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.233766960A= | CA1335894654 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-74A= (n.856-74A=) c.868-74A= (n.868-74A=) c.862-74A= (n.862-74A=) c.865-74A= (n.865-74A=) c.61-74A= (n.61-74A=) c.442-74A= (n.442-74A=) | |
| 2 | g.233766960A>G | CA2577284390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-74A>G (n.856-74A>G) c.868-74A>G (n.868-74A>G) c.862-74A>G (n.862-74A>G) c.865-74A>G (n.865-74A>G) c.61-74A>G (n.61-74A>G) c.442-74A>G (n.442-74A>G) | |
| 2 | g.233766960A>T | CA1043557668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-74A>T (n.856-74A>T) c.868-74A>T (n.868-74A>T) c.862-74A>T (n.862-74A>T) c.865-74A>T (n.865-74A>T) c.61-74A>T (n.61-74A>T) c.442-74A>T (n.442-74A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233766961T>C | CA1335894656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-73T>C (n.856-73T>C) c.868-73T>C (n.868-73T>C) c.862-73T>C (n.862-73T>C) c.865-73T>C (n.865-73T>C) c.61-73T>C (n.61-73T>C) c.442-73T>C (n.442-73T>C) | dbSNP |
| 2 | g.233766961T= | CA1335894655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-73T= (n.856-73T=) c.868-73T= (n.868-73T=) c.862-73T= (n.862-73T=) c.865-73T= (n.865-73T=) c.61-73T= (n.61-73T=) c.442-73T= (n.442-73T=) | |
| 2 | g.233766962T>G | CA1335894658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-72T>G (n.856-72T>G) c.868-72T>G (n.868-72T>G) c.862-72T>G (n.862-72T>G) c.865-72T>G (n.865-72T>G) c.61-72T>G (n.61-72T>G) c.442-72T>G (n.442-72T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233766962T= | CA1335894657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-72T= (n.856-72T=) c.868-72T= (n.868-72T=) c.862-72T= (n.862-72T=) c.865-72T= (n.865-72T=) c.61-72T= (n.61-72T=) c.442-72T= (n.442-72T=) | |
| 2 | g.233766963C= | CA1335894659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-71C= (n.856-71C=) c.868-71C= (n.868-71C=) c.862-71C= (n.862-71C=) c.865-71C= (n.865-71C=) c.61-71C= (n.61-71C=) c.442-71C= (n.442-71C=) | |
| 2 | g.233766963C>T | CA766269901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-71C>T (n.856-71C>T) c.868-71C>T (n.868-71C>T) c.862-71C>T (n.862-71C>T) c.865-71C>T (n.865-71C>T) c.61-71C>T (n.61-71C>T) c.442-71C>T (n.442-71C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233766965T>A | CA2663716482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-69T>A (n.856-69T>A) c.868-69T>A (n.868-69T>A) c.862-69T>A (n.862-69T>A) c.865-69T>A (n.865-69T>A) c.61-69T>A (n.61-69T>A) c.442-69T>A (n.442-69T>A) | gnomAD v4 |
| 2 | g.233766965T>C | CA2663716481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-69T>C (n.856-69T>C) c.868-69T>C (n.868-69T>C) c.862-69T>C (n.862-69T>C) c.865-69T>C (n.865-69T>C) c.61-69T>C (n.61-69T>C) c.442-69T>C (n.442-69T>C) | gnomAD v4 |
| 2 | g.233766967A= | CA1335894660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-67A= (n.856-67A=) c.868-67A= (n.868-67A=) c.862-67A= (n.862-67A=) c.865-67A= (n.865-67A=) c.61-67A= (n.61-67A=) c.442-67A= (n.442-67A=) | |
| 2 | g.233766967A>G | CA67595008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-67A>G (n.856-67A>G) c.868-67A>G (n.868-67A>G) c.862-67A>G (n.862-67A>G) c.865-67A>G (n.865-67A>G) c.61-67A>G (n.61-67A>G) c.442-67A>G (n.442-67A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233766968C>G | CA2577284391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-66C>G (n.856-66C>G) c.868-66C>G (n.868-66C>G) c.862-66C>G (n.862-66C>G) c.865-66C>G (n.865-66C>G) c.61-66C>G (n.61-66C>G) c.442-66C>G (n.442-66C>G) | gnomAD v4 |
| 2 | g.233766971A= | CA1335894661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-63A= (n.856-63A=) c.868-63A= (n.868-63A=) c.862-63A= (n.862-63A=) c.865-63A= (n.865-63A=) c.61-63A= (n.61-63A=) c.442-63A= (n.442-63A=) | |
| 2 | g.233766971A>G | CA67595015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-63A>G (n.856-63A>G) c.868-63A>G (n.868-63A>G) c.862-63A>G (n.862-63A>G) c.865-63A>G (n.865-63A>G) c.61-63A>G (n.61-63A>G) c.442-63A>G (n.442-63A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233766971_233766974del | CA2577284392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-63_856-60del (n.856-63_856-60del) c.868-63_868-60del (n.868-63_868-60del) c.862-63_862-60del (n.862-63_862-60del) c.865-63_865-60del (n.865-63_865-60del) c.61-63_61-60del (n.61-63_61-60del) c.442-63_442-60del (n.442-63_442-60del) | gnomAD v4 |
| 2 | g.233766972C>T | CA2577284393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-62C>T (n.856-62C>T) c.868-62C>T (n.868-62C>T) c.862-62C>T (n.862-62C>T) c.865-62C>T (n.865-62C>T) c.61-62C>T (n.61-62C>T) c.442-62C>T (n.442-62C>T) | gnomAD v4 |
| 2 | g.233766973del | CA2663716483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-61del (n.856-61del) c.868-61del (n.868-61del) c.862-61del (n.862-61del) c.865-61del (n.865-61del) c.61-61del (n.61-61del) c.442-61del (n.442-61del) | gnomAD v4 |
| 2 | g.233766973T>C | CA2754693406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-61T>C (n.856-61T>C) c.868-61T>C (n.868-61T>C) c.862-61T>C (n.862-61T>C) c.865-61T>C (n.865-61T>C) c.61-61T>C (n.61-61T>C) c.442-61T>C (n.442-61T>C) | |
| 2 | g.233766974G>A | CA67595019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-60G>A (n.856-60G>A) c.868-60G>A (n.868-60G>A) c.862-60G>A (n.862-60G>A) c.865-60G>A (n.865-60G>A) c.61-60G>A (n.61-60G>A) c.442-60G>A (n.442-60G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233766974G= | CA1335894662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-60G= (n.856-60G=) c.868-60G= (n.868-60G=) c.862-60G= (n.862-60G=) c.865-60G= (n.865-60G=) c.61-60G= (n.61-60G=) c.442-60G= (n.442-60G=) | |
