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 |
|---|---|---|---|---|---|
| 2 | g.233767160C>A | CA351072460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>A (p.Gln328Lys) c.994C>A (p.Gln332Lys) c.988C>A (p.Gln330Lys) c.991C>A (p.Gln331Lys) c.187C>A (p.Gln63Lys) | |
| 2 | g.233767160C= | CA1335894743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C= (p.Gln328=) c.994C= (p.Gln332=) c.988C= (p.Gln330=) c.991C= (p.Gln331=) c.187C= (p.Gln63=) | |
| 2 | g.233767160C>G | CA351072458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>G (p.Gln328Glu) c.994C>G (p.Gln332Glu) c.988C>G (p.Gln330Glu) c.991C>G (p.Gln331Glu) c.187C>G (p.Gln63Glu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767160C>T | CA122017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>T (p.Gln328Ter) c.994C>T (p.Gln332Ter) c.988C>T (p.Gln330Ter) c.991C>T (p.Gln331Ter) c.187C>T (p.Gln63Ter) | ClinVar dbSNP |
| 2 | g.233767161A= | CA1335894744 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A= (p.Gln328=) c.995A= (p.Gln332=) c.989A= (p.Gln330=) c.992A= (p.Gln331=) c.188A= (p.Gln63=) | |
| 2 | g.233767161A>C | CA351072474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>C (p.Gln328Pro) c.995A>C (p.Gln332Pro) c.989A>C (p.Gln330Pro) c.992A>C (p.Gln331Pro) c.188A>C (p.Gln63Pro) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767161A>G | CA122041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>G (p.Gln328Arg) c.995A>G (p.Gln332Arg) c.989A>G (p.Gln330Arg) c.992A>G (p.Gln331Arg) c.188A>G (p.Gln63Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767161A>T | CA351072480 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>T (p.Gln328Leu) c.995A>T (p.Gln332Leu) c.989A>T (p.Gln330Leu) c.992A>T (p.Gln331Leu) c.188A>T (p.Gln63Leu) | |
| 2 | g.233767162G>A | CA431856361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>A (p.Gln328=) c.996G>A (p.Gln332=) c.990G>A (p.Gln330=) c.993G>A (p.Gln331=) c.189G>A (p.Gln63=) | |
| 2 | g.233767162G>C | CA351072481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>C (p.Gln328His) c.996G>C (p.Gln332His) c.990G>C (p.Gln330His) c.993G>C (p.Gln331His) c.189G>C (p.Gln63His) | |
| 2 | g.233767162G>T | CA351072482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>T (p.Gln328His) c.996G>T (p.Gln332His) c.990G>T (p.Gln330His) c.993G>T (p.Gln331His) c.189G>T (p.Gln63His) | |
| 2 | g.233767163A= | CA1335894745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A= (p.Thr329=) c.997A= (p.Thr333=) c.991A= (p.Thr331=) c.994A= (p.Thr332=) c.190A= (p.Thr64=) | |
| 2 | g.233767163A>C | CA351072483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>C (p.Thr329Pro) c.997A>C (p.Thr333Pro) c.991A>C (p.Thr331Pro) c.994A>C (p.Thr332Pro) c.190A>C (p.Thr64Pro) | gnomAD v4 |
| 2 | g.233767163A>G | CA351072484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>G (p.Thr329Ala) c.997A>G (p.Thr333Ala) c.991A>G (p.Thr331Ala) c.994A>G (p.Thr332Ala) c.190A>G (p.Thr64Ala) | dbSNP |
| 2 | g.233767163A>T | CA351072485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>T (p.Thr329Ser) c.997A>T (p.Thr333Ser) c.991A>T (p.Thr331Ser) c.994A>T (p.Thr332Ser) c.190A>T (p.Thr64Ser) | |
| 2 | g.233767164C>A | CA351072486 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>A (p.Thr329Lys) c.998C>A (p.Thr333Lys) c.992C>A (p.Thr331Lys) c.995C>A (p.Thr332Lys) c.191C>A (p.Thr64Lys) | |
| 2 | g.233767164C= | CA1335894746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C= (p.Thr329=) c.998C= (p.Thr333=) c.992C= (p.Thr331=) c.995C= (p.Thr332=) c.191C= (p.Thr64=) | |
| 2 | g.233767164C>G | CA351072488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>G (p.Thr329Arg) c.998C>G (p.Thr333Arg) c.992C>G (p.Thr331Arg) c.995C>G (p.Thr332Arg) c.191C>G (p.Thr64Arg) | dbSNP gnomAD v4 |
| 2 | g.233767164C>T | CA351072490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>T (p.Thr329Ile) c.998C>T (p.Thr333Ile) c.992C>T (p.Thr331Ile) c.995C>T (p.Thr332Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 |
