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 |
|---|---|---|---|---|---|
| 4 | g.69098572A>C | CA357096712 | UGT2B11,UGT2B7 | c.754A>C (p.Lys252Gln) c.7A>C (p.Lys3Gln) n.292A>C c.*106-93819T>G (n.*106-93819T>G) c.*380-93819T>G (n.*380-93819T>G) | |
| 4 | g.69098572A>G | CA357096713 | UGT2B11,UGT2B7 | c.754A>G (p.Lys252Glu) c.7A>G (p.Lys3Glu) n.292A>G c.*106-93819T>C (n.*106-93819T>C) c.*380-93819T>C (n.*380-93819T>C) | |
| 4 | g.69098572A>T | CA357096714 | UGT2B11,UGT2B7 | c.754A>T (p.Lys252Ter) c.7A>T (p.Lys3Ter) n.292A>T c.*106-93819T>A (n.*106-93819T>A) c.*380-93819T>A (n.*380-93819T>A) | |
| 4 | g.69098573A>C | CA357096715 | UGT2B11,UGT2B7 | c.755A>C (p.Lys252Thr) c.8A>C (p.Lys3Thr) n.293A>C c.*106-93820T>G (n.*106-93820T>G) c.*380-93820T>G (n.*380-93820T>G) | COSMIC |
| 4 | g.69098573A>G | CA357096716 | UGT2B11,UGT2B7 | c.755A>G (p.Lys252Arg) c.8A>G (p.Lys3Arg) n.293A>G c.*106-93820T>C (n.*106-93820T>C) c.*380-93820T>C (n.*380-93820T>C) | |
| 4 | g.69098573A>T | CA357096717 | UGT2B11,UGT2B7 | c.755A>T (p.Lys252Ile) c.8A>T (p.Lys3Ile) n.293A>T c.*106-93820T>A (n.*106-93820T>A) c.*380-93820T>A (n.*380-93820T>A) | |
| 4 | g.69098574A>C | CA357096719 | UGT2B11,UGT2B7 | c.756A>C (p.Lys252Asn) c.9A>C (p.Lys3Asn) n.294A>C c.*106-93821T>G (n.*106-93821T>G) c.*380-93821T>G (n.*380-93821T>G) | gnomAD v4 |
| 4 | g.69098574A>G | CA439737143 | UGT2B11,UGT2B7 | c.756A>G (p.Lys252=) c.9A>G (p.Lys3=) n.294A>G c.*106-93821T>C (n.*106-93821T>C) c.*380-93821T>C (n.*380-93821T>C) | |
| 4 | g.69098574A>T | CA357096718 | UGT2B11,UGT2B7 | c.756A>T (p.Lys252Asn) c.9A>T (p.Lys3Asn) n.294A>T c.*106-93821T>A (n.*106-93821T>A) c.*380-93821T>A (n.*380-93821T>A) | |
| 4 | g.69098575G>A | CA357096720 | UGT2B11,UGT2B7 | c.757G>A (p.Ala253Thr) c.10G>A (p.Ala4Thr) n.295G>A c.*106-93822C>T (n.*106-93822C>T) c.*380-93822C>T (n.*380-93822C>T) | dbSNP gnomAD v4 |
| 4 | g.69098575G>C | CA357096721 | UGT2B11,UGT2B7 | c.757G>C (p.Ala253Pro) c.10G>C (p.Ala4Pro) n.295G>C c.*106-93822C>G (n.*106-93822C>G) c.*380-93822C>G (n.*380-93822C>G) | |
| 4 | g.69098575G= | CA1466050286 | UGT2B11,UGT2B7 | c.757G= (p.Ala253=) c.10G= (p.Ala4=) n.295G= c.*106-93822C= (n.*106-93822C=) c.*380-93822C= (n.*380-93822C=) | |
| 4 | g.69098575G>T | CA357096722 | UGT2B11,UGT2B7 | c.757G>T (p.Ala253Ser) c.10G>T (p.Ala4Ser) n.295G>T c.*106-93822C>A (n.*106-93822C>A) c.*380-93822C>A (n.*380-93822C>A) | dbSNP |
| 4 | g.69098576C>A | CA357096723 | UGT2B11,UGT2B7 | c.758C>A (p.Ala253Asp) c.11C>A (p.Ala4Asp) n.296C>A c.*106-93823G>T (n.*106-93823G>T) c.*380-93823G>T (n.*380-93823G>T) | dbSNP |
| 4 | g.69098576C= | CA1466050287 | UGT2B11,UGT2B7 | c.758C= (p.Ala253=) c.11C= (p.Ala4=) n.296C= c.*106-93823G= (n.*106-93823G=) c.*380-93823G= (n.*380-93823G=) | |
| 4 | g.69098576C>G | CA357096724 | UGT2B11,UGT2B7 | c.758C>G (p.Ala253Gly) c.11C>G (p.Ala4Gly) n.296C>G c.*106-93823G>C (n.*106-93823G>C) c.*380-93823G>C (n.*380-93823G>C) | |
| 4 | g.69098576C>T | CA2944686 | UGT2B11,UGT2B7 | c.758C>T (p.Ala253Val) c.11C>T (p.Ala4Val) n.296C>T c.*106-93823G>A (n.*106-93823G>A) c.*380-93823G>A (n.*380-93823G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098577T>A | CA439737155 | UGT2B11,UGT2B7 | c.759T>A (p.Ala253=) c.12T>A (p.Ala4=) n.297T>A c.*106-93824A>T (n.*106-93824A>T) c.*380-93824A>T (n.*380-93824A>T) | |
| 4 | g.69098577T>C | CA439737156 | UGT2B11,UGT2B7 | c.759T>C (p.Ala253=) c.12T>C (p.Ala4=) n.297T>C c.*106-93824A>G (n.*106-93824A>G) c.*380-93824A>G (n.*380-93824A>G) | |
| 4 | g.69098577T>G | CA439737157 | UGT2B11,UGT2B7 | c.759T>G (p.Ala253=) c.12T>G (p.Ala4=) n.297T>G c.*106-93824A>C (n.*106-93824A>C) c.*380-93824A>C (n.*380-93824A>C) | |
| 4 | g.69098578G>A | CA2944687 | UGT2B11,UGT2B7 | c.760G>A (p.Asp254Asn) c.13G>A (p.Asp5Asn) n.298G>A c.*106-93825C>T (n.*106-93825C>T) c.*380-93825C>T (n.*380-93825C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098578G>C | CA357096725 | UGT2B11,UGT2B7 | c.760G>C (p.Asp254His) c.13G>C (p.Asp5His) n.298G>C c.*106-93825C>G (n.*106-93825C>G) c.*380-93825C>G (n.*380-93825C>G) | |
| 4 | g.69098578G= | CA1466050288 | UGT2B11,UGT2B7 | c.760G= (p.Asp254=) c.13G= (p.Asp5=) n.298G= c.*106-93825C= (n.*106-93825C=) c.*380-93825C= (n.*380-93825C=) | |
| 4 | g.69098578G>T | CA357096726 | UGT2B11,UGT2B7 | c.760G>T (p.Asp254Tyr) c.13G>T (p.Asp5Tyr) n.298G>T c.*106-93825C>A (n.*106-93825C>A) c.*380-93825C>A (n.*380-93825C>A) | |
| 4 | g.69098579A>C | CA357096727 | UGT2B11,UGT2B7 | c.761A>C (p.Asp254Ala) c.14A>C (p.Asp5Ala) n.299A>C c.*106-93826T>G (n.*106-93826T>G) c.*380-93826T>G (n.*380-93826T>G) | |
| 4 | g.69098579A>G | CA357096728 | UGT2B11,UGT2B7 | c.761A>G (p.Asp254Gly) c.14A>G (p.Asp5Gly) n.299A>G c.*106-93826T>C (n.*106-93826T>C) c.*380-93826T>C (n.*380-93826T>C) | |
| 4 | g.69098579A>T | CA357096729 | UGT2B11,UGT2B7 | c.761A>T (p.Asp254Val) c.14A>T (p.Asp5Val) n.299A>T c.*106-93826T>A (n.*106-93826T>A) c.*380-93826T>A (n.*380-93826T>A) | |
| 4 | g.69098580C>A | CA357096730 | UGT2B11,UGT2B7 | c.762C>A (p.Asp254Glu) c.15C>A (p.Asp5Glu) n.300C>A c.*106-93827G>T (n.*106-93827G>T) c.*380-93827G>T (n.*380-93827G>T) | |
| 4 | g.69098580C= | CA1466050289 | UGT2B11,UGT2B7 | c.762C= (p.Asp254=) c.15C= (p.Asp5=) n.300C= c.*106-93827G= (n.*106-93827G=) c.*380-93827G= (n.*380-93827G=) | |
| 4 | g.69098580C>G | CA357096731 | UGT2B11,UGT2B7 | c.762C>G (p.Asp254Glu) c.15C>G (p.Asp5Glu) n.300C>G c.*106-93827G>C (n.*106-93827G>C) c.*380-93827G>C (n.*380-93827G>C) | |
| 4 | g.69098580C>T | CA2944688 | UGT2B11,UGT2B7 | c.762C>T (p.Asp254=) c.15C>T (p.Asp5=) n.300C>T c.*106-93827G>A (n.*106-93827G>A) c.*380-93827G>A (n.*380-93827G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098581G>A | CA2944689 | UGT2B11,UGT2B7 | c.763G>A (p.Val255Ile) c.16G>A (p.Val6Ile) n.301G>A c.*106-93828C>T (n.*106-93828C>T) c.*380-93828C>T (n.*380-93828C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.69098581G>C | CA357096732 | UGT2B11,UGT2B7 | c.763G>C (p.Val255Leu) c.16G>C (p.Val6Leu) n.301G>C c.*106-93828C>G (n.*106-93828C>G) c.*380-93828C>G (n.*380-93828C>G) | |
| 4 | g.69098581G= | CA1466050290 | UGT2B11,UGT2B7 | c.763G= (p.Val255=) c.16G= (p.Val6=) n.301G= c.*106-93828C= (n.*106-93828C=) c.*380-93828C= (n.*380-93828C=) | |
| 4 | g.69098581G>T | CA357096733 | UGT2B11,UGT2B7 | c.763G>T (p.Val255Leu) c.16G>T (p.Val6Leu) n.301G>T c.*106-93828C>A (n.*106-93828C>A) c.*380-93828C>A (n.*380-93828C>A) | |
| 4 | g.69098582T>A | CA357096734 | UGT2B11,UGT2B7 | c.764T>A (p.Val255Glu) c.17T>A (p.Val6Glu) n.302T>A c.*106-93829A>T (n.*106-93829A>T) c.*380-93829A>T (n.*380-93829A>T) | |
| 4 | g.69098582T>C | CA357096735 | UGT2B11,UGT2B7 | c.764T>C (p.Val255Ala) c.17T>C (p.Val6Ala) n.302T>C c.*106-93829A>G (n.*106-93829A>G) c.*380-93829A>G (n.*380-93829A>G) | dbSNP |
| 4 | g.69098582T>G | CA357096736 | UGT2B11,UGT2B7 | c.764T>G (p.Val255Gly) c.17T>G (p.Val6Gly) n.302T>G c.*106-93829A>C (n.*106-93829A>C) c.*380-93829A>C (n.*380-93829A>C) | |
| 4 | g.69098583A>C | CA439737181 | UGT2B11,UGT2B7 | c.765A>C (p.Val255=) c.18A>C (p.Val6=) n.303A>C c.*106-93830T>G (n.*106-93830T>G) c.*380-93830T>G (n.*380-93830T>G) | |
| 4 | g.69098583A>G | CA439737183 | UGT2B11,UGT2B7 | c.765A>G (p.Val255=) c.18A>G (p.Val6=) n.303A>G c.*106-93830T>C (n.*106-93830T>C) c.*380-93830T>C (n.*380-93830T>C) | gnomAD v4 |
| 4 | g.69098583A>T | CA439737185 | UGT2B11,UGT2B7 | c.765A>T (p.Val255=) c.18A>T (p.Val6=) n.303A>T c.*106-93830T>A (n.*106-93830T>A) c.*380-93830T>A (n.*380-93830T>A) | |
| 4 | g.69098584T>A | CA357096737 | UGT2B11,UGT2B7 | c.766T>A (p.Trp256Arg) c.19T>A (p.Trp7Arg) n.304T>A c.*106-93831A>T (n.*106-93831A>T) c.*380-93831A>T (n.*380-93831A>T) | |
| 4 | g.69098584T>C | CA357096739 | UGT2B11,UGT2B7 | c.766T>C (p.Trp256Arg) c.19T>C (p.Trp7Arg) n.304T>C c.*106-93831A>G (n.*106-93831A>G) c.*380-93831A>G (n.*380-93831A>G) | gnomAD v4 |
| 4 | g.69098584T>G | CA357096738 | UGT2B11,UGT2B7 | c.766T>G (p.Trp256Gly) c.19T>G (p.Trp7Gly) n.304T>G c.*106-93831A>C (n.*106-93831A>C) c.*380-93831A>C (n.*380-93831A>C) | |
| 4 | g.69098585G>A | CA357096740 | UGT2B11,UGT2B7 | c.767G>A (p.Trp256Ter) c.20G>A (p.Trp7Ter) n.305G>A c.*106-93832C>T (n.*106-93832C>T) c.*380-93832C>T (n.*380-93832C>T) | |
| 4 | g.69098585G>C | CA357096742 | UGT2B11,UGT2B7 | c.767G>C (p.Trp256Ser) c.20G>C (p.Trp7Ser) n.305G>C c.*106-93832C>G (n.*106-93832C>G) c.*380-93832C>G (n.*380-93832C>G) | |
