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.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 | |
| 7 | g.87411966A>G | CA368060605 | ABCB4 | c.2851T>C (p.Ser951Pro) c.2783+1651T>C (n.2783+1651T>C) c.2746T>C (p.Ser916Pro) c.2784-62T>C (n.2784-62T>C) c.2872T>C (p.Ser958Pro) c.2191T>C (p.Ser731Pro) n.2779-2574T>C c.3121T>C (p.Ser1041Pro) c.3016T>C (p.Ser1006Pro) c.3054-62T>C (n.3054-62T>C) c.3053+1651T>C (n.3053+1651T>C) n.3454-2574T>C | |
| 7 | g.87411966A>T | CA368060604 | ABCB4 | c.2851T>A (p.Ser951Thr) c.2783+1651T>A (n.2783+1651T>A) c.2746T>A (p.Ser916Thr) c.2784-62T>A (n.2784-62T>A) c.2872T>A (p.Ser958Thr) c.2191T>A (p.Ser731Thr) n.2779-2574T>A c.3121T>A (p.Ser1041Thr) c.3016T>A (p.Ser1006Thr) c.3054-62T>A (n.3054-62T>A) c.3053+1651T>A (n.3053+1651T>A) n.3454-2574T>A | |
| 7 | g.87411970dup | CA1723573170 | ABCB4 | c.2851dup (p.Ser951PhefsTer?) c.2783+1651dup (n.2783+1651dup) c.2746dup (p.Ser916PhefsTer?) c.2784-62dup (n.2784-62dup) c.2872dup (p.Ser958PhefsTer?) c.2191dup (p.Ser731PhefsTer?) n.2779-2574dup c.3121dup (p.Ser1041PhefsTer?) c.3016dup (p.Ser1006PhefsTer?) c.3054-62dup (n.3054-62dup) c.3053+1651dup (n.3053+1651dup) n.3454-2574dup | dbSNP |
| 7 | g.87411967A>C | CA368060607 | ABCB4 | c.2850T>G (p.Phe950Leu) c.2783+1650T>G (n.2783+1650T>G) c.2745T>G (p.Phe915Leu) c.2784-63T>G (n.2784-63T>G) c.2871T>G (p.Phe957Leu) c.2190T>G (p.Phe730Leu) n.2779-2575T>G c.3120T>G (p.Phe1040Leu) c.3015T>G (p.Phe1005Leu) c.3054-63T>G (n.3054-63T>G) c.3053+1650T>G (n.3053+1650T>G) n.3454-2575T>G | |
| 7 | g.87411967A>G | CA456357882 | ABCB4 | c.2850T>C (p.Phe950=) c.2783+1650T>C (n.2783+1650T>C) c.2745T>C (p.Phe915=) c.2784-63T>C (n.2784-63T>C) c.2871T>C (p.Phe957=) c.2190T>C (p.Phe730=) n.2779-2575T>C c.3120T>C (p.Phe1040=) c.3015T>C (p.Phe1005=) c.3054-63T>C (n.3054-63T>C) c.3053+1650T>C (n.3053+1650T>C) n.3454-2575T>C | |
| 7 | g.87411967A>T | CA368060608 | ABCB4 | c.2850T>A (p.Phe950Leu) c.2783+1650T>A (n.2783+1650T>A) c.2745T>A (p.Phe915Leu) c.2784-63T>A (n.2784-63T>A) c.2871T>A (p.Phe957Leu) c.2190T>A (p.Phe730Leu) n.2779-2575T>A c.3120T>A (p.Phe1040Leu) c.3015T>A (p.Phe1005Leu) c.3054-63T>A (n.3054-63T>A) c.3053+1650T>A (n.3053+1650T>A) n.3454-2575T>A | |
