UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10641221_10641453del | CA2815261287 | JAG1 | c.2916+8_2941del n.2782+8_2807del | |
| 20 | g.10641278_10641454del | CA2815261367 | JAG1 | c.2916+8_2917-32del (n.2916+8_2917-32del) n.2782+8_2783-32del | |
| 20 | g.10641442_10641443insAAAAACAAAAAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA920164472 | JAG1 | c.2916+27_2916+28insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGTTTTTTTTTTTTTTT (n.2916+27_2916+28insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGTTTTTTTTTTTTTTT) n.2782+27_2782+28insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGTTTTTTTTTTTTTTT | dbSNP |
| 20 | g.10641442dup | CA9764363 | JAG1 | c.2916+27dup (n.2916+27dup) n.2782+27dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641441_10641442dup | CA9764364 | JAG1 | c.2916+26_2916+27dup (n.2916+26_2916+27dup) n.2782+26_2782+27dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641440_10641442dup | CA2651913602 | JAG1 | c.2916+25_2916+27dup (n.2916+25_2916+27dup) n.2782+25_2782+27dup | gnomAD v4 |
| 20 | g.10641439_10641442dup | CA2651913603 | JAG1 | c.2916+24_2916+27dup (n.2916+24_2916+27dup) n.2782+24_2782+27dup | gnomAD v4 |
| 20 | g.10641437_10641442dup | CA1015373893 | JAG1 | c.2916+22_2916+27dup (n.2916+22_2916+27dup) n.2782+22_2782+27dup | gnomAD v3 gnomAD v4 |
| 20 | g.10641435_10641442dup | CA2651913604 | JAG1 | c.2916+20_2916+27dup (n.2916+20_2916+27dup) n.2782+20_2782+27dup | gnomAD v4 |
| 20 | g.10641434_10641442dup | CA2651913605 | JAG1 | c.2916+19_2916+27dup (n.2916+19_2916+27dup) n.2782+19_2782+27dup | gnomAD v4 |
| 20 | g.10641442del | CA9764362 | JAG1 | c.2916+27del (n.2916+27del) n.2782+27del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641441_10641442del | CA9764365 | JAG1 | c.2916+26_2916+27del (n.2916+26_2916+27del) n.2782+26_2782+27del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.10641440_10641442del | CA2651913607 | JAG1 | c.2916+25_2916+27del (n.2916+25_2916+27del) n.2782+25_2782+27del | gnomAD v4 |
| 20 | g.10641443_10641446del | CA2580097904 | JAG1 | c.2916+17_2916+20del (n.2916+17_2916+20del) n.2782+17_2782+20del | ClinVar |
| 20 | g.10641441A= | CA2349880839 | JAG1 | c.2916+19T= (n.2916+19T=) n.2782+19T= | |
| 20 | g.10641441A>G | CA311368640 | JAG1 | c.2916+19T>C (n.2916+19T>C) n.2782+19T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641441_10641442insC | CA2651913611 | JAG1 | c.2916+18_2916+19insG (n.2916+18_2916+19insG) n.2782+18_2782+19insG | gnomAD v4 |
| 20 | g.10641442A>G | CA2577337961 | JAG1 | c.2916+18T>C (n.2916+18T>C) n.2782+18T>C | ClinVar |
| 20 | g.10641443C>A | CA9764367 | JAG1 | c.2916+17G>T (n.2916+17G>T) n.2782+17G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641443C= | CA2349880840 | JAG1 | c.2916+17G= (n.2916+17G=) n.2782+17G= | |
| 20 | g.10641443C>T | CA311368649 | JAG1 | c.2916+17G>A (n.2916+17G>A) n.2782+17G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10641444A>C | CA2580097906 | JAG1 | c.2916+16T>G (n.2916+16T>G) n.2782+16T>G | ClinVar |
| 20 | g.10641444A>G | CA2651913618 | JAG1 | c.2916+16T>C (n.2916+16T>C) n.2782+16T>C | gnomAD v4 |
| 20 | g.10641445_10641446del | CA2651913616 | JAG1 | c.2916+15_2916+16del (n.2916+15_2916+16del) n.2782+15_2782+16del | gnomAD v4 |
| 20 | g.10641446_10641447delinsAG | CA2349880841 | JAG1 | c.2916+13_2916+14delinsCT (n.2916+13_2916+14delinsCT) n.2782+13_2782+14delinsCT | |
| 20 | g.10641447G>A | CA634801859 | JAG1 | c.2916+13C>T (n.2916+13C>T) n.2782+13C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641447G= | CA2349880842 | JAG1 | c.2916+13C= (n.2916+13C=) n.2782+13C= | |
| 20 | g.10641447G>T | CA2651913626 | JAG1 | c.2916+13C>A (n.2916+13C>A) n.2782+13C>A | gnomAD v4 |
| 20 | g.10641448del | CA9764368 | JAG1 | c.2916+13del (n.2916+13del) n.2782+13del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641447_10641449del | CA2815261574 | JAG1 | c.2916+11_2916+13del (n.2916+11_2916+13del) n.2782+11_2782+13del | |