| 4 | g.69098585G>T | CA357096741 | UGT2B11,UGT2B7 | c.767G>T (p.Trp256Leu) c.20G>T (p.Trp7Leu) n.305G>T c.*106-93832C>A (n.*106-93832C>A) c.*380-93832C>A (n.*380-93832C>A) | |
| 4 | g.69098586G>A | CA357096743 | UGT2B11,UGT2B7 | c.768G>A (p.Trp256Ter) c.21G>A (p.Trp7Ter) n.306G>A c.*106-93833C>T (n.*106-93833C>T) c.*380-93833C>T (n.*380-93833C>T) | COSMIC |
| 4 | g.69098586G>C | CA357096744 | UGT2B11,UGT2B7 | c.768G>C (p.Trp256Cys) c.21G>C (p.Trp7Cys) n.306G>C c.*106-93833C>G (n.*106-93833C>G) c.*380-93833C>G (n.*380-93833C>G) | |
| 4 | g.69098586G= | CA1466050291 | UGT2B11,UGT2B7 | c.768G= (p.Trp256=) c.21G= (p.Trp7=) n.306G= c.*106-93833C= (n.*106-93833C=) c.*380-93833C= (n.*380-93833C=) | |
| 4 | g.69098586G>T | CA357096745 | UGT2B11,UGT2B7 | c.768G>T (p.Trp256Cys) c.21G>T (p.Trp7Cys) n.306G>T c.*106-93833C>A (n.*106-93833C>A) c.*380-93833C>A (n.*380-93833C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098587C>A | CA357096746 | UGT2B11,UGT2B7 | c.769C>A (p.Leu257Ile) c.22C>A (p.Leu8Ile) n.307C>A c.*106-93834G>T (n.*106-93834G>T) c.*380-93834G>T (n.*380-93834G>T) | |
| 4 | g.69098587C>G | CA357096747 | UGT2B11,UGT2B7 | c.769C>G (p.Leu257Val) c.22C>G (p.Leu8Val) n.307C>G c.*106-93834G>C (n.*106-93834G>C) c.*380-93834G>C (n.*380-93834G>C) | |
| 4 | g.69098587C>T | CA357096748 | UGT2B11,UGT2B7 | c.769C>T (p.Leu257Phe) c.22C>T (p.Leu8Phe) n.307C>T c.*106-93834G>A (n.*106-93834G>A) c.*380-93834G>A (n.*380-93834G>A) | |
| 4 | g.69098588T>A | CA357096749 | UGT2B11,UGT2B7 | c.770T>A (p.Leu257His) c.23T>A (p.Leu8His) n.308T>A c.*106-93835A>T (n.*106-93835A>T) c.*380-93835A>T (n.*380-93835A>T) | |
| 4 | g.69098588T>C | CA357096750 | UGT2B11,UGT2B7 | c.770T>C (p.Leu257Pro) c.23T>C (p.Leu8Pro) n.308T>C c.*106-93835A>G (n.*106-93835A>G) c.*380-93835A>G (n.*380-93835A>G) | |
| 4 | g.69098588T>G | CA357096751 | UGT2B11,UGT2B7 | c.770T>G (p.Leu257Arg) c.23T>G (p.Leu8Arg) n.308T>G c.*106-93835A>C (n.*106-93835A>C) c.*380-93835A>C (n.*380-93835A>C) | gnomAD v4 |
| 4 | g.69098589T>A | CA439737212 | UGT2B11,UGT2B7 | c.771T>A (p.Leu257=) c.24T>A (p.Leu8=) n.309T>A c.*106-93836A>T (n.*106-93836A>T) c.*380-93836A>T (n.*380-93836A>T) | |
| 4 | g.69098589T>C | CA439737214 | UGT2B11,UGT2B7 | c.771T>C (p.Leu257=) c.24T>C (p.Leu8=) n.309T>C c.*106-93836A>G (n.*106-93836A>G) c.*380-93836A>G (n.*380-93836A>G) | |
| 4 | g.69098589T>G | CA439737210 | UGT2B11,UGT2B7 | c.771T>G (p.Leu257=) c.24T>G (p.Leu8=) n.309T>G c.*106-93836A>C (n.*106-93836A>C) c.*380-93836A>C (n.*380-93836A>C) | |
| 4 | g.69098590A>C | CA357096752 | UGT2B11,UGT2B7 | c.772A>C (p.Ile258Leu) c.25A>C (p.Ile9Leu) n.310A>C c.*106-93837T>G (n.*106-93837T>G) c.*380-93837T>G (n.*380-93837T>G) | |
| 4 | g.69098590A>G | CA357096753 | UGT2B11,UGT2B7 | c.772A>G (p.Ile258Val) c.25A>G (p.Ile9Val) n.310A>G c.*106-93837T>C (n.*106-93837T>C) c.*380-93837T>C (n.*380-93837T>C) | |
| 4 | g.69098590A>T | CA357096754 | UGT2B11,UGT2B7 | c.772A>T (p.Ile258Phe) c.25A>T (p.Ile9Phe) n.310A>T c.*106-93837T>A (n.*106-93837T>A) c.*380-93837T>A (n.*380-93837T>A) | |
| 4 | g.69098591T>A | CA357096755 | UGT2B11,UGT2B7 | c.773T>A (p.Ile258Asn) c.26T>A (p.Ile9Asn) n.311T>A c.*106-93838A>T (n.*106-93838A>T) c.*380-93838A>T (n.*380-93838A>T) | |
| 4 | g.69098591T>C | CA357096757 | UGT2B11,UGT2B7 | c.773T>C (p.Ile258Thr) c.26T>C (p.Ile9Thr) n.311T>C c.*106-93838A>G (n.*106-93838A>G) c.*380-93838A>G (n.*380-93838A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098591T>G | CA357096756 | UGT2B11,UGT2B7 | c.773T>G (p.Ile258Ser) c.26T>G (p.Ile9Ser) n.311T>G c.*106-93838A>C (n.*106-93838A>C) c.*380-93838A>C (n.*380-93838A>C) | |
| 4 | g.69098591T= | CA1466050292 | UGT2B11,UGT2B7 | c.773T= (p.Ile258=) c.26T= (p.Ile9=) n.311T= c.*106-93838A= (n.*106-93838A=) c.*380-93838A= (n.*380-93838A=) | |
| 4 | g.69098592T>A | CA439737227 | UGT2B11,UGT2B7 | c.774T>A (p.Ile258=) c.27T>A (p.Ile9=) n.312T>A c.*106-93839A>T (n.*106-93839A>T) c.*380-93839A>T (n.*380-93839A>T) | |
| 4 | g.69098592T>C | CA439737225 | UGT2B11,UGT2B7 | c.774T>C (p.Ile258=) c.27T>C (p.Ile9=) n.312T>C c.*106-93839A>G (n.*106-93839A>G) c.*380-93839A>G (n.*380-93839A>G) | |
| 4 | g.69098592T>G | CA357096758 | UGT2B11,UGT2B7 | c.774T>G (p.Ile258Met) c.27T>G (p.Ile9Met) n.312T>G c.*106-93839A>C (n.*106-93839A>C) c.*380-93839A>C (n.*380-93839A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098592T= | CA1466050293 | UGT2B11,UGT2B7 | c.774T= (p.Ile258=) c.27T= (p.Ile9=) n.312T= c.*106-93839A= (n.*106-93839A=) c.*380-93839A= (n.*380-93839A=) | |
| 4 | g.69098593C>A | CA439737229 | UGT2B11,UGT2B7 | c.775C>A (p.Arg259=) c.28C>A (p.Arg10=) n.313C>A c.*106-93840G>T (n.*106-93840G>T) c.*380-93840G>T (n.*380-93840G>T) | |
| 4 | g.69098593C= | CA1466050294 | UGT2B11,UGT2B7 | c.775C= (p.Arg259=) c.28C= (p.Arg10=) n.313C= c.*106-93840G= (n.*106-93840G=) c.*380-93840G= (n.*380-93840G=) | |
| 4 | g.69098593C>G | CA357096759 | UGT2B11,UGT2B7 | c.775C>G (p.Arg259Gly) c.28C>G (p.Arg10Gly) n.313C>G c.*106-93840G>C (n.*106-93840G>C) c.*380-93840G>C (n.*380-93840G>C) | |
| 4 | g.69098593C>T | CA357096760 | UGT2B11,UGT2B7 | c.775C>T (p.Arg259Ter) c.28C>T (p.Arg10Ter) n.313C>T c.*106-93840G>A (n.*106-93840G>A) c.*380-93840G>A (n.*380-93840G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.69098594G>A | CA2944690 | UGT2B11,UGT2B7 | c.776G>A (p.Arg259Gln) c.29G>A (p.Arg10Gln) n.314G>A c.*106-93841C>T (n.*106-93841C>T) c.*380-93841C>T (n.*380-93841C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098594G>C | CA357096761 | UGT2B11,UGT2B7 | c.776G>C (p.Arg259Pro) c.29G>C (p.Arg10Pro) n.314G>C c.*106-93841C>G (n.*106-93841C>G) c.*380-93841C>G (n.*380-93841C>G) | |
| 4 | g.69098594G= | CA1466050295 | UGT2B11,UGT2B7 | c.776G= (p.Arg259=) c.29G= (p.Arg10=) n.314G= c.*106-93841C= (n.*106-93841C=) c.*380-93841C= (n.*380-93841C=) | |
| 4 | g.69098594G>T | CA2944691 | UGT2B11,UGT2B7 | c.776G>T (p.Arg259Leu) c.29G>T (p.Arg10Leu) n.314G>T c.*106-93841C>A (n.*106-93841C>A) c.*380-93841C>A (n.*380-93841C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098595A>C | CA439737237 | UGT2B11,UGT2B7 | c.777A>C (p.Arg259=) c.30A>C (p.Arg10=) n.315A>C c.*106-93842T>G (n.*106-93842T>G) c.*380-93842T>G (n.*380-93842T>G) | |
| 4 | g.69098595A>G | CA439737240 | UGT2B11,UGT2B7 | c.777A>G (p.Arg259=) c.30A>G (p.Arg10=) n.315A>G c.*106-93842T>C (n.*106-93842T>C) c.*380-93842T>C (n.*380-93842T>C) | |
| 4 | g.69098595A>T | CA439737238 | UGT2B11,UGT2B7 | c.777A>T (p.Arg259=) c.30A>T (p.Arg10=) n.315A>T c.*106-93842T>A (n.*106-93842T>A) c.*380-93842T>A (n.*380-93842T>A) | |
| 4 | g.69098596A= | CA1466050296 | UGT2B11,UGT2B7 | c.778A= (p.Asn260=) c.31A= (p.Asn11=) n.316A= c.*106-93843T= (n.*106-93843T=) c.*380-93843T= (n.*380-93843T=) | |
| 4 | g.69098596A>C | CA357096762 | UGT2B11,UGT2B7 | c.778A>C (p.Asn260His) c.31A>C (p.Asn11His) n.316A>C c.*106-93843T>G (n.*106-93843T>G) c.*380-93843T>G (n.*380-93843T>G) | |
| 4 | g.69098596A>G | CA2944692 | UGT2B11,UGT2B7 | c.778A>G (p.Asn260Asp) c.31A>G (p.Asn11Asp) n.316A>G c.*106-93843T>C (n.*106-93843T>C) c.*380-93843T>C (n.*380-93843T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098596A>T | CA357096763 | UGT2B11,UGT2B7 | c.778A>T (p.Asn260Tyr) c.31A>T (p.Asn11Tyr) n.316A>T c.*106-93843T>A (n.*106-93843T>A) c.*380-93843T>A (n.*380-93843T>A) | |
| 4 | g.69098597A>C | CA357096765 | UGT2B11,UGT2B7 | c.779A>C (p.Asn260Thr) c.32A>C (p.Asn11Thr) n.317A>C c.*106-93844T>G (n.*106-93844T>G) c.*380-93844T>G (n.*380-93844T>G) | |
| 4 | g.69098597A>G | CA357096766 | UGT2B11,UGT2B7 | c.779A>G (p.Asn260Ser) c.32A>G (p.Asn11Ser) n.317A>G c.*106-93844T>C (n.*106-93844T>C) c.*380-93844T>C (n.*380-93844T>C) | |
| 4 | g.69098597A>T | CA357096764 | UGT2B11,UGT2B7 | c.779A>T (p.Asn260Ile) c.32A>T (p.Asn11Ile) n.317A>T c.*106-93844T>A (n.*106-93844T>A) c.*380-93844T>A (n.*380-93844T>A) | |
| 4 | g.69098598C>A | CA357096767 | UGT2B11,UGT2B7 | c.780C>A (p.Asn260Lys) c.33C>A (p.Asn11Lys) n.318C>A c.*106-93845G>T (n.*106-93845G>T) c.*380-93845G>T (n.*380-93845G>T) | |
| 4 | g.69098598C= | CA1466050297 | UGT2B11,UGT2B7 | c.780C= (p.Asn260=) c.33C= (p.Asn11=) n.318C= c.*106-93845G= (n.*106-93845G=) c.*380-93845G= (n.*380-93845G=) | |
| 4 | g.69098598C>G | CA357096768 | UGT2B11,UGT2B7 | c.780C>G (p.Asn260Lys) c.33C>G (p.Asn11Lys) n.318C>G c.*106-93845G>C (n.*106-93845G>C) c.*380-93845G>C (n.*380-93845G>C) | |