| 2 | g.233766975T>C | CA540071975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-59T>C (n.856-59T>C) c.868-59T>C (n.868-59T>C) c.862-59T>C (n.862-59T>C) c.865-59T>C (n.865-59T>C) c.61-59T>C (n.61-59T>C) c.442-59T>C (n.442-59T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233766975T= | CA1335894663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-59T= (n.856-59T=) c.868-59T= (n.868-59T=) c.862-59T= (n.862-59T=) c.865-59T= (n.865-59T=) c.61-59T= (n.61-59T=) c.442-59T= (n.442-59T=) | |
| 2 | g.233766977T>C | CA2577284394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-57T>C (n.856-57T>C) c.868-57T>C (n.868-57T>C) c.862-57T>C (n.862-57T>C) c.865-57T>C (n.865-57T>C) c.61-57T>C (n.61-57T>C) c.442-57T>C (n.442-57T>C) | gnomAD v4 |
| 2 | g.233766977T>G | CA1335894665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-57T>G (n.856-57T>G) c.868-57T>G (n.868-57T>G) c.862-57T>G (n.862-57T>G) c.865-57T>G (n.865-57T>G) c.61-57T>G (n.61-57T>G) c.442-57T>G (n.442-57T>G) | dbSNP |
| 2 | g.233766977T= | CA1335894664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-57T= (n.856-57T=) c.868-57T= (n.868-57T=) c.862-57T= (n.862-57T=) c.865-57T= (n.865-57T=) c.61-57T= (n.61-57T=) c.442-57T= (n.442-57T=) | |
| 2 | g.233766979T>C | CA2663716484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-55T>C (n.856-55T>C) c.868-55T>C (n.868-55T>C) c.862-55T>C (n.862-55T>C) c.865-55T>C (n.865-55T>C) c.61-55T>C (n.61-55T>C) c.442-55T>C (n.442-55T>C) | gnomAD v4 |
| 2 | g.233766980A= | CA1335894666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-54A= (n.856-54A=) c.868-54A= (n.868-54A=) c.862-54A= (n.862-54A=) c.865-54A= (n.865-54A=) c.61-54A= (n.61-54A=) c.442-54A= (n.442-54A=) | |
| 2 | g.233766980A>G | CA1335894667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-54A>G (n.856-54A>G) c.868-54A>G (n.868-54A>G) c.862-54A>G (n.862-54A>G) c.865-54A>G (n.865-54A>G) c.61-54A>G (n.61-54A>G) c.442-54A>G (n.442-54A>G) | dbSNP gnomAD v4 |
| 2 | g.233766981G>A | CA2663716485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-53G>A (n.856-53G>A) c.868-53G>A (n.868-53G>A) c.862-53G>A (n.862-53G>A) c.865-53G>A (n.865-53G>A) c.61-53G>A (n.61-53G>A) c.442-53G>A (n.442-53G>A) | gnomAD v4 |
| 2 | g.233766981G>C | CA1335894669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-53G>C (n.856-53G>C) c.868-53G>C (n.868-53G>C) c.862-53G>C (n.862-53G>C) c.865-53G>C (n.865-53G>C) c.61-53G>C (n.61-53G>C) c.442-53G>C (n.442-53G>C) | dbSNP gnomAD v4 |
| 2 | g.233766981G= | CA1335894668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-53G= (n.856-53G=) c.868-53G= (n.868-53G=) c.862-53G= (n.862-53G=) c.865-53G= (n.865-53G=) c.61-53G= (n.61-53G=) c.442-53G= (n.442-53G=) | |
| 2 | g.233766982T>C | CA1335894671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-52T>C (n.856-52T>C) c.868-52T>C (n.868-52T>C) c.862-52T>C (n.862-52T>C) c.865-52T>C (n.865-52T>C) c.61-52T>C (n.61-52T>C) c.442-52T>C (n.442-52T>C) | dbSNP gnomAD v4 |
| 2 | g.233766982T= | CA1335894670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-52T= (n.856-52T=) c.868-52T= (n.868-52T=) c.862-52T= (n.862-52T=) c.865-52T= (n.865-52T=) c.61-52T= (n.61-52T=) c.442-52T= (n.442-52T=) | |
| 2 | g.233766983C= | CA1335894672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-51C= (n.856-51C=) c.868-51C= (n.868-51C=) c.862-51C= (n.862-51C=) c.865-51C= (n.865-51C=) c.61-51C= (n.61-51C=) c.442-51C= (n.442-51C=) | |
| 2 | g.233766983C>T | CA67595020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-51C>T (n.856-51C>T) c.868-51C>T (n.868-51C>T) c.862-51C>T (n.862-51C>T) c.865-51C>T (n.865-51C>T) c.61-51C>T (n.61-51C>T) c.442-51C>T (n.442-51C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233766987A>G | CA2663716486 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-47A>G (n.856-47A>G) c.868-47A>G (n.868-47A>G) c.862-47A>G (n.862-47A>G) c.865-47A>G (n.865-47A>G) c.61-47A>G (n.61-47A>G) c.442-47A>G (n.442-47A>G) | gnomAD v4 |
| 2 | g.233766990G>T | CA2663716487 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-44G>T (n.856-44G>T) c.868-44G>T (n.868-44G>T) c.862-44G>T (n.862-44G>T) c.865-44G>T (n.865-44G>T) c.61-44G>T (n.61-44G>T) c.442-44G>T (n.442-44G>T) | gnomAD v4 |
| 2 | g.233766991A= | CA1335894673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-43A= (n.856-43A=) c.868-43A= (n.868-43A=) c.862-43A= (n.862-43A=) c.865-43A= (n.865-43A=) c.61-43A= (n.61-43A=) c.442-43A= (n.442-43A=) | |
| 2 | g.233766991A>T | CA67595025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-43A>T (n.856-43A>T) c.868-43A>T (n.868-43A>T) c.862-43A>T (n.862-43A>T) c.865-43A>T (n.865-43A>T) c.61-43A>T (n.61-43A>T) c.442-43A>T (n.442-43A>T) | dbSNP |
| 2 | g.233766992del | CA2577284395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-42del (n.856-42del) c.868-42del (n.868-42del) c.862-42del (n.862-42del) c.865-42del (n.865-42del) c.61-42del (n.61-42del) c.442-42del (n.442-42del) | |
| 2 | g.233766993T>C | CA2663716488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-41T>C (n.856-41T>C) c.868-41T>C (n.868-41T>C) c.862-41T>C (n.862-41T>C) c.865-41T>C (n.865-41T>C) c.61-41T>C (n.61-41T>C) c.442-41T>C (n.442-41T>C) | gnomAD v4 |
| 2 | g.233766994A>G | CA2577284396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-40A>G (n.856-40A>G) c.868-40A>G (n.868-40A>G) c.862-40A>G (n.862-40A>G) c.865-40A>G (n.865-40A>G) c.61-40A>G (n.61-40A>G) c.442-40A>G (n.442-40A>G) | |
| 2 | g.233766995T>C | CA2663716490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-39T>C (n.856-39T>C) c.868-39T>C (n.868-39T>C) c.862-39T>C (n.862-39T>C) c.865-39T>C (n.865-39T>C) c.61-39T>C (n.61-39T>C) c.442-39T>C (n.442-39T>C) | gnomAD v4 |
