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 |
|---|---|---|---|---|---|
| 7 | g.87411952A>C | CA368060575 | ABCB4 | c.2865T>G (p.Cys955Trp) c.2783+1665T>G (n.2783+1665T>G) c.2760T>G (p.Cys920Trp) c.2784-48T>G (n.2784-48T>G) c.2886T>G (p.Cys962Trp) c.2205T>G (p.Cys735Trp) n.2779-2560T>G c.3135T>G (p.Cys1045Trp) c.3030T>G (p.Cys1010Trp) c.3054-48T>G (n.3054-48T>G) c.3053+1665T>G (n.3053+1665T>G) n.3454-2560T>G | |
| 7 | g.87411952A>G | CA456357862 | ABCB4 | c.2865T>C (p.Cys955=) c.2783+1665T>C (n.2783+1665T>C) c.2760T>C (p.Cys920=) c.2784-48T>C (n.2784-48T>C) c.2886T>C (p.Cys962=) c.2205T>C (p.Cys735=) n.2779-2560T>C c.3135T>C (p.Cys1045=) c.3030T>C (p.Cys1010=) c.3054-48T>C (n.3054-48T>C) c.3053+1665T>C (n.3053+1665T>C) n.3454-2560T>C | |
| 7 | g.87411952A>T | CA368060576 | ABCB4 | c.2865T>A (p.Cys955Ter) c.2783+1665T>A (n.2783+1665T>A) c.2760T>A (p.Cys920Ter) c.2784-48T>A (n.2784-48T>A) c.2886T>A (p.Cys962Ter) c.2205T>A (p.Cys735Ter) n.2779-2560T>A c.3135T>A (p.Cys1045Ter) c.3030T>A (p.Cys1010Ter) c.3054-48T>A (n.3054-48T>A) c.3053+1665T>A (n.3053+1665T>A) n.3454-2560T>A | |
| 7 | g.87411953C>A | CA368060579 | ABCB4 | c.2864G>T (p.Cys955Phe) c.2783+1664G>T (n.2783+1664G>T) c.2759G>T (p.Cys920Phe) c.2784-49G>T (n.2784-49G>T) c.2885G>T (p.Cys962Phe) c.2204G>T (p.Cys735Phe) n.2779-2561G>T c.3134G>T (p.Cys1045Phe) c.3029G>T (p.Cys1010Phe) c.3054-49G>T (n.3054-49G>T) c.3053+1664G>T (n.3053+1664G>T) n.3454-2561G>T | ClinVar |
| 7 | g.87411953C>G | CA368060577 | ABCB4 | c.2864G>C (p.Cys955Ser) c.2783+1664G>C (n.2783+1664G>C) c.2759G>C (p.Cys920Ser) c.2784-49G>C (n.2784-49G>C) c.2885G>C (p.Cys962Ser) c.2204G>C (p.Cys735Ser) n.2779-2561G>C c.3134G>C (p.Cys1045Ser) c.3029G>C (p.Cys1010Ser) c.3054-49G>C (n.3054-49G>C) c.3053+1664G>C (n.3053+1664G>C) n.3454-2561G>C | |
| 7 | g.87411953C>T | CA368060578 | ABCB4 | c.2864G>A (p.Cys955Tyr) c.2783+1664G>A (n.2783+1664G>A) c.2759G>A (p.Cys920Tyr) c.2784-49G>A (n.2784-49G>A) c.2885G>A (p.Cys962Tyr) c.2204G>A (p.Cys735Tyr) n.2779-2561G>A c.3134G>A (p.Cys1045Tyr) c.3029G>A (p.Cys1010Tyr) c.3054-49G>A (n.3054-49G>A) c.3053+1664G>A (n.3053+1664G>A) n.3454-2561G>A | |
| 7 | g.87411954A= | CA1723573131 | ABCB4 | c.2863T= (p.Cys955=) c.2783+1663T= (n.2783+1663T=) c.2758T= (p.Cys920=) c.2784-50T= (n.2784-50T=) c.2884T= (p.Cys962=) c.2203T= (p.Cys735=) n.2779-2562T= c.3133T= (p.Cys1045=) c.3028T= (p.Cys1010=) c.3054-50T= (n.3054-50T=) c.3053+1663T= (n.3053+1663T=) n.3454-2562T= | |