| 4 | g.69098598C>T | CA2944693 | UGT2B11,UGT2B7 | c.780C>T (p.Asn260=) c.33C>T (p.Asn11=) n.318C>T c.*106-93845G>A (n.*106-93845G>A) c.*380-93845G>A (n.*380-93845G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098599T>A | CA357096769 | UGT2B11,UGT2B7 | c.781T>A (p.Ser261Thr) c.34T>A (p.Ser12Thr) n.319T>A c.*106-93846A>T (n.*106-93846A>T) c.*380-93846A>T (n.*380-93846A>T) | |
| 4 | g.69098599T>C | CA357096770 | UGT2B11,UGT2B7 | c.781T>C (p.Ser261Pro) c.34T>C (p.Ser12Pro) n.319T>C c.*106-93846A>G (n.*106-93846A>G) c.*380-93846A>G (n.*380-93846A>G) | gnomAD v4 |
| 4 | g.69098599T>G | CA357096771 | UGT2B11,UGT2B7 | c.781T>G (p.Ser261Ala) c.34T>G (p.Ser12Ala) n.319T>G c.*106-93846A>C (n.*106-93846A>C) c.*380-93846A>C (n.*380-93846A>C) | |
| 4 | g.69098600C>A | CA357096772 | UGT2B11,UGT2B7 | c.782C>A (p.Ser261Tyr) c.35C>A (p.Ser12Tyr) n.320C>A c.*106-93847G>T (n.*106-93847G>T) c.*380-93847G>T (n.*380-93847G>T) | gnomAD v4 |
| 4 | g.69098600C>G | CA357096773 | UGT2B11,UGT2B7 | c.782C>G (p.Ser261Cys) c.35C>G (p.Ser12Cys) n.320C>G c.*106-93847G>C (n.*106-93847G>C) c.*380-93847G>C (n.*380-93847G>C) | |
| 4 | g.69098600C>T | CA357096774 | UGT2B11,UGT2B7 | c.782C>T (p.Ser261Phe) c.35C>T (p.Ser12Phe) n.320C>T c.*106-93847G>A (n.*106-93847G>A) c.*380-93847G>A (n.*380-93847G>A) | gnomAD v4 |
| 4 | g.69098601C>A | CA439737269 | UGT2B11,UGT2B7 | c.783C>A (p.Ser261=) c.36C>A (p.Ser12=) n.321C>A c.*106-93848G>T (n.*106-93848G>T) c.*380-93848G>T (n.*380-93848G>T) | |
| 4 | g.69098601C>G | CA439737271 | UGT2B11,UGT2B7 | c.783C>G (p.Ser261=) c.36C>G (p.Ser12=) n.321C>G c.*106-93848G>C (n.*106-93848G>C) c.*380-93848G>C (n.*380-93848G>C) | |
| 4 | g.69098601C>T | CA439737274 | UGT2B11,UGT2B7 | c.783C>T (p.Ser261=) c.36C>T (p.Ser12=) n.321C>T c.*106-93848G>A (n.*106-93848G>A) c.*380-93848G>A (n.*380-93848G>A) | |
| 4 | g.69098602T>A | CA357096775 | UGT2B11,UGT2B7 | c.784T>A (p.Trp262Arg) c.37T>A (p.Trp13Arg) n.322T>A c.*106-93849A>T (n.*106-93849A>T) c.*380-93849A>T (n.*380-93849A>T) | |
| 4 | g.69098602T>C | CA357096776 | UGT2B11,UGT2B7 | c.784T>C (p.Trp262Arg) c.37T>C (p.Trp13Arg) n.322T>C c.*106-93849A>G (n.*106-93849A>G) c.*380-93849A>G (n.*380-93849A>G) | |
| 4 | g.69098602T>G | CA357096777 | UGT2B11,UGT2B7 | c.784T>G (p.Trp262Gly) c.37T>G (p.Trp13Gly) n.322T>G c.*106-93849A>C (n.*106-93849A>C) c.*380-93849A>C (n.*380-93849A>C) | |
| 4 | g.69098603G>A | CA357096779 | UGT2B11,UGT2B7 | c.785G>A (p.Trp262Ter) c.38G>A (p.Trp13Ter) n.323G>A c.*106-93850C>T (n.*106-93850C>T) c.*380-93850C>T (n.*380-93850C>T) | gnomAD v4 |
| 4 | g.69098603G>C | CA357096780 | UGT2B11,UGT2B7 | c.785G>C (p.Trp262Ser) c.38G>C (p.Trp13Ser) n.323G>C c.*106-93850C>G (n.*106-93850C>G) c.*380-93850C>G (n.*380-93850C>G) | |
| 4 | g.69098603G>T | CA357096778 | UGT2B11,UGT2B7 | c.785G>T (p.Trp262Leu) c.38G>T (p.Trp13Leu) n.323G>T c.*106-93850C>A (n.*106-93850C>A) c.*380-93850C>A (n.*380-93850C>A) | |
| 4 | g.69098604G>A | CA357096781 | UGT2B11,UGT2B7 | c.786G>A (p.Trp262Ter) c.39G>A (p.Trp13Ter) n.324G>A c.*106-93851C>T (n.*106-93851C>T) c.*380-93851C>T (n.*380-93851C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.69098604G>C | CA357096782 | UGT2B11,UGT2B7 | c.786G>C (p.Trp262Cys) c.39G>C (p.Trp13Cys) n.324G>C c.*106-93851C>G (n.*106-93851C>G) c.*380-93851C>G (n.*380-93851C>G) | |
| 4 | g.69098604G= | CA1466050298 | UGT2B11,UGT2B7 | c.786G= (p.Trp262=) c.39G= (p.Trp13=) n.324G= c.*106-93851C= (n.*106-93851C=) c.*380-93851C= (n.*380-93851C=) | |
| 4 | g.69098604G>T | CA357096783 | UGT2B11,UGT2B7 | c.786G>T (p.Trp262Cys) c.39G>T (p.Trp13Cys) n.324G>T c.*106-93851C>A (n.*106-93851C>A) c.*380-93851C>A (n.*380-93851C>A) | |
| 4 | g.69098605A>C | CA357096784 | UGT2B11,UGT2B7 | c.787A>C (p.Asn263His) c.40A>C (p.Asn14His) n.325A>C c.*106-93852T>G (n.*106-93852T>G) c.*380-93852T>G (n.*380-93852T>G) | |
| 4 | g.69098605A>G | CA357096785 | UGT2B11,UGT2B7 | c.787A>G (p.Asn263Asp) c.40A>G (p.Asn14Asp) n.325A>G c.*106-93852T>C (n.*106-93852T>C) c.*380-93852T>C (n.*380-93852T>C) | |
| 4 | g.69098605A>T | CA357096786 | UGT2B11,UGT2B7 | c.787A>T (p.Asn263Tyr) c.40A>T (p.Asn14Tyr) n.325A>T c.*106-93852T>A (n.*106-93852T>A) c.*380-93852T>A (n.*380-93852T>A) | |
| 4 | g.69098606A>C | CA357096787 | UGT2B11,UGT2B7 | c.788A>C (p.Asn263Thr) c.41A>C (p.Asn14Thr) n.326A>C c.*106-93853T>G (n.*106-93853T>G) c.*380-93853T>G (n.*380-93853T>G) | |
| 4 | g.69098606A>G | CA357096789 | UGT2B11,UGT2B7 | c.788A>G (p.Asn263Ser) c.41A>G (p.Asn14Ser) n.326A>G c.*106-93853T>C (n.*106-93853T>C) c.*380-93853T>C (n.*380-93853T>C) | |
| 4 | g.69098606A>T | CA357096788 | UGT2B11,UGT2B7 | c.788A>T (p.Asn263Ile) c.41A>T (p.Asn14Ile) n.326A>T c.*106-93853T>A (n.*106-93853T>A) c.*380-93853T>A (n.*380-93853T>A) | |
| 4 | g.69098607T>A | CA357096790 | UGT2B11,UGT2B7 | c.789T>A (p.Asn263Lys) c.42T>A (p.Asn14Lys) n.327T>A c.*106-93854A>T (n.*106-93854A>T) c.*380-93854A>T (n.*380-93854A>T) | |
| 4 | g.69098607T>C | CA439737298 | UGT2B11,UGT2B7 | c.789T>C (p.Asn263=) c.42T>C (p.Asn14=) n.327T>C c.*106-93854A>G (n.*106-93854A>G) c.*380-93854A>G (n.*380-93854A>G) | |
| 4 | g.69098607T>G | CA357096791 | UGT2B11,UGT2B7 | c.789T>G (p.Asn263Lys) c.42T>G (p.Asn14Lys) n.327T>G c.*106-93854A>C (n.*106-93854A>C) c.*380-93854A>C (n.*380-93854A>C) | |
| 4 | g.69098608T>A | CA357096792 | UGT2B11,UGT2B7 | c.790T>A (p.Phe264Ile) c.43T>A (p.Phe15Ile) n.328T>A c.*106-93855A>T (n.*106-93855A>T) c.*380-93855A>T (n.*380-93855A>T) | |
| 4 | g.69098608T>C | CA357096793 | UGT2B11,UGT2B7 | c.790T>C (p.Phe264Leu) c.43T>C (p.Phe15Leu) n.328T>C c.*106-93855A>G (n.*106-93855A>G) c.*380-93855A>G (n.*380-93855A>G) | |
| 4 | g.69098608T>G | CA357096794 | UGT2B11,UGT2B7 | c.790T>G (p.Phe264Val) c.43T>G (p.Phe15Val) n.328T>G c.*106-93855A>C (n.*106-93855A>C) c.*380-93855A>C (n.*380-93855A>C) | |
| 4 | g.69098609T>A | CA357096796 | UGT2B11,UGT2B7 | c.791T>A (p.Phe264Tyr) c.44T>A (p.Phe15Tyr) n.329T>A c.*106-93856A>T (n.*106-93856A>T) c.*380-93856A>T (n.*380-93856A>T) | |
| 4 | g.69098609T>C | CA357096797 | UGT2B11,UGT2B7 | c.791T>C (p.Phe264Ser) c.44T>C (p.Phe15Ser) n.329T>C c.*106-93856A>G (n.*106-93856A>G) c.*380-93856A>G (n.*380-93856A>G) | |
| 4 | g.69098609T>G | CA357096795 | UGT2B11,UGT2B7 | c.791T>G (p.Phe264Cys) c.44T>G (p.Phe15Cys) n.329T>G c.*106-93856A>C (n.*106-93856A>C) c.*380-93856A>C (n.*380-93856A>C) | |
| 4 | g.69098610T>A | CA357096799 | UGT2B11,UGT2B7 | c.792T>A (p.Phe264Leu) c.45T>A (p.Phe15Leu) n.330T>A c.*106-93857A>T (n.*106-93857A>T) c.*380-93857A>T (n.*380-93857A>T) | |
| 4 | g.69098610T>C | CA439737314 | UGT2B11,UGT2B7 | c.792T>C (p.Phe264=) c.45T>C (p.Phe15=) n.330T>C c.*106-93857A>G (n.*106-93857A>G) c.*380-93857A>G (n.*380-93857A>G) | |
| 4 | g.69098610T>G | CA357096798 | UGT2B11,UGT2B7 | c.792T>G (p.Phe264Leu) c.45T>G (p.Phe15Leu) n.330T>G c.*106-93857A>C (n.*106-93857A>C) c.*380-93857A>C (n.*380-93857A>C) | |
| 4 | g.69098611C>A | CA2944694 | UGT2B11,UGT2B7 | c.793C>A (p.Gln265Lys) c.46C>A (p.Gln16Lys) n.331C>A c.*106-93858G>T (n.*106-93858G>T) c.*380-93858G>T (n.*380-93858G>T) | dbSNP ExAC gnomAD v2 |
| 4 | g.69098611C= | CA1466050299 | UGT2B11,UGT2B7 | c.793C= (p.Gln265=) c.46C= (p.Gln16=) n.331C= c.*106-93858G= (n.*106-93858G=) c.*380-93858G= (n.*380-93858G=) | |
| 4 | g.69098611C>G | CA357096800 | UGT2B11,UGT2B7 | c.793C>G (p.Gln265Glu) c.46C>G (p.Gln16Glu) n.331C>G c.*106-93858G>C (n.*106-93858G>C) c.*380-93858G>C (n.*380-93858G>C) | |
| 4 | g.69098611C>T | CA357096801 | UGT2B11,UGT2B7 | c.793C>T (p.Gln265Ter) c.46C>T (p.Gln16Ter) n.331C>T c.*106-93858G>A (n.*106-93858G>A) c.*380-93858G>A (n.*380-93858G>A) | |
| 4 | g.69098612A>C | CA357096802 | UGT2B11,UGT2B7 | c.794A>C (p.Gln265Pro) c.47A>C (p.Gln16Pro) n.332A>C c.*106-93859T>G (n.*106-93859T>G) c.*380-93859T>G (n.*380-93859T>G) | |
| 4 | g.69098612A>G | CA357096804 | UGT2B11,UGT2B7 | c.794A>G (p.Gln265Arg) c.47A>G (p.Gln16Arg) n.332A>G c.*106-93859T>C (n.*106-93859T>C) c.*380-93859T>C (n.*380-93859T>C) | |
| 4 | g.69098612A>T | CA357096803 | UGT2B11,UGT2B7 | c.794A>T (p.Gln265Leu) c.47A>T (p.Gln16Leu) n.332A>T c.*106-93859T>A (n.*106-93859T>A) c.*380-93859T>A (n.*380-93859T>A) | |
| 4 | g.69098613G>A | CA2944695 | UGT2B11,UGT2B7 | c.795G>A (p.Gln265=) c.48G>A (p.Gln16=) n.333G>A c.*106-93860C>T (n.*106-93860C>T) c.*380-93860C>T (n.*380-93860C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098613G>C | CA357096805 | UGT2B11,UGT2B7 | c.795G>C (p.Gln265His) c.48G>C (p.Gln16His) n.333G>C c.*106-93860C>G (n.*106-93860C>G) c.*380-93860C>G (n.*380-93860C>G) | ClinVar dbSNP |
| 4 | g.69098613G= | CA1466050300 | UGT2B11,UGT2B7 | c.795G= (p.Gln265=) c.48G= (p.Gln16=) n.333G= c.*106-93860C= (n.*106-93860C=) c.*380-93860C= (n.*380-93860C=) | |
