu) | gnomAD v4 |
| 5 | g.135446730C>A | CA361020643 | DCANP1,TIFAB | c.*2724G>T (n.*2724G>T) c.379G>T (p.Gly127Ter) | |
| 5 | g.135446730C>G | CA361020644 | DCANP1,TIFAB | c.*2724G>C (n.*2724G>C) c.379G>C (p.Gly127Arg) | |
| 5 | g.135446730C>T | CA361020645 | DCANP1,TIFAB | c.*2724G>A (n.*2724G>A) c.379G>A (p.Gly127Arg) | |
| 5 | g.135446731C>A | CA361020646 | DCANP1,TIFAB | c.*2723G>T (n.*2723G>T) c.378G>T (p.Glu126Asp) | |
| 5 | g.135446731C>G | CA361020647 | DCANP1,TIFAB | c.*2723G>C (n.*2723G>C) c.378G>C (p.Glu126Asp) | |
| 5 | g.135446731C>T | CA446784829 | DCANP1,TIFAB | c.*2723G>A (n.*2723G>A) c.378G>A (p.Glu126=) | |
| 5 | g.135446732T>A | CA361020648 | DCANP1,TIFAB | c.*2722A>T (n.*2722A>T) c.377A>T (p.Glu126Val) | |
| 5 | g.135446732T>C | CA361020649 | DCANP1,TIFAB | c.*2722A>G (n.*2722A>G) c.377A>G (p.Glu126Gly) | |
| 5 | g.135446732T>G | CA361020650 | DCANP1,TIFAB | c.*2722A>C (n.*2722A>C) c.377A>C (p.Glu126Ala) | |
| 5 | g.135446733C>A | CA361020651 | DCANP1,TIFAB | c.*2721G>T (n.*2721G>T) c.376G>T (p.Glu126Ter) | |
| 5 | g.135446733C>G | CA361020652 | DCANP1,TIFAB | c.*2721G>C (n.*2721G>C) c.376G>C (p.Glu126Gln) | |
| 5 | g.135446733C>T | CA361020653 | DCANP1,TIFAB | c.*2721G>A (n.*2721G>A) c.376G>A (p.Glu126Lys) | |
| 5 | g.135446734C>A | CA3418251 | DCANP1,TIFAB | c.*2720G>T (n.*2720G>T) c.375G>T (p.Arg125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446734C= | CA1584519449 | DCANP1,TIFAB | c.*2720G= (n.*2720G=) c.375G= (p.Arg125=) | |
| 5 | g.135446734C>G | CA446784830 | DCANP1,TIFAB | c.*2720G>C (n.*2720G>C) c.375G>C (p.Arg125=) | |
| 5 | g.135446734C>T | CA446784831 | DCANP1,TIFAB | c.*2720G>A (n.*2720G>A) c.375G>A (p.Arg125=) | |
| 5 | g.135446735C>A | CA361020655 | DCANP1,TIFAB | c.*2719G>T (n.*2719G>T) c.374G>T (p.Arg125Leu) | |
| 5 | g.135446735C= | CA1584519450 | DCANP1,TIFAB | c.*2719G= (n.*2719G=) c.374G= (p.Arg125=) | |
| 5 | g.135446735C>G | CA361020654 | DCANP1,TIFAB | c.*2719G>C (n.*2719G>C) c.374G>C (p.Arg125Pro) | |
| 5 | g.135446735C>T | CA3418252 | DCANP1,TIFAB | c.*2719G>A (n.*2719G>A) c.374G>A (p.Arg125Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446736G>A | CA3418253 | DCANP1,TIFAB | c.*2718C>T (n.*2718C>T) c.373C>T (p.Arg125Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446736G>C | CA3418254 | DCANP1,TIFAB | c.*2718C>G (n.*2718C>G) c.373C>G (p.Arg125Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446736G= | CA1584519451 | DCANP1,TIFAB | c.*2718C= (n.*2718C=) c.373C= (p.Arg125=) | |
| 5 | g.135446736G>T | CA446784832 | DCANP1,TIFAB | c.*2718C>A (n.*2718C>A) c.373C>A (p.Arg125=) | |