| 20 | g.10641448G>A | CA634801860 | JAG1 | c.2916+12C>T (n.2916+12C>T) n.2782+12C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641448G>C | CA2651913629 | JAG1 | c.2916+12C>G (n.2916+12C>G) n.2782+12C>G | gnomAD v4 |
| 20 | g.10641448G= | CA2349880843 | JAG1 | c.2916+12C= (n.2916+12C=) n.2782+12C= | |
| 20 | g.10641448G>T | CA2651913630 | JAG1 | c.2916+12C>A (n.2916+12C>A) n.2782+12C>A | gnomAD v4 |
| 20 | g.10641451_10641453del | CA2651913628 | JAG1 | c.2916+10_2916+12del (n.2916+10_2916+12del) n.2782+10_2782+12del | gnomAD v4 |
| 20 | g.10641449T>A | CA2651913632 | JAG1 | c.2916+11A>T (n.2916+11A>T) n.2782+11A>T | gnomAD v4 |
| 20 | g.10641449T>C | CA634801861 | JAG1 | c.2916+11A>G (n.2916+11A>G) n.2782+11A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641449T>G | CA634801862 | JAG1 | c.2916+11A>C (n.2916+11A>C) n.2782+11A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641449T= | CA2349880844 | JAG1 | c.2916+11A= (n.2916+11A=) n.2782+11A= | |
| 20 | g.10641450T>A | CA2651913633 | JAG1 | c.2916+10A>T (n.2916+10A>T) n.2782+10A>T | gnomAD v4 |
| 20 | g.10641450T>G | CA634801863 | JAG1 | c.2916+10A>C (n.2916+10A>C) n.2782+10A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641450T= | CA2349880845 | JAG1 | c.2916+10A= (n.2916+10A=) n.2782+10A= | |
| 20 | g.10641451G>A | CA2577337962 | JAG1 | c.2916+9C>T (n.2916+9C>T) n.2782+9C>T | gnomAD v4 |
| 20 | g.10641451G>T | CA2651913635 | JAG1 | c.2916+9C>A (n.2916+9C>A) n.2782+9C>A | gnomAD v4 |
| 20 | g.10641452T>C | CA2349880847 | JAG1 | c.2916+8A>G (n.2916+8A>G) n.2782+8A>G | dbSNP gnomAD v4 |
| 20 | g.10641452T= | CA2349880846 | JAG1 | c.2916+8A= (n.2916+8A=) n.2782+8A= | |
| 20 | g.10641456A>G | CA2651913636 | JAG1 | c.2916+4T>C (n.2916+4T>C) n.2782+4T>C | gnomAD v4 |
| 20 | g.10641457T>C | CA2651913637 | JAG1 | c.2916+3A>G (n.2916+3A>G) n.2782+3A>G | gnomAD v4 |
| 20 | g.10641458A>C | CA408244685 | JAG1 | c.2916+2T>G (n.2916+2T>G) n.2782+2T>G | |
| 20 | g.10641458A>G | CA408244684 | JAG1 | c.2916+2T>C (n.2916+2T>C) n.2782+2T>C | |
| 20 | g.10641458A>T | CA408244683 | JAG1 | c.2916+2T>A (n.2916+2T>A) n.2782+2T>A | |
| 20 | g.10641459C>A | CA408244687 | JAG1 | c.2916+1G>T (n.2916+1G>T) n.2782+1G>T | |
| 20 | g.10641459C= | CA2349880848 | JAG1 | c.2916+1G= (n.2916+1G=) n.2782+1G= | |
| 20 | g.10641459C>G | CA408244686 | JAG1 | c.2916+1G>C (n.2916+1G>C) n.2782+1G>C | ClinVar dbSNP |
| 20 | g.10641459C>T | CA408244688 | JAG1 | c.2916+1G>A (n.2916+1G>A) n.2782+1G>A | |
| 20 | g.10641460T>A | CA509815978 | JAG1 | c.2916A>T (p.Pro972=) n.2782A>T | |
| 20 | g.10641460T>C | CA509815979 | JAG1 | c.2916A>G (p.Pro972=) n.2782A>G | |
| 20 | g.10641460T>G | CA509815980 | JAG1 | c.2916A>C (p.Pro972=) n.2782A>C | |
| 20 | g.10641461G>A | CA408244689 | JAG1 | c.2915C>T (p.Pro972Leu) n.2781C>T | |
| 20 | g.10641461G>C | CA408244690 | JAG1 | c.2915C>G (p.Pro972Arg) n.2781C>G | |
| 20 | g.10641461G>T | CA408244691 | JAG1 | c.2915C>A (p.Pro972Gln) n.2781C>A | |
| 20 | g.10641462del | CA2651913638 | JAG1 | c.2915del (p.Pro972GlnfsTer12) n.2781del | gnomAD v4 |
| 20 | g.10641462G>A | CA408244692 | JAG1 | c.2914C>T (p.Pro972Ser) n.2780C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.10641462G>C | CA408244693 | JAG1 | c.2914C>G (p.Pro972Ala) n.2780C>G | ClinVar dbSNP |
| 20 | g.10641462G= | CA2349880849 | JAG1 | c.2914C= (p.Pro972=) n.2780C= | |
| 20 | g.10641462G>T | CA408244694 | JAG1 | c.2914C>A (p.Pro972Thr) n.2780C>A | gnomAD v4 |
| 20 | g.10641463_10641464del | CA2695229641 | JAG1 | c.2913_2914del (p.Pro972ArgfsTer10) n.2779_2780del | |
| 20 | g.10641463T>A | CA509815981 | JAG1 | c.2913A>T (p.Ser971=) n.2779A>T | |
| 20 | g.10641463T>C | CA509815982 | JAG1 | c.2913A>G (p.Ser971=) n.2779A>G | gnomAD v4 COSMIC COSMIC |
| 20 | g.10641463T>G | CA509815983 | JAG1 | c.2913A>C (p.Ser971=) n.2779A>C | gnomAD v4 |
| 20 | g.10641464_10641468del | CA2695229642 | JAG1 | c.2909_2913del (p.Met970ThrfsTer11) n.2775_2779del | |
| 20 | g.10641464G>A | CA408244695 | JAG1 | c.2912C>T (p.Ser971Leu) n.2778C>T | |
| 20 | g.10641464G>C | CA408244696 | JAG1 | c.2912C>G (p.Ser971Ter) n.2778C>G | |