| 4 | g.69098613G>T | CA357096806 | UGT2B11,UGT2B7 | c.795G>T (p.Gln265His) c.48G>T (p.Gln16His) n.333G>T c.*106-93860C>A (n.*106-93860C>A) c.*380-93860C>A (n.*380-93860C>A) | |
| 4 | g.69098614T>A | CA357096807 | UGT2B11,UGT2B7 | c.796T>A (p.Phe266Ile) c.49T>A (p.Phe17Ile) n.334T>A c.*106-93861A>T (n.*106-93861A>T) c.*380-93861A>T (n.*380-93861A>T) | |
| 4 | g.69098614T>C | CA357096808 | UGT2B11,UGT2B7 | c.796T>C (p.Phe266Leu) c.49T>C (p.Phe17Leu) n.334T>C c.*106-93861A>G (n.*106-93861A>G) c.*380-93861A>G (n.*380-93861A>G) | gnomAD v4 |
| 4 | g.69098614T>G | CA357096809 | UGT2B11,UGT2B7 | c.796T>G (p.Phe266Val) c.49T>G (p.Phe17Val) n.334T>G c.*106-93861A>C (n.*106-93861A>C) c.*380-93861A>C (n.*380-93861A>C) | |
| 4 | g.69098615T>A | CA357096810 | UGT2B11,UGT2B7 | c.797T>A (p.Phe266Tyr) c.50T>A (p.Phe17Tyr) n.335T>A c.*106-93862A>T (n.*106-93862A>T) c.*380-93862A>T (n.*380-93862A>T) | |
| 4 | g.69098615T>C | CA357096811 | UGT2B11,UGT2B7 | c.797T>C (p.Phe266Ser) c.50T>C (p.Phe17Ser) n.335T>C c.*106-93862A>G (n.*106-93862A>G) c.*380-93862A>G (n.*380-93862A>G) | |
| 4 | g.69098615T>G | CA357096812 | UGT2B11,UGT2B7 | c.797T>G (p.Phe266Cys) c.50T>G (p.Phe17Cys) n.335T>G c.*106-93862A>C (n.*106-93862A>C) c.*380-93862A>C (n.*380-93862A>C) | |
| 4 | g.69098616T>A | CA357096813 | UGT2B11,UGT2B7 | c.798T>A (p.Phe266Leu) c.51T>A (p.Phe17Leu) n.336T>A c.*106-93863A>T (n.*106-93863A>T) c.*380-93863A>T (n.*380-93863A>T) | |
| 4 | g.69098616T>C | CA439737344 | UGT2B11,UGT2B7 | c.798T>C (p.Phe266=) c.51T>C (p.Phe17=) n.336T>C c.*106-93863A>G (n.*106-93863A>G) c.*380-93863A>G (n.*380-93863A>G) | |
| 4 | g.69098616T>G | CA357096814 | UGT2B11,UGT2B7 | c.798T>G (p.Phe266Leu) c.51T>G (p.Phe17Leu) n.336T>G c.*106-93863A>C (n.*106-93863A>C) c.*380-93863A>C (n.*380-93863A>C) | |
| 4 | g.69098617C>A | CA2944696 | UGT2B11,UGT2B7 | c.799C>A (p.Pro267Thr) c.52C>A (p.Pro18Thr) n.337C>A c.*106-93864G>T (n.*106-93864G>T) c.*380-93864G>T (n.*380-93864G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098617C= | CA1466050301 | UGT2B11,UGT2B7 | c.799C= (p.Pro267=) c.52C= (p.Pro18=) n.337C= c.*106-93864G= (n.*106-93864G=) c.*380-93864G= (n.*380-93864G=) | |
| 4 | g.69098617C>G | CA357096815 | UGT2B11,UGT2B7 | c.799C>G (p.Pro267Ala) c.52C>G (p.Pro18Ala) n.337C>G c.*106-93864G>C (n.*106-93864G>C) c.*380-93864G>C (n.*380-93864G>C) | |
| 4 | g.69098617C>T | CA357096816 | UGT2B11,UGT2B7 | c.799C>T (p.Pro267Ser) c.52C>T (p.Pro18Ser) n.337C>T c.*106-93864G>A (n.*106-93864G>A) c.*380-93864G>A (n.*380-93864G>A) | dbSNP COSMIC |
| 4 | g.69098618C>A | CA357096817 | UGT2B11,UGT2B7 | c.800C>A (p.Pro267Gln) c.53C>A (p.Pro18Gln) n.338C>A c.*106-93865G>T (n.*106-93865G>T) c.*380-93865G>T (n.*380-93865G>T) | |
| 4 | g.69098618C= | CA1466050302 | UGT2B11,UGT2B7 | c.800C= (p.Pro267=) c.53C= (p.Pro18=) n.338C= c.*106-93865G= (n.*106-93865G=) c.*380-93865G= (n.*380-93865G=) | |
| 4 | g.69098618C>G | CA357096818 | UGT2B11,UGT2B7 | c.800C>G (p.Pro267Arg) c.53C>G (p.Pro18Arg) n.338C>G c.*106-93865G>C (n.*106-93865G>C) c.*380-93865G>C (n.*380-93865G>C) | |
| 4 | g.69098618C>T | CA2944697 | UGT2B11,UGT2B7 | c.800C>T (p.Pro267Leu) c.53C>T (p.Pro18Leu) n.338C>T c.*106-93865G>A (n.*106-93865G>A) c.*380-93865G>A (n.*380-93865G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098618_69098619insTC | CA2706296386 | UGT2B11,UGT2B7 | c.800_801insTC (p.Tyr268HisfsTer?) c.53_54insTC (p.Tyr19HisfsTer?) n.338_339insTC c.*106-93865_*106-93864insAG (n.*106-93865_*106-93864insAG) c.*380-93865_*380-93864insAG (n.*380-93865_*380-93864insAG) | dbSNP |
| 4 | g.69098618_69098619del | CA2670857154 | UGT2B11,UGT2B7 | c.800_801del (p.Pro267LeufsTer8) c.53_54del (p.Pro18LeufsTer8) n.338_339del c.*106-93866_*106-93865del (n.*106-93866_*106-93865del) c.*380-93866_*380-93865del (n.*380-93866_*380-93865del) | gnomAD v4 |
| 4 | g.69098618_69098619delinsCA | CA1466050303 | UGT2B11,UGT2B7 | c.800_801delinsCA (p.Pro267=) c.53_54delinsCA (p.Pro18=) n.338_339delinsCA c.*106-93866_*106-93865delinsTG (n.*106-93866_*106-93865delinsTG) c.*380-93866_*380-93865delinsTG (n.*380-93866_*380-93865delinsTG) | |
| 4 | g.69098618_69098620delinsCAT | CA1466050304 | UGT2B11,UGT2B7 | c.800_802delinsCAT (p.Pro267=) c.53_55delinsCAT (p.Pro18=) n.338_340delinsCAT c.*106-93867_*106-93865delinsATG (n.*106-93867_*106-93865delinsATG) c.*380-93867_*380-93865delinsATG (n.*380-93867_*380-93865delinsATG) | |
| 4 | g.69098619del | CA98844861 | UGT2B11,UGT2B7 | c.801del (p.Tyr268IlefsTer?) c.54del (p.Tyr19IlefsTer?) n.339del c.*106-93866del (n.*106-93866del) c.*380-93866del (n.*380-93866del) | dbSNP |
| 4 | g.69098619A= | CA1466050305 | UGT2B11,UGT2B7 | c.801A= (p.Pro267=) c.54A= (p.Pro18=) n.339A= c.*106-93866T= (n.*106-93866T=) c.*380-93866T= (n.*380-93866T=) | |
| 4 | g.69098619A>C | CA439737362 | UGT2B11,UGT2B7 | c.801A>C (p.Pro267=) c.54A>C (p.Pro18=) n.339A>C c.*106-93866T>G (n.*106-93866T>G) c.*380-93866T>G (n.*380-93866T>G) | dbSNP gnomAD v4 |
| 4 | g.69098619A>G | CA439737364 | UGT2B11,UGT2B7 | c.801A>G (p.Pro267=) c.54A>G (p.Pro18=) n.339A>G c.*106-93866T>C (n.*106-93866T>C) c.*380-93866T>C (n.*380-93866T>C) | |
| 4 | g.69098619A>T | CA2944698 | UGT2B11,UGT2B7 | c.801A>T (p.Pro267=) c.54A>T (p.Pro18=) n.339A>T c.*106-93866T>A (n.*106-93866T>A) c.*380-93866T>A (n.*380-93866T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098619_69098620delinsC | CA98844862 | UGT2B11,UGT2B7 | c.801_802delinsC (p.Tyr268IlefsTer?) c.54_55delinsC (p.Tyr19IlefsTer?) n.339_340delinsC c.*106-93867_*106-93866delinsG (n.*106-93867_*106-93866delinsG) c.*380-93867_*380-93866delinsG (n.*380-93867_*380-93866delinsG) | dbSNP |
| 4 | g.69098619_69098620delinsAT | CA1466050306 | UGT2B11,UGT2B7 | c.801_802delinsAT (p.Pro267=) c.54_55delinsAT (p.Pro18=) n.339_340delinsAT c.*106-93867_*106-93866delinsAT (n.*106-93867_*106-93866delinsAT) c.*380-93867_*380-93866delinsAT (n.*380-93867_*380-93866delinsAT) | |
| 4 | g.69098619_69098620delinsTC | CA98844870 | UGT2B11,UGT2B7 | c.801_802delinsTC (p.Tyr268His) c.54_55delinsTC (p.Tyr19His) n.339_340delinsTC c.*106-93867_*106-93866delinsGA (n.*106-93867_*106-93866delinsGA) c.*380-93867_*380-93866delinsGA (n.*380-93867_*380-93866delinsGA) | dbSNP |
| 4 | g.69098620T>A | CA357096819 | UGT2B11,UGT2B7 | c.802T>A (p.Tyr268Asn) c.55T>A (p.Tyr19Asn) n.340T>A c.*106-93867A>T (n.*106-93867A>T) c.*380-93867A>T (n.*380-93867A>T) | |
| 4 | g.69098620T>C | CA2944699 | UGT2B11,UGT2B7 | c.802T>C (p.Tyr268His) c.55T>C (p.Tyr19His) n.340T>C c.*106-93867A>G (n.*106-93867A>G) c.*380-93867A>G (n.*380-93867A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098620T>G | CA357096820 | UGT2B11,UGT2B7 | c.802T>G (p.Tyr268Asp) c.55T>G (p.Tyr19Asp) n.340T>G c.*106-93867A>C (n.*106-93867A>C) c.*380-93867A>C (n.*380-93867A>C) | |
| 4 | g.69098620T= | CA1466050307 | UGT2B11,UGT2B7 | c.802T= (p.Tyr268=) c.55T= (p.Tyr19=) n.340T= c.*106-93867A= (n.*106-93867A=) c.*380-93867A= (n.*380-93867A=) | |
| 4 | g.69098620_69098621insTC | CA2670857155 | UGT2B11,UGT2B7 | c.802_803insTC (p.Tyr268PhefsTer?) c.55_56insTC (p.Tyr19PhefsTer?) n.340_341insTC c.*106-93868_*106-93867insGA (n.*106-93868_*106-93867insGA) c.*380-93868_*380-93867insGA (n.*380-93868_*380-93867insGA) | gnomAD v4 |
| 4 | g.69098621A>C | CA357096821 | UGT2B11,UGT2B7 | c.803A>C (p.Tyr268Ser) c.56A>C (p.Tyr19Ser) n.341A>C c.*106-93868T>G (n.*106-93868T>G) c.*380-93868T>G (n.*380-93868T>G) | |
| 4 | g.69098621A>G | CA357096822 | UGT2B11,UGT2B7 | c.803A>G (p.Tyr268Cys) c.56A>G (p.Tyr19Cys) n.341A>G c.*106-93868T>C (n.*106-93868T>C) c.*380-93868T>C (n.*380-93868T>C) | |
| 4 | g.69098621A>T | CA357096823 | UGT2B11,UGT2B7 | c.803A>T (p.Tyr268Phe) c.56A>T (p.Tyr19Phe) n.341A>T c.*106-93868T>A (n.*106-93868T>A) c.*380-93868T>A (n.*380-93868T>A) | |
| 4 | g.69098622T>A | CA357096825 | UGT2B11,UGT2B7 | c.804T>A (p.Tyr268Ter) c.57T>A (p.Tyr19Ter) n.342T>A c.*106-93869A>T (n.*106-93869A>T) c.*380-93869A>T (n.*380-93869A>T) | |
| 4 | g.69098622T>C | CA439737382 | UGT2B11,UGT2B7 | c.804T>C (p.Tyr268=) c.57T>C (p.Tyr19=) n.342T>C c.*106-93869A>G (n.*106-93869A>G) c.*380-93869A>G (n.*380-93869A>G) | |
| 4 | g.69098622T>G | CA357096824 | UGT2B11,UGT2B7 | c.804T>G (p.Tyr268Ter) c.57T>G (p.Tyr19Ter) n.342T>G c.*106-93869A>C (n.*106-93869A>C) c.*380-93869A>C (n.*380-93869A>C) | |