| 2 | g.233767004del | CA2577284397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-30del (n.856-30del) c.868-30del (n.868-30del) c.862-30del (n.862-30del) c.865-30del (n.865-30del) c.61-30del (n.61-30del) c.442-30del (n.442-30del) | gnomAD v4 |
| 2 | g.233767000A= | CA1335894674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-34A= (n.856-34A=) c.868-34A= (n.868-34A=) c.862-34A= (n.862-34A=) c.865-34A= (n.865-34A=) c.61-34A= (n.61-34A=) c.442-34A= (n.442-34A=) | |
| 2 | g.233767000A>C | CA2179915 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-34A>C (n.856-34A>C) c.868-34A>C (n.868-34A>C) c.862-34A>C (n.862-34A>C) c.865-34A>C (n.865-34A>C) c.61-34A>C (n.61-34A>C) c.442-34A>C (n.442-34A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767000A>G | CA2663716494 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-34A>G (n.856-34A>G) c.868-34A>G (n.868-34A>G) c.862-34A>G (n.862-34A>G) c.865-34A>G (n.865-34A>G) c.61-34A>G (n.61-34A>G) c.442-34A>G (n.442-34A>G) | gnomAD v4 |
| 2 | g.233767001A>G | CA2607617184 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-33A>G (n.856-33A>G) c.868-33A>G (n.868-33A>G) c.862-33A>G (n.862-33A>G) c.865-33A>G (n.865-33A>G) c.61-33A>G (n.61-33A>G) c.442-33A>G (n.442-33A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767002A>C | CA2541303759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-32A>C (n.856-32A>C) c.868-32A>C (n.868-32A>C) c.862-32A>C (n.862-32A>C) c.865-32A>C (n.865-32A>C) c.61-32A>C (n.61-32A>C) c.442-32A>C (n.442-32A>C) | gnomAD v4 |
| 2 | g.233767005T>A | CA2663716497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-29T>A (n.856-29T>A) c.868-29T>A (n.868-29T>A) c.862-29T>A (n.862-29T>A) c.865-29T>A (n.865-29T>A) c.61-29T>A (n.61-29T>A) c.442-29T>A (n.442-29T>A) | gnomAD v4 |
| 2 | g.233767005T>C | CA2663716499 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-29T>C (n.856-29T>C) c.868-29T>C (n.868-29T>C) c.862-29T>C (n.862-29T>C) c.865-29T>C (n.865-29T>C) c.61-29T>C (n.61-29T>C) c.442-29T>C (n.442-29T>C) | gnomAD v4 |
| 2 | g.233767005_233767009delinsTTAAC | CA1335894675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-29_856-25delinsTTAAC (n.856-29_856-25delinsTTAAC) c.868-29_868-25delinsTTAAC (n.868-29_868-25delinsTTAAC) c.862-29_862-25delinsTTAAC (n.862-29_862-25delinsTTAAC) c.865-29_865-25delinsTTAAC (n.865-29_865-25delinsTTAAC) c.61-29_61-25delinsTTAAC (n.61-29_61-25delinsTTAAC) c.442-29_442-25delinsTTAAC (n.442-29_442-25delinsTTAAC) | |
| 2 | g.233767007_233767010del | CA2179916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-27_856-24del (n.856-27_856-24del) c.868-27_868-24del (n.868-27_868-24del) c.862-27_862-24del (n.862-27_862-24del) c.865-27_865-24del (n.865-27_865-24del) c.61-27_61-24del (n.61-27_61-24del) c.442-27_442-24del (n.442-27_442-24del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767007A>T | CA2663716501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-27A>T (n.856-27A>T) c.868-27A>T (n.868-27A>T) c.862-27A>T (n.862-27A>T) c.865-27A>T (n.865-27A>T) c.61-27A>T (n.61-27A>T) c.442-27A>T (n.442-27A>T) | gnomAD v4 |
| 2 | g.233767008A= | CA1335894676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-26A= (n.856-26A=) c.868-26A= (n.868-26A=) c.862-26A= (n.862-26A=) c.865-26A= (n.865-26A=) c.61-26A= (n.61-26A=) c.442-26A= (n.442-26A=) | |
| 2 | g.233767008A>C | CA67595028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-26A>C (n.856-26A>C) c.868-26A>C (n.868-26A>C) c.862-26A>C (n.862-26A>C) c.865-26A>C (n.865-26A>C) c.61-26A>C (n.61-26A>C) c.442-26A>C (n.442-26A>C) | dbSNP |
| 2 | g.233767010T>A | CA1335894678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-24T>A (n.856-24T>A) c.868-24T>A (n.868-24T>A) c.862-24T>A (n.862-24T>A) c.865-24T>A (n.865-24T>A) c.61-24T>A (n.61-24T>A) c.442-24T>A (n.442-24T>A) | dbSNP |
| 2 | g.233767010T= | CA1335894677 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-24T= (n.856-24T=) c.868-24T= (n.868-24T=) c.862-24T= (n.862-24T=) c.865-24T= (n.865-24T=) c.61-24T= (n.61-24T=) c.442-24T= (n.442-24T=) | |
| 2 | g.233767013A>C | CA2663716502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-21A>C (n.856-21A>C) c.868-21A>C (n.868-21A>C) c.862-21A>C (n.862-21A>C) c.865-21A>C (n.865-21A>C) c.61-21A>C (n.61-21A>C) c.442-21A>C (n.442-21A>C) | gnomAD v4 |
| 2 | g.233767014A= | CA1335894679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-20A= (n.856-20A=) c.868-20A= (n.868-20A=) c.862-20A= (n.862-20A=) c.865-20A= (n.865-20A=) c.61-20A= (n.61-20A=) c.442-20A= (n.442-20A=) | |
| 2 | g.233767014A>C | CA540071979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-20A>C (n.856-20A>C) c.868-20A>C (n.868-20A>C) c.862-20A>C (n.862-20A>C) c.865-20A>C (n.865-20A>C) c.61-20A>C (n.61-20A>C) c.442-20A>C (n.442-20A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767015A= | CA1335894682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A= (n.856-19A=) c.868-19A= (n.868-19A=) c.862-19A= (n.862-19A=) c.865-19A= (n.865-19A=) c.61-19A= (n.61-19A=) c.442-19A= (n.442-19A=) | |
| 2 | g.233767015A>G | CA1335894681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A>G (n.856-19A>G) c.868-19A>G (n.868-19A>G) c.862-19A>G (n.862-19A>G) c.865-19A>G (n.865-19A>G) c.61-19A>G (n.61-19A>G) c.442-19A>G (n.442-19A>G) | dbSNP gnomAD v4 |
| 2 | g.233767015A>T | CA1335894680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A>T (n.856-19A>T) c.868-19A>T (n.868-19A>T) c.862-19A>T (n.862-19A>T) c.865-19A>T (n.865-19A>T) c.61-19A>T (n.61-19A>T) c.442-19A>T (n.442-19A>T) | dbSNP |
| 2 | g.233767016T>A | CA2179917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-18T>A (n.856-18T>A) c.868-18T>A (n.868-18T>A) c.862-18T>A (n.862-18T>A) c.865-18T>A (n.865-18T>A) c.61-18T>A (n.61-18T>A) c.442-18T>A (n.442-18T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767016T= | CA1335894683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-18T= (n.856-18T=) c.868-18T= (n.868-18T=) c.862-18T= (n.862-18T=) c.865-18T= (n.865-18T=) c.61-18T= (n.61-18T=) c.442-18T= (n.442-18T=) | |
