UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760289_233760304del | CA2573135609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6745_856-6730del (n.856-6745_856-6730del) c.868-6745_868-6730del (n.868-6745_868-6730del) c.862-6745_862-6730del (n.862-6745_862-6730del) c.2_17del (p.Met1ArgfsTer27) c.61-6745_61-6730del (n.61-6745_61-6730del) c.442-6745_442-6730del (n.442-6745_442-6730del) | ClinVar dbSNP |
| 2 | g.233760301C>A | CA351065126 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6733C>A (n.856-6733C>A) c.868-6733C>A (n.868-6733C>A) c.862-6733C>A (n.862-6733C>A) c.14C>A (p.Ser5Tyr) c.61-6733C>A (n.61-6733C>A) c.442-6733C>A (n.442-6733C>A) | dbSNP gnomAD v4 |
| 2 | g.233760301C= | CA1335893822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6733C= (n.856-6733C=) c.868-6733C= (n.868-6733C=) c.862-6733C= (n.862-6733C=) c.14C= (p.Ser5=) c.61-6733C= (n.61-6733C=) c.442-6733C= (n.442-6733C=) | |
| 2 | g.233760301C>G | CA351065132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6733C>G (n.856-6733C>G) c.868-6733C>G (n.868-6733C>G) c.862-6733C>G (n.862-6733C>G) c.14C>G (p.Ser5Cys) c.61-6733C>G (n.61-6733C>G) c.442-6733C>G (n.442-6733C>G) | dbSNP gnomAD v4 |
| 2 | g.233760301C>T | CA351065142 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6733C>T (n.856-6733C>T) c.868-6733C>T (n.868-6733C>T) c.862-6733C>T (n.862-6733C>T) c.14C>T (p.Ser5Phe) c.61-6733C>T (n.61-6733C>T) c.442-6733C>T (n.442-6733C>T) | gnomAD v4 COSMIC COSMIC |
| 2 | g.233760302C>A | CA431959793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6732C>A (n.856-6732C>A) c.868-6732C>A (n.868-6732C>A) c.862-6732C>A (n.862-6732C>A) c.15C>A (p.Ser5=) c.61-6732C>A (n.61-6732C>A) c.442-6732C>A (n.442-6732C>A) | dbSNP |
| 2 | g.233760302C>G | CA431959792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6732C>G (n.856-6732C>G) c.868-6732C>G (n.868-6732C>G) c.862-6732C>G (n.862-6732C>G) c.15C>G (p.Ser5=) c.61-6732C>G (n.61-6732C>G) c.442-6732C>G (n.442-6732C>G) | dbSNP |
| 2 | g.233760302C>T | CA431959796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6732C>T (n.856-6732C>T) c.868-6732C>T (n.868-6732C>T) c.862-6732C>T (n.862-6732C>T) c.15C>T (p.Ser5=) c.61-6732C>T (n.61-6732C>T) c.442-6732C>T (n.442-6732C>T) | dbSNP |
| 2 | g.233760303C>A | CA351065146 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6731C>A (n.856-6731C>A) c.868-6731C>A (n.868-6731C>A) c.862-6731C>A (n.862-6731C>A) c.16C>A (p.Gln6Lys) c.61-6731C>A (n.61-6731C>A) c.442-6731C>A (n.442-6731C>A) | dbSNP |
| 2 | g.233760303C>G | CA351065149 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6731C>G (n.856-6731C>G) c.868-6731C>G (n.868-6731C>G) c.862-6731C>G (n.862-6731C>G) c.16C>G (p.Gln6Glu) c.61-6731C>G (n.61-6731C>G) c.442-6731C>G (n.442-6731C>G) | dbSNP |
| 2 | g.233760303C>T | CA351065158 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6731C>T (n.856-6731C>T) c.868-6731C>T (n.868-6731C>T) c.862-6731C>T (n.862-6731C>T) c.16C>T (p.Gln6Ter) c.61-6731C>T (n.61-6731C>T) c.442-6731C>T (n.442-6731C>T) | dbSNP gnomAD v4 |
| 2 | g.233760304A>C | CA351065163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6730A>C (n.856-6730A>C) c.868-6730A>C (n.868-6730A>C) c.862-6730A>C (n.862-6730A>C) c.17A>C (p.Gln6Pro) c.61-6730A>C (n.61-6730A>C) c.442-6730A>C (n.442-6730A>C) | dbSNP |