| 4 | g.69098623C>A | CA357096826 | UGT2B11,UGT2B7 | c.805C>A (p.Pro269Thr) c.58C>A (p.Pro20Thr) n.343C>A c.*106-93870G>T (n.*106-93870G>T) c.*380-93870G>T (n.*380-93870G>T) | gnomAD v4 |
| 4 | g.69098623C= | CA1466050308 | UGT2B11,UGT2B7 | c.805C= (p.Pro269=) c.58C= (p.Pro20=) n.343C= c.*106-93870G= (n.*106-93870G=) c.*380-93870G= (n.*380-93870G=) | |
| 4 | g.69098623C>G | CA357096827 | UGT2B11,UGT2B7 | c.805C>G (p.Pro269Ala) c.58C>G (p.Pro20Ala) n.343C>G c.*106-93870G>C (n.*106-93870G>C) c.*380-93870G>C (n.*380-93870G>C) | |
| 4 | g.69098623C>T | CA357096828 | UGT2B11,UGT2B7 | c.805C>T (p.Pro269Ser) c.58C>T (p.Pro20Ser) n.343C>T c.*106-93870G>A (n.*106-93870G>A) c.*380-93870G>A (n.*380-93870G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098624C>A | CA357096829 | UGT2B11,UGT2B7 | c.806C>A (p.Pro269Gln) c.59C>A (p.Pro20Gln) n.344C>A c.*106-93871G>T (n.*106-93871G>T) c.*380-93871G>T (n.*380-93871G>T) | |
| 4 | g.69098624C>G | CA357096830 | UGT2B11,UGT2B7 | c.806C>G (p.Pro269Arg) c.59C>G (p.Pro20Arg) n.344C>G c.*106-93871G>C (n.*106-93871G>C) c.*380-93871G>C (n.*380-93871G>C) | |
| 4 | g.69098624C>T | CA357096831 | UGT2B11,UGT2B7 | c.806C>T (p.Pro269Leu) c.59C>T (p.Pro20Leu) n.344C>T c.*106-93871G>A (n.*106-93871G>A) c.*380-93871G>A (n.*380-93871G>A) | |
| 4 | g.69098625A>C | CA439737396 | UGT2B11,UGT2B7 | c.807A>C (p.Pro269=) c.60A>C (p.Pro20=) n.345A>C c.*106-93872T>G (n.*106-93872T>G) c.*380-93872T>G (n.*380-93872T>G) | |
| 4 | g.69098625A>G | CA439737397 | UGT2B11,UGT2B7 | c.807A>G (p.Pro269=) c.60A>G (p.Pro20=) n.345A>G c.*106-93872T>C (n.*106-93872T>C) c.*380-93872T>C (n.*380-93872T>C) | |
| 4 | g.69098625A>T | CA439737398 | UGT2B11,UGT2B7 | c.807A>T (p.Pro269=) c.60A>T (p.Pro20=) n.345A>T c.*106-93872T>A (n.*106-93872T>A) c.*380-93872T>A (n.*380-93872T>A) | |
| 4 | g.69098626C>A | CA357096833 | UGT2B11,UGT2B7 | c.808C>A (p.Leu270Ile) c.61C>A (p.Leu21Ile) n.346C>A c.*106-93873G>T (n.*106-93873G>T) c.*380-93873G>T (n.*380-93873G>T) | |
| 4 | g.69098626C= | CA1466050309 | UGT2B11,UGT2B7 | c.808C= (p.Leu270=) c.61C= (p.Leu21=) n.346C= c.*106-93873G= (n.*106-93873G=) c.*380-93873G= (n.*380-93873G=) | |
| 4 | g.69098626C>G | CA357096832 | UGT2B11,UGT2B7 | c.808C>G (p.Leu270Val) c.61C>G (p.Leu21Val) n.346C>G c.*106-93873G>C (n.*106-93873G>C) c.*380-93873G>C (n.*380-93873G>C) | |
| 4 | g.69098626C>T | CA2944700 | UGT2B11,UGT2B7 | c.808C>T (p.Leu270Phe) c.61C>T (p.Leu21Phe) n.346C>T c.*106-93873G>A (n.*106-93873G>A) c.*380-93873G>A (n.*380-93873G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098627T>A | CA357096834 | UGT2B11,UGT2B7 | c.809T>A (p.Leu270His) c.62T>A (p.Leu21His) n.347T>A c.*106-93874A>T (n.*106-93874A>T) c.*380-93874A>T (n.*380-93874A>T) | |
| 4 | g.69098627T>C | CA357096835 | UGT2B11,UGT2B7 | c.809T>C (p.Leu270Pro) c.62T>C (p.Leu21Pro) n.347T>C c.*106-93874A>G (n.*106-93874A>G) c.*380-93874A>G (n.*380-93874A>G) | |
| 4 | g.69098627T>G | CA357096836 | UGT2B11,UGT2B7 | c.809T>G (p.Leu270Arg) c.62T>G (p.Leu21Arg) n.347T>G c.*106-93874A>C (n.*106-93874A>C) c.*380-93874A>C (n.*380-93874A>C) | |
| 4 | g.69098628C>A | CA439737415 | UGT2B11,UGT2B7 | c.810C>A (p.Leu270=) c.63C>A (p.Leu21=) n.348C>A c.*106-93875G>T (n.*106-93875G>T) c.*380-93875G>T (n.*380-93875G>T) | |
| 4 | g.69098628C>G | CA439737413 | UGT2B11,UGT2B7 | c.810C>G (p.Leu270=) c.63C>G (p.Leu21=) n.348C>G c.*106-93875G>C (n.*106-93875G>C) c.*380-93875G>C (n.*380-93875G>C) | |
| 4 | g.69098628C>T | CA439737412 | UGT2B11,UGT2B7 | c.810C>T (p.Leu270=) c.63C>T (p.Leu21=) n.348C>T c.*106-93875G>A (n.*106-93875G>A) c.*380-93875G>A (n.*380-93875G>A) | |
| 4 | g.69098629T>A | CA357096837 | UGT2B11,UGT2B7 | c.811T>A (p.Leu271Ile) c.64T>A (p.Leu22Ile) n.349T>A c.*106-93876A>T (n.*106-93876A>T) c.*380-93876A>T (n.*380-93876A>T) | |
| 4 | g.69098629T>C | CA439737418 | UGT2B11,UGT2B7 | c.811T>C (p.Leu271=) c.64T>C (p.Leu22=) n.349T>C c.*106-93876A>G (n.*106-93876A>G) c.*380-93876A>G (n.*380-93876A>G) | |
| 4 | g.69098629T>G | CA357096838 | UGT2B11,UGT2B7 | c.811T>G (p.Leu271Val) c.64T>G (p.Leu22Val) n.349T>G c.*106-93876A>C (n.*106-93876A>C) c.*380-93876A>C (n.*380-93876A>C) | |
| 4 | g.69098631_69098640del | CA2670857156 | UGT2B11,UGT2B7 | c.813_822del (p.Pro272IlefsTer?) c.66_75del (p.Pro23IlefsTer?) n.351_360del c.*106-93885_*106-93876del (n.*106-93885_*106-93876del) c.*380-93885_*380-93876del (n.*380-93885_*380-93876del) | gnomAD v4 |
| 4 | g.69098630T>A | CA357096839 | UGT2B11,UGT2B7 | c.812T>A (p.Leu271Ter) c.65T>A (p.Leu22Ter) n.350T>A c.*106-93877A>T (n.*106-93877A>T) c.*380-93877A>T (n.*380-93877A>T) | |
| 4 | g.69098630T>C | CA357096841 | UGT2B11,UGT2B7 | c.812T>C (p.Leu271Ser) c.65T>C (p.Leu22Ser) n.350T>C c.*106-93877A>G (n.*106-93877A>G) c.*380-93877A>G (n.*380-93877A>G) | gnomAD v4 |
| 4 | g.69098630T>G | CA357096840 | UGT2B11,UGT2B7 | c.812T>G (p.Leu271Ter) c.65T>G (p.Leu22Ter) n.350T>G c.*106-93877A>C (n.*106-93877A>C) c.*380-93877A>C (n.*380-93877A>C) | |
| 4 | g.69098631A>C | CA357096842 | UGT2B11,UGT2B7 | c.813A>C (p.Leu271Phe) c.66A>C (p.Leu22Phe) n.351A>C c.*106-93878T>G (n.*106-93878T>G) c.*380-93878T>G (n.*380-93878T>G) | |
| 4 | g.69098631A>G | CA439737427 | UGT2B11,UGT2B7 | c.813A>G (p.Leu271=) c.66A>G (p.Leu22=) n.351A>G c.*106-93878T>C (n.*106-93878T>C) c.*380-93878T>C (n.*380-93878T>C) | gnomAD v4 |
| 4 | g.69098631A>T | CA357096843 | UGT2B11,UGT2B7 | c.813A>T (p.Leu271Phe) c.66A>T (p.Leu22Phe) n.351A>T c.*106-93878T>A (n.*106-93878T>A) c.*380-93878T>A (n.*380-93878T>A) | |
| 4 | g.69098632C>A | CA357096844 | UGT2B11,UGT2B7 | c.814C>A (p.Pro272Thr) c.67C>A (p.Pro23Thr) n.352C>A c.*106-93879G>T (n.*106-93879G>T) c.*380-93879G>T (n.*380-93879G>T) | gnomAD v4 |
| 4 | g.69098632C= | CA1466050310 | UGT2B11,UGT2B7 | c.814C= (p.Pro272=) c.67C= (p.Pro23=) n.352C= c.*106-93879G= (n.*106-93879G=) c.*380-93879G= (n.*380-93879G=) | |
| 4 | g.69098632C>G | CA357096845 | UGT2B11,UGT2B7 | c.814C>G (p.Pro272Ala) c.67C>G (p.Pro23Ala) n.352C>G c.*106-93879G>C (n.*106-93879G>C) c.*380-93879G>C (n.*380-93879G>C) | dbSNP |
| 4 | g.69098632C>T | CA2944701 | UGT2B11,UGT2B7 | c.814C>T (p.Pro272Ser) c.67C>T (p.Pro23Ser) n.352C>T c.*106-93879G>A (n.*106-93879G>A) c.*380-93879G>A (n.*380-93879G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098633C>A | CA2944702 | UGT2B11,UGT2B7 | c.815C>A (p.Pro272Gln) c.68C>A (p.Pro23Gln) n.353C>A c.*106-93880G>T (n.*106-93880G>T) c.*380-93880G>T (n.*380-93880G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098633C= | CA1466050311 | UGT2B11,UGT2B7 | c.815C= (p.Pro272=) c.68C= (p.Pro23=) n.353C= c.*106-93880G= (n.*106-93880G=) c.*380-93880G= (n.*380-93880G=) | |
| 4 | g.69098633C>G | CA357096846 | UGT2B11,UGT2B7 | c.815C>G (p.Pro272Arg) c.68C>G (p.Pro23Arg) n.353C>G c.*106-93880G>C (n.*106-93880G>C) c.*380-93880G>C (n.*380-93880G>C) | |
| 4 | g.69098633C>T | CA357096847 | UGT2B11,UGT2B7 | c.815C>T (p.Pro272Leu) c.68C>T (p.Pro23Leu) n.353C>T c.*106-93880G>A (n.*106-93880G>A) c.*380-93880G>A (n.*380-93880G>A) | ClinVar dbSNP |
| 4 | g.69098634A>C | CA439737442 | UGT2B11,UGT2B7 | c.816A>C (p.Pro272=) c.69A>C (p.Pro23=) n.354A>C c.*106-93881T>G (n.*106-93881T>G) c.*380-93881T>G (n.*380-93881T>G) | |
| 4 | g.69098634A>G | CA439737445 | UGT2B11,UGT2B7 | c.816A>G (p.Pro272=) c.69A>G (p.Pro23=) n.354A>G c.*106-93881T>C (n.*106-93881T>C) c.*380-93881T>C (n.*380-93881T>C) | |
| 4 | g.69098634A>T | CA439737444 | UGT2B11,UGT2B7 | c.816A>T (p.Pro272=) c.69A>T (p.Pro23=) n.354A>T c.*106-93881T>A (n.*106-93881T>A) c.*380-93881T>A (n.*380-93881T>A) | |
| 4 | g.69098635A>C | CA357096848 | UGT2B11,UGT2B7 | c.817A>C (p.Asn273His) c.70A>C (p.Asn24His) n.355A>C c.*106-93882T>G (n.*106-93882T>G) c.*380-93882T>G (n.*380-93882T>G) | |
| 4 | g.69098635A>G | CA357096849 | UGT2B11,UGT2B7 | c.817A>G (p.Asn273Asp) c.70A>G (p.Asn24Asp) n.355A>G c.*106-93882T>C (n.*106-93882T>C) c.*380-93882T>C (n.*380-93882T>C) | |
| 4 | g.69098635A>T | CA357096850 | UGT2B11,UGT2B7 | c.817A>T (p.Asn273Tyr) c.70A>T (p.Asn24Tyr) n.355A>T c.*106-93882T>A (n.*106-93882T>A) c.*380-93882T>A (n.*380-93882T>A) | |
| 4 | g.69098636A>C | CA357096852 | UGT2B11,UGT2B7 | c.818A>C (p.Asn273Thr) c.71A>C (p.Asn24Thr) n.356A>C c.*106-93883T>G (n.*106-93883T>G) c.*380-93883T>G (n.*380-93883T>G) | |
| 4 | g.69098636A>G | CA357096853 | UGT2B11,UGT2B7 | c.818A>G (p.Asn273Ser) c.71A>G (p.Asn24Ser) n.356A>G c.*106-93883T>C (n.*106-93883T>C) c.*380-93883T>C (n.*380-93883T>C) | |
| 4 | g.69098636A>T | CA357096851 | UGT2B11,UGT2B7 | c.818A>T (p.Asn273Ile) c.71A>T (p.Asn24Ile) n.356A>T c.*106-93883T>A (n.*106-93883T>A) c.*380-93883T>A (n.*380-93883T>A) | |