| 2 | g.233767017T>G | CA2179918 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-17T>G (n.856-17T>G) c.868-17T>G (n.868-17T>G) c.862-17T>G (n.862-17T>G) c.865-17T>G (n.865-17T>G) c.61-17T>G (n.61-17T>G) c.442-17T>G (n.442-17T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767017T= | CA1335894684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-17T= (n.856-17T=) c.868-17T= (n.868-17T=) c.862-17T= (n.862-17T=) c.865-17T= (n.865-17T=) c.61-17T= (n.61-17T=) c.442-17T= (n.442-17T=) | |
| 2 | g.233767018T>G | CA1335894686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-16T>G (n.856-16T>G) c.868-16T>G (n.868-16T>G) c.862-16T>G (n.862-16T>G) c.865-16T>G (n.865-16T>G) c.61-16T>G (n.61-16T>G) c.442-16T>G (n.442-16T>G) | dbSNP gnomAD v4 |
| 2 | g.233767018T= | CA1335894685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-16T= (n.856-16T=) c.868-16T= (n.868-16T=) c.862-16T= (n.862-16T=) c.865-16T= (n.865-16T=) c.61-16T= (n.61-16T=) c.442-16T= (n.442-16T=) | |
| 2 | g.233767019T>G | CA2754693407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-15T>G (n.856-15T>G) c.868-15T>G (n.868-15T>G) c.862-15T>G (n.862-15T>G) c.865-15T>G (n.865-15T>G) c.61-15T>G (n.61-15T>G) c.442-15T>G (n.442-15T>G) | |
| 2 | g.233767022T>G | CA540071980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-12T>G (n.856-12T>G) c.868-12T>G (n.868-12T>G) c.862-12T>G (n.862-12T>G) c.865-12T>G (n.865-12T>G) c.61-12T>G (n.61-12T>G) c.442-12T>G (n.442-12T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767022T= | CA1335894687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-12T= (n.856-12T=) c.868-12T= (n.868-12T=) c.862-12T= (n.862-12T=) c.865-12T= (n.865-12T=) c.61-12T= (n.61-12T=) c.442-12T= (n.442-12T=) | |
| 2 | g.233767025T>G | CA540071981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-9T>G (n.856-9T>G) c.868-9T>G (n.868-9T>G) c.862-9T>G (n.862-9T>G) c.865-9T>G (n.865-9T>G) c.61-9T>G (n.61-9T>G) c.442-9T>G (n.442-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767025T= | CA1335894688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-9T= (n.856-9T=) c.868-9T= (n.868-9T=) c.862-9T= (n.862-9T=) c.865-9T= (n.865-9T=) c.61-9T= (n.61-9T=) c.442-9T= (n.442-9T=) | |
| 2 | g.233767027G>A | CA2179919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-7G>A (n.856-7G>A) c.868-7G>A (n.868-7G>A) c.862-7G>A (n.862-7G>A) c.865-7G>A (n.865-7G>A) c.61-7G>A (n.61-7G>A) c.442-7G>A (n.442-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767027G= | CA1335894689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-7G= (n.856-7G=) c.868-7G= (n.868-7G=) c.862-7G= (n.862-7G=) c.865-7G= (n.865-7G=) c.61-7G= (n.61-7G=) c.442-7G= (n.442-7G=) | |
| 2 | g.233767030C>T | CA2577284398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-4C>T (n.856-4C>T) c.868-4C>T (n.868-4C>T) c.862-4C>T (n.862-4C>T) c.865-4C>T (n.865-4C>T) c.61-4C>T (n.61-4C>T) c.442-4C>T (n.442-4C>T) | |
| 2 | g.233767032A>C | CA351071572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>C (n.856-2A>C) c.868-2A>C (n.868-2A>C) c.862-2A>C (n.862-2A>C) c.865-2A>C (n.865-2A>C) c.61-2A>C (n.61-2A>C) c.442-2A>C (n.442-2A>C) | |
| 2 | g.233767032A>G | CA351071570 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>G (n.856-2A>G) c.868-2A>G (n.868-2A>G) c.862-2A>G (n.862-2A>G) c.865-2A>G (n.865-2A>G) c.61-2A>G (n.61-2A>G) c.442-2A>G (n.442-2A>G) | |
| 2 | g.233767032A>T | CA351071568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>T (n.856-2A>T) c.868-2A>T (n.868-2A>T) c.862-2A>T (n.862-2A>T) c.865-2A>T (n.865-2A>T) c.61-2A>T (n.61-2A>T) c.442-2A>T (n.442-2A>T) | |
| 2 | g.233767033G>A | CA351071573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>A (n.856-1G>A) c.868-1G>A (n.868-1G>A) c.862-1G>A (n.862-1G>A) c.865-1G>A (n.865-1G>A) c.61-1G>A (n.61-1G>A) c.442-1G>A (n.442-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767033G>C | CA351071574 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>C (n.856-1G>C) c.868-1G>C (n.868-1G>C) c.862-1G>C (n.862-1G>C) c.865-1G>C (n.865-1G>C) c.61-1G>C (n.61-1G>C) c.442-1G>C (n.442-1G>C) | |
| 2 | g.233767033G= | CA1335894690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G= (n.856-1G=) c.868-1G= (n.868-1G=) c.862-1G= (n.862-1G=) c.865-1G= (n.865-1G=) c.61-1G= (n.61-1G=) c.442-1G= (n.442-1G=) | |
| 2 | g.233767033G>T | CA351071575 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>T (n.856-1G>T) c.868-1G>T (n.868-1G>T) c.862-1G>T (n.862-1G>T) c.865-1G>T (n.865-1G>T) c.61-1G>T (n.61-1G>T) c.442-1G>T (n.442-1G>T) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767034G>A | CA351071578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>A (p.Glu286Lys) c.868G>A (p.Glu290Lys) c.862G>A (p.Glu288Lys) c.865G>A (p.Glu289Lys) c.61G>A (p.Glu21Lys) c.442G>A (n.442G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767034G>C | CA351071583 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>C (p.Glu286Gln) c.868G>C (p.Glu290Gln) c.862G>C (p.Glu288Gln) c.865G>C (p.Glu289Gln) c.61G>C (p.Glu21Gln) c.442G>C (n.442G>C) | |
| 2 | g.233767034G= | CA1335894691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G= (p.Glu286=) c.868G= (p.Glu290=) c.862G= (p.Glu288=) c.865G= (p.Glu289=) c.61G= (p.Glu21=) c.442G= (n.442G=) | |
| 2 | g.233767034G>T | CA351071584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>T (p.Glu286Ter) c.868G>T (p.Glu290Ter) c.862G>T (p.Glu288Ter) c.865G>T (p.Glu289Ter) c.61G>T (p.Glu21Ter) c.442G>T (n.442G>T) | |