| 2 | g.233760304A>G | CA351065165 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6730A>G (n.856-6730A>G) c.868-6730A>G (n.868-6730A>G) c.862-6730A>G (n.862-6730A>G) c.17A>G (p.Gln6Arg) c.61-6730A>G (n.61-6730A>G) c.442-6730A>G (n.442-6730A>G) | dbSNP |
| 2 | g.233760304A>T | CA351065168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6730A>T (n.856-6730A>T) c.868-6730A>T (n.868-6730A>T) c.862-6730A>T (n.862-6730A>T) c.17A>T (p.Gln6Leu) c.61-6730A>T (n.61-6730A>T) c.442-6730A>T (n.442-6730A>T) | dbSNP |
| 2 | g.233760305G>A | CA2179757 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6729G>A (n.856-6729G>A) c.868-6729G>A (n.868-6729G>A) c.862-6729G>A (n.862-6729G>A) c.18G>A (p.Gln6=) c.61-6729G>A (n.61-6729G>A) c.442-6729G>A (n.442-6729G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233760305G>C | CA2179756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6729G>C (n.856-6729G>C) c.868-6729G>C (n.868-6729G>C) c.862-6729G>C (n.862-6729G>C) c.18G>C (p.Gln6His) c.61-6729G>C (n.61-6729G>C) c.442-6729G>C (n.442-6729G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760305G= | CA1335893823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6729G= (n.856-6729G=) c.868-6729G= (n.868-6729G=) c.862-6729G= (n.862-6729G=) c.18G= (p.Gln6=) c.61-6729G= (n.61-6729G=) c.442-6729G= (n.442-6729G=) | |
| 2 | g.233760305G>T | CA351065171 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6729G>T (n.856-6729G>T) c.868-6729G>T (n.868-6729G>T) c.862-6729G>T (n.862-6729G>T) c.18G>T (p.Gln6His) c.61-6729G>T (n.61-6729G>T) c.442-6729G>T (n.442-6729G>T) | dbSNP |
| 2 | g.233760306G>A | CA67589465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6728G>A (n.856-6728G>A) c.868-6728G>A (n.868-6728G>A) c.862-6728G>A (n.862-6728G>A) c.19G>A (p.Gly7Ser) c.61-6728G>A (n.61-6728G>A) c.442-6728G>A (n.442-6728G>A) | ClinVar dbSNP gnomAD v2 |
| 2 | g.233760306G>C | CA351065181 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6728G>C (n.856-6728G>C) c.868-6728G>C (n.868-6728G>C) c.862-6728G>C (n.862-6728G>C) c.19G>C (p.Gly7Arg) c.61-6728G>C (n.61-6728G>C) c.442-6728G>C (n.442-6728G>C) | dbSNP |
| 2 | g.233760306G= | CA1335893824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6728G= (n.856-6728G=) c.868-6728G= (n.868-6728G=) c.862-6728G= (n.862-6728G=) c.19G= (p.Gly7=) c.61-6728G= (n.61-6728G=) c.442-6728G= (n.442-6728G=) | |
| 2 | g.233760306G>T | CA351065178 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6728G>T (n.856-6728G>T) c.868-6728G>T (n.868-6728G>T) c.862-6728G>T (n.862-6728G>T) c.19G>T (p.Gly7Cys) c.61-6728G>T (n.61-6728G>T) c.442-6728G>T (n.442-6728G>T) | |
| 2 | g.233760307G>A | CA351065185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6727G>A (n.856-6727G>A) c.868-6727G>A (n.868-6727G>A) c.862-6727G>A (n.862-6727G>A) c.20G>A (p.Gly7Asp) c.61-6727G>A (n.61-6727G>A) c.442-6727G>A (n.442-6727G>A) | dbSNP |
| 2 | g.233760307G>C | CA351065187 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6727G>C (n.856-6727G>C) c.868-6727G>C (n.868-6727G>C) c.862-6727G>C (n.862-6727G>C) c.20G>C (p.Gly7Ala) c.61-6727G>C (n.61-6727G>C) c.442-6727G>C (n.442-6727G>C) | dbSNP |
| 2 | g.233760307G>T | CA351065189 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6727G>T (n.856-6727G>T) c.868-6727G>T (n.868-6727G>T) c.862-6727G>T (n.862-6727G>T) c.20G>T (p.Gly7Val) c.61-6727G>T (n.61-6727G>T) c.442-6727G>T (n.442-6727G>T) | |