| 2 | g.233767165A>C | CA431856376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>C (p.Thr329=) c.999A>C (p.Thr333=) c.993A>C (p.Thr331=) c.996A>C (p.Thr332=) c.192A>C (p.Thr64=) | |
| 2 | g.233767165A>G | CA431856380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>G (p.Thr329=) c.999A>G (p.Thr333=) c.993A>G (p.Thr331=) c.996A>G (p.Thr332=) c.192A>G (p.Thr64=) | gnomAD v4 |
| 2 | g.233767165A>T | CA431856374 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>T (p.Thr329=) c.999A>T (p.Thr333=) c.993A>T (p.Thr331=) c.996A>T (p.Thr332=) c.192A>T (p.Thr64=) | |
| 2 | g.233767167_233767170del | CA2573051895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2_987+5del c.999+2_999+5del c.993+2_993+5del c.996+2_996+5del c.192+2_192+5del | ClinVar dbSNP |
| 2 | g.233767166G>A | CA351072494 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>A (n.987+1G>A) c.999+1G>A (n.999+1G>A) c.993+1G>A (n.993+1G>A) c.996+1G>A (n.996+1G>A) c.192+1G>A (n.192+1G>A) | ClinVar dbSNP |
| 2 | g.233767166G>C | CA351072496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>C (n.987+1G>C) c.999+1G>C (n.999+1G>C) c.993+1G>C (n.993+1G>C) c.996+1G>C (n.996+1G>C) c.192+1G>C (n.192+1G>C) | |
| 2 | g.233767166G>T | CA351072501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>T (n.987+1G>T) c.999+1G>T (n.999+1G>T) c.993+1G>T (n.993+1G>T) c.996+1G>T (n.996+1G>T) c.192+1G>T (n.192+1G>T) | |
| 2 | g.233767167T>A | CA351072505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>A (n.987+2T>A) c.999+2T>A (n.999+2T>A) c.993+2T>A (n.993+2T>A) c.996+2T>A (n.996+2T>A) c.192+2T>A (n.192+2T>A) | |
| 2 | g.233767167T>C | CA351072506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>C (n.987+2T>C) c.999+2T>C (n.999+2T>C) c.993+2T>C (n.993+2T>C) c.996+2T>C (n.996+2T>C) c.192+2T>C (n.192+2T>C) | gnomAD v4 |
| 2 | g.233767167T>G | CA351072504 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>G (n.987+2T>G) c.999+2T>G (n.999+2T>G) c.993+2T>G (n.993+2T>G) c.996+2T>G (n.996+2T>G) c.192+2T>G (n.192+2T>G) | |
| 2 | g.233767169A>G | CA2577284407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+4A>G (n.987+4A>G) c.999+4A>G (n.999+4A>G) c.993+4A>G (n.993+4A>G) c.996+4A>G (n.996+4A>G) c.192+4A>G (n.192+4A>G) | gnomAD v4 |
| 2 | g.233767170G>A | CA2663716693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+5G>A (n.987+5G>A) c.999+5G>A (n.999+5G>A) c.993+5G>A (n.993+5G>A) c.996+5G>A (n.996+5G>A) c.192+5G>A (n.192+5G>A) | gnomAD v4 |
| 2 | g.233767170G>C | CA2586965618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+5G>C (n.987+5G>C) c.999+5G>C (n.999+5G>C) c.993+5G>C (n.993+5G>C) c.996+5G>C (n.996+5G>C) c.192+5G>C (n.192+5G>C) | |
| 2 | g.233767172A= | CA1335894747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A= (n.987+7A=) c.999+7A= (n.999+7A=) c.993+7A= (n.993+7A=) c.996+7A= (n.996+7A=) c.192+7A= (n.192+7A=) | |
| 2 | g.233767172A>C | CA2179935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A>C (n.987+7A>C) c.999+7A>C (n.999+7A>C) c.993+7A>C (n.993+7A>C) c.996+7A>C (n.996+7A>C) c.192+7A>C (n.192+7A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767172A>G | CA2179936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A>G (n.987+7A>G) c.999+7A>G (n.999+7A>G) c.993+7A>G (n.993+7A>G) c.996+7A>G (n.996+7A>G) c.192+7A>G (n.192+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767173G>T | CA2577284408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+8G>T (n.987+8G>T) c.999+8G>T (n.999+8G>T) c.993+8G>T (n.993+8G>T) c.996+8G>T (n.996+8G>T) c.192+8G>T (n.192+8G>T) | gnomAD v4 |
| 2 | g.233767174A>G | CA2577284409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+9A>G (n.987+9A>G) c.999+9A>G (n.999+9A>G) c.993+9A>G (n.993+9A>G) c.996+9A>G (n.996+9A>G) c.192+9A>G (n.192+9A>G) | gnomAD v4 |
| 2 | g.233767175T>C | CA1335894749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T>C (n.987+10T>C) c.999+10T>C (n.999+10T>C) c.993+10T>C (n.993+10T>C) c.996+10T>C (n.996+10T>C) c.192+10T>C (n.192+10T>C) | dbSNP |