| 7 | g.87411954A>C | CA368060580 | ABCB4 | c.2863T>G (p.Cys955Gly) c.2783+1663T>G (n.2783+1663T>G) c.2758T>G (p.Cys920Gly) c.2784-50T>G (n.2784-50T>G) c.2884T>G (p.Cys962Gly) c.2203T>G (p.Cys735Gly) n.2779-2562T>G c.3133T>G (p.Cys1045Gly) c.3028T>G (p.Cys1010Gly) c.3054-50T>G (n.3054-50T>G) c.3053+1663T>G (n.3053+1663T>G) n.3454-2562T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87411954A>G | CA368060581 | ABCB4 | c.2863T>C (p.Cys955Arg) c.2783+1663T>C (n.2783+1663T>C) c.2758T>C (p.Cys920Arg) c.2784-50T>C (n.2784-50T>C) c.2884T>C (p.Cys962Arg) c.2203T>C (p.Cys735Arg) n.2779-2562T>C c.3133T>C (p.Cys1045Arg) c.3028T>C (p.Cys1010Arg) c.3054-50T>C (n.3054-50T>C) c.3053+1663T>C (n.3053+1663T>C) n.3454-2562T>C | |
| 7 | g.87411954A>T | CA368060582 | ABCB4 | c.2863T>A (p.Cys955Ser) c.2783+1663T>A (n.2783+1663T>A) c.2758T>A (p.Cys920Ser) c.2784-50T>A (n.2784-50T>A) c.2884T>A (p.Cys962Ser) c.2203T>A (p.Cys735Ser) n.2779-2562T>A c.3133T>A (p.Cys1045Ser) c.3028T>A (p.Cys1010Ser) c.3054-50T>A (n.3054-50T>A) c.3053+1663T>A (n.3053+1663T>A) n.3454-2562T>A | |
| 7 | g.87411955A>C | CA456357864 | ABCB4 | c.2862T>G (p.Gly954=) c.2783+1662T>G (n.2783+1662T>G) c.2757T>G (p.Gly919=) c.2784-51T>G (n.2784-51T>G) c.2883T>G (p.Gly961=) c.2202T>G (p.Gly734=) n.2779-2563T>G c.3132T>G (p.Gly1044=) c.3027T>G (p.Gly1009=) c.3054-51T>G (n.3054-51T>G) c.3053+1662T>G (n.3053+1662T>G) n.3454-2563T>G | dbSNP gnomAD v4 |
| 7 | g.87411955A>G | CA456357865 | ABCB4 | c.2862T>C (p.Gly954=) c.2783+1662T>C (n.2783+1662T>C) c.2757T>C (p.Gly919=) c.2784-51T>C (n.2784-51T>C) c.2883T>C (p.Gly961=) c.2202T>C (p.Gly734=) n.2779-2563T>C c.3132T>C (p.Gly1044=) c.3027T>C (p.Gly1009=) c.3054-51T>C (n.3054-51T>C) c.3053+1662T>C (n.3053+1662T>C) n.3454-2563T>C | |
| 7 | g.87411955A>T | CA456357866 | ABCB4 | c.2862T>A (p.Gly954=) c.2783+1662T>A (n.2783+1662T>A) c.2757T>A (p.Gly919=) c.2784-51T>A (n.2784-51T>A) c.2883T>A (p.Gly961=) c.2202T>A (p.Gly734=) n.2779-2563T>A c.3132T>A (p.Gly1044=) c.3027T>A (p.Gly1009=) c.3054-51T>A (n.3054-51T>A) c.3053+1662T>A (n.3053+1662T>A) n.3454-2563T>A | |
| 7 | g.87411956C>A | CA368060583 | ABCB4 | c.2861G>T (p.Gly954Val) c.2783+1661G>T (n.2783+1661G>T) c.2756G>T (p.Gly919Val) c.2784-52G>T (n.2784-52G>T) c.2882G>T (p.Gly961Val) c.2201G>T (p.Gly734Val) n.2779-2564G>T c.3131G>T (p.Gly1044Val) c.3026G>T (p.Gly1009Val) c.3054-52G>T (n.3054-52G>T) c.3053+1661G>T (n.3053+1661G>T) n.3454-2564G>T | |