| 20 | g.10641464G>T | CA408244697 | JAG1 | c.2912C>A (p.Ser971Ter) n.2778C>A | |
| 20 | g.10641465A= | CA2349880850 | JAG1 | c.2911T= (p.Ser971=) n.2777T= | |
| 20 | g.10641465A>C | CA408244698 | JAG1 | c.2911T>G (p.Ser971Ala) n.2777T>G | |
| 20 | g.10641465A>G | CA9764369 | JAG1 | c.2911T>C (p.Ser971Pro) n.2777T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641465A>T | CA408244699 | JAG1 | c.2911T>A (p.Ser971Thr) n.2777T>A | |
| 20 | g.10641466C>A | CA408244702 | JAG1 | c.2910G>T (p.Met970Ile) n.2776G>T | |
| 20 | g.10641466C= | CA2349880851 | JAG1 | c.2910G= (p.Met970=) n.2776G= | |
| 20 | g.10641466C>G | CA408244701 | JAG1 | c.2910G>C (p.Met970Ile) n.2776G>C | |
| 20 | g.10641466C>T | CA408244700 | JAG1 | c.2910G>A (p.Met970Ile) n.2776G>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.10641470_10641472del | CA2651913648 | JAG1 | c.2908_2910del (p.Met970del) n.2774_2776del | gnomAD v4 |
| 20 | g.10641467A>C | CA408244703 | JAG1 | c.2909T>G (p.Met970Arg) n.2775T>G | |
| 20 | g.10641467A>G | CA408244704 | JAG1 | c.2909T>C (p.Met970Thr) n.2775T>C | gnomAD v4 |
| 20 | g.10641467A>T | CA408244705 | JAG1 | c.2909T>A (p.Met970Lys) n.2775T>A | |
| 20 | g.10641468T>A | CA408244706 | JAG1 | c.2908A>T (p.Met970Leu) n.2774A>T | |
| 20 | g.10641468T>C | CA408244707 | JAG1 | c.2908A>G (p.Met970Val) n.2774A>G | |
| 20 | g.10641468T>G | CA408244708 | JAG1 | c.2908A>C (p.Met970Leu) n.2774A>C | |
| 20 | g.10641469C>A | CA408244709 | JAG1 | c.2907G>T (p.Met969Ile) n.2773G>T | gnomAD v4 |
| 20 | g.10641469C= | CA2349880852 | JAG1 | c.2907G= (p.Met969=) n.2773G= | |
| 20 | g.10641469C>G | CA408244710 | JAG1 | c.2907G>C (p.Met969Ile) n.2773G>C | |
| 20 | g.10641469C>T | CA9764370 | JAG1 | c.2907G>A (p.Met969Ile) n.2773G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641470A= | CA2349880853 | JAG1 | c.2906T= (p.Met969=) n.2772T= | |
| 20 | g.10641470A>C | CA408244711 | JAG1 | c.2906T>G (p.Met969Arg) n.2772T>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641470A>G | CA311368674 | JAG1 | c.2906T>C (p.Met969Thr) n.2772T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641470A>T | CA408244712 | JAG1 | c.2906T>A (p.Met969Lys) n.2772T>A | |
| 20 | g.10641471T>A | CA408244715 | JAG1 | c.2905A>T (p.Met969Leu) n.2771A>T | |
| 20 | g.10641471T>C | CA408244714 | JAG1 | c.2905A>G (p.Met969Val) n.2771A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641471T>G | CA408244713 | JAG1 | c.2905A>C (p.Met969Leu) n.2771A>C | |
| 20 | g.10641471T= | CA2349880854 | JAG1 | c.2905A= (p.Met969=) n.2771A= | |
| 20 | g.10641472C>A | CA408244716 | JAG1 | c.2904G>T (p.Glu968Asp) n.2770G>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10641472C= | CA2349880855 | JAG1 | c.2904G= (p.Glu968=) n.2770G= | |
| 20 | g.10641472C>G | CA408244717 | JAG1 | c.2904G>C (p.Glu968Asp) n.2770G>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.10641472C>T | CA509815984 | JAG1 | c.2904G>A (p.Glu968=) n.2770G>A | |
| 20 | g.10641473T>A | CA408244718 | JAG1 | c.2903A>T (p.Glu968Val) n.2769A>T | |
| 20 | g.10641473T>C | CA408244719 | JAG1 | c.2903A>G (p.Glu968Gly) n.2769A>G | |
| 20 | g.10641473T>G | CA408244720 | JAG1 | c.2903A>C (p.Glu968Ala) n.2769A>C | |
| 20 | g.10641474C>A | CA408244722 | JAG1 | c.2902G>T (p.Glu968Ter) n.2768G>T | |
| 20 | g.10641474C= | CA2349880856 | JAG1 | c.2902G= (p.Glu968=) n.2768G= | |
| 20 | g.10641474C>G | CA311368677 | JAG1 | c.2902G>C (p.Glu968Gln) n.2768G>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.10641474C>T | CA408244721 | JAG1 | c.2902G>A (p.Glu968Lys) n.2768G>A | gnomAD v4 |
| 20 | g.10641475C>A | CA408244723 | JAG1 | c.2901G>T (p.Lys967Asn) n.2767G>T | |
| 20 | g.10641475C= | CA2349880857 | JAG1 | c.2901G= (p.Lys967=) n.2767G= | |
| 20 | g.10641475C>G | CA408244724 | JAG1 | c.2901G>C (p.Lys967Asn) n.2767G>C | |
| 20 | g.10641475C>T | CA9764371 | JAG1 | c.2901G>A (p.Lys967=) n.2767G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 20 | g.10641475_10641477del | CA2697547294 | JAG1 | c.2899_2901del (p.Lys967del) n.2765_2767del | ClinVar |