| 2 | g.233767035A= | CA1335894692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A= (p.Glu286=) c.869A= (p.Glu290=) c.863A= (p.Glu288=) c.866A= (p.Glu289=) c.62A= (p.Glu21=) c.443A= (n.443A=) | |
| 2 | g.233767035A>C | CA351071590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>C (p.Glu286Ala) c.869A>C (p.Glu290Ala) c.863A>C (p.Glu288Ala) c.866A>C (p.Glu289Ala) c.62A>C (p.Glu21Ala) c.443A>C (n.443A>C) | |
| 2 | g.233767035A>G | CA351071596 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>G (p.Glu286Gly) c.869A>G (p.Glu290Gly) c.863A>G (p.Glu288Gly) c.866A>G (p.Glu289Gly) c.62A>G (p.Glu21Gly) c.443A>G (n.443A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767035A>T | CA351071598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>T (p.Glu286Val) c.869A>T (p.Glu290Val) c.863A>T (p.Glu288Val) c.866A>T (p.Glu289Val) c.62A>T (p.Glu21Val) c.443A>T (n.443A>T) | |
| 2 | g.233767036A>C | CA351071601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>C (p.Glu286Asp) c.870A>C (p.Glu290Asp) c.864A>C (p.Glu288Asp) c.867A>C (p.Glu289Asp) c.63A>C (p.Glu21Asp) c.444A>C (n.444A>C) | |
| 2 | g.233767036A>G | CA431855156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>G (p.Glu286=) c.870A>G (p.Glu290=) c.864A>G (p.Glu288=) c.867A>G (p.Glu289=) c.63A>G (p.Glu21=) c.444A>G (n.444A>G) | |
| 2 | g.233767036A>T | CA351071602 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>T (p.Glu286Asp) c.870A>T (p.Glu290Asp) c.864A>T (p.Glu288Asp) c.867A>T (p.Glu289Asp) c.63A>T (p.Glu21Asp) c.444A>T (n.444A>T) | |
| 2 | g.233767037T>A | CA351071610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>A (p.Phe287Ile) c.871T>A (p.Phe291Ile) c.865T>A (p.Phe289Ile) c.868T>A (p.Phe290Ile) c.64T>A (p.Phe22Ile) c.445T>A (n.445T>A) | |
| 2 | g.233767037T>C | CA351071609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>C (p.Phe287Leu) c.871T>C (p.Phe291Leu) c.865T>C (p.Phe289Leu) c.868T>C (p.Phe290Leu) c.64T>C (p.Phe22Leu) c.445T>C (n.445T>C) | |
| 2 | g.233767037T>G | CA351071604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>G (p.Phe287Val) c.871T>G (p.Phe291Val) c.865T>G (p.Phe289Val) c.868T>G (p.Phe290Val) c.64T>G (p.Phe22Val) c.445T>G (n.445T>G) | |
| 2 | g.233767038T>A | CA351071613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>A (p.Phe287Tyr) c.872T>A (p.Phe291Tyr) c.866T>A (p.Phe289Tyr) c.869T>A (p.Phe290Tyr) c.65T>A (p.Phe22Tyr) c.446T>A (n.446T>A) | |
| 2 | g.233767038T>C | CA351071615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>C (p.Phe287Ser) c.872T>C (p.Phe291Ser) c.866T>C (p.Phe289Ser) c.869T>C (p.Phe290Ser) c.65T>C (p.Phe22Ser) c.446T>C (n.446T>C) | |
| 2 | g.233767038T>G | CA351071617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>G (p.Phe287Cys) c.872T>G (p.Phe291Cys) c.866T>G (p.Phe289Cys) c.869T>G (p.Phe290Cys) c.65T>G (p.Phe22Cys) c.446T>G (n.446T>G) | |
| 2 | g.233767039T>A | CA351071619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>A (p.Phe287Leu) c.873T>A (p.Phe291Leu) c.867T>A (p.Phe289Leu) c.870T>A (p.Phe290Leu) c.66T>A (p.Phe22Leu) c.447T>A (n.447T>A) | |
| 2 | g.233767039T>C | CA431855185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>C (p.Phe287=) c.873T>C (p.Phe291=) c.867T>C (p.Phe289=) c.870T>C (p.Phe290=) c.66T>C (p.Phe22=) c.447T>C (n.447T>C) | dbSNP gnomAD v4 |
| 2 | g.233767039T>G | CA351071625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>G (p.Phe287Leu) c.873T>G (p.Phe291Leu) c.867T>G (p.Phe289Leu) c.870T>G (p.Phe290Leu) c.66T>G (p.Phe22Leu) c.447T>G (n.447T>G) | |
| 2 | g.233767039T= | CA1335894693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T= (p.Phe287=) c.873T= (p.Phe291=) c.867T= (p.Phe289=) c.870T= (p.Phe290=) c.66T= (p.Phe22=) c.447T= (n.447T=) | |
| 2 | g.233767040G>A | CA351071627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>A (p.Glu288Lys) c.874G>A (p.Glu292Lys) c.868G>A (p.Glu290Lys) c.871G>A (p.Glu291Lys) c.67G>A (p.Glu23Lys) c.448G>A (n.448G>A) | dbSNP |
| 2 | g.233767040G>C | CA351071630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>C (p.Glu288Gln) c.874G>C (p.Glu292Gln) c.868G>C (p.Glu290Gln) c.871G>C (p.Glu291Gln) c.67G>C (p.Glu23Gln) c.448G>C (n.448G>C) | |
| 2 | g.233767040G= | CA1335894694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G= (p.Glu288=) c.874G= (p.Glu292=) c.868G= (p.Glu290=) c.871G= (p.Glu291=) c.67G= (p.Glu23=) c.448G= (n.448G=) | |
| 2 | g.233767040G>T | CA351071633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>T (p.Glu288Ter) c.874G>T (p.Glu292Ter) c.868G>T (p.Glu290Ter) c.871G>T (p.Glu291Ter) c.67G>T (p.Glu23Ter) c.448G>T (n.448G>T) | |
| 2 | g.233767041A>C | CA351071636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.863A>C (p.Glu288Ala) c.875A>C (p.Glu292Ala) c.869A>C (p.Glu290Ala) c.872A>C (p.Glu291Ala) c.68A>C (p.Glu23Ala) c.449A>C (n.449A>C) | |
| 2 | g.233767041A>G | CA351071639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.863A>G (p.Glu288Gly) c.875A>G (p.Glu292Gly) c.869A>G (p.Glu290Gly) c.872A>G (p.Glu291Gly) c.68A>G (p.Glu23Gly) c.449A>G (n.449A>G) | |
| 2 | g.233767041A>T | CA351071641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.863A>T (p.Glu288Val) c.875A>T (p.Glu292Val) c.869A>T (p.Glu290Val) c.872A>T (p.Glu291Val) c.68A>T (p.Glu23Val) c.449A>T (n.449A>T) | |
| 2 | g.233767042A>C | CA351071644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.864A>C (p.Glu288Asp) c.876A>C (p.Glu292Asp) c.870A>C (p.Glu290Asp) c.873A>C (p.Glu291Asp) c.69A>C (p.Glu23Asp) c.450A>C (n.450A>C) | |
| 2 | g.233767042A>G | CA431855235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.864A>G (p.Glu288=) c.876A>G (p.Glu292=) c.870A>G (p.Glu290=) c.873A>G (p.Glu291=) c.69A>G (p.Glu23=) c.450A>G (n.450A>G) | |
| 2 | g.233767042A>T | CA351071646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.864A>T (p.Glu288Asp) c.876A>T (p.Glu292Asp) c.870A>T (p.Glu290Asp) c.873A>T (p.Glu291Asp) c.69A>T (p.Glu23Asp) c.450A>T (n.450A>T) | |