| 7 | g.87411956C>G | CA368060584 | ABCB4 | c.2861G>C (p.Gly954Ala) c.2783+1661G>C (n.2783+1661G>C) c.2756G>C (p.Gly919Ala) c.2784-52G>C (n.2784-52G>C) c.2882G>C (p.Gly961Ala) c.2201G>C (p.Gly734Ala) n.2779-2564G>C c.3131G>C (p.Gly1044Ala) c.3026G>C (p.Gly1009Ala) c.3054-52G>C (n.3054-52G>C) c.3053+1661G>C (n.3053+1661G>C) n.3454-2564G>C | |
| 7 | g.87411956C>T | CA368060585 | ABCB4 | c.2861G>A (p.Gly954Asp) c.2783+1661G>A (n.2783+1661G>A) c.2756G>A (p.Gly919Asp) c.2784-52G>A (n.2784-52G>A) c.2882G>A (p.Gly961Asp) c.2201G>A (p.Gly734Asp) n.2779-2564G>A c.3131G>A (p.Gly1044Asp) c.3026G>A (p.Gly1009Asp) c.3054-52G>A (n.3054-52G>A) c.3053+1661G>A (n.3053+1661G>A) n.3454-2564G>A | ClinVar |
| 7 | g.87411957C>A | CA368060586 | ABCB4 | c.2860G>T (p.Gly954Cys) c.2783+1660G>T (n.2783+1660G>T) c.2755G>T (p.Gly919Cys) c.2784-53G>T (n.2784-53G>T) c.2881G>T (p.Gly961Cys) c.2200G>T (p.Gly734Cys) n.2779-2565G>T c.3130G>T (p.Gly1044Cys) c.3025G>T (p.Gly1009Cys) c.3054-53G>T (n.3054-53G>T) c.3053+1660G>T (n.3053+1660G>T) n.3454-2565G>T | |
| 7 | g.87411957C= | CA1723573136 | ABCB4 | c.2860G= (p.Gly954=) c.2783+1660G= (n.2783+1660G=) c.2755G= (p.Gly919=) c.2784-53G= (n.2784-53G=) c.2881G= (p.Gly961=) c.2200G= (p.Gly734=) n.2779-2565G= c.3130G= (p.Gly1044=) c.3025G= (p.Gly1009=) c.3054-53G= (n.3054-53G=) c.3053+1660G= (n.3053+1660G=) n.3454-2565G= | |
| 7 | g.87411957C>G | CA368060587 | ABCB4 | c.2860G>C (p.Gly954Arg) c.2783+1660G>C (n.2783+1660G>C) c.2755G>C (p.Gly919Arg) c.2784-53G>C (n.2784-53G>C) c.2881G>C (p.Gly961Arg) c.2200G>C (p.Gly734Arg) n.2779-2565G>C c.3130G>C (p.Gly1044Arg) c.3025G>C (p.Gly1009Arg) c.3054-53G>C (n.3054-53G>C) c.3053+1660G>C (n.3053+1660G>C) n.3454-2565G>C | |
| 7 | g.87411957C>T | CA4326917 | ABCB4 | c.2860G>A (p.Gly954Ser) c.2783+1660G>A (n.2783+1660G>A) c.2755G>A (p.Gly919Ser) c.2784-53G>A (n.2784-53G>A) c.2881G>A (p.Gly961Ser) c.2200G>A (p.Gly734Ser) n.2779-2565G>A c.3130G>A (p.Gly1044Ser) c.3025G>A (p.Gly1009Ser) c.3054-53G>A (n.3054-53G>A) c.3053+1660G>A (n.3053+1660G>A) n.3454-2565G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.87411958G>A | CA4326918 | ABCB4 | c.2859C>T (p.Ala953=) c.2783+1659C>T (n.2783+1659C>T) c.2754C>T (p.Ala918=) c.2784-54C>T (n.2784-54C>T) c.2880C>T (p.Ala960=) c.2199C>T (p.Ala733=) n.2779-2566C>T c.3129C>T (p.Ala1043=) c.3024C>T (p.Ala1008=) c.3054-54C>T (n.3054-54C>T) c.3053+1659C>T (n.3053+1659C>T) n.3454-2566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87411958G>C | CA456357871 | ABCB4 | c.2859C>G (p.Ala953=) c.2783+1659C>G (n.2783+1659C>G) c.2754C>G (p.Ala918=) c.2784-54C>G (n.2784-54C>G) c.2880C>G (p.Ala960=) c.2199C>G (p.Ala733=) n.2779-2566C>G c.3129C>G (p.Ala1043=) c.3024C>G (p.Ala1008=) c.3054-54C>G (n.3054-54C>G) c.3053+1659C>G (n.3053+1659C>G) n.3454-2566C>G | |