| 5 | g.135446737C>A | CA361020656 | DCANP1,TIFAB | c.*2717G>T (n.*2717G>T) c.372G>T (p.Arg124Ser) | |
| 5 | g.135446737C= | CA1584519452 | DCANP1,TIFAB | c.*2717G= (n.*2717G=) c.372G= (p.Arg124=) | |
| 5 | g.135446737C>G | CA361020657 | DCANP1,TIFAB | c.*2717G>C (n.*2717G>C) c.372G>C (p.Arg124Ser) | |
| 5 | g.135446737C>T | CA3418255 | DCANP1,TIFAB | c.*2717G>A (n.*2717G>A) c.372G>A (p.Arg124=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446738C>A | CA361020658 | DCANP1,TIFAB | c.*2716G>T (n.*2716G>T) c.371G>T (p.Arg124Met) | |
| 5 | g.135446738C>G | CA361020659 | DCANP1,TIFAB | c.*2716G>C (n.*2716G>C) c.371G>C (p.Arg124Thr) | |
| 5 | g.135446738C>T | CA361020660 | DCANP1,TIFAB | c.*2716G>A (n.*2716G>A) c.371G>A (p.Arg124Lys) | gnomAD v4 |
| 5 | g.135446739T>A | CA361020661 | DCANP1,TIFAB | c.*2715A>T (n.*2715A>T) c.370A>T (p.Arg124Trp) | |
| 5 | g.135446739T>C | CA361020662 | DCANP1,TIFAB | c.*2715A>G (n.*2715A>G) c.370A>G (p.Arg124Gly) | |
| 5 | g.135446739T>G | CA446784833 | DCANP1,TIFAB | c.*2715A>C (n.*2715A>C) c.370A>C (p.Arg124=) | |
| 5 | g.135446740G>A | CA446784834 | DCANP1,TIFAB | c.*2714C>T (n.*2714C>T) c.369C>T (p.Thr123=) | gnomAD v4 |
| 5 | g.135446740G>C | CA446784835 | DCANP1,TIFAB | c.*2714C>G (n.*2714C>G) c.369C>G (p.Thr123=) | |
| 5 | g.135446740G>T | CA446784836 | DCANP1,TIFAB | c.*2714C>A (n.*2714C>A) c.369C>A (p.Thr123=) | |
| 5 | g.135446741G>A | CA361020663 | DCANP1,TIFAB | c.*2713C>T (n.*2713C>T) c.368C>T (p.Thr123Ile) | |
| 5 | g.135446741G>C | CA361020664 | DCANP1,TIFAB | c.*2713C>G (n.*2713C>G) c.368C>G (p.Thr123Ser) | |
| 5 | g.135446741G>T | CA361020665 | DCANP1,TIFAB | c.*2713C>A (n.*2713C>A) c.368C>A (p.Thr123Asn) | |
| 5 | g.135446742T>A | CA361020667 | DCANP1,TIFAB | c.*2712A>T (n.*2712A>T) c.367A>T (p.Thr123Ser) | |
| 5 | g.135446742T>C | CA361020668 | DCANP1,TIFAB | c.*2712A>G (n.*2712A>G) c.367A>G (p.Thr123Ala) | |
| 5 | g.135446742T>G | CA361020666 | DCANP1,TIFAB | c.*2712A>C (n.*2712A>C) c.367A>C (p.Thr123Pro) | |
| 5 | g.135446743C>A | CA361020669 | DCANP1,TIFAB | c.*2711G>T (n.*2711G>T) c.366G>T (p.Gln122His) | |
| 5 | g.135446743C>G | CA361020670 | DCANP1,TIFAB | c.*2711G>C (n.*2711G>C) c.366G>C (p.Gln122His) | |
| 5 | g.135446743C>T | CA446784837 | DCANP1,TIFAB | c.*2711G>A (n.*2711G>A) c.366G>A (p.Gln122=) | gnomAD v4 |
| 5 | g.135446744T>A | CA361020671 | DCANP1,TIFAB | c.*2710A>T (n.*2710A>T) c.365A>T (p.Gln122Leu) | dbSNP |
| 5 | g.135446744T>C | CA361020672 | DCANP1,TIFAB | c.*2710A>G (n.*2710A>G) c.365A>G (p.Gln122Arg) | |