| 20 | g.10641476T>A | CA408244725 | JAG1 | c.2900A>T (p.Lys967Met) n.2766A>T | |
| 20 | g.10641476T>C | CA408244726 | JAG1 | c.2900A>G (p.Lys967Arg) n.2766A>G | gnomAD v4 |
| 20 | g.10641476T>G | CA408244727 | JAG1 | c.2900A>C (p.Lys967Thr) n.2766A>C | |
| 20 | g.10641477T>A | CA408244728 | JAG1 | c.2899A>T (p.Lys967Ter) n.2765A>T | |
| 20 | g.10641477T>C | CA408244730 | JAG1 | c.2899A>G (p.Lys967Glu) n.2765A>G | gnomAD v4 |
| 20 | g.10641477T>G | CA408244729 | JAG1 | c.2899A>C (p.Lys967Gln) n.2765A>C | |
| 20 | g.10641478G>A | CA509815985 | JAG1 | c.2898C>T (p.Asn966=) n.2764C>T | |
| 20 | g.10641478G>C | CA408244731 | JAG1 | c.2898C>G (p.Asn966Lys) n.2764C>G | COSMIC COSMIC |
| 20 | g.10641478G>T | CA408244732 | JAG1 | c.2898C>A (p.Asn966Lys) n.2764C>A | |
| 20 | g.10641478dup | CA2695229643 | JAG1 | c.2898dup (p.Lys967GlnfsTer16) n.2764dup | |
| 20 | g.10641479T>A | CA408244733 | JAG1 | c.2897A>T (p.Asn966Ile) n.2763A>T | |
| 20 | g.10641479T>C | CA408244734 | JAG1 | c.2897A>G (p.Asn966Ser) n.2763A>G | |
| 20 | g.10641479T>G | CA408244735 | JAG1 | c.2897A>C (p.Asn966Thr) n.2763A>C | |
| 20 | g.10641480T>A | CA408244736 | JAG1 | c.2896A>T (p.Asn966Tyr) n.2762A>T | |
| 20 | g.10641480T>C | CA408244737 | JAG1 | c.2896A>G (p.Asn966Asp) n.2762A>G | gnomAD v4 |
| 20 | g.10641480T>G | CA408244738 | JAG1 | c.2896A>C (p.Asn966His) n.2762A>C | |
| 20 | g.10641480T= | CA2349880858 | JAG1 | c.2896A= (p.Asn966=) n.2762A= | |
| 20 | g.10641481A>C | CA408244739 | JAG1 | c.2895T>G (p.Phe965Leu) n.2761T>G | |
| 20 | g.10641481A>G | CA509815986 | JAG1 | c.2895T>C (p.Phe965=) n.2761T>C | |
| 20 | g.10641481A>T | CA408244740 | JAG1 | c.2895T>A (p.Phe965Leu) n.2761T>A | |
| 20 | g.10641483dup | CA10583870 | JAG1 | c.2895dup (p.Asn966Ter) n.2761dup | ClinVar dbSNP |
| 20 | g.10641482A>C | CA408244742 | JAG1 | c.2894T>G (p.Phe965Cys) n.2760T>G | |
| 20 | g.10641482A>G | CA408244743 | JAG1 | c.2894T>C (p.Phe965Ser) n.2760T>C | |
| 20 | g.10641482A>T | CA408244741 | JAG1 | c.2894T>A (p.Phe965Tyr) n.2760T>A | |
| 20 | g.10641483A>C | CA408244744 | JAG1 | c.2893T>G (p.Phe965Val) n.2759T>G | |
| 20 | g.10641483A>G | CA408244746 | JAG1 | c.2893T>C (p.Phe965Leu) n.2759T>C | |
| 20 | g.10641483A>T | CA408244745 | JAG1 | c.2893T>A (p.Phe965Ile) n.2759T>A | |
| 20 | g.10641484G>A | CA509815987 | JAG1 | c.2892C>T (p.Thr964=) n.2758C>T | gnomAD v4 |
| 20 | g.10641484G>C | CA509815988 | JAG1 | c.2892C>G (p.Thr964=) n.2758C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10641484G= | CA2349880859 | JAG1 | c.2892C= (p.Thr964=) n.2758C= | |
| 20 | g.10641484G>T | CA509815989 | JAG1 | c.2892C>A (p.Thr964=) n.2758C>A | |
| 20 | g.10641485G>A | CA408244747 | JAG1 | c.2891C>T (p.Thr964Ile) n.2757C>T | gnomAD v4 |
| 20 | g.10641485G>C | CA408244748 | JAG1 | c.2891C>G (p.Thr964Ser) n.2757C>G | |
| 20 | g.10641485G>T | CA408244749 | JAG1 | c.2891C>A (p.Thr964Asn) n.2757C>A | |
| 20 | g.10641486T>A | CA408244750 | JAG1 | c.2890A>T (p.Thr964Ser) n.2756A>T | |
| 20 | g.10641486T>C | CA408244751 | JAG1 | c.2890A>G (p.Thr964Ala) n.2756A>G | |
| 20 | g.10641486T>G | CA408244752 | JAG1 | c.2890A>C (p.Thr964Pro) n.2756A>C | |
| 20 | g.10641487A>C | CA408244754 | JAG1 | c.2889T>G (p.Phe963Leu) n.2755T>G | |
| 20 | g.10641487A>G | CA509815990 | JAG1 | c.2889T>C (p.Phe963=) n.2755T>C | gnomAD v4 |
| 20 | g.10641487A>T | CA408244753 | JAG1 | c.2889T>A (p.Phe963Leu) n.2755T>A | |
| 20 | g.10641489del | CA509815991 | JAG1 | c.2889del (p.Phe963LeufsTer7) n.2755del | COSMIC COSMIC |
| 20 | g.10641488A>C | CA408244755 | JAG1 | c.2888T>G (p.Phe963Cys) n.2754T>G | |
| 20 | g.10641488A>G | CA408244756 | JAG1 | c.2888T>C (p.Phe963Ser) n.2754T>C | |
| 20 | g.10641488A>T | CA408244757 | JAG1 | c.2888T>A (p.Phe963Tyr) n.2754T>A | |
| 20 | g.10641489A>C | CA408244758 | JAG1 | c.2887T>G (p.Phe963Val) n.2753T>G | |
| 20 | g.10641489A>G | CA408244759 | JAG1 | c.2887T>C (p.Phe963Leu) n.2753T>C | |
| 20 | g.10641489A>T | CA408244760 | JAG1 | c.2887T>A (p.Phe963Ile) n.2753T>A | |
| 20 | g.10641490T>A | CA509815992 | JAG1 | c.2886A>T (p.Thr962=) n.2752A>T | |