| 2 | g.233767175T>G | CA766290741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T>G (n.987+10T>G) c.999+10T>G (n.999+10T>G) c.993+10T>G (n.993+10T>G) c.996+10T>G (n.996+10T>G) c.192+10T>G (n.192+10T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767175T= | CA1335894748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T= (n.987+10T=) c.999+10T= (n.999+10T=) c.993+10T= (n.993+10T=) c.996+10T= (n.996+10T=) c.192+10T= (n.192+10T=) | |
| 2 | g.233767176T>C | CA2179937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11T>C (n.987+11T>C) c.999+11T>C (n.999+11T>C) c.993+11T>C (n.993+11T>C) c.996+11T>C (n.996+11T>C) c.192+11T>C (n.192+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767176T= | CA1335894750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11T= (n.987+11T=) c.999+11T= (n.999+11T=) c.993+11T= (n.993+11T=) c.996+11T= (n.996+11T=) c.192+11T= (n.192+11T=) | |
| 2 | g.233767176_233767177delinsTC | CA1335894751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11_987+12delinsTC (n.987+11_987+12delinsTC) c.999+11_999+12delinsTC (n.999+11_999+12delinsTC) c.993+11_993+12delinsTC (n.993+11_993+12delinsTC) c.996+11_996+12delinsTC (n.996+11_996+12delinsTC) c.192+11_192+12delinsTC (n.192+11_192+12delinsTC) | |
| 2 | g.233767177del | CA1335894752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12del (n.987+12del) c.999+12del (n.999+12del) c.993+12del (n.993+12del) c.996+12del (n.996+12del) c.192+12del (n.192+12del) | dbSNP |
| 2 | g.233767177C>A | CA2754693408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C>A (n.987+12C>A) c.999+12C>A (n.999+12C>A) c.993+12C>A (n.993+12C>A) c.996+12C>A (n.996+12C>A) c.192+12C>A (n.192+12C>A) | |
| 2 | g.233767177C= | CA1335894753 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C= (n.987+12C=) c.999+12C= (n.999+12C=) c.993+12C= (n.993+12C=) c.996+12C= (n.996+12C=) c.192+12C= (n.192+12C=) | |
| 2 | g.233767177C>G | CA540072002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C>G (n.987+12C>G) c.999+12C>G (n.999+12C>G) c.993+12C>G (n.993+12C>G) c.996+12C>G (n.996+12C>G) c.192+12C>G (n.192+12C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767178T>C | CA2179938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+13T>C (n.987+13T>C) c.999+13T>C (n.999+13T>C) c.993+13T>C (n.993+13T>C) c.996+13T>C (n.996+13T>C) c.192+13T>C (n.192+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767178T= | CA1335894754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+13T= (n.987+13T=) c.999+13T= (n.999+13T=) c.993+13T= (n.993+13T=) c.996+13T= (n.996+13T=) c.192+13T= (n.192+13T=) | |
| 2 | g.233767179A= | CA1335894755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+14A= (n.987+14A=) c.999+14A= (n.999+14A=) c.993+14A= (n.993+14A=) c.996+14A= (n.996+14A=) c.192+14A= (n.192+14A=) | |
| 2 | g.233767179A>G | CA1335894756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+14A>G (n.987+14A>G) c.999+14A>G (n.999+14A>G) c.993+14A>G (n.993+14A>G) c.996+14A>G (n.996+14A>G) c.192+14A>G (n.192+14A>G) | dbSNP |
| 2 | g.233767180T>C | CA173888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+15T>C (n.987+15T>C) c.999+15T>C (n.999+15T>C) c.993+15T>C (n.993+15T>C) c.996+15T>C (n.996+15T>C) c.192+15T>C (n.192+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767180T= | CA1335894757 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+15T= (n.987+15T=) c.999+15T= (n.999+15T=) c.993+15T= (n.993+15T=) c.996+15T= (n.996+15T=) c.192+15T= (n.192+15T=) | |
| 2 | g.233767182C>T | CA2663716704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+17C>T (n.987+17C>T) c.999+17C>T (n.999+17C>T) c.993+17C>T (n.993+17C>T) c.996+17C>T (n.996+17C>T) c.192+17C>T (n.192+17C>T) | gnomAD v4 |
| 2 | g.233767183C= | CA1335894758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C= (n.987+18C=) c.999+18C= (n.999+18C=) c.993+18C= (n.993+18C=) c.996+18C= (n.996+18C=) c.192+18C= (n.192+18C=) | |
| 2 | g.233767183C>T | CA2179939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C>T (n.987+18C>T) c.999+18C>T (n.999+18C>T) c.993+18C>T (n.993+18C>T) c.996+18C>T (n.996+18C>T) c.192+18C>T (n.192+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767184A= | CA1335894759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+19A= (n.987+19A=) c.999+19A= (n.999+19A=) c.993+19A= (n.993+19A=) c.996+19A= (n.996+19A=) c.192+19A= (n.192+19A=) | |