| 7 | g.87411958G= | CA1723573142 | ABCB4 | c.2859C= (p.Ala953=) c.2783+1659C= (n.2783+1659C=) c.2754C= (p.Ala918=) c.2784-54C= (n.2784-54C=) c.2880C= (p.Ala960=) c.2199C= (p.Ala733=) n.2779-2566C= c.3129C= (p.Ala1043=) c.3024C= (p.Ala1008=) c.3054-54C= (n.3054-54C=) c.3053+1659C= (n.3053+1659C=) n.3454-2566C= | |
| 7 | g.87411958G>T | CA456357870 | ABCB4 | c.2859C>A (p.Ala953=) c.2783+1659C>A (n.2783+1659C>A) c.2754C>A (p.Ala918=) c.2784-54C>A (n.2784-54C>A) c.2880C>A (p.Ala960=) c.2199C>A (p.Ala733=) n.2779-2566C>A c.3129C>A (p.Ala1043=) c.3024C>A (p.Ala1008=) c.3054-54C>A (n.3054-54C>A) c.3053+1659C>A (n.3053+1659C>A) n.3454-2566C>A | |
| 7 | g.87411959G>A | CA368060588 | ABCB4 | c.2858C>T (p.Ala953Val) c.2783+1658C>T (n.2783+1658C>T) c.2753C>T (p.Ala918Val) c.2784-55C>T (n.2784-55C>T) c.2879C>T (p.Ala960Val) c.2198C>T (p.Ala733Val) n.2779-2567C>T c.3128C>T (p.Ala1043Val) c.3023C>T (p.Ala1008Val) c.3054-55C>T (n.3054-55C>T) c.3053+1658C>T (n.3053+1658C>T) n.3454-2567C>T | |
| 7 | g.87411959G>C | CA368060589 | ABCB4 | c.2858C>G (p.Ala953Gly) c.2783+1658C>G (n.2783+1658C>G) c.2753C>G (p.Ala918Gly) c.2784-55C>G (n.2784-55C>G) c.2879C>G (p.Ala960Gly) c.2198C>G (p.Ala733Gly) n.2779-2567C>G c.3128C>G (p.Ala1043Gly) c.3023C>G (p.Ala1008Gly) c.3054-55C>G (n.3054-55C>G) c.3053+1658C>G (n.3053+1658C>G) n.3454-2567C>G | |
| 7 | g.87411959G>T | CA368060590 | ABCB4 | c.2858C>A (p.Ala953Asp) c.2783+1658C>A (n.2783+1658C>A) c.2753C>A (p.Ala918Asp) c.2784-55C>A (n.2784-55C>A) c.2879C>A (p.Ala960Asp) c.2198C>A (p.Ala733Asp) n.2779-2567C>A c.3128C>A (p.Ala1043Asp) c.3023C>A (p.Ala1008Asp) c.3054-55C>A (n.3054-55C>A) c.3053+1658C>A (n.3053+1658C>A) n.3454-2567C>A | ClinVar dbSNP |
| 7 | g.87411960C>A | CA368060591 | ABCB4 | c.2857G>T (p.Ala953Ser) c.2783+1657G>T (n.2783+1657G>T) c.2752G>T (p.Ala918Ser) c.2784-56G>T (n.2784-56G>T) c.2878G>T (p.Ala960Ser) c.2197G>T (p.Ala733Ser) n.2779-2568G>T c.3127G>T (p.Ala1043Ser) c.3022G>T (p.Ala1008Ser) c.3054-56G>T (n.3054-56G>T) c.3053+1657G>T (n.3053+1657G>T) n.3454-2568G>T | |