| 4 | g.69098637T>A | CA357096855 | UGT2B11,UGT2B7 | c.819T>A (p.Asn273Lys) c.72T>A (p.Asn24Lys) n.357T>A c.*106-93884A>T (n.*106-93884A>T) c.*380-93884A>T (n.*380-93884A>T) | |
| 4 | g.69098637T>C | CA439737456 | UGT2B11,UGT2B7 | c.819T>C (p.Asn273=) c.72T>C (p.Asn24=) n.357T>C c.*106-93884A>G (n.*106-93884A>G) c.*380-93884A>G (n.*380-93884A>G) | |
| 4 | g.69098637T>G | CA357096854 | UGT2B11,UGT2B7 | c.819T>G (p.Asn273Lys) c.72T>G (p.Asn24Lys) n.357T>G c.*106-93884A>C (n.*106-93884A>C) c.*380-93884A>C (n.*380-93884A>C) | gnomAD v4 |
| 4 | g.69098638G>A | CA357096856 | UGT2B11,UGT2B7 | c.820G>A (p.Val274Ile) c.73G>A (p.Val25Ile) n.358G>A c.*106-93885C>T (n.*106-93885C>T) c.*380-93885C>T (n.*380-93885C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.69098638G>C | CA357096857 | UGT2B11,UGT2B7 | c.820G>C (p.Val274Leu) c.73G>C (p.Val25Leu) n.358G>C c.*106-93885C>G (n.*106-93885C>G) c.*380-93885C>G (n.*380-93885C>G) | |
| 4 | g.69098638G= | CA1466050312 | UGT2B11,UGT2B7 | c.820G= (p.Val274=) c.73G= (p.Val25=) n.358G= c.*106-93885C= (n.*106-93885C=) c.*380-93885C= (n.*380-93885C=) | |
| 4 | g.69098638G>T | CA357096858 | UGT2B11,UGT2B7 | c.820G>T (p.Val274Phe) c.73G>T (p.Val25Phe) n.358G>T c.*106-93885C>A (n.*106-93885C>A) c.*380-93885C>A (n.*380-93885C>A) | |
| 4 | g.69098639T>A | CA357096859 | UGT2B11,UGT2B7 | c.821T>A (p.Val274Asp) c.74T>A (p.Val25Asp) n.359T>A c.*106-93886A>T (n.*106-93886A>T) c.*380-93886A>T (n.*380-93886A>T) | |
| 4 | g.69098639T>C | CA357096860 | UGT2B11,UGT2B7 | c.821T>C (p.Val274Ala) c.74T>C (p.Val25Ala) n.359T>C c.*106-93886A>G (n.*106-93886A>G) c.*380-93886A>G (n.*380-93886A>G) | dbSNP gnomAD v4 |
| 4 | g.69098639T>G | CA357096861 | UGT2B11,UGT2B7 | c.821T>G (p.Val274Gly) c.74T>G (p.Val25Gly) n.359T>G c.*106-93886A>C (n.*106-93886A>C) c.*380-93886A>C (n.*380-93886A>C) | |
| 4 | g.69098639T= | CA1466050313 | UGT2B11,UGT2B7 | c.821T= (p.Val274=) c.74T= (p.Val25=) n.359T= c.*106-93886A= (n.*106-93886A=) c.*380-93886A= (n.*380-93886A=) | |
| 4 | g.69098640T>A | CA439737469 | UGT2B11,UGT2B7 | c.822T>A (p.Val274=) c.75T>A (p.Val25=) n.360T>A c.*106-93887A>T (n.*106-93887A>T) c.*380-93887A>T (n.*380-93887A>T) | |
| 4 | g.69098640T>C | CA439737471 | UGT2B11,UGT2B7 | c.822T>C (p.Val274=) c.75T>C (p.Val25=) n.360T>C c.*106-93887A>G (n.*106-93887A>G) c.*380-93887A>G (n.*380-93887A>G) | gnomAD v4 |
| 4 | g.69098640T>G | CA439737472 | UGT2B11,UGT2B7 | c.822T>G (p.Val274=) c.75T>G (p.Val25=) n.360T>G c.*106-93887A>C (n.*106-93887A>C) c.*380-93887A>C (n.*380-93887A>C) | |
| 4 | g.69098641G>A | CA357096862 | UGT2B11,UGT2B7 | c.823G>A (p.Asp275Asn) c.76G>A (p.Asp26Asn) n.361G>A c.*106-93888C>T (n.*106-93888C>T) c.*380-93888C>T (n.*380-93888C>T) | COSMIC |
| 4 | g.69098641G>C | CA357096863 | UGT2B11,UGT2B7 | c.823G>C (p.Asp275His) c.76G>C (p.Asp26His) n.361G>C c.*106-93888C>G (n.*106-93888C>G) c.*380-93888C>G (n.*380-93888C>G) | |
| 4 | g.69098641G= | CA1466050314 | UGT2B11,UGT2B7 | c.823G= (p.Asp275=) c.76G= (p.Asp26=) n.361G= c.*106-93888C= (n.*106-93888C=) c.*380-93888C= (n.*380-93888C=) | |
| 4 | g.69098641G>T | CA98844889 | UGT2B11,UGT2B7 | c.823G>T (p.Asp275Tyr) c.76G>T (p.Asp26Tyr) n.361G>T c.*106-93888C>A (n.*106-93888C>A) c.*380-93888C>A (n.*380-93888C>A) | dbSNP gnomAD v4 |
| 4 | g.69098642A>C | CA357096864 | UGT2B11,UGT2B7 | c.824A>C (p.Asp275Ala) c.77A>C (p.Asp26Ala) n.362A>C c.*106-93889T>G (n.*106-93889T>G) c.*380-93889T>G (n.*380-93889T>G) | |
| 4 | g.69098642A>G | CA357096865 | UGT2B11,UGT2B7 | c.824A>G (p.Asp275Gly) c.77A>G (p.Asp26Gly) n.362A>G c.*106-93889T>C (n.*106-93889T>C) c.*380-93889T>C (n.*380-93889T>C) | |
| 4 | g.69098642A>T | CA357096866 | UGT2B11,UGT2B7 | c.824A>T (p.Asp275Val) c.77A>T (p.Asp26Val) n.362A>T c.*106-93889T>A (n.*106-93889T>A) c.*380-93889T>A (n.*380-93889T>A) | |
| 4 | g.69098643T>A | CA357096867 | UGT2B11,UGT2B7 | c.825T>A (p.Asp275Glu) c.78T>A (p.Asp26Glu) n.363T>A c.*106-93890A>T (n.*106-93890A>T) c.*380-93890A>T (n.*380-93890A>T) | |
| 4 | g.69098643T>C | CA439737487 | UGT2B11,UGT2B7 | c.825T>C (p.Asp275=) c.78T>C (p.Asp26=) n.363T>C c.*106-93890A>G (n.*106-93890A>G) c.*380-93890A>G (n.*380-93890A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098643T>G | CA357096868 | UGT2B11,UGT2B7 | c.825T>G (p.Asp275Glu) c.78T>G (p.Asp26Glu) n.363T>G c.*106-93890A>C (n.*106-93890A>C) c.*380-93890A>C (n.*380-93890A>C) | |
| 4 | g.69098643T= | CA1466050315 | UGT2B11,UGT2B7 | c.825T= (p.Asp275=) c.78T= (p.Asp26=) n.363T= c.*106-93890A= (n.*106-93890A=) c.*380-93890A= (n.*380-93890A=) | |
| 4 | g.69098646del | CA2670857157 | UGT2B11,UGT2B7 | c.828del (p.Phe276LeufsTer?) c.81del (p.Phe27LeufsTer?) n.366del c.*106-93890del (n.*106-93890del) c.*380-93890del (n.*380-93890del) | gnomAD v4 |
| 4 | g.69098644T>A | CA357096869 | UGT2B11,UGT2B7 | c.826T>A (p.Phe276Ile) c.79T>A (p.Phe27Ile) n.364T>A c.*106-93891A>T (n.*106-93891A>T) c.*380-93891A>T (n.*380-93891A>T) | |
| 4 | g.69098644T>C | CA357096870 | UGT2B11,UGT2B7 | c.826T>C (p.Phe276Leu) c.79T>C (p.Phe27Leu) n.364T>C c.*106-93891A>G (n.*106-93891A>G) c.*380-93891A>G (n.*380-93891A>G) | |
| 4 | g.69098644T>G | CA357096871 | UGT2B11,UGT2B7 | c.826T>G (p.Phe276Val) c.79T>G (p.Phe27Val) n.364T>G c.*106-93891A>C (n.*106-93891A>C) c.*380-93891A>C (n.*380-93891A>C) | |
| 4 | g.69098645T>A | CA357096872 | UGT2B11,UGT2B7 | c.827T>A (p.Phe276Tyr) c.80T>A (p.Phe27Tyr) n.365T>A c.*106-93892A>T (n.*106-93892A>T) c.*380-93892A>T (n.*380-93892A>T) | |
| 4 | g.69098645T>C | CA357096873 | UGT2B11,UGT2B7 | c.827T>C (p.Phe276Ser) c.80T>C (p.Phe27Ser) n.365T>C c.*106-93892A>G (n.*106-93892A>G) c.*380-93892A>G (n.*380-93892A>G) | |
| 4 | g.69098645T>G | CA357096874 | UGT2B11,UGT2B7 | c.827T>G (p.Phe276Cys) c.80T>G (p.Phe27Cys) n.365T>G c.*106-93892A>C (n.*106-93892A>C) c.*380-93892A>C (n.*380-93892A>C) | |
| 4 | g.69098646T>A | CA357096875 | UGT2B11,UGT2B7 | c.828T>A (p.Phe276Leu) c.81T>A (p.Phe27Leu) n.366T>A c.*106-93893A>T (n.*106-93893A>T) c.*380-93893A>T (n.*380-93893A>T) | |
| 4 | g.69098646T>C | CA439737498 | UGT2B11,UGT2B7 | c.828T>C (p.Phe276=) c.81T>C (p.Phe27=) n.366T>C c.*106-93893A>G (n.*106-93893A>G) c.*380-93893A>G (n.*380-93893A>G) | |
| 4 | g.69098646T>G | CA357096876 | UGT2B11,UGT2B7 | c.828T>G (p.Phe276Leu) c.81T>G (p.Phe27Leu) n.366T>G c.*106-93893A>C (n.*106-93893A>C) c.*380-93893A>C (n.*380-93893A>C) | gnomAD v4 |
| 4 | g.69098647G>A | CA98844895 | UGT2B11,UGT2B7 | c.829G>A (p.Val277Ile) c.82G>A (p.Val28Ile) n.367G>A c.*106-93894C>T (n.*106-93894C>T) c.*380-93894C>T (n.*380-93894C>T) | dbSNP gnomAD v4 |
| 4 | g.69098647G>C | CA357096877 | UGT2B11,UGT2B7 | c.829G>C (p.Val277Leu) c.82G>C (p.Val28Leu) n.367G>C c.*106-93894C>G (n.*106-93894C>G) c.*380-93894C>G (n.*380-93894C>G) | |
| 4 | g.69098647G= | CA1466050316 | UGT2B11,UGT2B7 | c.829G= (p.Val277=) c.82G= (p.Val28=) n.367G= c.*106-93894C= (n.*106-93894C=) c.*380-93894C= (n.*380-93894C=) | |
| 4 | g.69098647G>T | CA357096878 | UGT2B11,UGT2B7 | c.829G>T (p.Val277Phe) c.82G>T (p.Val28Phe) n.367G>T c.*106-93894C>A (n.*106-93894C>A) c.*380-93894C>A (n.*380-93894C>A) | |
| 4 | g.69098648T>A | CA357096880 | UGT2B11,UGT2B7 | c.830T>A (p.Val277Asp) c.83T>A (p.Val28Asp) n.368T>A c.*106-93895A>T (n.*106-93895A>T) c.*380-93895A>T (n.*380-93895A>T) | |
| 4 | g.69098648T>C | CA2944703 | UGT2B11,UGT2B7 | c.830T>C (p.Val277Ala) c.83T>C (p.Val28Ala) n.368T>C c.*106-93895A>G (n.*106-93895A>G) c.*380-93895A>G (n.*380-93895A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098648T>G | CA357096879 | UGT2B11,UGT2B7 | c.830T>G (p.Val277Gly) c.83T>G (p.Val28Gly) n.368T>G c.*106-93895A>C (n.*106-93895A>C) c.*380-93895A>C (n.*380-93895A>C) | |
| 4 | g.69098648T= | CA1466050317 | UGT2B11,UGT2B7 | c.830T= (p.Val277=) c.83T= (p.Val28=) n.368T= c.*106-93895A= (n.*106-93895A=) c.*380-93895A= (n.*380-93895A=) | |
| 4 | g.69098649T>A | CA439737513 | UGT2B11,UGT2B7 | c.831T>A (p.Val277=) c.84T>A (p.Val28=) n.369T>A c.*106-93896A>T (n.*106-93896A>T) c.*380-93896A>T (n.*380-93896A>T) | |
| 4 | g.69098649T>C | CA439737515 | UGT2B11,UGT2B7 | c.831T>C (p.Val277=) c.84T>C (p.Val28=) n.369T>C c.*106-93896A>G (n.*106-93896A>G) c.*380-93896A>G (n.*380-93896A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098649T>G | CA439737516 | UGT2B11,UGT2B7 | c.831T>G (p.Val277=) c.84T>G (p.Val28=) n.369T>G c.*106-93896A>C (n.*106-93896A>C) c.*380-93896A>C (n.*380-93896A>C) | |