| 2 | g.233767184A>T | CA540072006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+19A>T (n.987+19A>T) c.999+19A>T (n.999+19A>T) c.993+19A>T (n.993+19A>T) c.996+19A>T (n.996+19A>T) c.192+19A>T (n.192+19A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767185T>C | CA2754693409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+20T>C (n.987+20T>C) c.999+20T>C (n.999+20T>C) c.993+20T>C (n.993+20T>C) c.996+20T>C (n.996+20T>C) c.192+20T>C (n.192+20T>C) | |
| 2 | g.233767186G>T | CA2577284410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+21G>T (n.987+21G>T) c.999+21G>T (n.999+21G>T) c.993+21G>T (n.993+21G>T) c.996+21G>T (n.996+21G>T) c.192+21G>T (n.192+21G>T) | |
| 2 | g.233767190T>G | CA2663716708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+25T>G (n.987+25T>G) c.999+25T>G (n.999+25T>G) c.993+25T>G (n.993+25T>G) c.996+25T>G (n.996+25T>G) c.192+25T>G (n.192+25T>G) | gnomAD v4 |
| 2 | g.233767191C= | CA1335894760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+26C= (n.987+26C=) c.999+26C= (n.999+26C=) c.993+26C= (n.993+26C=) c.996+26C= (n.996+26C=) c.192+26C= (n.192+26C=) | |
| 2 | g.233767191C>T | CA540072007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+26C>T (n.987+26C>T) c.999+26C>T (n.999+26C>T) c.993+26C>T (n.993+26C>T) c.996+26C>T (n.996+26C>T) c.192+26C>T (n.192+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767192A= | CA1335894761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A= (n.987+27A=) c.999+27A= (n.999+27A=) c.993+27A= (n.993+27A=) c.996+27A= (n.996+27A=) c.192+27A= (n.192+27A=) | |
| 2 | g.233767192A>C | CA2179941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A>C (n.987+27A>C) c.999+27A>C (n.999+27A>C) c.993+27A>C (n.993+27A>C) c.996+27A>C (n.996+27A>C) c.192+27A>C (n.192+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767192A>G | CA2179940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A>G (n.987+27A>G) c.999+27A>G (n.999+27A>G) c.993+27A>G (n.993+27A>G) c.996+27A>G (n.996+27A>G) c.192+27A>G (n.192+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767193T>G | CA2179942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+28T>G (n.987+28T>G) c.999+28T>G (n.999+28T>G) c.993+28T>G (n.993+28T>G) c.996+28T>G (n.996+28T>G) c.192+28T>G (n.192+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767193T= | CA1335894762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+28T= (n.987+28T=) c.999+28T= (n.999+28T=) c.993+28T= (n.993+28T=) c.996+28T= (n.996+28T=) c.192+28T= (n.192+28T=) | |
| 2 | g.233767194A= | CA1335894763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+29A= (n.987+29A=) c.999+29A= (n.999+29A=) c.993+29A= (n.993+29A=) c.996+29A= (n.996+29A=) c.192+29A= (n.192+29A=) | |
| 2 | g.233767194A>C | CA2179943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+29A>C (n.987+29A>C) c.999+29A>C (n.999+29A>C) c.993+29A>C (n.993+29A>C) c.996+29A>C (n.996+29A>C) c.192+29A>C (n.192+29A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767195T>C | CA1335894765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+30T>C (n.987+30T>C) c.999+30T>C (n.999+30T>C) c.993+30T>C (n.993+30T>C) c.996+30T>C (n.996+30T>C) c.192+30T>C (n.192+30T>C) | dbSNP gnomAD v4 |
| 2 | g.233767195T= | CA1335894764 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+30T= (n.987+30T=) c.999+30T= (n.999+30T=) c.993+30T= (n.993+30T=) c.996+30T= (n.996+30T=) c.192+30T= (n.192+30T=) | |
| 2 | g.233767198A>G | CA2663716717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+33A>G (n.987+33A>G) c.999+33A>G (n.999+33A>G) c.993+33A>G (n.993+33A>G) c.996+33A>G (n.996+33A>G) c.192+33A>G (n.192+33A>G) | gnomAD v4 |
| 2 | g.233767199T>C | CA2663716719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+34T>C (n.987+34T>C) c.999+34T>C (n.999+34T>C) c.993+34T>C (n.993+34T>C) c.996+34T>C (n.996+34T>C) c.192+34T>C (n.192+34T>C) | dbSNP gnomAD v4 |