| 2 | g.233767043G>A | CA351071651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.865G>A (p.Ala289Thr) c.877G>A (p.Ala293Thr) c.871G>A (p.Ala291Thr) c.874G>A (p.Ala292Thr) c.70G>A (p.Ala24Thr) c.451G>A (n.451G>A) | |
| 2 | g.233767043G>C | CA351071653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.865G>C (p.Ala289Pro) c.877G>C (p.Ala293Pro) c.871G>C (p.Ala291Pro) c.874G>C (p.Ala292Pro) c.70G>C (p.Ala24Pro) c.451G>C (n.451G>C) | |
| 2 | g.233767043G>T | CA351071649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.865G>T (p.Ala289Ser) c.877G>T (p.Ala293Ser) c.871G>T (p.Ala291Ser) c.874G>T (p.Ala292Ser) c.70G>T (p.Ala24Ser) c.451G>T (n.451G>T) | |
| 2 | g.233767045_233767056del | CA2663716532 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867_878del (p.Tyr290_Ala293del) c.879_890del (p.Tyr294_Ala297del) c.873_884del (p.Tyr292_Ala295del) c.876_887del (p.Tyr293_Ala296del) c.72_83del (p.Tyr25_Ala28del) c.453_464del (n.453_464del) | gnomAD v4 |
| 2 | g.233767044C>A | CA2179920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.866C>A (p.Ala289Asp) c.878C>A (p.Ala293Asp) c.872C>A (p.Ala291Asp) c.875C>A (p.Ala292Asp) c.71C>A (p.Ala24Asp) c.452C>A (n.452C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767044C= | CA1335894695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.866C= (p.Ala289=) c.878C= (p.Ala293=) c.872C= (p.Ala291=) c.875C= (p.Ala292=) c.71C= (p.Ala24=) c.452C= (n.452C=) | |
| 2 | g.233767044C>G | CA351071656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.866C>G (p.Ala289Gly) c.878C>G (p.Ala293Gly) c.872C>G (p.Ala291Gly) c.875C>G (p.Ala292Gly) c.71C>G (p.Ala24Gly) c.452C>G (n.452C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767044C>T | CA351071658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.866C>T (p.Ala289Val) c.878C>T (p.Ala293Val) c.872C>T (p.Ala291Val) c.875C>T (p.Ala292Val) c.71C>T (p.Ala24Val) c.452C>T (n.452C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767045C>A | CA431855261 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867C>A (p.Ala289=) c.879C>A (p.Ala293=) c.873C>A (p.Ala291=) c.876C>A (p.Ala292=) c.72C>A (p.Ala24=) c.453C>A (n.453C>A) | |
| 2 | g.233767045C= | CA1335894697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867C= (p.Ala289=) c.879C= (p.Ala293=) c.873C= (p.Ala291=) c.876C= (p.Ala292=) c.72C= (p.Ala24=) c.453C= (n.453C=) | |
| 2 | g.233767045C>G | CA67595069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867C>G (p.Ala289=) c.879C>G (p.Ala293=) c.873C>G (p.Ala291=) c.876C>G (p.Ala292=) c.72C>G (p.Ala24=) c.453C>G (n.453C>G) | dbSNP gnomAD v4 |
| 2 | g.233767045C>T | CA431855262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867C>T (p.Ala289=) c.879C>T (p.Ala293=) c.873C>T (p.Ala291=) c.876C>T (p.Ala292=) c.72C>T (p.Ala24=) c.453C>T (n.453C>T) | |
| 2 | g.233767045_233767046delinsCT | CA1335894698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867_868delinsCT (p.Ala289=) c.879_880delinsCT (p.Ala293=) c.873_874delinsCT (p.Ala291=) c.876_877delinsCT (p.Ala292=) c.72_73delinsCT (p.Ala24=) c.453_454delinsCT (n.453_454delinsCT) | |
| 2 | g.233767045_233767058delinsCTACATTAATGCTT | CA1335894696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867_880delinsCTACATTAATGCTT (p.Ala289=) c.879_892delinsCTACATTAATGCTT (p.Ala293=) c.873_886delinsCTACATTAATGCTT (p.Ala291=) c.876_889delinsCTACATTAATGCTT (p.Ala292=) c.72_85delinsCTACATTAATGCTT (p.Ala24=) c.453_466delinsCTACATTAATGCTT (n.453_466delinsCTACATTAATGCTT) | |
| 2 | g.233767045_233767059delinsCTACATTAATGCTTC | CA1335894699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867_881delinsCTACATTAATGCTTC (p.Ala289=) c.879_893delinsCTACATTAATGCTTC (p.Ala293=) c.873_887delinsCTACATTAATGCTTC (p.Ala291=) c.876_890delinsCTACATTAATGCTTC (p.Ala292=) c.72_86delinsCTACATTAATGCTTC (p.Ala24=) c.453_467delinsCTACATTAATGCTTC (n.453_467delinsCTACATTAATGCTTC) | |
| 2 | g.233767046del | CA2179921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868del (p.Tyr290ThrfsTer?) c.880del (p.Tyr294ThrfsTer?) c.874del (p.Tyr292ThrfsTer?) c.877del (p.Tyr293ThrfsTer?) c.73del (p.Tyr25ThrfsTer?) c.454del (n.454del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767046T>A | CA351071661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868T>A (p.Tyr290Asn) c.880T>A (p.Tyr294Asn) c.874T>A (p.Tyr292Asn) c.877T>A (p.Tyr293Asn) c.73T>A (p.Tyr25Asn) c.454T>A (n.454T>A) | |
| 2 | g.233767046T>C | CA351071662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868T>C (p.Tyr290His) c.880T>C (p.Tyr294His) c.874T>C (p.Tyr292His) c.877T>C (p.Tyr293His) c.73T>C (p.Tyr25His) c.454T>C (n.454T>C) | |
| 2 | g.233767046T>G | CA351071663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868T>G (p.Tyr290Asp) c.880T>G (p.Tyr294Asp) c.874T>G (p.Tyr292Asp) c.877T>G (p.Tyr293Asp) c.73T>G (p.Tyr25Asp) c.454T>G (n.454T>G) | |
| 2 | g.233767046_233767058del | CA766269958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868_880del (p.Tyr290LeufsTer?) c.880_892del (p.Tyr294LeufsTer?) c.874_886del (p.Tyr292LeufsTer?) c.877_889del (p.Tyr293LeufsTer?) c.73_85del (p.Tyr25LeufsTer?) c.454_466del (n.454_466del) | dbSNP |
| 2 | g.233767046_233767059delinsA | CA122006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.868_881delinsA (p.Tyr290MetfsTer?) c.880_893delinsA (p.Tyr294MetfsTer?) c.874_887delinsA (p.Tyr292MetfsTer?) c.877_890delinsA (p.Tyr293MetfsTer?) c.73_86delinsA (p.Tyr25MetfsTer?) c.454_467delinsA (n.454_467delinsA) | ClinVar dbSNP |
| 2 | g.233767047A>C | CA351071666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.869A>C (p.Tyr290Ser) c.881A>C (p.Tyr294Ser) c.875A>C (p.Tyr292Ser) c.878A>C (p.Tyr293Ser) c.74A>C (p.Tyr25Ser) c.455A>C (n.455A>C) | |