| 20 | g.10641490T>C | CA509815993 | JAG1 | c.2886A>G (p.Thr962=) n.2752A>G | dbSNP |
| 20 | g.10641490T>G | CA509815994 | JAG1 | c.2886A>C (p.Thr962=) n.2752A>C | |
| 20 | g.10641491G>A | CA408244762 | JAG1 | c.2885C>T (p.Thr962Ile) n.2751C>T | gnomAD v4 |
| 20 | g.10641491G>C | CA408244761 | JAG1 | c.2885C>G (p.Thr962Arg) n.2751C>G | |
| 20 | g.10641491G= | CA2349880860 | JAG1 | c.2885C= (p.Thr962=) n.2751C= | |
| 20 | g.10641491G>T | CA9764372 | JAG1 | c.2885C>A (p.Thr962Lys) n.2751C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641492T>A | CA408244763 | JAG1 | c.2884A>T (p.Thr962Ser) n.2750A>T | |
| 20 | g.10641492T>C | CA9764373 | JAG1 | c.2884A>G (p.Thr962Ala) n.2750A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641492T>G | CA408244764 | JAG1 | c.2884A>C (p.Thr962Pro) n.2750A>C | |
| 20 | g.10641492T= | CA2349880861 | JAG1 | c.2884A= (p.Thr962=) n.2750A= | |
| 20 | g.10641493G>A | CA509815996 | JAG1 | c.2883C>T (p.Ile961=) n.2749C>T | |
| 20 | g.10641493G>C | CA408244765 | JAG1 | c.2883C>G (p.Ile961Met) n.2749C>G | |
| 20 | g.10641493G>T | CA509815995 | JAG1 | c.2883C>A (p.Ile961=) n.2749C>A | |
| 20 | g.10641494A>C | CA408244766 | JAG1 | c.2882T>G (p.Ile961Ser) n.2748T>G | |
| 20 | g.10641494A>G | CA408244767 | JAG1 | c.2882T>C (p.Ile961Thr) n.2748T>C | |
| 20 | g.10641494A>T | CA408244768 | JAG1 | c.2882T>A (p.Ile961Asn) n.2748T>A | |
| 20 | g.10641495T>A | CA408244769 | JAG1 | c.2881A>T (p.Ile961Phe) n.2747A>T | |
| 20 | g.10641495T>C | CA311368710 | JAG1 | c.2881A>G (p.Ile961Val) n.2747A>G | ClinVar dbSNP |
| 20 | g.10641495T>G | CA408244770 | JAG1 | c.2881A>C (p.Ile961Leu) n.2747A>C | |
| 20 | g.10641495T= | CA2349880862 | JAG1 | c.2881A= (p.Ile961=) n.2747A= | |
| 20 | g.10641496G>A | CA509815997 | JAG1 | c.2880C>T (p.Asn960=) n.2746C>T | COSMIC COSMIC |
| 20 | g.10641496G>C | CA408244771 | JAG1 | c.2880C>G (p.Asn960Lys) n.2746C>G | |
| 20 | g.10641496G>T | CA408244772 | JAG1 | c.2880C>A (p.Asn960Lys) n.2746C>A | |
| 20 | g.10641496_10641508delinsGTTCGCACAGTTA | CA2349880863 | JAG1 | c.2868_2880delinsTAACTGTGCGAAC (p.Asp956=) n.2734_2746delinsTAACTGTGCGAAC | |
| 20 | g.10641497T>A | CA408244775 | JAG1 | c.2879A>T (p.Asn960Ile) n.2745A>T | gnomAD v4 |
| 20 | g.10641497T>C | CA408244773 | JAG1 | c.2879A>G (p.Asn960Ser) n.2745A>G | dbSNP gnomAD v4 |
| 20 | g.10641497T>G | CA408244774 | JAG1 | c.2879A>C (p.Asn960Thr) n.2745A>C | |
| 20 | g.10641498_10641509del | CA2349880864 | JAG1 | c.2868_2879del (p.Asn957_Asn960del) n.2734_2745del | dbSNP |
| 20 | g.10641498T>A | CA408244776 | JAG1 | c.2878A>T (p.Asn960Tyr) n.2744A>T | |
| 20 | g.10641498T>C | CA408244777 | JAG1 | c.2878A>G (p.Asn960Asp) n.2744A>G | COSMIC COSMIC |
| 20 | g.10641498T>G | CA408244778 | JAG1 | c.2878A>C (p.Asn960His) n.2744A>C | |
| 20 | g.10641499C>A | CA509815998 | JAG1 | c.2877G>T (p.Ala959=) n.2743G>T | |
| 20 | g.10641499C= | CA2349880865 | JAG1 | c.2877G= (p.Ala959=) n.2743G= | |
| 20 | g.10641499C>G | CA509815999 | JAG1 | c.2877G>C (p.Ala959=) n.2743G>C | |
| 20 | g.10641499C>T | CA9764374 | JAG1 | c.2877G>A (p.Ala959=) n.2743G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.10641500G>A | CA9764375 | JAG1 | c.2876C>T (p.Ala959Val) n.2742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10641500G>C | CA408244779 | JAG1 | c.2876C>G (p.Ala959Gly) n.2742C>G | |
| 20 | g.10641500G= | CA2349880866 | JAG1 | c.2876C= (p.Ala959=) n.2742C= | |
| 20 | g.10641500G>T | CA408244780 | JAG1 | c.2876C>A (p.Ala959Glu) n.2742C>A | |
| 20 | g.10641501C>A | CA408244781 | JAG1 | c.2875G>T (p.Ala959Ser) n.2741G>T | |
| 20 | g.10641501C= | CA2349880867 | JAG1 | c.2875G= (p.Ala959=) n.2741G= | |
| 20 | g.10641501C>G | CA408244782 | JAG1 | c.2875G>C (p.Ala959Pro) n.2741G>C | |
| 20 | g.10641501C>T | CA408244783 | JAG1 | c.2875G>A (p.Ala959Thr) n.2741G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641503_10641504del | CA2695229644 | JAG1 | c.2874_2875del (p.Ala959GlufsTer7) n.2740_2741del | |
| 20 | g.10641502A>C | CA408244784 | JAG1 | c.2874T>G (p.Cys958Trp) n.2740T>G | |