| 2 | g.233767201T>C | CA2179944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+36T>C (n.987+36T>C) c.999+36T>C (n.999+36T>C) c.993+36T>C (n.993+36T>C) c.996+36T>C (n.996+36T>C) c.192+36T>C (n.192+36T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767201T= | CA1335894766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+36T= (n.987+36T=) c.999+36T= (n.999+36T=) c.993+36T= (n.993+36T=) c.996+36T= (n.996+36T=) c.192+36T= (n.192+36T=) | |
| 2 | g.233767202T>G | CA2577284411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+37T>G (n.987+37T>G) c.999+37T>G (n.999+37T>G) c.993+37T>G (n.993+37T>G) c.996+37T>G (n.996+37T>G) c.192+37T>G (n.192+37T>G) | gnomAD v4 |
| 2 | g.233767203C>T | CA2663716725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+38C>T (n.987+38C>T) c.999+38C>T (n.999+38C>T) c.993+38C>T (n.993+38C>T) c.996+38C>T (n.996+38C>T) c.192+38C>T (n.192+38C>T) | gnomAD v4 |
| 2 | g.233767204A>G | CA2518291651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+39A>G (n.987+39A>G) c.999+39A>G (n.999+39A>G) c.993+39A>G (n.993+39A>G) c.996+39A>G (n.996+39A>G) c.192+39A>G (n.192+39A>G) | gnomAD v4 |
| 2 | g.233767206A>G | CA2663716729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+41A>G (n.987+41A>G) c.999+41A>G (n.999+41A>G) c.993+41A>G (n.993+41A>G) c.996+41A>G (n.996+41A>G) c.192+41A>G (n.192+41A>G) | gnomAD v4 |
| 2 | g.233767208G>A | CA1335894768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+43G>A (n.987+43G>A) c.999+43G>A (n.999+43G>A) c.993+43G>A (n.993+43G>A) c.996+43G>A (n.996+43G>A) c.192+43G>A (n.192+43G>A) | dbSNP gnomAD v4 |
| 2 | g.233767208G= | CA1335894767 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+43G= (n.987+43G=) c.999+43G= (n.999+43G=) c.993+43G= (n.993+43G=) c.996+43G= (n.996+43G=) c.192+43G= (n.192+43G=) | |
| 2 | g.233767208G>T | CA2577284412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+43G>T (n.987+43G>T) c.999+43G>T (n.999+43G>T) c.993+43G>T (n.993+43G>T) c.996+43G>T (n.996+43G>T) c.192+43G>T (n.192+43G>T) | |
| 2 | g.233767209A>G | CA2663716731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+44A>G (n.987+44A>G) c.999+44A>G (n.999+44A>G) c.993+44A>G (n.993+44A>G) c.996+44A>G (n.996+44A>G) c.192+44A>G (n.192+44A>G) | gnomAD v4 |
| 2 | g.233767210G= | CA1335894769 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+45G= (n.987+45G=) c.999+45G= (n.999+45G=) c.993+45G= (n.993+45G=) c.996+45G= (n.996+45G=) c.192+45G= (n.192+45G=) | |
| 2 | g.233767210G>T | CA1335894770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+45G>T (n.987+45G>T) c.999+45G>T (n.999+45G>T) c.993+45G>T (n.993+45G>T) c.996+45G>T (n.996+45G>T) c.192+45G>T (n.192+45G>T) | dbSNP |
| 2 | g.233767211C= | CA1335894771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+46C= (n.987+46C=) c.999+46C= (n.999+46C=) c.993+46C= (n.993+46C=) c.996+46C= (n.996+46C=) c.192+46C= (n.192+46C=) | |
| 2 | g.233767211C>T | CA2179945 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+46C>T (n.987+46C>T) c.999+46C>T (n.999+46C>T) c.993+46C>T (n.993+46C>T) c.996+46C>T (n.996+46C>T) c.192+46C>T (n.192+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767212G>A | CA2179946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+47G>A (n.987+47G>A) c.999+47G>A (n.999+47G>A) c.993+47G>A (n.993+47G>A) c.996+47G>A (n.996+47G>A) c.192+47G>A (n.192+47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767212G= | CA1335894772 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+47G= (n.987+47G=) c.999+47G= (n.999+47G=) c.993+47G= (n.993+47G=) c.996+47G= (n.996+47G=) c.192+47G= (n.192+47G=) | |
| 2 | g.233767212G>T | CA2179947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+47G>T (n.987+47G>T) c.999+47G>T (n.999+47G>T) c.993+47G>T (n.993+47G>T) c.996+47G>T (n.996+47G>T) c.192+47G>T (n.192+47G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767214T>A | CA766290779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+49T>A (n.987+49T>A) c.999+49T>A (n.999+49T>A) c.993+49T>A (n.993+49T>A) c.996+49T>A (n.996+49T>A) c.192+49T>A (n.192+49T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767214T>C | CA2532505835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+49T>C (n.987+49T>C) c.999+49T>C (n.999+49T>C) c.993+49T>C (n.993+49T>C) c.996+49T>C (n.996+49T>C) c.192+49T>C (n.192+49T>C) | |