| 7 | g.87411960C>G | CA368060593 | ABCB4 | c.2857G>C (p.Ala953Pro) c.2783+1657G>C (n.2783+1657G>C) c.2752G>C (p.Ala918Pro) c.2784-56G>C (n.2784-56G>C) c.2878G>C (p.Ala960Pro) c.2197G>C (p.Ala733Pro) n.2779-2568G>C c.3127G>C (p.Ala1043Pro) c.3022G>C (p.Ala1008Pro) c.3054-56G>C (n.3054-56G>C) c.3053+1657G>C (n.3053+1657G>C) n.3454-2568G>C | |
| 7 | g.87411960C>T | CA368060592 | ABCB4 | c.2857G>A (p.Ala953Thr) c.2783+1657G>A (n.2783+1657G>A) c.2752G>A (p.Ala918Thr) c.2784-56G>A (n.2784-56G>A) c.2878G>A (p.Ala960Thr) c.2197G>A (p.Ala733Thr) n.2779-2568G>A c.3127G>A (p.Ala1043Thr) c.3022G>A (p.Ala1008Thr) c.3054-56G>A (n.3054-56G>A) c.3053+1657G>A (n.3053+1657G>A) n.3454-2568G>A | |
| 7 | g.87411961A= | CA1723573150 | ABCB4 | c.2856T= (p.Tyr952=) c.2783+1656T= (n.2783+1656T=) c.2751T= (p.Tyr917=) c.2784-57T= (n.2784-57T=) c.2877T= (p.Tyr959=) c.2196T= (p.Tyr732=) n.2779-2569T= c.3126T= (p.Tyr1042=) c.3021T= (p.Tyr1007=) c.3054-57T= (n.3054-57T=) c.3053+1656T= (n.3053+1656T=) n.3454-2569T= | |
| 7 | g.87411961A>C | CA368060594 | ABCB4 | c.2856T>G (p.Tyr952Ter) c.2783+1656T>G (n.2783+1656T>G) c.2751T>G (p.Tyr917Ter) c.2784-57T>G (n.2784-57T>G) c.2877T>G (p.Tyr959Ter) c.2196T>G (p.Tyr732Ter) n.2779-2569T>G c.3126T>G (p.Tyr1042Ter) c.3021T>G (p.Tyr1007Ter) c.3054-57T>G (n.3054-57T>G) c.3053+1656T>G (n.3053+1656T>G) n.3454-2569T>G | |
| 7 | g.87411961A>G | CA456357874 | ABCB4 | c.2856T>C (p.Tyr952=) c.2783+1656T>C (n.2783+1656T>C) c.2751T>C (p.Tyr917=) c.2784-57T>C (n.2784-57T>C) c.2877T>C (p.Tyr959=) c.2196T>C (p.Tyr732=) n.2779-2569T>C c.3126T>C (p.Tyr1042=) c.3021T>C (p.Tyr1007=) c.3054-57T>C (n.3054-57T>C) c.3053+1656T>C (n.3053+1656T>C) n.3454-2569T>C | dbSNP |
| 7 | g.87411961A>T | CA368060595 | ABCB4 | c.2856T>A (p.Tyr952Ter) c.2783+1656T>A (n.2783+1656T>A) c.2751T>A (p.Tyr917Ter) c.2784-57T>A (n.2784-57T>A) c.2877T>A (p.Tyr959Ter) c.2196T>A (p.Tyr732Ter) n.2779-2569T>A c.3126T>A (p.Tyr1042Ter) c.3021T>A (p.Tyr1007Ter) c.3054-57T>A (n.3054-57T>A) c.3053+1656T>A (n.3053+1656T>A) n.3454-2569T>A | |
| 7 | g.87411962T>A | CA368060596 | ABCB4 | c.2855A>T (p.Tyr952Phe) c.2783+1655A>T (n.2783+1655A>T) c.2750A>T (p.Tyr917Phe) c.2784-58A>T (n.2784-58A>T) c.2876A>T (p.Tyr959Phe) c.2195A>T (p.Tyr732Phe) n.2779-2570A>T c.3125A>T (p.Tyr1042Phe) c.3020A>T (p.Tyr1007Phe) c.3054-58A>T (n.3054-58A>T) c.3053+1655A>T (n.3053+1655A>T) n.3454-2570A>T | |