| 7 | g.87411968A>C | CA368060609 | ABCB4 | c.2849T>G (p.Phe950Cys) c.2783+1649T>G (n.2783+1649T>G) c.2744T>G (p.Phe915Cys) c.2784-64T>G (n.2784-64T>G) c.2870T>G (p.Phe957Cys) c.2189T>G (p.Phe730Cys) n.2779-2576T>G c.3119T>G (p.Phe1040Cys) c.3014T>G (p.Phe1005Cys) c.3054-64T>G (n.3054-64T>G) c.3053+1649T>G (n.3053+1649T>G) n.3454-2576T>G | |
| 7 | g.87411968A>G | CA368060610 | ABCB4 | c.2849T>C (p.Phe950Ser) c.2783+1649T>C (n.2783+1649T>C) c.2744T>C (p.Phe915Ser) c.2784-64T>C (n.2784-64T>C) c.2870T>C (p.Phe957Ser) c.2189T>C (p.Phe730Ser) n.2779-2576T>C c.3119T>C (p.Phe1040Ser) c.3014T>C (p.Phe1005Ser) c.3054-64T>C (n.3054-64T>C) c.3053+1649T>C (n.3053+1649T>C) n.3454-2576T>C | |
| 7 | g.87411968A>T | CA368060611 | ABCB4 | c.2849T>A (p.Phe950Tyr) c.2783+1649T>A (n.2783+1649T>A) c.2744T>A (p.Phe915Tyr) c.2784-64T>A (n.2784-64T>A) c.2870T>A (p.Phe957Tyr) c.2189T>A (p.Phe730Tyr) n.2779-2576T>A c.3119T>A (p.Phe1040Tyr) c.3014T>A (p.Phe1005Tyr) c.3054-64T>A (n.3054-64T>A) c.3053+1649T>A (n.3053+1649T>A) n.3454-2576T>A | |
| 7 | g.87411969A>C | CA368060612 | ABCB4 | c.2848T>G (p.Phe950Val) c.2783+1648T>G (n.2783+1648T>G) c.2743T>G (p.Phe915Val) c.2784-65T>G (n.2784-65T>G) c.2869T>G (p.Phe957Val) c.2188T>G (p.Phe730Val) n.2779-2577T>G c.3118T>G (p.Phe1040Val) c.3013T>G (p.Phe1005Val) c.3054-65T>G (n.3054-65T>G) c.3053+1648T>G (n.3053+1648T>G) n.3454-2577T>G | |
| 7 | g.87411969A>G | CA368060613 | ABCB4 | c.2848T>C (p.Phe950Leu) c.2783+1648T>C (n.2783+1648T>C) c.2743T>C (p.Phe915Leu) c.2784-65T>C (n.2784-65T>C) c.2869T>C (p.Phe957Leu) c.2188T>C (p.Phe730Leu) n.2779-2577T>C c.3118T>C (p.Phe1040Leu) c.3013T>C (p.Phe1005Leu) c.3054-65T>C (n.3054-65T>C) c.3053+1648T>C (n.3053+1648T>C) n.3454-2577T>C | |
| 7 | g.87411969A>T | CA368060614 | ABCB4 | c.2848T>A (p.Phe950Ile) c.2783+1648T>A (n.2783+1648T>A) c.2743T>A (p.Phe915Ile) c.2784-65T>A (n.2784-65T>A) c.2869T>A (p.Phe957Ile) c.2188T>A (p.Phe730Ile) n.2779-2577T>A c.3118T>A (p.Phe1040Ile) c.3013T>A (p.Phe1005Ile) c.3054-65T>A (n.3054-65T>A) c.3053+1648T>A (n.3053+1648T>A) n.3454-2577T>A | |
| 7 | g.87411970A>C | CA368060615 | ABCB4 | c.2847T>G (p.Tyr949Ter) c.2783+1647T>G (n.2783+1647T>G) c.2742T>G (p.Tyr914Ter) c.2784-66T>G (n.2784-66T>G) c.2868T>G (p.Tyr956Ter) c.2187T>G (p.Tyr729Ter) n.2779-2578T>G c.3117T>G (p.Tyr1039Ter) c.3012T>G (p.Tyr1004Ter) c.3054-66T>G (n.3054-66T>G) c.3053+1647T>G (n.3053+1647T>G) n.3454-2578T>G | |