| 5 | g.135446744T>G | CA361020673 | DCANP1,TIFAB | c.*2710A>C (n.*2710A>C) c.365A>C (p.Gln122Pro) | |
| 5 | g.135446745G>A | CA361020674 | DCANP1,TIFAB | c.*2709C>T (n.*2709C>T) c.364C>T (p.Gln122Ter) | dbSNP gnomAD v4 COSMIC |
| 5 | g.135446745G>C | CA3418257 | DCANP1,TIFAB | c.*2709C>G (n.*2709C>G) c.364C>G (p.Gln122Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446745G= | CA1584519453 | DCANP1,TIFAB | c.*2709C= (n.*2709C=) c.364C= (p.Gln122=) | |
| 5 | g.135446745G>T | CA3418256 | DCANP1,TIFAB | c.*2709C>A (n.*2709C>A) c.364C>A (p.Gln122Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446746G>A | CA446784839 | DCANP1,TIFAB | c.*2708C>T (n.*2708C>T) c.363C>T (p.Gly121=) | gnomAD v4 |
| 5 | g.135446746G>C | CA128012408 | DCANP1,TIFAB | c.*2708C>G (n.*2708C>G) c.363C>G (p.Gly121=) | dbSNP |
| 5 | g.135446746G= | CA1584519454 | DCANP1,TIFAB | c.*2708C= (n.*2708C=) c.363C= (p.Gly121=) | |
| 5 | g.135446746G>T | CA446784838 | DCANP1,TIFAB | c.*2708C>A (n.*2708C>A) c.363C>A (p.Gly121=) | |
| 5 | g.135446747C>A | CA361020675 | DCANP1,TIFAB | c.*2707G>T (n.*2707G>T) c.362G>T (p.Gly121Val) | |
| 5 | g.135446747C>G | CA361020676 | DCANP1,TIFAB | c.*2707G>C (n.*2707G>C) c.362G>C (p.Gly121Ala) | gnomAD v4 |
| 5 | g.135446747C>T | CA361020677 | DCANP1,TIFAB | c.*2707G>A (n.*2707G>A) c.362G>A (p.Gly121Asp) | gnomAD v4 |
| 5 | g.135446748C>A | CA361020678 | DCANP1,TIFAB | c.*2706G>T (n.*2706G>T) c.361G>T (p.Gly121Cys) | |
| 5 | g.135446748C>G | CA361020679 | DCANP1,TIFAB | c.*2706G>C (n.*2706G>C) c.361G>C (p.Gly121Arg) | |
| 5 | g.135446748C>T | CA361020680 | DCANP1,TIFAB | c.*2706G>A (n.*2706G>A) c.361G>A (p.Gly121Ser) | gnomAD v4 |
| 5 | g.135446749T>A | CA446784840 | DCANP1,TIFAB | c.*2705A>T (n.*2705A>T) c.360A>T (p.Thr120=) | |
| 5 | g.135446749T>C | CA446784842 | DCANP1,TIFAB | c.*2705A>G (n.*2705A>G) c.360A>G (p.Thr120=) | gnomAD v4 |
| 5 | g.135446749T>G | CA446784841 | DCANP1,TIFAB | c.*2705A>C (n.*2705A>C) c.360A>C (p.Thr120=) | |
| 5 | g.135446750G>A | CA361020683 | DCANP1,TIFAB | c.*2704C>T (n.*2704C>T) c.359C>T (p.Thr120Ile) | gnomAD v4 |
| 5 | g.135446750G>C | CA361020681 | DCANP1,TIFAB | c.*2704C>G (n.*2704C>G) c.359C>G (p.Thr120Arg) | |
| 5 | g.135446750G>T | CA361020682 | DCANP1,TIFAB | c.*2704C>A (n.*2704C>A) c.359C>A (p.Thr120Lys) | |
| 5 | g.135446751T>A | CA361020684 | DCANP1,TIFAB | c.*2703A>T (n.*2703A>T) c.358A>T (p.Thr120Ser) | |
| 5 | g.135446751T>C | CA361020685 | DCANP1,TIFAB | c.*2703A>G (n.*2703A>G) c.358A>G (p.Thr120Ala) | gnomAD v4 |