| 2 | g.233767214T= | CA1335894773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+49T= (n.987+49T=) c.999+49T= (n.999+49T=) c.993+49T= (n.993+49T=) c.996+49T= (n.996+49T=) c.192+49T= (n.192+49T=) | |
| 2 | g.233767218C>A | CA2663716749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+53C>A (n.987+53C>A) c.999+53C>A (n.999+53C>A) c.993+53C>A (n.993+53C>A) c.996+53C>A (n.996+53C>A) c.192+53C>A (n.192+53C>A) | gnomAD v4 |
| 2 | g.233767218C= | CA1335894774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+53C= (n.987+53C=) c.999+53C= (n.999+53C=) c.993+53C= (n.993+53C=) c.996+53C= (n.996+53C=) c.192+53C= (n.192+53C=) | |
| 2 | g.233767218C>T | CA1335894775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+53C>T (n.987+53C>T) c.999+53C>T (n.999+53C>T) c.993+53C>T (n.993+53C>T) c.996+53C>T (n.996+53C>T) c.192+53C>T (n.192+53C>T) | dbSNP gnomAD v4 |
| 2 | g.233767220C>A | CA2577284413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+55C>A (n.987+55C>A) c.999+55C>A (n.999+55C>A) c.993+55C>A (n.993+55C>A) c.996+55C>A (n.996+55C>A) c.192+55C>A (n.192+55C>A) | |
| 2 | g.233767220C= | CA1335894776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+55C= (n.987+55C=) c.999+55C= (n.999+55C=) c.993+55C= (n.993+55C=) c.996+55C= (n.996+55C=) c.192+55C= (n.192+55C=) | |
| 2 | g.233767220C>G | CA766290780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+55C>G (n.987+55C>G) c.999+55C>G (n.999+55C>G) c.993+55C>G (n.993+55C>G) c.996+55C>G (n.996+55C>G) c.192+55C>G (n.192+55C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767220C>T | CA2663716750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+55C>T (n.987+55C>T) c.999+55C>T (n.999+55C>T) c.993+55C>T (n.993+55C>T) c.996+55C>T (n.996+55C>T) c.192+55C>T (n.192+55C>T) | gnomAD v4 |
| 2 | g.233767221A>G | CA2577284414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+56A>G (n.987+56A>G) c.999+56A>G (n.999+56A>G) c.993+56A>G (n.993+56A>G) c.996+56A>G (n.996+56A>G) c.192+56A>G (n.192+56A>G) | |
| 2 | g.233767223A= | CA1335894777 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+58A= (n.987+58A=) c.999+58A= (n.999+58A=) c.993+58A= (n.993+58A=) c.996+58A= (n.996+58A=) c.192+58A= (n.192+58A=) | |
| 2 | g.233767223A>G | CA1043557732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+58A>G (n.987+58A>G) c.999+58A>G (n.999+58A>G) c.993+58A>G (n.993+58A>G) c.996+58A>G (n.996+58A>G) c.192+58A>G (n.192+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767224C= | CA1335894778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+59C= (n.987+59C=) c.999+59C= (n.999+59C=) c.993+59C= (n.993+59C=) c.996+59C= (n.996+59C=) c.192+59C= (n.192+59C=) | |
| 2 | g.233767224C>G | CA1043557733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+59C>G (n.987+59C>G) c.999+59C>G (n.999+59C>G) c.993+59C>G (n.993+59C>G) c.996+59C>G (n.996+59C>G) c.192+59C>G (n.192+59C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767227C>G | CA2577284415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+62C>G (n.987+62C>G) c.999+62C>G (n.999+62C>G) c.993+62C>G (n.993+62C>G) c.996+62C>G (n.996+62C>G) c.192+62C>G (n.192+62C>G) | |
| 2 | g.233767228C= | CA1335894780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+63C= (n.987+63C=) c.999+63C= (n.999+63C=) c.993+63C= (n.993+63C=) c.996+63C= (n.996+63C=) c.192+63C= (n.192+63C=) | |
| 2 | g.233767228C>T | CA1335894779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+63C>T (n.987+63C>T) c.999+63C>T (n.999+63C>T) c.993+63C>T (n.993+63C>T) c.996+63C>T (n.996+63C>T) c.192+63C>T (n.192+63C>T) | dbSNP |
| 2 | g.233767229A= | CA1335894781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+64A= (n.987+64A=) c.999+64A= (n.999+64A=) c.993+64A= (n.993+64A=) c.996+64A= (n.996+64A=) c.192+64A= (n.192+64A=) | |