| 2 | g.233760308C>A | CA431959807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6726C>A (n.856-6726C>A) c.868-6726C>A (n.868-6726C>A) c.862-6726C>A (n.862-6726C>A) c.21C>A (p.Gly7=) c.61-6726C>A (n.61-6726C>A) c.442-6726C>A (n.442-6726C>A) | dbSNP gnomAD v4 |
| 2 | g.233760308C= | CA1335893825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6726C= (n.856-6726C=) c.868-6726C= (n.868-6726C=) c.862-6726C= (n.862-6726C=) c.21C= (p.Gly7=) c.61-6726C= (n.61-6726C=) c.442-6726C= (n.442-6726C=) | |
| 2 | g.233760308C>G | CA431959811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6726C>G (n.856-6726C>G) c.868-6726C>G (n.868-6726C>G) c.862-6726C>G (n.862-6726C>G) c.21C>G (p.Gly7=) c.61-6726C>G (n.61-6726C>G) c.442-6726C>G (n.442-6726C>G) | dbSNP gnomAD v4 |
| 2 | g.233760308C>T | CA2179758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6726C>T (n.856-6726C>T) c.868-6726C>T (n.868-6726C>T) c.862-6726C>T (n.862-6726C>T) c.21C>T (p.Gly7=) c.61-6726C>T (n.61-6726C>T) c.442-6726C>T (n.442-6726C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233760309G>A | CA2179759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6725G>A (n.856-6725G>A) c.868-6725G>A (n.868-6725G>A) c.862-6725G>A (n.862-6725G>A) c.22G>A (p.Gly8Arg) c.61-6725G>A (n.61-6725G>A) c.442-6725G>A (n.442-6725G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760309G>C | CA351065192 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6725G>C (n.856-6725G>C) c.868-6725G>C (n.868-6725G>C) c.862-6725G>C (n.862-6725G>C) c.22G>C (p.Gly8Arg) c.61-6725G>C (n.61-6725G>C) c.442-6725G>C (n.442-6725G>C) | |
| 2 | g.233760309G= | CA1335893826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6725G= (n.856-6725G=) c.868-6725G= (n.868-6725G=) c.862-6725G= (n.862-6725G=) c.22G= (p.Gly8=) c.61-6725G= (n.61-6725G=) c.442-6725G= (n.442-6725G=) | |
| 2 | g.233760309G>T | CA351065193 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6725G>T (n.856-6725G>T) c.868-6725G>T (n.868-6725G>T) c.862-6725G>T (n.862-6725G>T) c.22G>T (p.Gly8Ter) c.61-6725G>T (n.61-6725G>T) c.442-6725G>T (n.442-6725G>T) | dbSNP |
| 2 | g.233760310G>A | CA351065194 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6724G>A (n.856-6724G>A) c.868-6724G>A (n.868-6724G>A) c.862-6724G>A (n.862-6724G>A) c.23G>A (p.Gly8Glu) c.61-6724G>A (n.61-6724G>A) c.442-6724G>A (n.442-6724G>A) | dbSNP |
| 2 | g.233760310G>C | CA351065200 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6724G>C (n.856-6724G>C) c.868-6724G>C (n.868-6724G>C) c.862-6724G>C (n.862-6724G>C) c.23G>C (p.Gly8Ala) c.61-6724G>C (n.61-6724G>C) c.442-6724G>C (n.442-6724G>C) | dbSNP |
| 2 | g.233760310G= | CA1335893827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6724G= (n.856-6724G=) c.868-6724G= (n.868-6724G=) c.862-6724G= (n.862-6724G=) c.23G= (p.Gly8=) c.61-6724G= (n.61-6724G=) c.442-6724G= (n.442-6724G=) | |
| 2 | g.233760310G>T | CA2179760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6724G>T (n.856-6724G>T) c.868-6724G>T (n.868-6724G>T) c.862-6724G>T (n.862-6724G>T) c.23G>T (p.Gly8Val) c.61-6724G>T (n.61-6724G>T) c.442-6724G>T (n.442-6724G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760311A>C | CA431959822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6723A>C (n.856-6723A>C) c.868-6723A>C (n.868-6723A>C) c.862-6723A>C (n.862-6723A>C) c.24A>C (p.Gly8=) c.61-6723A>C (n.61-6723A>C) c.442-6723A>C (n.442-6723A>C) | dbSNP |