| 4 | g.69098649T= | CA1466050318 | UGT2B11,UGT2B7 | c.831T= (p.Val277=) c.84T= (p.Val28=) n.369T= c.*106-93896A= (n.*106-93896A=) c.*380-93896A= (n.*380-93896A=) | |
| 4 | g.69098650G>A | CA357096881 | UGT2B11,UGT2B7 | c.832G>A (p.Gly278Arg) c.85G>A (p.Gly29Arg) n.370G>A c.*106-93897C>T (n.*106-93897C>T) c.*380-93897C>T (n.*380-93897C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098650G>C | CA357096882 | UGT2B11,UGT2B7 | c.832G>C (p.Gly278Arg) c.85G>C (p.Gly29Arg) n.370G>C c.*106-93897C>G (n.*106-93897C>G) c.*380-93897C>G (n.*380-93897C>G) | |
| 4 | g.69098650G= | CA1466050319 | UGT2B11,UGT2B7 | c.832G= (p.Gly278=) c.85G= (p.Gly29=) n.370G= c.*106-93897C= (n.*106-93897C=) c.*380-93897C= (n.*380-93897C=) | |
| 4 | g.69098650G>T | CA357096883 | UGT2B11,UGT2B7 | c.832G>T (p.Gly278Ter) c.85G>T (p.Gly29Ter) n.370G>T c.*106-93897C>A (n.*106-93897C>A) c.*380-93897C>A (n.*380-93897C>A) | COSMIC |
| 4 | g.69098651G>A | CA2944705 | UGT2B11,UGT2B7 | c.833G>A (p.Gly278Glu) c.86G>A (p.Gly29Glu) n.371G>A c.*106-93898C>T (n.*106-93898C>T) c.*380-93898C>T (n.*380-93898C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098651G>C | CA2944704 | UGT2B11,UGT2B7 | c.833G>C (p.Gly278Ala) c.86G>C (p.Gly29Ala) n.371G>C c.*106-93898C>G (n.*106-93898C>G) c.*380-93898C>G (n.*380-93898C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098651G= | CA1466050320 | UGT2B11,UGT2B7 | c.833G= (p.Gly278=) c.86G= (p.Gly29=) n.371G= c.*106-93898C= (n.*106-93898C=) c.*380-93898C= (n.*380-93898C=) | |
| 4 | g.69098651G>T | CA357096884 | UGT2B11,UGT2B7 | c.833G>T (p.Gly278Val) c.86G>T (p.Gly29Val) n.371G>T c.*106-93898C>A (n.*106-93898C>A) c.*380-93898C>A (n.*380-93898C>A) | |
| 4 | g.69098652A>C | CA439737520 | UGT2B11,UGT2B7 | c.834A>C (p.Gly278=) c.87A>C (p.Gly29=) n.372A>C c.*106-93899T>G (n.*106-93899T>G) c.*380-93899T>G (n.*380-93899T>G) | |
| 4 | g.69098652A>G | CA439737521 | UGT2B11,UGT2B7 | c.834A>G (p.Gly278=) c.87A>G (p.Gly29=) n.372A>G c.*106-93899T>C (n.*106-93899T>C) c.*380-93899T>C (n.*380-93899T>C) | |
| 4 | g.69098652A>T | CA439737522 | UGT2B11,UGT2B7 | c.834A>T (p.Gly278=) c.87A>T (p.Gly29=) n.372A>T c.*106-93899T>A (n.*106-93899T>A) c.*380-93899T>A (n.*380-93899T>A) | |
| 4 | g.69098653G>A | CA357096885 | UGT2B11,UGT2B7 | c.835G>A (p.Gly279Arg) c.88G>A (p.Gly30Arg) n.373G>A c.*106-93900C>T (n.*106-93900C>T) c.*380-93900C>T (n.*380-93900C>T) | |
| 4 | g.69098653G>C | CA357096886 | UGT2B11,UGT2B7 | c.835G>C (p.Gly279Arg) c.88G>C (p.Gly30Arg) n.373G>C c.*106-93900C>G (n.*106-93900C>G) c.*380-93900C>G (n.*380-93900C>G) | |
| 4 | g.69098653G>T | CA357096887 | UGT2B11,UGT2B7 | c.835G>T (p.Gly279Ter) c.88G>T (p.Gly30Ter) n.373G>T c.*106-93900C>A (n.*106-93900C>A) c.*380-93900C>A (n.*380-93900C>A) | |
| 4 | g.69098654G>A | CA357096888 | UGT2B11,UGT2B7 | c.836G>A (p.Gly279Glu) c.89G>A (p.Gly30Glu) n.374G>A c.*106-93901C>T (n.*106-93901C>T) c.*380-93901C>T (n.*380-93901C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098654G>C | CA357096889 | UGT2B11,UGT2B7 | c.836G>C (p.Gly279Ala) c.89G>C (p.Gly30Ala) n.374G>C c.*106-93901C>G (n.*106-93901C>G) c.*380-93901C>G (n.*380-93901C>G) | |
| 4 | g.69098654G= | CA1466050321 | UGT2B11,UGT2B7 | c.836G= (p.Gly279=) c.89G= (p.Gly30=) n.374G= c.*106-93901C= (n.*106-93901C=) c.*380-93901C= (n.*380-93901C=) | |
| 4 | g.69098654G>T | CA357096890 | UGT2B11,UGT2B7 | c.836G>T (p.Gly279Val) c.89G>T (p.Gly30Val) n.374G>T c.*106-93901C>A (n.*106-93901C>A) c.*380-93901C>A (n.*380-93901C>A) | |
| 4 | g.69098655A= | CA1466050322 | UGT2B11,UGT2B7 | c.837A= (p.Gly279=) c.90A= (p.Gly30=) n.375A= c.*106-93902T= (n.*106-93902T=) c.*380-93902T= (n.*380-93902T=) | |
| 4 | g.69098655A>C | CA439737523 | UGT2B11,UGT2B7 | c.837A>C (p.Gly279=) c.90A>C (p.Gly30=) n.375A>C c.*106-93902T>G (n.*106-93902T>G) c.*380-93902T>G (n.*380-93902T>G) | |
| 4 | g.69098655A>G | CA2944706 | UGT2B11,UGT2B7 | c.837A>G (p.Gly279=) c.90A>G (p.Gly30=) n.375A>G c.*106-93902T>C (n.*106-93902T>C) c.*380-93902T>C (n.*380-93902T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098655A>T | CA439737524 | UGT2B11,UGT2B7 | c.837A>T (p.Gly279=) c.90A>T (p.Gly30=) n.375A>T c.*106-93902T>A (n.*106-93902T>A) c.*380-93902T>A (n.*380-93902T>A) | |
| 4 | g.69098656C>A | CA357096892 | UGT2B11,UGT2B7 | c.838C>A (p.Leu280Ile) c.91C>A (p.Leu31Ile) n.376C>A c.*106-93903G>T (n.*106-93903G>T) c.*380-93903G>T (n.*380-93903G>T) | |
| 4 | g.69098656C= | CA1466050323 | UGT2B11,UGT2B7 | c.838C= (p.Leu280=) c.91C= (p.Leu31=) n.376C= c.*106-93903G= (n.*106-93903G=) c.*380-93903G= (n.*380-93903G=) | |
| 4 | g.69098656C>G | CA357096891 | UGT2B11,UGT2B7 | c.838C>G (p.Leu280Val) c.91C>G (p.Leu31Val) n.376C>G c.*106-93903G>C (n.*106-93903G>C) c.*380-93903G>C (n.*380-93903G>C) | |
| 4 | g.69098656C>T | CA2944707 | UGT2B11,UGT2B7 | c.838C>T (p.Leu280Phe) c.91C>T (p.Leu31Phe) n.376C>T c.*106-93903G>A (n.*106-93903G>A) c.*380-93903G>A (n.*380-93903G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098656_69098657insACAAGATAAT | CA552206596 | UGT2B11,UGT2B7 | c.838_839insACAAGATAAT (p.Leu280HisfsTer14) c.91_92insACAAGATAAT (p.Leu31HisfsTer14) n.376_377insACAAGATAAT c.*106-93904_*106-93903insATTATCTTGT (n.*106-93904_*106-93903insATTATCTTGT) c.*380-93904_*380-93903insATTATCTTGT (n.*380-93904_*380-93903insATTATCTTGT) | gnomAD v2 gnomAD v4 |
| 4 | g.69098656_69098657insACAAGATAATTACT | CA1466050326 | UGT2B11,UGT2B7 | c.838_839insACAAGATAATTACT (p.Leu280HisfsTer?) c.91_92insACAAGATAATTACT (p.Leu31HisfsTer?) n.376_377insACAAGATAATTACT c.*106-93904_*106-93903insAGTAATTATCTTGT (n.*106-93904_*106-93903insAGTAATTATCTTGT) c.*380-93904_*380-93903insAGTAATTATCTTGT (n.*380-93904_*380-93903insAGTAATTATCTTGT) | dbSNP |
| 4 | g.69098657T>A | CA357096893 | UGT2B11,UGT2B7 | c.839T>A (p.Leu280His) c.92T>A (p.Leu31His) n.377T>A c.*106-93904A>T (n.*106-93904A>T) c.*380-93904A>T (n.*380-93904A>T) | dbSNP gnomAD v4 |
| 4 | g.69098657T>C | CA357096894 | UGT2B11,UGT2B7 | c.839T>C (p.Leu280Pro) c.92T>C (p.Leu31Pro) n.377T>C c.*106-93904A>G (n.*106-93904A>G) c.*380-93904A>G (n.*380-93904A>G) | |
| 4 | g.69098657T>G | CA357096895 | UGT2B11,UGT2B7 | c.839T>G (p.Leu280Arg) c.92T>G (p.Leu31Arg) n.377T>G c.*106-93904A>C (n.*106-93904A>C) c.*380-93904A>C (n.*380-93904A>C) | |
| 4 | g.69098657T= | CA1466050325 | UGT2B11,UGT2B7 | c.839T= (p.Leu280=) c.92T= (p.Leu31=) n.377T= c.*106-93904A= (n.*106-93904A=) c.*380-93904A= (n.*380-93904A=) | |
| 4 | g.69098657_69098659delinsTCC | CA1466050324 | UGT2B11,UGT2B7 | c.839_841delinsTCC (p.Leu280=) c.92_94delinsTCC (p.Leu31=) n.377_379delinsTCC c.*106-93906_*106-93904delinsGGA (n.*106-93906_*106-93904delinsGGA) c.*380-93906_*380-93904delinsGGA (n.*380-93906_*380-93904delinsGGA) | |
| 4 | g.69098658C>A | CA439737525 | UGT2B11,UGT2B7 | c.840C>A (p.Leu280=) c.93C>A (p.Leu31=) n.378C>A c.*106-93905G>T (n.*106-93905G>T) c.*380-93905G>T (n.*380-93905G>T) | |
| 4 | g.69098658C= | CA1466050327 | UGT2B11,UGT2B7 | c.840C= (p.Leu280=) c.93C= (p.Leu31=) n.378C= c.*106-93905G= (n.*106-93905G=) c.*380-93905G= (n.*380-93905G=) | |
| 4 | g.69098658C>G | CA439737526 | UGT2B11,UGT2B7 | c.840C>G (p.Leu280=) c.93C>G (p.Leu31=) n.378C>G c.*106-93905G>C (n.*106-93905G>C) c.*380-93905G>C (n.*380-93905G>C) | |
| 4 | g.69098658C>T | CA98844935 | UGT2B11,UGT2B7 | c.840C>T (p.Leu280=) c.93C>T (p.Leu31=) n.378C>T c.*106-93905G>A (n.*106-93905G>A) c.*380-93905G>A (n.*380-93905G>A) | dbSNP |
| 4 | g.69098658_69098659del | CA552206597 | UGT2B11,UGT2B7 | c.840_841del (p.His281LeufsTer9) c.93_94del (p.His32LeufsTer9) n.378_379del c.*106-93906_*106-93905del (n.*106-93906_*106-93905del) c.*380-93906_*380-93905del (n.*380-93906_*380-93905del) | dbSNP gnomAD v2 |
| 4 | g.69098659C>A | CA357096896 | UGT2B11,UGT2B7 | c.841C>A (p.His281Asn) c.94C>A (p.His32Asn) n.379C>A c.*106-93906G>T (n.*106-93906G>T) c.*380-93906G>T (n.*380-93906G>T) | |
| 4 | g.69098659C>G | CA357096897 | UGT2B11,UGT2B7 | c.841C>G (p.His281Asp) c.94C>G (p.His32Asp) n.379C>G c.*106-93906G>C (n.*106-93906G>C) c.*380-93906G>C (n.*380-93906G>C) | |
| 4 | g.69098659C>T | CA357096898 | UGT2B11,UGT2B7 | c.841C>T (p.His281Tyr) c.94C>T (p.His32Tyr) n.379C>T c.*106-93906G>A (n.*106-93906G>A) c.*380-93906G>A (n.*380-93906G>A) | COSMIC |
| 4 | g.69098660A>C | CA357096899 | UGT2B11,UGT2B7 | c.842A>C (p.His281Pro) c.95A>C (p.His32Pro) n.380A>C c.*106-93907T>G (n.*106-93907T>G) c.*380-93907T>G (n.*380-93907T>G) | |
| 4 | g.69098660A>G | CA357096900 | UGT2B11,UGT2B7 | c.842A>G (p.His281Arg) c.95A>G (p.His32Arg) n.380A>G c.*106-93907T>C (n.*106-93907T>C) c.*380-93907T>C (n.*380-93907T>C) | |