| 2 | g.233767229A>T | CA1043557735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+64A>T (n.987+64A>T) c.999+64A>T (n.999+64A>T) c.993+64A>T (n.993+64A>T) c.996+64A>T (n.996+64A>T) c.192+64A>T (n.192+64A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767230G>A | CA2663716754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+65G>A (n.987+65G>A) c.999+65G>A (n.999+65G>A) c.993+65G>A (n.993+65G>A) c.996+65G>A (n.996+65G>A) c.192+65G>A (n.192+65G>A) | gnomAD v4 |
| 2 | g.233767230G>C | CA2663716756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+65G>C (n.987+65G>C) c.999+65G>C (n.999+65G>C) c.993+65G>C (n.993+65G>C) c.996+65G>C (n.996+65G>C) c.192+65G>C (n.192+65G>C) | gnomAD v4 |
| 2 | g.233767231C>A | CA2513788871 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+66C>A (n.987+66C>A) c.999+66C>A (n.999+66C>A) c.993+66C>A (n.993+66C>A) c.996+66C>A (n.996+66C>A) c.192+66C>A (n.192+66C>A) | gnomAD v4 |
| 2 | g.233767232T>C | CA2577284416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+67T>C (n.987+67T>C) c.999+67T>C (n.999+67T>C) c.993+67T>C (n.993+67T>C) c.996+67T>C (n.996+67T>C) c.192+67T>C (n.192+67T>C) | |
| 2 | g.233767234C>T | CA2663716759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+69C>T (n.987+69C>T) c.999+69C>T (n.999+69C>T) c.993+69C>T (n.993+69C>T) c.996+69C>T (n.996+69C>T) c.192+69C>T (n.192+69C>T) | gnomAD v4 |
| 2 | g.233767237G>A | CA2754693410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+72G>A (n.987+72G>A) c.999+72G>A (n.999+72G>A) c.993+72G>A (n.993+72G>A) c.996+72G>A (n.996+72G>A) c.192+72G>A (n.192+72G>A) | |
| 2 | g.233767237G>T | CA2663716760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+72G>T (n.987+72G>T) c.999+72G>T (n.999+72G>T) c.993+72G>T (n.993+72G>T) c.996+72G>T (n.996+72G>T) c.192+72G>T (n.192+72G>T) | gnomAD v4 |
| 2 | g.233767238A>G | CA2577284417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+73A>G (n.987+73A>G) c.999+73A>G (n.999+73A>G) c.993+73A>G (n.993+73A>G) c.996+73A>G (n.996+73A>G) c.192+73A>G (n.192+73A>G) | |
| 2 | g.233767239T>C | CA2754693411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+74T>C (n.987+74T>C) c.999+74T>C (n.999+74T>C) c.993+74T>C (n.993+74T>C) c.996+74T>C (n.996+74T>C) c.192+74T>C (n.192+74T>C) | |
| 2 | g.233767240del | CA2663716762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+75del (n.987+75del) c.999+75del (n.999+75del) c.993+75del (n.993+75del) c.996+75del (n.996+75del) c.192+75del (n.192+75del) | gnomAD v4 |
| 2 | g.233767242A= | CA1335894782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+77A= (n.987+77A=) c.999+77A= (n.999+77A=) c.993+77A= (n.993+77A=) c.996+77A= (n.996+77A=) c.192+77A= (n.192+77A=) | |
| 2 | g.233767242A>G | CA2663716764 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+77A>G (n.987+77A>G) c.999+77A>G (n.999+77A>G) c.993+77A>G (n.993+77A>G) c.996+77A>G (n.996+77A>G) c.192+77A>G (n.192+77A>G) | gnomAD v4 |
| 2 | g.233767242A>T | CA766290781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+77A>T (n.987+77A>T) c.999+77A>T (n.999+77A>T) c.993+77A>T (n.993+77A>T) c.996+77A>T (n.996+77A>T) c.192+77A>T (n.192+77A>T) | dbSNP |
| 2 | g.233767244T>A | CA2577284418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+79T>A (n.987+79T>A) c.999+79T>A (n.999+79T>A) c.993+79T>A (n.993+79T>A) c.996+79T>A (n.996+79T>A) c.192+79T>A (n.192+79T>A) | gnomAD v4 |
| 2 | g.233767245C>A | CA1335894784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+80C>A (n.987+80C>A) c.999+80C>A (n.999+80C>A) c.993+80C>A (n.993+80C>A) c.996+80C>A (n.996+80C>A) c.192+80C>A (n.192+80C>A) | dbSNP |
| 2 | g.233767245C= | CA1335894783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+80C= (n.987+80C=) c.999+80C= (n.999+80C=) c.993+80C= (n.993+80C=) c.996+80C= (n.996+80C=) c.192+80C= (n.192+80C=) | |
| 2 | g.233767247C= | CA1335894785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+82C= (n.987+82C=) c.999+82C= (n.999+82C=) c.993+82C= (n.993+82C=) c.996+82C= (n.996+82C=) c.192+82C= (n.192+82C=) | |