| 7 | g.87411962T>C | CA368060597 | ABCB4 | c.2855A>G (p.Tyr952Cys) c.2783+1655A>G (n.2783+1655A>G) c.2750A>G (p.Tyr917Cys) c.2784-58A>G (n.2784-58A>G) c.2876A>G (p.Tyr959Cys) c.2195A>G (p.Tyr732Cys) n.2779-2570A>G c.3125A>G (p.Tyr1042Cys) c.3020A>G (p.Tyr1007Cys) c.3054-58A>G (n.3054-58A>G) c.3053+1655A>G (n.3053+1655A>G) n.3454-2570A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.87411962T>G | CA368060598 | ABCB4 | c.2855A>C (p.Tyr952Ser) c.2783+1655A>C (n.2783+1655A>C) c.2750A>C (p.Tyr917Ser) c.2784-58A>C (n.2784-58A>C) c.2876A>C (p.Tyr959Ser) c.2195A>C (p.Tyr732Ser) n.2779-2570A>C c.3125A>C (p.Tyr1042Ser) c.3020A>C (p.Tyr1007Ser) c.3054-58A>C (n.3054-58A>C) c.3053+1655A>C (n.3053+1655A>C) n.3454-2570A>C | |
| 7 | g.87411962T= | CA1723573154 | ABCB4 | c.2855A= (p.Tyr952=) c.2783+1655A= (n.2783+1655A=) c.2750A= (p.Tyr917=) c.2784-58A= (n.2784-58A=) c.2876A= (p.Tyr959=) c.2195A= (p.Tyr732=) n.2779-2570A= c.3125A= (p.Tyr1042=) c.3020A= (p.Tyr1007=) c.3054-58A= (n.3054-58A=) c.3053+1655A= (n.3053+1655A=) n.3454-2570A= | |
| 7 | g.87411963A= | CA1723573159 | ABCB4 | c.2854T= (p.Tyr952=) c.2783+1654T= (n.2783+1654T=) c.2749T= (p.Tyr917=) c.2784-59T= (n.2784-59T=) c.2875T= (p.Tyr959=) c.2194T= (p.Tyr732=) n.2779-2571T= c.3124T= (p.Tyr1042=) c.3019T= (p.Tyr1007=) c.3054-59T= (n.3054-59T=) c.3053+1654T= (n.3053+1654T=) n.3454-2571T= | |
| 7 | g.87411963A>C | CA368060599 | ABCB4 | c.2854T>G (p.Tyr952Asp) c.2783+1654T>G (n.2783+1654T>G) c.2749T>G (p.Tyr917Asp) c.2784-59T>G (n.2784-59T>G) c.2875T>G (p.Tyr959Asp) c.2194T>G (p.Tyr732Asp) n.2779-2571T>G c.3124T>G (p.Tyr1042Asp) c.3019T>G (p.Tyr1007Asp) c.3054-59T>G (n.3054-59T>G) c.3053+1654T>G (n.3053+1654T>G) n.3454-2571T>G | |
| 7 | g.87411963A>G | CA4326919 | ABCB4 | c.2854T>C (p.Tyr952His) c.2783+1654T>C (n.2783+1654T>C) c.2749T>C (p.Tyr917His) c.2784-59T>C (n.2784-59T>C) c.2875T>C (p.Tyr959His) c.2194T>C (p.Tyr732His) n.2779-2571T>C c.3124T>C (p.Tyr1042His) c.3019T>C (p.Tyr1007His) c.3054-59T>C (n.3054-59T>C) c.3053+1654T>C (n.3053+1654T>C) n.3454-2571T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87411963A>T | CA368060600 | ABCB4 | c.2854T>A (p.Tyr952Asn) c.2783+1654T>A (n.2783+1654T>A) c.2749T>A (p.Tyr917Asn) c.2784-59T>A (n.2784-59T>A) c.2875T>A (p.Tyr959Asn) c.2194T>A (p.Tyr732Asn) n.2779-2571T>A c.3124T>A (p.Tyr1042Asn) c.3019T>A (p.Tyr1007Asn) c.3054-59T>A (n.3054-59T>A) c.3053+1654T>A (n.3053+1654T>A) n.3454-2571T>A | |
| 7 | g.87411964G>A | CA456357877 | ABCB4 | c.2853C>T (p.Ser951=) c.2783+1653C>T (n.2783+1653C>T) c.2748C>T (p.Ser916=) c.2784-60C>T (n.2784-60C>T) c.2874C>T (p.Ser958=) c.2193C>T (p.Ser731=) n.2779-2572C>T c.3123C>T (p.Ser1041=) c.3018C>T (p.Ser1006=) c.3054-60C>T (n.3054-60C>T) c.3053+1653C>T (n.3053+1653C>T) n.3454-2572C>T | |