| 4 | g.69098660A>T | CA357096901 | UGT2B11,UGT2B7 | c.842A>T (p.His281Leu) c.95A>T (p.His32Leu) n.380A>T c.*106-93907T>A (n.*106-93907T>A) c.*380-93907T>A (n.*380-93907T>A) | |
| 4 | g.69098661C>A | CA357096902 | UGT2B11,UGT2B7 | c.843C>A (p.His281Gln) c.96C>A (p.His32Gln) n.381C>A c.*106-93908G>T (n.*106-93908G>T) c.*380-93908G>T (n.*380-93908G>T) | |
| 4 | g.69098661C= | CA1466050328 | UGT2B11,UGT2B7 | c.843C= (p.His281=) c.96C= (p.His32=) n.381C= c.*106-93908G= (n.*106-93908G=) c.*380-93908G= (n.*380-93908G=) | |
| 4 | g.69098661C>G | CA357096903 | UGT2B11,UGT2B7 | c.843C>G (p.His281Gln) c.96C>G (p.His32Gln) n.381C>G c.*106-93908G>C (n.*106-93908G>C) c.*380-93908G>C (n.*380-93908G>C) | |
| 4 | g.69098661C>T | CA439737527 | UGT2B11,UGT2B7 | c.843C>T (p.His281=) c.96C>T (p.His32=) n.381C>T c.*106-93908G>A (n.*106-93908G>A) c.*380-93908G>A (n.*380-93908G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098662T>A | CA357096904 | UGT2B11,UGT2B7 | c.844T>A (p.Cys282Ser) c.97T>A (p.Cys33Ser) n.382T>A c.*106-93909A>T (n.*106-93909A>T) c.*380-93909A>T (n.*380-93909A>T) | |
| 4 | g.69098662T>C | CA357096905 | UGT2B11,UGT2B7 | c.844T>C (p.Cys282Arg) c.97T>C (p.Cys33Arg) n.382T>C c.*106-93909A>G (n.*106-93909A>G) c.*380-93909A>G (n.*380-93909A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.69098662T>G | CA357096906 | UGT2B11,UGT2B7 | c.844T>G (p.Cys282Gly) c.97T>G (p.Cys33Gly) n.382T>G c.*106-93909A>C (n.*106-93909A>C) c.*380-93909A>C (n.*380-93909A>C) | |
| 4 | g.69098662T= | CA1466050329 | UGT2B11,UGT2B7 | c.844T= (p.Cys282=) c.97T= (p.Cys33=) n.382T= c.*106-93909A= (n.*106-93909A=) c.*380-93909A= (n.*380-93909A=) | |
| 4 | g.69098663G>A | CA357096908 | UGT2B11,UGT2B7 | c.845G>A (p.Cys282Tyr) c.98G>A (p.Cys33Tyr) n.383G>A c.*106-93910C>T (n.*106-93910C>T) c.*380-93910C>T (n.*380-93910C>T) | |
| 4 | g.69098663G>C | CA357096909 | UGT2B11,UGT2B7 | c.845G>C (p.Cys282Ser) c.98G>C (p.Cys33Ser) n.383G>C c.*106-93910C>G (n.*106-93910C>G) c.*380-93910C>G (n.*380-93910C>G) | |
| 4 | g.69098663G>T | CA357096907 | UGT2B11,UGT2B7 | c.845G>T (p.Cys282Phe) c.98G>T (p.Cys33Phe) n.383G>T c.*106-93910C>A (n.*106-93910C>A) c.*380-93910C>A (n.*380-93910C>A) | |
| 4 | g.69098664C>A | CA357096911 | UGT2B11,UGT2B7 | c.846C>A (p.Cys282Ter) c.99C>A (p.Cys33Ter) n.384C>A c.*106-93911G>T (n.*106-93911G>T) c.*380-93911G>T (n.*380-93911G>T) | gnomAD v4 |
| 4 | g.69098664C>G | CA357096910 | UGT2B11,UGT2B7 | c.846C>G (p.Cys282Trp) c.99C>G (p.Cys33Trp) n.384C>G c.*106-93911G>C (n.*106-93911G>C) c.*380-93911G>C (n.*380-93911G>C) | |
| 4 | g.69098664C>T | CA439737528 | UGT2B11,UGT2B7 | c.846C>T (p.Cys282=) c.99C>T (p.Cys33=) n.384C>T c.*106-93911G>A (n.*106-93911G>A) c.*380-93911G>A (n.*380-93911G>A) | gnomAD v4 |
| 4 | g.69098664_69098665delinsCA | CA1466050330 | UGT2B11,UGT2B7 | c.846_847delinsCA (p.Cys282=) c.99_100delinsCA (p.Cys33=) n.384_385delinsCA c.*106-93912_*106-93911delinsTG (n.*106-93912_*106-93911delinsTG) c.*380-93912_*380-93911delinsTG (n.*380-93912_*380-93911delinsTG) | |
| 4 | g.69098665A>C | CA357096912 | UGT2B11,UGT2B7 | c.847A>C (p.Lys283Gln) c.100A>C (p.Lys34Gln) n.385A>C c.*106-93912T>G (n.*106-93912T>G) c.*380-93912T>G (n.*380-93912T>G) | |
| 4 | g.69098665A>G | CA357096913 | UGT2B11,UGT2B7 | c.847A>G (p.Lys283Glu) c.100A>G (p.Lys34Glu) n.385A>G c.*106-93912T>C (n.*106-93912T>C) c.*380-93912T>C (n.*380-93912T>C) | |
| 4 | g.69098665A>T | CA357096914 | UGT2B11,UGT2B7 | c.847A>T (p.Lys283Ter) c.100A>T (p.Lys34Ter) n.385A>T c.*106-93912T>A (n.*106-93912T>A) c.*380-93912T>A (n.*380-93912T>A) | |
| 4 | g.69098667del | CA552206598 | UGT2B11,UGT2B7 | c.849del (p.Lys283AsnfsTer?) c.102del (p.Lys34AsnfsTer?) n.387del c.*106-93912del (n.*106-93912del) c.*380-93912del (n.*380-93912del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098666A= | CA1466050331 | UGT2B11,UGT2B7 | c.848A= (p.Lys283=) c.101A= (p.Lys34=) n.386A= c.*106-93913T= (n.*106-93913T=) c.*380-93913T= (n.*380-93913T=) | |
| 4 | g.69098666A>C | CA357096915 | UGT2B11,UGT2B7 | c.848A>C (p.Lys283Thr) c.101A>C (p.Lys34Thr) n.386A>C c.*106-93913T>G (n.*106-93913T>G) c.*380-93913T>G (n.*380-93913T>G) | |
| 4 | g.69098666A>G | CA357096916 | UGT2B11,UGT2B7 | c.848A>G (p.Lys283Arg) c.101A>G (p.Lys34Arg) n.386A>G c.*106-93913T>C (n.*106-93913T>C) c.*380-93913T>C (n.*380-93913T>C) | dbSNP |
| 4 | g.69098666A>T | CA357096917 | UGT2B11,UGT2B7 | c.848A>T (p.Lys283Ile) c.101A>T (p.Lys34Ile) n.386A>T c.*106-93913T>A (n.*106-93913T>A) c.*380-93913T>A (n.*380-93913T>A) | |
| 4 | g.69098667A= | CA1466050332 | UGT2B11,UGT2B7 | c.849A= (p.Lys283=) c.102A= (p.Lys34=) n.387A= c.*106-93914T= (n.*106-93914T=) c.*380-93914T= (n.*380-93914T=) | |
| 4 | g.69098667A>C | CA2944708 | UGT2B11,UGT2B7 | c.849A>C (p.Lys283Asn) c.102A>C (p.Lys34Asn) n.387A>C c.*106-93914T>G (n.*106-93914T>G) c.*380-93914T>G (n.*380-93914T>G) | dbSNP ExAC gnomAD v2 |
| 4 | g.69098667A>G | CA439737531 | UGT2B11,UGT2B7 | c.849A>G (p.Lys283=) c.102A>G (p.Lys34=) n.387A>G c.*106-93914T>C (n.*106-93914T>C) c.*380-93914T>C (n.*380-93914T>C) | dbSNP |
| 4 | g.69098667A>T | CA357096918 | UGT2B11,UGT2B7 | c.849A>T (p.Lys283Asn) c.102A>T (p.Lys34Asn) n.387A>T c.*106-93914T>A (n.*106-93914T>A) c.*380-93914T>A (n.*380-93914T>A) | |
| 4 | g.69098668C>A | CA357096919 | UGT2B11,UGT2B7 | c.850C>A (p.Pro284Thr) c.103C>A (p.Pro35Thr) n.388C>A c.*106-93915G>T (n.*106-93915G>T) c.*380-93915G>T (n.*380-93915G>T) | |
| 4 | g.69098668C= | CA1466050333 | UGT2B11,UGT2B7 | c.850C= (p.Pro284=) c.103C= (p.Pro35=) n.388C= c.*106-93915G= (n.*106-93915G=) c.*380-93915G= (n.*380-93915G=) | |
| 4 | g.69098668C>G | CA357096920 | UGT2B11,UGT2B7 | c.850C>G (p.Pro284Ala) c.103C>G (p.Pro35Ala) n.388C>G c.*106-93915G>C (n.*106-93915G>C) c.*380-93915G>C (n.*380-93915G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.69098668C>T | CA357096921 | UGT2B11,UGT2B7 | c.850C>T (p.Pro284Ser) c.103C>T (p.Pro35Ser) n.388C>T c.*106-93915G>A (n.*106-93915G>A) c.*380-93915G>A (n.*380-93915G>A) | dbSNP gnomAD v2 |
| 4 | g.69098669C>A | CA357096922 | UGT2B11,UGT2B7 | c.851C>A (p.Pro284His) c.104C>A (p.Pro35His) n.389C>A c.*106-93916G>T (n.*106-93916G>T) c.*380-93916G>T (n.*380-93916G>T) | |
| 4 | g.69098669C>G | CA357096923 | UGT2B11,UGT2B7 | c.851C>G (p.Pro284Arg) c.104C>G (p.Pro35Arg) n.389C>G c.*106-93916G>C (n.*106-93916G>C) c.*380-93916G>C (n.*380-93916G>C) | |
| 4 | g.69098669C>T | CA357096924 | UGT2B11,UGT2B7 | c.851C>T (p.Pro284Leu) c.104C>T (p.Pro35Leu) n.389C>T c.*106-93916G>A (n.*106-93916G>A) c.*380-93916G>A (n.*380-93916G>A) | gnomAD v4 |
| 4 | g.69098670T>A | CA439737532 | UGT2B11,UGT2B7 | c.852T>A (p.Pro284=) c.105T>A (p.Pro35=) n.390T>A c.*106-93917A>T (n.*106-93917A>T) c.*380-93917A>T (n.*380-93917A>T) | |
| 4 | g.69098670T>C | CA439737533 | UGT2B11,UGT2B7 | c.852T>C (p.Pro284=) c.105T>C (p.Pro35=) n.390T>C c.*106-93917A>G (n.*106-93917A>G) c.*380-93917A>G (n.*380-93917A>G) | gnomAD v4 |
| 4 | g.69098670T>G | CA439737534 | UGT2B11,UGT2B7 | c.852T>G (p.Pro284=) c.105T>G (p.Pro35=) n.390T>G c.*106-93917A>C (n.*106-93917A>C) c.*380-93917A>C (n.*380-93917A>C) | |
| 4 | g.69098671G>A | CA357096925 | UGT2B11,UGT2B7 | c.853G>A (p.Ala285Thr) c.106G>A (p.Ala36Thr) n.391G>A c.*106-93918C>T (n.*106-93918C>T) c.*380-93918C>T (n.*380-93918C>T) | |
| 4 | g.69098671G>C | CA357096927 | UGT2B11,UGT2B7 | c.853G>C (p.Ala285Pro) c.106G>C (p.Ala36Pro) n.391G>C c.*106-93918C>G (n.*106-93918C>G) c.*380-93918C>G (n.*380-93918C>G) | gnomAD v4 |
| 4 | g.69098671G>T | CA357096926 | UGT2B11,UGT2B7 | c.853G>T (p.Ala285Ser) c.106G>T (p.Ala36Ser) n.391G>T c.*106-93918C>A (n.*106-93918C>A) c.*380-93918C>A (n.*380-93918C>A) | gnomAD v4 |
| 4 | g.69098672C>A | CA357096928 | UGT2B11,UGT2B7 | c.854C>A (p.Ala285Asp) c.107C>A (p.Ala36Asp) n.392C>A c.*106-93919G>T (n.*106-93919G>T) c.*380-93919G>T (n.*380-93919G>T) | |
| 4 | g.69098672C= | CA1466050334 | UGT2B11,UGT2B7 | c.854C= (p.Ala285=) c.107C= (p.Ala36=) n.392C= c.*106-93919G= (n.*106-93919G=) c.*380-93919G= (n.*380-93919G=) | |
| 4 | g.69098672C>G | CA357096929 | UGT2B11,UGT2B7 | c.854C>G (p.Ala285Gly) c.107C>G (p.Ala36Gly) n.392C>G c.*106-93919G>C (n.*106-93919G>C) c.*380-93919G>C (n.*380-93919G>C) | |
| 4 | g.69098672C>T | CA357096930 | UGT2B11,UGT2B7 | c.854C>T (p.Ala285Val) c.107C>T (p.Ala36Val) n.392C>T c.*106-93919G>A (n.*106-93919G>A) c.*380-93919G>A (n.*380-93919G>A) | dbSNP |