| 7 | g.87411970A>G | CA456357887 | ABCB4 | c.2847T>C (p.Tyr949=) c.2783+1647T>C (n.2783+1647T>C) c.2742T>C (p.Tyr914=) c.2784-66T>C (n.2784-66T>C) c.2868T>C (p.Tyr956=) c.2187T>C (p.Tyr729=) n.2779-2578T>C c.3117T>C (p.Tyr1039=) c.3012T>C (p.Tyr1004=) c.3054-66T>C (n.3054-66T>C) c.3053+1647T>C (n.3053+1647T>C) n.3454-2578T>C | |
| 7 | g.87411970A>T | CA368060616 | ABCB4 | c.2847T>A (p.Tyr949Ter) c.2783+1647T>A (n.2783+1647T>A) c.2742T>A (p.Tyr914Ter) c.2784-66T>A (n.2784-66T>A) c.2868T>A (p.Tyr956Ter) c.2187T>A (p.Tyr729Ter) n.2779-2578T>A c.3117T>A (p.Tyr1039Ter) c.3012T>A (p.Tyr1004Ter) c.3054-66T>A (n.3054-66T>A) c.3053+1647T>A (n.3053+1647T>A) n.3454-2578T>A | |
| 7 | g.87411971T>A | CA368060617 | ABCB4 | c.2846A>T (p.Tyr949Phe) c.2783+1646A>T (n.2783+1646A>T) c.2741A>T (p.Tyr914Phe) c.2784-67A>T (n.2784-67A>T) c.2867A>T (p.Tyr956Phe) c.2186A>T (p.Tyr729Phe) n.2779-2579A>T c.3116A>T (p.Tyr1039Phe) c.3011A>T (p.Tyr1004Phe) c.3054-67A>T (n.3054-67A>T) c.3053+1646A>T (n.3053+1646A>T) n.3454-2579A>T | |
| 7 | g.87411971T>C | CA368060618 | ABCB4 | c.2846A>G (p.Tyr949Cys) c.2783+1646A>G (n.2783+1646A>G) c.2741A>G (p.Tyr914Cys) c.2784-67A>G (n.2784-67A>G) c.2867A>G (p.Tyr956Cys) c.2186A>G (p.Tyr729Cys) n.2779-2579A>G c.3116A>G (p.Tyr1039Cys) c.3011A>G (p.Tyr1004Cys) c.3054-67A>G (n.3054-67A>G) c.3053+1646A>G (n.3053+1646A>G) n.3454-2579A>G | gnomAD v4 |
| 7 | g.87411971T>G | CA368060619 | ABCB4 | c.2846A>C (p.Tyr949Ser) c.2783+1646A>C (n.2783+1646A>C) c.2741A>C (p.Tyr914Ser) c.2784-67A>C (n.2784-67A>C) c.2867A>C (p.Tyr956Ser) c.2186A>C (p.Tyr729Ser) n.2779-2579A>C c.3116A>C (p.Tyr1039Ser) c.3011A>C (p.Tyr1004Ser) c.3054-67A>C (n.3054-67A>C) c.3053+1646A>C (n.3053+1646A>C) n.3454-2579A>C | |
| 7 | g.87411972A>C | CA368060621 | ABCB4 | c.2845T>G (p.Tyr949Asp) c.2783+1645T>G (n.2783+1645T>G) c.2740T>G (p.Tyr914Asp) c.2784-68T>G (n.2784-68T>G) c.2866T>G (p.Tyr956Asp) c.2185T>G (p.Tyr729Asp) n.2779-2580T>G c.3115T>G (p.Tyr1039Asp) c.3010T>G (p.Tyr1004Asp) c.3054-68T>G (n.3054-68T>G) c.3053+1645T>G (n.3053+1645T>G) n.3454-2580T>G | |
| 7 | g.87411972A>G | CA368060622 | ABCB4 | c.2845T>C (p.Tyr949His) c.2783+1645T>C (n.2783+1645T>C) c.2740T>C (p.Tyr914His) c.2784-68T>C (n.2784-68T>C) c.2866T>C (p.Tyr956His) c.2185T>C (p.Tyr729His) n.2779-2580T>C c.3115T>C (p.Tyr1039His) c.3010T>C (p.Tyr1004His) c.3054-68T>C (n.3054-68T>C) c.3053+1645T>C (n.3053+1645T>C) n.3454-2580T>C | gnomAD v4 |