| 20 | g.10641502A>G | CA509816000 | JAG1 | c.2874T>C (p.Cys958=) n.2740T>C | |
| 20 | g.10641502A>T | CA408244785 | JAG1 | c.2874T>A (p.Cys958Ter) n.2740T>A | |
| 20 | g.10641503C>A | CA408244788 | JAG1 | c.2873G>T (p.Cys958Phe) n.2739G>T | |
| 20 | g.10641503C>G | CA408244787 | JAG1 | c.2873G>C (p.Cys958Ser) n.2739G>C | |
| 20 | g.10641503C>T | CA408244786 | JAG1 | c.2873G>A (p.Cys958Tyr) n.2739G>A | |
| 20 | g.10641504A>C | CA408244789 | JAG1 | c.2872T>G (p.Cys958Gly) n.2738T>G | |
| 20 | g.10641504A>G | CA408244790 | JAG1 | c.2872T>C (p.Cys958Arg) n.2738T>C | |
| 20 | g.10641504A>T | CA408244791 | JAG1 | c.2872T>A (p.Cys958Ser) n.2738T>A | |
| 20 | g.10641505G>A | CA509816001 | JAG1 | c.2871C>T (p.Asn957=) n.2737C>T | |
| 20 | g.10641505G>C | CA408244792 | JAG1 | c.2871C>G (p.Asn957Lys) n.2737C>G | |
| 20 | g.10641505G>T | CA408244793 | JAG1 | c.2871C>A (p.Asn957Lys) n.2737C>A | |
| 20 | g.10641506T>A | CA408244794 | JAG1 | c.2870A>T (p.Asn957Ile) n.2736A>T | |
| 20 | g.10641506T>C | CA408244795 | JAG1 | c.2870A>G (p.Asn957Ser) n.2736A>G | |
| 20 | g.10641506T>G | CA408244796 | JAG1 | c.2870A>C (p.Asn957Thr) n.2736A>C | |
| 20 | g.10641507T>A | CA408244797 | JAG1 | c.2869A>T (p.Asn957Tyr) n.2735A>T | |
| 20 | g.10641507T>C | CA408244798 | JAG1 | c.2869A>G (p.Asn957Asp) n.2735A>G | |
| 20 | g.10641507T>G | CA408244799 | JAG1 | c.2869A>C (p.Asn957His) n.2735A>C | |
| 20 | g.10641508A= | CA2349880868 | JAG1 | c.2868T= (p.Asp956=) n.2734T= | |
| 20 | g.10641508A>C | CA408244800 | JAG1 | c.2868T>G (p.Asp956Glu) n.2734T>G | |
| 20 | g.10641508A>G | CA509816002 | JAG1 | c.2868T>C (p.Asp956=) n.2734T>C | |
| 20 | g.10641508A>T | CA408244801 | JAG1 | c.2868T>A (p.Asp956Glu) n.2734T>A | dbSNP |
| 20 | g.10641509T>A | CA408244803 | JAG1 | c.2867A>T (p.Asp956Val) n.2733A>T | |
| 20 | g.10641509T>C | CA408244804 | JAG1 | c.2867A>G (p.Asp956Gly) n.2733A>G | |
| 20 | g.10641509T>G | CA408244802 | JAG1 | c.2867A>C (p.Asp956Ala) n.2733A>C | |
| 20 | g.10641510C>A | CA408244805 | JAG1 | c.2866G>T (p.Asp956Tyr) n.2732G>T | |
| 20 | g.10641510C= | CA2349880869 | JAG1 | c.2866G= (p.Asp956=) n.2732G= | |
| 20 | g.10641510C>G | CA9764376 | JAG1 | c.2866G>C (p.Asp956His) n.2732G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 20 | g.10641510C>T | CA408244806 | JAG1 | c.2866G>A (p.Asp956Asn) n.2732G>A | gnomAD v4 |
| 20 | g.10641511C>A | CA408244807 | JAG1 | c.2865G>T (p.Gln955His) n.2731G>T | |
| 20 | g.10641511C= | CA2349880870 | JAG1 | c.2865G= (p.Gln955=) n.2731G= | |
| 20 | g.10641511C>G | CA408244808 | JAG1 | c.2865G>C (p.Gln955His) n.2731G>C | |
| 20 | g.10641511C>T | CA509816003 | JAG1 | c.2865G>A (p.Gln955=) n.2731G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10641512T>A | CA408244809 | JAG1 | c.2864A>T (p.Gln955Leu) n.2730A>T | |
| 20 | g.10641512T>C | CA9764377 | JAG1 | c.2864A>G (p.Gln955Arg) n.2730A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641512T>G | CA408244810 | JAG1 | c.2864A>C (p.Gln955Pro) n.2730A>C | |
| 20 | g.10641512T= | CA2349880871 | JAG1 | c.2864A= (p.Gln955=) n.2730A= | |
| 20 | g.10641513G>A | CA408244811 | JAG1 | c.2863C>T (p.Gln955Ter) n.2729C>T | ClinVar dbSNP |
| 20 | g.10641513G>C | CA408244812 | JAG1 | c.2863C>G (p.Gln955Glu) n.2729C>G | |
| 20 | g.10641513G>T | CA408244813 | JAG1 | c.2863C>A (p.Gln955Lys) n.2729C>A | |
| 20 | g.10641514G>A | CA509816004 | JAG1 | c.2862C>T (p.Tyr954=) n.2728C>T | gnomAD v4 |
| 20 | g.10641514G>C | CA408244814 | JAG1 | c.2862C>G (p.Tyr954Ter) n.2728C>G | |
| 20 | g.10641514G>T | CA408244815 | JAG1 | c.2862C>A (p.Tyr954Ter) n.2728C>A | |
| 20 | g.10641515T>A | CA408244818 | JAG1 | c.2861A>T (p.Tyr954Phe) n.2727A>T | |
| 20 | g.10641515T>C | CA408244817 | JAG1 | c.2861A>G (p.Tyr954Cys) n.2727A>G | |
| 20 | g.10641515T>G | CA408244816 | JAG1 | c.2861A>C (p.Tyr954Ser) n.2727A>C | |
| 20 | g.10641516A>C | CA408244819 | JAG1 | c.2860T>G (p.Tyr954Asp) n.2726T>G | |
| 20 | g.10641516A>G | CA408244820 | JAG1 | c.2860T>C (p.Tyr954His) n.2726T>C | gnomAD v4 |