| 5 | g.135446751T>G | CA361020686 | DCANP1,TIFAB | c.*2703A>C (n.*2703A>C) c.358A>C (p.Thr120Pro) | |
| 5 | g.135446752C>A | CA361020687 | DCANP1,TIFAB | c.*2702G>T (n.*2702G>T) c.357G>T (p.Lys119Asn) | |
| 5 | g.135446752C>G | CA361020688 | DCANP1,TIFAB | c.*2702G>C (n.*2702G>C) c.357G>C (p.Lys119Asn) | |
| 5 | g.135446752C>T | CA446784843 | DCANP1,TIFAB | c.*2702G>A (n.*2702G>A) c.357G>A (p.Lys119=) | gnomAD v4 |
| 5 | g.135446753T>A | CA361020689 | DCANP1,TIFAB | c.*2701A>T (n.*2701A>T) c.356A>T (p.Lys119Met) | |
| 5 | g.135446753T>C | CA3418258 | DCANP1,TIFAB | c.*2701A>G (n.*2701A>G) c.356A>G (p.Lys119Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446753T>G | CA361020690 | DCANP1,TIFAB | c.*2701A>C (n.*2701A>C) c.356A>C (p.Lys119Thr) | |
| 5 | g.135446753T= | CA1584519455 | DCANP1,TIFAB | c.*2701A= (n.*2701A=) c.356A= (p.Lys119=) | |
| 5 | g.135446754T>A | CA361020691 | DCANP1,TIFAB | c.*2700A>T (n.*2700A>T) c.355A>T (p.Lys119Ter) | |
| 5 | g.135446754T>C | CA361020692 | DCANP1,TIFAB | c.*2700A>G (n.*2700A>G) c.355A>G (p.Lys119Glu) | |
| 5 | g.135446754T>G | CA361020693 | DCANP1,TIFAB | c.*2700A>C (n.*2700A>C) c.355A>C (p.Lys119Gln) | |
| 5 | g.135446755C>A | CA361020694 | DCANP1,TIFAB | c.*2699G>T (n.*2699G>T) c.354G>T (p.Arg118Ser) | |
| 5 | g.135446755C>G | CA361020695 | DCANP1,TIFAB | c.*2699G>C (n.*2699G>C) c.354G>C (p.Arg118Ser) | |
| 5 | g.135446755C>T | CA446784844 | DCANP1,TIFAB | c.*2699G>A (n.*2699G>A) c.354G>A (p.Arg118=) | COSMIC |
| 5 | g.135446756C>A | CA361020697 | DCANP1,TIFAB | c.*2698G>T (n.*2698G>T) c.353G>T (p.Arg118Met) | dbSNP |
| 5 | g.135446756C= | CA1584519456 | DCANP1,TIFAB | c.*2698G= (n.*2698G=) c.353G= (p.Arg118=) | |
| 5 | g.135446756C>G | CA361020696 | DCANP1,TIFAB | c.*2698G>C (n.*2698G>C) c.353G>C (p.Arg118Thr) | |
| 5 | g.135446756C>T | CA3418259 | DCANP1,TIFAB | c.*2698G>A (n.*2698G>A) c.353G>A (p.Arg118Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135446757T>A | CA361020698 | DCANP1,TIFAB | c.*2697A>T (n.*2697A>T) c.352A>T (p.Arg118Trp) | |
| 5 | g.135446757T>C | CA361020699 | DCANP1,TIFAB | c.*2697A>G (n.*2697A>G) c.352A>G (p.Arg118Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135446757T>G | CA446784845 | DCANP1,TIFAB | c.*2697A>C (n.*2697A>C) c.352A>C (p.Arg118=) | |
| 5 | g.135446757T= | CA1584519457 | DCANP1,TIFAB | c.*2697A= (n.*2697A=) c.352A= (p.Arg118=) | |
| 5 | g.135446758T>A | CA361020700 | DCANP1,TIFAB | c.*2696A>T (n.*2696A>T) c.351A>T (p.Arg117Ser) | |
| 5 | g.135446758T>C | CA446784846 | DCANP1,TIFAB | c.*2696A>G (n.*2696A>G) c.351A>G (p.Arg117=) | gnomAD v4 |