| 2 | g.233767047A>G | CA351071668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.869A>G (p.Tyr290Cys) c.881A>G (p.Tyr294Cys) c.875A>G (p.Tyr292Cys) c.878A>G (p.Tyr293Cys) c.74A>G (p.Tyr25Cys) c.455A>G (n.455A>G) | gnomAD v4 |
| 2 | g.233767047A>T | CA351071671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.869A>T (p.Tyr290Phe) c.881A>T (p.Tyr294Phe) c.875A>T (p.Tyr292Phe) c.878A>T (p.Tyr293Phe) c.74A>T (p.Tyr25Phe) c.455A>T (n.455A>T) | |
| 2 | g.233767047_233767059delinsACATTAATGCTTC | CA1335894700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.869_881delinsACATTAATGCTTC (p.Tyr290=) c.881_893delinsACATTAATGCTTC (p.Tyr294=) c.875_887delinsACATTAATGCTTC (p.Tyr292=) c.878_890delinsACATTAATGCTTC (p.Tyr293=) c.74_86delinsACATTAATGCTTC (p.Tyr25=) c.455_467delinsACATTAATGCTTC (n.455_467delinsACATTAATGCTTC) | |
| 2 | g.233767048C>A | CA351071674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870C>A (p.Tyr290Ter) c.882C>A (p.Tyr294Ter) c.876C>A (p.Tyr292Ter) c.879C>A (p.Tyr293Ter) c.75C>A (p.Tyr25Ter) c.456C>A (n.456C>A) | |
| 2 | g.233767048C= | CA1335894701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870C= (p.Tyr290=) c.882C= (p.Tyr294=) c.876C= (p.Tyr292=) c.879C= (p.Tyr293=) c.75C= (p.Tyr25=) c.456C= (n.456C=) | |
| 2 | g.233767048C>G | CA351071676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870C>G (p.Tyr290Ter) c.882C>G (p.Tyr294Ter) c.876C>G (p.Tyr292Ter) c.879C>G (p.Tyr293Ter) c.75C>G (p.Tyr25Ter) c.456C>G (n.456C>G) | |
| 2 | g.233767048C>T | CA431855301 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870C>T (p.Tyr290=) c.882C>T (p.Tyr294=) c.876C>T (p.Tyr292=) c.879C>T (p.Tyr293=) c.75C>T (p.Tyr25=) c.456C>T (n.456C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767048_233767059del | CA2179922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870_881del (p.Ile291_Ser294del) c.882_893del (p.Ile295_Ser298del) c.876_887del (p.Ile293_Ser296del) c.879_890del (p.Ile294_Ser297del) c.75_86del (p.Ile26_Ser29del) c.456_467del (n.456_467del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767049A>C | CA351071683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.871A>C (p.Ile291Leu) c.883A>C (p.Ile295Leu) c.877A>C (p.Ile293Leu) c.880A>C (p.Ile294Leu) c.76A>C (p.Ile26Leu) c.457A>C (n.457A>C) | |
| 2 | g.233767049A>G | CA351071680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.871A>G (p.Ile291Val) c.883A>G (p.Ile295Val) c.877A>G (p.Ile293Val) c.880A>G (p.Ile294Val) c.76A>G (p.Ile26Val) c.457A>G (n.457A>G) | |
| 2 | g.233767049A>T | CA351071682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.871A>T (p.Ile291Phe) c.883A>T (p.Ile295Phe) c.877A>T (p.Ile293Phe) c.880A>T (p.Ile294Phe) c.76A>T (p.Ile26Phe) c.457A>T (n.457A>T) | |
| 2 | g.233767050T>A | CA351071686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.872T>A (p.Ile291Asn) c.884T>A (p.Ile295Asn) c.878T>A (p.Ile293Asn) c.881T>A (p.Ile294Asn) c.77T>A (p.Ile26Asn) c.458T>A (n.458T>A) | |
| 2 | g.233767050T>C | CA67595088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.872T>C (p.Ile291Thr) c.884T>C (p.Ile295Thr) c.878T>C (p.Ile293Thr) c.881T>C (p.Ile294Thr) c.77T>C (p.Ile26Thr) c.458T>C (n.458T>C) | dbSNP |
| 2 | g.233767050T>G | CA351071698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.872T>G (p.Ile291Ser) c.884T>G (p.Ile295Ser) c.878T>G (p.Ile293Ser) c.881T>G (p.Ile294Ser) c.77T>G (p.Ile26Ser) c.458T>G (n.458T>G) | |
| 2 | g.233767050T= | CA1335894702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.872T= (p.Ile291=) c.884T= (p.Ile295=) c.878T= (p.Ile293=) c.881T= (p.Ile294=) c.77T= (p.Ile26=) c.458T= (n.458T=) | |
| 2 | g.233767051del | CA2663716561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.873del (p.Asn292MetfsTer?) c.885del (p.Asn296MetfsTer?) c.879del (p.Asn294MetfsTer?) c.882del (p.Asn295MetfsTer?) c.78del (p.Asn27MetfsTer?) c.459del (n.459del) | gnomAD v4 |
| 2 | g.233767051T>A | CA431855338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.873T>A (p.Ile291=) c.885T>A (p.Ile295=) c.879T>A (p.Ile293=) c.882T>A (p.Ile294=) c.78T>A (p.Ile26=) c.459T>A (n.459T>A) | |
| 2 | g.233767051T>C | CA431855333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.873T>C (p.Ile291=) c.885T>C (p.Ile295=) c.879T>C (p.Ile293=) c.882T>C (p.Ile294=) c.78T>C (p.Ile26=) c.459T>C (n.459T>C) | |
| 2 | g.233767051T>G | CA351071700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.873T>G (p.Ile291Met) c.885T>G (p.Ile295Met) c.879T>G (p.Ile293Met) c.882T>G (p.Ile294Met) c.78T>G (p.Ile26Met) c.459T>G (n.459T>G) | |
| 2 | g.233767052A>C | CA351071703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.874A>C (p.Asn292His) c.886A>C (p.Asn296His) c.880A>C (p.Asn294His) c.883A>C (p.Asn295His) c.79A>C (p.Asn27His) c.460A>C (n.460A>C) | |
| 2 | g.233767052A>G | CA351071704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.874A>G (p.Asn292Asp) c.886A>G (p.Asn296Asp) c.880A>G (p.Asn294Asp) c.883A>G (p.Asn295Asp) c.79A>G (p.Asn27Asp) c.460A>G (n.460A>G) | |
| 2 | g.233767052A>T | CA351071705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.874A>T (p.Asn292Tyr) c.886A>T (p.Asn296Tyr) c.880A>T (p.Asn294Tyr) c.883A>T (p.Asn295Tyr) c.79A>T (p.Asn27Tyr) c.460A>T (n.460A>T) | |
| 2 | g.233767053A>C | CA351071707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.875A>C (p.Asn292Thr) c.887A>C (p.Asn296Thr) c.881A>C (p.Asn294Thr) c.884A>C (p.Asn295Thr) c.80A>C (p.Asn27Thr) c.461A>C (n.461A>C) | |
| 2 | g.233767053A>G | CA351071709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.875A>G (p.Asn292Ser) c.887A>G (p.Asn296Ser) c.881A>G (p.Asn294Ser) c.884A>G (p.Asn295Ser) c.80A>G (p.Asn27Ser) c.461A>G (n.461A>G) | |