| 20 | g.10641516A>T | CA408244821 | JAG1 | c.2860T>A (p.Tyr954Asn) n.2726T>A | |
| 20 | g.10641517A= | CA2349880872 | JAG1 | c.2859T= (p.Tyr953=) n.2725T= | |
| 20 | g.10641517A>C | CA408244822 | JAG1 | c.2859T>G (p.Tyr953Ter) n.2725T>G | |
| 20 | g.10641517A>G | CA509816005 | JAG1 | c.2859T>C (p.Tyr953=) n.2725T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641517A>T | CA408244823 | JAG1 | c.2859T>A (p.Tyr953Ter) n.2725T>A | |
| 20 | g.10641518T>A | CA408244824 | JAG1 | c.2858A>T (p.Tyr953Phe) n.2724A>T | |
| 20 | g.10641518T>C | CA408244825 | JAG1 | c.2858A>G (p.Tyr953Cys) n.2724A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.10641518T>G | CA408244826 | JAG1 | c.2858A>C (p.Tyr953Ser) n.2724A>C | |
| 20 | g.10641518T= | CA2349880873 | JAG1 | c.2858A= (p.Tyr953=) n.2724A= | |
| 20 | g.10641519A= | CA2349880874 | JAG1 | c.2857T= (p.Tyr953=) n.2723T= | |
| 20 | g.10641519A>C | CA408244827 | JAG1 | c.2857T>G (p.Tyr953Asp) n.2723T>G | |
| 20 | g.10641519A>G | CA9764378 | JAG1 | c.2857T>C (p.Tyr953His) n.2723T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641519A>T | CA408244828 | JAG1 | c.2857T>A (p.Tyr953Asn) n.2723T>A | |
| 20 | g.10641522_10641530del | CA2651913654 | JAG1 | c.2849_2857del (p.Ser950_Ser952del) n.2715_2723del | gnomAD v4 |
| 20 | g.10641520G>A | CA509816006 | JAG1 | c.2856C>T (p.Ser952=) n.2722C>T | |
| 20 | g.10641520G>C | CA509816008 | JAG1 | c.2856C>G (p.Ser952=) n.2722C>G | |
| 20 | g.10641520G>T | CA509816007 | JAG1 | c.2856C>A (p.Ser952=) n.2722C>A | gnomAD v4 |
| 20 | g.10641521G>A | CA408244831 | JAG1 | c.2855C>T (p.Ser952Phe) n.2721C>T | |
| 20 | g.10641521G>C | CA408244830 | JAG1 | c.2855C>G (p.Ser952Cys) n.2721C>G | |
| 20 | g.10641521G>T | CA408244829 | JAG1 | c.2855C>A (p.Ser952Tyr) n.2721C>A | |
| 20 | g.10641522A>C | CA408244832 | JAG1 | c.2854T>G (p.Ser952Ala) n.2720T>G | |
| 20 | g.10641522A>G | CA408244833 | JAG1 | c.2854T>C (p.Ser952Pro) n.2720T>C | gnomAD v4 |
| 20 | g.10641522A>T | CA408244834 | JAG1 | c.2854T>A (p.Ser952Thr) n.2720T>A | gnomAD v4 |
| 20 | g.10641523G>A | CA9764379 | JAG1 | c.2853C>T (p.Asp951=) n.2719C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641523G>C | CA408244835 | JAG1 | c.2853C>G (p.Asp951Glu) n.2719C>G | dbSNP |
| 20 | g.10641523G= | CA2349880875 | JAG1 | c.2853C= (p.Asp951=) n.2719C= | |
| 20 | g.10641523G>T | CA408244836 | JAG1 | c.2853C>A (p.Asp951Glu) n.2719C>A | |
| 20 | g.10641524T>A | CA408244837 | JAG1 | c.2852A>T (p.Asp951Val) n.2718A>T | |
| 20 | g.10641524T>C | CA9764380 | JAG1 | c.2852A>G (p.Asp951Gly) n.2718A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641524T>G | CA408244838 | JAG1 | c.2852A>C (p.Asp951Ala) n.2718A>C | |
| 20 | g.10641524T= | CA2349880876 | JAG1 | c.2852A= (p.Asp951=) n.2718A= | |
| 20 | g.10641525C>A | CA408244839 | JAG1 | c.2851G>T (p.Asp951Tyr) n.2717G>T | |
| 20 | g.10641525C>G | CA408244840 | JAG1 | c.2851G>C (p.Asp951His) n.2717G>C | |
| 20 | g.10641525C>T | CA408244841 | JAG1 | c.2851G>A (p.Asp951Asn) n.2717G>A | |
| 20 | g.10641526del | CA2695229645 | JAG1 | c.2850del (p.Asp951ThrfsTer19) n.2716del | |
| 20 | g.10641526A>C | CA509816010 | JAG1 | c.2850T>G (p.Ser950=) n.2716T>G | gnomAD v4 |
| 20 | g.10641526A>G | CA509816012 | JAG1 | c.2850T>C (p.Ser950=) n.2716T>C | |
| 20 | g.10641526A>T | CA509816015 | JAG1 | c.2850T>A (p.Ser950=) n.2716T>A | |
| 20 | g.10641527G>A | CA408244844 | JAG1 | c.2849C>T (p.Ser950Phe) n.2715C>T | |
| 20 | g.10641527G>C | CA408244842 | JAG1 | c.2849C>G (p.Ser950Cys) n.2715C>G | |
| 20 | g.10641527G>T | CA408244843 | JAG1 | c.2849C>A (p.Ser950Tyr) n.2715C>A | |
| 20 | g.10641528A>C | CA408244845 | JAG1 | c.2848T>G (p.Ser950Ala) n.2714T>G | |
| 20 | g.10641528A>G | CA408244846 | JAG1 | c.2848T>C (p.Ser950Pro) n.2714T>C | |
| 20 | g.10641528A>T | CA408244847 | JAG1 | c.2848T>A (p.Ser950Thr) n.2714T>A | |
| 20 | g.10641529G>A | CA9764381 | JAG1 | c.2847C>T (p.Thr949=) n.2713C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10641529G>C | CA509816017 | JAG1 | c.2847C>G (p.Thr949=) n.2713C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641529G= | CA2349880877 | JAG1 | c.2847C= (p.Thr949=) n.2713C= | |