| 5 | g.135446758T>G | CA3418260 | DCANP1,TIFAB | c.*2696A>C (n.*2696A>C) c.351A>C (p.Arg117Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446758T= | CA1584519458 | DCANP1,TIFAB | c.*2696A= (n.*2696A=) c.351A= (p.Arg117=) | |
| 5 | g.135446758_135446761delinsTCTG | CA1584519459 | DCANP1,TIFAB | c.*2693_*2696delinsCAGA (n.*2693_*2696delinsCAGA) c.348_351delinsCAGA (p.Ser116=) | |
| 5 | g.135446759C>A | CA361020701 | DCANP1,TIFAB | c.*2695G>T (n.*2695G>T) c.350G>T (p.Arg117Ile) | |
| 5 | g.135446759C= | CA1584519460 | DCANP1,TIFAB | c.*2695G= (n.*2695G=) c.350G= (p.Arg117=) | |
| 5 | g.135446759C>G | CA361020702 | DCANP1,TIFAB | c.*2695G>C (n.*2695G>C) c.350G>C (p.Arg117Thr) | |
| 5 | g.135446759C>T | CA3418262 | DCANP1,TIFAB | c.*2695G>A (n.*2695G>A) c.350G>A (p.Arg117Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446764_135446766del | CA3418261 | DCANP1,TIFAB | c.*2693_*2695del (n.*2693_*2695del) c.348_350del (p.Ser116del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135446760T>A | CA3418263 | DCANP1,TIFAB | c.*2694A>T (n.*2694A>T) c.349A>T (p.Arg117Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446760T>C | CA361020703 | DCANP1,TIFAB | c.*2694A>G (n.*2694A>G) c.349A>G (p.Arg117Gly) | dbSNP |
| 5 | g.135446760T>G | CA446784847 | DCANP1,TIFAB | c.*2694A>C (n.*2694A>C) c.349A>C (p.Arg117=) | dbSNP |
| 5 | g.135446760T= | CA1584519461 | DCANP1,TIFAB | c.*2694A= (n.*2694A=) c.349A= (p.Arg117=) | |
| 5 | g.135446761G>A | CA446784848 | DCANP1,TIFAB | c.*2693C>T (n.*2693C>T) c.348C>T (p.Ser116=) | |
| 5 | g.135446761G>C | CA361020704 | DCANP1,TIFAB | c.*2693C>G (n.*2693C>G) c.348C>G (p.Ser116Arg) | |
| 5 | g.135446761G>T | CA361020705 | DCANP1,TIFAB | c.*2693C>A (n.*2693C>A) c.348C>A (p.Ser116Arg) | |
| 5 | g.135446762C>A | CA361020706 | DCANP1,TIFAB | c.*2692G>T (n.*2692G>T) c.347G>T (p.Ser116Ile) | |
| 5 | g.135446762C>G | CA361020707 | DCANP1,TIFAB | c.*2692G>C (n.*2692G>C) c.347G>C (p.Ser116Thr) | gnomAD v4 |
| 5 | g.135446762C>T | CA361020708 | DCANP1,TIFAB | c.*2692G>A (n.*2692G>A) c.347G>A (p.Ser116Asn) | |
| 5 | g.135446763T>A | CA361020709 | DCANP1,TIFAB | c.*2691A>T (n.*2691A>T) c.346A>T (p.Ser116Cys) | |
| 5 | g.135446763T>C | CA361020711 | DCANP1,TIFAB | c.*2691A>G (n.*2691A>G) c.346A>G (p.Ser116Gly) | |
| 5 | g.135446763T>G | CA361020710 | DCANP1,TIFAB | c.*2691A>C (n.*2691A>C) c.346A>C (p.Ser116Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135446763T= | CA1584519462 | DCANP1,TIFAB | c.*2691A= (n.*2691A=) c.346A= (p.Ser116=) |