| 7 | g.87411964G>C | CA456357878 | ABCB4 | c.2853C>G (p.Ser951=) c.2783+1653C>G (n.2783+1653C>G) c.2748C>G (p.Ser916=) c.2784-60C>G (n.2784-60C>G) c.2874C>G (p.Ser958=) c.2193C>G (p.Ser731=) n.2779-2572C>G c.3123C>G (p.Ser1041=) c.3018C>G (p.Ser1006=) c.3054-60C>G (n.3054-60C>G) c.3053+1653C>G (n.3053+1653C>G) n.3454-2572C>G | ClinVar |
| 7 | g.87411964G>T | CA456357879 | ABCB4 | c.2853C>A (p.Ser951=) c.2783+1653C>A (n.2783+1653C>A) c.2748C>A (p.Ser916=) c.2784-60C>A (n.2784-60C>A) c.2874C>A (p.Ser958=) c.2193C>A (p.Ser731=) n.2779-2572C>A c.3123C>A (p.Ser1041=) c.3018C>A (p.Ser1006=) c.3054-60C>A (n.3054-60C>A) c.3053+1653C>A (n.3053+1653C>A) n.3454-2572C>A | |
| 7 | g.87411965G>A | CA368060601 | ABCB4 | c.2852C>T (p.Ser951Phe) c.2783+1652C>T (n.2783+1652C>T) c.2747C>T (p.Ser916Phe) c.2784-61C>T (n.2784-61C>T) c.2873C>T (p.Ser958Phe) c.2192C>T (p.Ser731Phe) n.2779-2573C>T c.3122C>T (p.Ser1041Phe) c.3017C>T (p.Ser1006Phe) c.3054-61C>T (n.3054-61C>T) c.3053+1652C>T (n.3053+1652C>T) n.3454-2573C>T | COSMIC COSMIC |
| 7 | g.87411965G>C | CA368060602 | ABCB4 | c.2852C>G (p.Ser951Cys) c.2783+1652C>G (n.2783+1652C>G) c.2747C>G (p.Ser916Cys) c.2784-61C>G (n.2784-61C>G) c.2873C>G (p.Ser958Cys) c.2192C>G (p.Ser731Cys) n.2779-2573C>G c.3122C>G (p.Ser1041Cys) c.3017C>G (p.Ser1006Cys) c.3054-61C>G (n.3054-61C>G) c.3053+1652C>G (n.3053+1652C>G) n.3454-2573C>G | |
| 7 | g.87411965G= | CA1723573166 | ABCB4 | c.2852C= (p.Ser951=) c.2783+1652C= (n.2783+1652C=) c.2747C= (p.Ser916=) c.2784-61C= (n.2784-61C=) c.2873C= (p.Ser958=) c.2192C= (p.Ser731=) n.2779-2573C= c.3122C= (p.Ser1041=) c.3017C= (p.Ser1006=) c.3054-61C= (n.3054-61C=) c.3053+1652C= (n.3053+1652C=) n.3454-2573C= | |
| 7 | g.87411965G>T | CA368060603 | ABCB4 | c.2852C>A (p.Ser951Tyr) c.2783+1652C>A (n.2783+1652C>A) c.2747C>A (p.Ser916Tyr) c.2784-61C>A (n.2784-61C>A) c.2873C>A (p.Ser958Tyr) c.2192C>A (p.Ser731Tyr) n.2779-2573C>A c.3122C>A (p.Ser1041Tyr) c.3017C>A (p.Ser1006Tyr) c.3054-61C>A (n.3054-61C>A) c.3053+1652C>A (n.3053+1652C>A) n.3454-2573C>A | |
| 7 | g.87411966A>C | CA368060606 | ABCB4 | c.2851T>G (p.Ser951Ala) c.2783+1651T>G (n.2783+1651T>G) c.2746T>G (p.Ser916Ala) c.2784-62T>G (n.2784-62T>G) c.2872T>G (p.Ser958Ala) c.2191T>G (p.Ser731Ala) n.2779-2574T>G c.3121T>G (p.Ser1041Ala) c.3016T>G (p.Ser1006Ala) c.3054-62T>G (n.3054-62T>G) c.3053+1651T>G (n.3053+1651T>G) n.3454-2574T>G |