| 20 | g.10641529G>T | CA509816018 | JAG1 | c.2847C>A (p.Thr949=) n.2713C>A | |
| 20 | g.10641530G>A | CA408244848 | JAG1 | c.2846C>T (p.Thr949Ile) n.2712C>T | |
| 20 | g.10641530G>C | CA408244849 | JAG1 | c.2846C>G (p.Thr949Ser) n.2712C>G | |
| 20 | g.10641530G>T | CA408244850 | JAG1 | c.2846C>A (p.Thr949Asn) n.2712C>A | |
| 20 | g.10641531T>A | CA408244851 | JAG1 | c.2845A>T (p.Thr949Ser) n.2711A>T | |
| 20 | g.10641531T>C | CA408244852 | JAG1 | c.2845A>G (p.Thr949Ala) n.2711A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10641531T>G | CA408244853 | JAG1 | c.2845A>C (p.Thr949Pro) n.2711A>C | |
| 20 | g.10641531T= | CA2349880878 | JAG1 | c.2845A= (p.Thr949=) n.2711A= | |
| 20 | g.10641532del | CA2695229646 | JAG1 | c.2844del (p.Cys948Ter) n.2710del | |
| 20 | g.10641532G>A | CA509816019 | JAG1 | c.2844C>T (p.Cys948=) n.2710C>T | gnomAD v4 |
| 20 | g.10641532G>C | CA408244854 | JAG1 | c.2844C>G (p.Cys948Trp) n.2710C>G | |
| 20 | g.10641532G= | CA2349880879 | JAG1 | c.2844C= (p.Cys948=) n.2710C= | |
| 20 | g.10641532G>T | CA16616233 | JAG1 | c.2844C>A (p.Cys948Ter) n.2710C>A | ClinVar dbSNP |
| 20 | g.10641533C>A | CA408244856 | JAG1 | c.2843G>T (p.Cys948Phe) n.2709G>T | gnomAD v4 |
| 20 | g.10641533C>G | CA408244857 | JAG1 | c.2843G>C (p.Cys948Ser) n.2709G>C | |
| 20 | g.10641533C>T | CA408244855 | JAG1 | c.2843G>A (p.Cys948Tyr) n.2709G>A | gnomAD v4 |
| 20 | g.10641534A= | CA2349880880 | JAG1 | c.2842T= (p.Cys948=) n.2708T= | |
| 20 | g.10641534A>C | CA408244858 | JAG1 | c.2842T>G (p.Cys948Gly) n.2708T>G | |
| 20 | g.10641534A>G | CA9764382 | JAG1 | c.2842T>C (p.Cys948Arg) n.2708T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641534A>T | CA408244859 | JAG1 | c.2842T>A (p.Cys948Ser) n.2708T>A | |
| 20 | g.10641535C>A | CA408244860 | JAG1 | c.2841G>T (p.Lys947Asn) n.2707G>T | |
| 20 | g.10641535C>G | CA408244861 | JAG1 | c.2841G>C (p.Lys947Asn) n.2707G>C | |
| 20 | g.10641535C>T | CA509816023 | JAG1 | c.2841G>A (p.Lys947=) n.2707G>A | |
| 20 | g.10641535_10641536delinsCT | CA2349880881 | JAG1 | c.2840_2841delinsAG (p.Lys947=) n.2706_2707delinsAG | |
| 20 | g.10641536T>A | CA408244862 | JAG1 | c.2840A>T (p.Lys947Met) n.2706A>T | |
| 20 | g.10641536T>C | CA408244863 | JAG1 | c.2840A>G (p.Lys947Arg) n.2706A>G | |
| 20 | g.10641536T>G | CA408244864 | JAG1 | c.2840A>C (p.Lys947Thr) n.2706A>C | |
| 20 | g.10641538del | CA16616203 | JAG1 | c.2840del (p.Lys947SerfsTer23) n.2706del | ClinVar dbSNP |
| 20 | g.10641537T>A | CA408244865 | JAG1 | c.2839A>T (p.Lys947Ter) n.2705A>T | |
| 20 | g.10641537T>C | CA408244866 | JAG1 | c.2839A>G (p.Lys947Glu) n.2705A>G | |
| 20 | g.10641537T>G | CA408244867 | JAG1 | c.2839A>C (p.Lys947Gln) n.2705A>C | |
| 20 | g.10641538T>A | CA509816027 | JAG1 | c.2838A>T (p.Thr946=) n.2704A>T | |
| 20 | g.10641538T>C | CA509816028 | JAG1 | c.2838A>G (p.Thr946=) n.2704A>G | |
| 20 | g.10641538T>G | CA509816029 | JAG1 | c.2838A>C (p.Thr946=) n.2704A>C | |
| 20 | g.10641539G>A | CA9764383 | JAG1 | c.2837C>T (p.Thr946Ile) n.2703C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10641539G>C | CA408244868 | JAG1 | c.2837C>G (p.Thr946Arg) n.2703C>G | |
| 20 | g.10641539G= | CA2349880882 | JAG1 | c.2837C= (p.Thr946=) n.2703C= | |
| 20 | g.10641539G>T | CA408244869 | JAG1 | c.2837C>A (p.Thr946Lys) n.2703C>A | gnomAD v4 |
| 20 | g.10641540del | CA2695229647 | JAG1 | c.2836del (p.Thr946GlnfsTer24) n.2702del | |
| 20 | g.10641540T>A | CA408244870 | JAG1 | c.2836A>T (p.Thr946Ser) n.2702A>T | |
| 20 | g.10641540T>C | CA408244871 | JAG1 | c.2836A>G (p.Thr946Ala) n.2702A>G | |
| 20 | g.10641540T>G | CA408244872 | JAG1 | c.2836A>C (p.Thr946Pro) n.2702A>C | |
| 20 | g.10641541C>A | CA408244873 | JAG1 | c.2835G>T (p.Lys945Asn) n.2701G>T | dbSNP |
| 20 | g.10641541C= | CA2349880883 | JAG1 | c.2835G= (p.Lys945=) n.2701G= | |
| 20 | g.10641541C>G | CA408244874 | JAG1 | c.2835G>C (p.Lys945Asn) n.2701G>C | |
| 20 | g.10641541C>T | CA509816034 | JAG1 | c.2835G>A (p.Lys945=) n.2701G>A |