| 2 | g.233767247C>T | CA1043557748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+82C>T (n.987+82C>T) c.999+82C>T (n.999+82C>T) c.993+82C>T (n.993+82C>T) c.996+82C>T (n.996+82C>T) c.192+82C>T (n.192+82C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767249T>C | CA2663716770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+84T>C (n.987+84T>C) c.999+84T>C (n.999+84T>C) c.993+84T>C (n.993+84T>C) c.996+84T>C (n.996+84T>C) c.192+84T>C (n.192+84T>C) | gnomAD v4 |
| 2 | g.233767250A>T | CA2663716772 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+85A>T (n.987+85A>T) c.999+85A>T (n.999+85A>T) c.993+85A>T (n.993+85A>T) c.996+85A>T (n.996+85A>T) c.192+85A>T (n.192+85A>T) | gnomAD v4 |
| 2 | g.233767251A>T | CA2663716774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+86A>T (n.987+86A>T) c.999+86A>T (n.999+86A>T) c.993+86A>T (n.993+86A>T) c.996+86A>T (n.996+86A>T) c.192+86A>T (n.192+86A>T) | gnomAD v4 |
| 2 | g.233767252T>C | CA67595255 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+87T>C (n.987+87T>C) c.999+87T>C (n.999+87T>C) c.993+87T>C (n.993+87T>C) c.996+87T>C (n.996+87T>C) c.192+87T>C (n.192+87T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767252T= | CA1335894786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+87T= (n.987+87T=) c.999+87T= (n.999+87T=) c.993+87T= (n.993+87T=) c.996+87T= (n.996+87T=) c.192+87T= (n.192+87T=) | |
| 2 | g.233767254G>A | CA67595271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+89G>A (n.987+89G>A) c.999+89G>A (n.999+89G>A) c.993+89G>A (n.993+89G>A) c.996+89G>A (n.996+89G>A) c.192+89G>A (n.192+89G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767254G= | CA1335894787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+89G= (n.987+89G=) c.999+89G= (n.999+89G=) c.993+89G= (n.993+89G=) c.996+89G= (n.996+89G=) c.192+89G= (n.192+89G=) | |
| 2 | g.233767254_233767259del | CA2663716778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+89_987+94del (n.987+89_987+94del) c.999+89_999+94del (n.999+89_999+94del) c.993+89_993+94del (n.993+89_993+94del) c.996+89_996+94del (n.996+89_996+94del) c.192+89_192+94del (n.192+89_192+94del) | gnomAD v4 |
| 2 | g.233767255G>A | CA2701894137 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+90G>A (n.987+90G>A) c.999+90G>A (n.999+90G>A) c.993+90G>A (n.993+90G>A) c.996+90G>A (n.996+90G>A) c.192+90G>A (n.192+90G>A) | dbSNP |
| 2 | g.233767255G>C | CA2663716781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+90G>C (n.987+90G>C) c.999+90G>C (n.999+90G>C) c.993+90G>C (n.993+90G>C) c.996+90G>C (n.996+90G>C) c.192+90G>C (n.192+90G>C) | gnomAD v4 |
| 2 | g.233767255G>T | CA2663716782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+90G>T (n.987+90G>T) c.999+90G>T (n.999+90G>T) c.993+90G>T (n.993+90G>T) c.996+90G>T (n.996+90G>T) c.192+90G>T (n.192+90G>T) | gnomAD v4 |
| 2 | g.233767257A= | CA1335894788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+92A= (n.987+92A=) c.999+92A= (n.999+92A=) c.993+92A= (n.993+92A=) c.996+92A= (n.996+92A=) c.192+92A= (n.192+92A=) | |
| 2 | g.233767257A>C | CA1335894789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+92A>C (n.987+92A>C) c.999+92A>C (n.999+92A>C) c.993+92A>C (n.993+92A>C) c.996+92A>C (n.996+92A>C) c.192+92A>C (n.192+92A>C) | dbSNP |
| 2 | g.233767258C>A | CA2663716785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+93C>A (n.987+93C>A) c.999+93C>A (n.999+93C>A) c.993+93C>A (n.993+93C>A) c.996+93C>A (n.996+93C>A) c.192+93C>A (n.192+93C>A) | gnomAD v4 |
| 2 | g.233767258C= | CA1335894790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+93C= (n.987+93C=) c.999+93C= (n.999+93C=) c.993+93C= (n.993+93C=) c.996+93C= (n.996+93C=) c.192+93C= (n.192+93C=) | |
| 2 | g.233767258C>T | CA540072011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+93C>T (n.987+93C>T) c.999+93C>T (n.999+93C>T) c.993+93C>T (n.993+93C>T) c.996+93C>T (n.996+93C>T) c.192+93C>T (n.192+93C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767259C>T | CA2663716789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+94C>T (n.987+94C>T) c.999+94C>T (n.999+94C>T) c.993+94C>T (n.993+94C>T) c.996+94C>T (n.996+94C>T) c.192+94C>T (n.192+94C>T) | gnomAD v4 |