| 2 | g.233760311A>G | CA431959820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6723A>G (n.856-6723A>G) c.868-6723A>G (n.868-6723A>G) c.862-6723A>G (n.862-6723A>G) c.24A>G (p.Gly8=) c.61-6723A>G (n.61-6723A>G) c.442-6723A>G (n.442-6723A>G) | dbSNP |
| 2 | g.233760311A>T | CA431959818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6723A>T (n.856-6723A>T) c.868-6723A>T (n.868-6723A>T) c.862-6723A>T (n.862-6723A>T) c.24A>T (p.Gly8=) c.61-6723A>T (n.61-6723A>T) c.442-6723A>T (n.442-6723A>T) | dbSNP |
| 2 | g.233760312C>A | CA351065202 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722C>A (n.856-6722C>A) c.868-6722C>A (n.868-6722C>A) c.862-6722C>A (n.862-6722C>A) c.25C>A (p.Arg9Ser) c.61-6722C>A (n.61-6722C>A) c.442-6722C>A (n.442-6722C>A) | dbSNP gnomAD v4 |
| 2 | g.233760312C= | CA1335893828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722C= (n.856-6722C=) c.868-6722C= (n.868-6722C=) c.862-6722C= (n.862-6722C=) c.25C= (p.Arg9=) c.61-6722C= (n.61-6722C=) c.442-6722C= (n.442-6722C=) | |
| 2 | g.233760312C>G | CA351065203 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722C>G (n.856-6722C>G) c.868-6722C>G (n.868-6722C>G) c.862-6722C>G (n.862-6722C>G) c.25C>G (p.Arg9Gly) c.61-6722C>G (n.61-6722C>G) c.442-6722C>G (n.442-6722C>G) | dbSNP gnomAD v4 |
| 2 | g.233760312C>T | CA2179761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722C>T (n.856-6722C>T) c.868-6722C>T (n.868-6722C>T) c.862-6722C>T (n.862-6722C>T) c.25C>T (p.Arg9Cys) c.61-6722C>T (n.61-6722C>T) c.442-6722C>T (n.442-6722C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.233760312_233760313delinsCG | CA1335893829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722_856-6721delinsCG (n.856-6722_856-6721delinsCG) c.868-6722_868-6721delinsCG (n.868-6722_868-6721delinsCG) c.862-6722_862-6721delinsCG (n.862-6722_862-6721delinsCG) c.25_26delinsCG (p.Arg9=) c.61-6722_61-6721delinsCG (n.61-6722_61-6721delinsCG) c.442-6722_442-6721delinsCG (n.442-6722_442-6721delinsCG) | |
| 2 | g.233760312_233760313delinsGT | CA67589493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6722_856-6721delinsGT (n.856-6722_856-6721delinsGT) c.868-6722_868-6721delinsGT (n.868-6722_868-6721delinsGT) c.862-6722_862-6721delinsGT (n.862-6722_862-6721delinsGT) c.25_26delinsGT (p.Arg9Val) c.61-6722_61-6721delinsGT (n.61-6722_61-6721delinsGT) c.442-6722_442-6721delinsGT (n.442-6722_442-6721delinsGT) | dbSNP |
| 2 | g.233760313G>A | CA2179762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6721G>A (n.856-6721G>A) c.868-6721G>A (n.868-6721G>A) c.862-6721G>A (n.862-6721G>A) c.26G>A (p.Arg9His) c.61-6721G>A (n.61-6721G>A) c.442-6721G>A (n.442-6721G>A) | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
| 2 | g.233760313G>C | CA351065207 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6721G>C (n.856-6721G>C) c.868-6721G>C (n.868-6721G>C) c.862-6721G>C (n.862-6721G>C) c.26G>C (p.Arg9Pro) c.61-6721G>C (n.61-6721G>C) c.442-6721G>C (n.442-6721G>C) | dbSNP |
| 2 | g.233760313G= | CA1335893830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6721G= (n.856-6721G=) c.868-6721G= (n.868-6721G=) c.862-6721G= (n.862-6721G=) c.26G= (p.Arg9=) c.61-6721G= (n.61-6721G=) c.442-6721G= (n.442-6721G=) | |
| 2 | g.233760313G>T | CA351065206 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6721G>T (n.856-6721G>T) c.868-6721G>T (n.868-6721G>T) c.862-6721G>T (n.862-6721G>T) c.26G>T (p.Arg9Leu) c.61-6721G>T (n.61-6721G>T) c.442-6721G>T (n.442-6721G>T) | dbSNP gnomAD v2 gnomAD v4 |