| 2 | g.233767053A>T | CA351071710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.875A>T (p.Asn292Ile) c.887A>T (p.Asn296Ile) c.881A>T (p.Asn294Ile) c.884A>T (p.Asn295Ile) c.80A>T (p.Asn27Ile) c.461A>T (n.461A>T) | |
| 2 | g.233767054T>A | CA351071711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.876T>A (p.Asn292Lys) c.888T>A (p.Asn296Lys) c.882T>A (p.Asn294Lys) c.885T>A (p.Asn295Lys) c.81T>A (p.Asn27Lys) c.462T>A (n.462T>A) | |
| 2 | g.233767054T>C | CA431855356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.876T>C (p.Asn292=) c.888T>C (p.Asn296=) c.882T>C (p.Asn294=) c.885T>C (p.Asn295=) c.81T>C (p.Asn27=) c.462T>C (n.462T>C) | dbSNP gnomAD v4 |
| 2 | g.233767054T>G | CA351071713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.876T>G (p.Asn292Lys) c.888T>G (p.Asn296Lys) c.882T>G (p.Asn294Lys) c.885T>G (p.Asn295Lys) c.81T>G (p.Asn27Lys) c.462T>G (n.462T>G) | |
| 2 | g.233767054T= | CA1335894703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.876T= (p.Asn292=) c.888T= (p.Asn296=) c.882T= (p.Asn294=) c.885T= (p.Asn295=) c.81T= (p.Asn27=) c.462T= (n.462T=) | |
| 2 | g.233767055G>A | CA351071720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.877G>A (p.Ala293Thr) c.889G>A (p.Ala297Thr) c.883G>A (p.Ala295Thr) c.886G>A (p.Ala296Thr) c.82G>A (p.Ala28Thr) c.463G>A (n.463G>A) | |
| 2 | g.233767055G>C | CA351071718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.877G>C (p.Ala293Pro) c.889G>C (p.Ala297Pro) c.883G>C (p.Ala295Pro) c.886G>C (p.Ala296Pro) c.82G>C (p.Ala28Pro) c.463G>C (n.463G>C) | |
| 2 | g.233767055G>T | CA351071715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.877G>T (p.Ala293Ser) c.889G>T (p.Ala297Ser) c.883G>T (p.Ala295Ser) c.886G>T (p.Ala296Ser) c.82G>T (p.Ala28Ser) c.463G>T (n.463G>T) | |
| 2 | g.233767056C>A | CA351071722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.878C>A (p.Ala293Asp) c.890C>A (p.Ala297Asp) c.884C>A (p.Ala295Asp) c.887C>A (p.Ala296Asp) c.83C>A (p.Ala28Asp) c.464C>A (n.464C>A) | |
| 2 | g.233767056C>G | CA351071727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.878C>G (p.Ala293Gly) c.890C>G (p.Ala297Gly) c.884C>G (p.Ala295Gly) c.887C>G (p.Ala296Gly) c.83C>G (p.Ala28Gly) c.464C>G (n.464C>G) | |
| 2 | g.233767056C>T | CA351071730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.878C>T (p.Ala293Val) c.890C>T (p.Ala297Val) c.884C>T (p.Ala295Val) c.887C>T (p.Ala296Val) c.83C>T (p.Ala28Val) c.464C>T (n.464C>T) | |
| 2 | g.233767057T>A | CA431855388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.879T>A (p.Ala293=) c.891T>A (p.Ala297=) c.885T>A (p.Ala295=) c.888T>A (p.Ala296=) c.84T>A (p.Ala28=) c.465T>A (n.465T>A) | |
| 2 | g.233767057T>C | CA431855389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.879T>C (p.Ala293=) c.891T>C (p.Ala297=) c.885T>C (p.Ala295=) c.888T>C (p.Ala296=) c.84T>C (p.Ala28=) c.465T>C (n.465T>C) | |
| 2 | g.233767057T>G | CA431855383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.879T>G (p.Ala293=) c.891T>G (p.Ala297=) c.885T>G (p.Ala295=) c.888T>G (p.Ala296=) c.84T>G (p.Ala28=) c.465T>G (n.465T>G) | dbSNP |
| 2 | g.233767057T= | CA1335894704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.879T= (p.Ala293=) c.891T= (p.Ala297=) c.885T= (p.Ala295=) c.888T= (p.Ala296=) c.84T= (p.Ala28=) c.465T= (n.465T=) | |
| 2 | g.233767058T>A | CA351071733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.880T>A (p.Ser294Thr) c.892T>A (p.Ser298Thr) c.886T>A (p.Ser296Thr) c.889T>A (p.Ser297Thr) c.85T>A (p.Ser29Thr) c.466T>A (n.466T>A) | |
| 2 | g.233767058T>C | CA351071735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.880T>C (p.Ser294Pro) c.892T>C (p.Ser298Pro) c.886T>C (p.Ser296Pro) c.889T>C (p.Ser297Pro) c.85T>C (p.Ser29Pro) c.466T>C (n.466T>C) | |
| 2 | g.233767058T>G | CA351071743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.880T>G (p.Ser294Ala) c.892T>G (p.Ser298Ala) c.886T>G (p.Ser296Ala) c.889T>G (p.Ser297Ala) c.85T>G (p.Ser29Ala) c.466T>G (n.466T>G) | |
| 2 | g.233767059C>A | CA67595089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.881C>A (p.Ser294Tyr) c.893C>A (p.Ser298Tyr) c.887C>A (p.Ser296Tyr) c.890C>A (p.Ser297Tyr) c.86C>A (p.Ser29Tyr) c.467C>A (n.467C>A) | dbSNP |
| 2 | g.233767059C= | CA1335894705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.881C= (p.Ser294=) c.893C= (p.Ser298=) c.887C= (p.Ser296=) c.890C= (p.Ser297=) c.86C= (p.Ser29=) c.467C= (n.467C=) | |
| 2 | g.233767059C>G | CA351071751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.881C>G (p.Ser294Cys) c.893C>G (p.Ser298Cys) c.887C>G (p.Ser296Cys) c.890C>G (p.Ser297Cys) c.86C>G (p.Ser29Cys) c.467C>G (n.467C>G) | |
| 2 | g.233767059C>T | CA351071754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.881C>T (p.Ser294Phe) c.893C>T (p.Ser298Phe) c.887C>T (p.Ser296Phe) c.890C>T (p.Ser297Phe) c.86C>T (p.Ser29Phe) c.467C>T (n.467C>T) | |
| 2 | g.233767060T>A | CA431855424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.882T>A (p.Ser294=) c.894T>A (p.Ser298=) c.888T>A (p.Ser296=) c.891T>A (p.Ser297=) c.87T>A (p.Ser29=) c.468T>A (n.468T>A) | |
| 2 | g.233767060T>C | CA431855421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.882T>C (p.Ser294=) c.894T>C (p.Ser298=) c.888T>C (p.Ser296=) c.891T>C (p.Ser297=) c.87T>C (p.Ser29=) c.468T>C (n.468T>C) | dbSNP |
| 2 | g.233767060T>G | CA431855427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.882T>G (p.Ser294=) c.894T>G (p.Ser298=) c.888T>G (p.Ser296=) c.891T>G (p.Ser297=) c.87T>G (p.Ser29=) c.468T>G (n.468T>G) | |
| 2 | g.233767060T= | CA1335894706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.882T= (p.Ser294=) c.894T= (p.Ser298=) c.888T= (p.Ser296=) c.891T= (p.Ser297=) c.87T= (p.Ser29=) c.468T= (n.468T=) |